Incidental Mutation 'R7267:Pard3'
ID |
565002 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pard3
|
Ensembl Gene |
ENSMUSG00000025812 |
Gene Name |
par-3 family cell polarity regulator |
Synonyms |
Par3, Pard3a, ASIP, D8Ertd580e, PAR-3 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7267 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
127790643-128338767 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 128098056 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 366
(Y366H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125453
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026921]
[ENSMUST00000079777]
[ENSMUST00000108752]
[ENSMUST00000159537]
[ENSMUST00000159818]
[ENSMUST00000160272]
[ENSMUST00000160581]
[ENSMUST00000160717]
[ENSMUST00000160766]
[ENSMUST00000161355]
[ENSMUST00000162176]
[ENSMUST00000162309]
[ENSMUST00000162456]
[ENSMUST00000162531]
[ENSMUST00000162536]
[ENSMUST00000162602]
[ENSMUST00000162907]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026921
AA Change: Y366H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000026921 Gene: ENSMUSG00000025812 AA Change: Y366H
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
1 |
146 |
1.1e-72 |
PFAM |
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
low complexity region
|
771 |
781 |
N/A |
INTRINSIC |
PDB:4DC2|Z
|
810 |
837 |
3e-10 |
PDB |
low complexity region
|
863 |
875 |
N/A |
INTRINSIC |
low complexity region
|
892 |
902 |
N/A |
INTRINSIC |
low complexity region
|
921 |
950 |
N/A |
INTRINSIC |
low complexity region
|
965 |
1005 |
N/A |
INTRINSIC |
low complexity region
|
1162 |
1200 |
N/A |
INTRINSIC |
low complexity region
|
1264 |
1281 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079777
AA Change: Y231H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000078710 Gene: ENSMUSG00000025812 AA Change: Y231H
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
PDZ
|
147 |
226 |
2.34e-6 |
SMART |
low complexity region
|
296 |
305 |
N/A |
INTRINSIC |
PDZ
|
334 |
413 |
4.1e-20 |
SMART |
PDZ
|
464 |
549 |
9.87e-14 |
SMART |
low complexity region
|
636 |
646 |
N/A |
INTRINSIC |
PDB:4DC2|Z
|
675 |
702 |
2e-10 |
PDB |
low complexity region
|
743 |
755 |
N/A |
INTRINSIC |
low complexity region
|
772 |
782 |
N/A |
INTRINSIC |
low complexity region
|
801 |
830 |
N/A |
INTRINSIC |
low complexity region
|
845 |
885 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108752
AA Change: Y231H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000104383 Gene: ENSMUSG00000025812 AA Change: Y231H
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
PDZ
|
147 |
226 |
2.34e-6 |
SMART |
low complexity region
|
296 |
305 |
N/A |
INTRINSIC |
PDZ
|
334 |
413 |
4.1e-20 |
SMART |
PDZ
|
464 |
549 |
9.87e-14 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159537
AA Change: Y322H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124934 Gene: ENSMUSG00000025812 AA Change: Y322H
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
1 |
146 |
6.7e-73 |
PFAM |
PDZ
|
238 |
317 |
2.34e-6 |
SMART |
low complexity region
|
387 |
396 |
N/A |
INTRINSIC |
PDZ
|
425 |
504 |
4.1e-20 |
SMART |
PDZ
|
542 |
627 |
9.87e-14 |
SMART |
low complexity region
|
717 |
727 |
N/A |
INTRINSIC |
PDB:4DC2|Z
|
756 |
783 |
2e-10 |
PDB |
low complexity region
|
823 |
835 |
N/A |
INTRINSIC |
low complexity region
|
852 |
862 |
N/A |
INTRINSIC |
low complexity region
|
881 |
910 |
N/A |
INTRINSIC |
low complexity region
|
925 |
943 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159818
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160272
AA Change: Y366H
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000125453 Gene: ENSMUSG00000025812 AA Change: Y366H
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
1 |
146 |
1.7e-60 |
PFAM |
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
low complexity region
|
771 |
781 |
N/A |
INTRINSIC |
PDB:4DC2|Z
|
810 |
837 |
4e-10 |
PDB |
low complexity region
|
878 |
890 |
N/A |
INTRINSIC |
low complexity region
|
907 |
917 |
N/A |
INTRINSIC |
low complexity region
|
936 |
965 |
N/A |
INTRINSIC |
low complexity region
|
980 |
1020 |
N/A |
INTRINSIC |
low complexity region
|
1177 |
1215 |
N/A |
INTRINSIC |
low complexity region
|
1279 |
1296 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160581
AA Change: Y369H
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000124141 Gene: ENSMUSG00000025812 AA Change: Y369H
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
4 |
149 |
7.1e-73 |
PFAM |
low complexity region
|
237 |
249 |
N/A |
INTRINSIC |
PDZ
|
285 |
364 |
2.34e-6 |
SMART |
low complexity region
|
434 |
443 |
N/A |
INTRINSIC |
PDZ
|
472 |
551 |
4.1e-20 |
SMART |
PDZ
|
589 |
674 |
9.87e-14 |
SMART |
low complexity region
|
764 |
774 |
N/A |
INTRINSIC |
low complexity region
|
841 |
853 |
N/A |
INTRINSIC |
low complexity region
|
870 |
880 |
N/A |
INTRINSIC |
low complexity region
|
899 |
928 |
N/A |
INTRINSIC |
low complexity region
|
943 |
983 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160717
AA Change: Y231H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125612 Gene: ENSMUSG00000025812 AA Change: Y231H
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
PDZ
|
147 |
226 |
2.34e-6 |
SMART |
low complexity region
|
296 |
305 |
N/A |
INTRINSIC |
PDZ
|
334 |
413 |
4.1e-20 |
SMART |
PDZ
|
464 |
549 |
9.87e-14 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160766
AA Change: Y322H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124533 Gene: ENSMUSG00000025812 AA Change: Y322H
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
1 |
146 |
1e-72 |
PFAM |
PDZ
|
238 |
317 |
2.34e-6 |
SMART |
low complexity region
|
387 |
396 |
N/A |
INTRINSIC |
PDZ
|
425 |
504 |
4.1e-20 |
SMART |
PDZ
|
542 |
627 |
9.87e-14 |
SMART |
low complexity region
|
714 |
724 |
N/A |
INTRINSIC |
low complexity region
|
791 |
803 |
N/A |
INTRINSIC |
low complexity region
|
820 |
830 |
N/A |
INTRINSIC |
low complexity region
|
849 |
878 |
N/A |
INTRINSIC |
low complexity region
|
893 |
933 |
N/A |
INTRINSIC |
low complexity region
|
1090 |
1128 |
N/A |
INTRINSIC |
low complexity region
|
1192 |
1209 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000124789 Gene: ENSMUSG00000025812 AA Change: Y297H
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
3 |
122 |
9.6e-37 |
PFAM |
PDZ
|
214 |
293 |
2.34e-6 |
SMART |
low complexity region
|
363 |
372 |
N/A |
INTRINSIC |
PDZ
|
401 |
480 |
4.1e-20 |
SMART |
PDZ
|
518 |
603 |
9.87e-14 |
SMART |
low complexity region
|
693 |
703 |
N/A |
INTRINSIC |
PDB:4DC2|Z
|
732 |
759 |
2e-10 |
PDB |
low complexity region
|
799 |
811 |
N/A |
INTRINSIC |
low complexity region
|
828 |
838 |
N/A |
INTRINSIC |
low complexity region
|
857 |
886 |
N/A |
INTRINSIC |
low complexity region
|
901 |
919 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161355
AA Change: Y366H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125064 Gene: ENSMUSG00000025812 AA Change: Y366H
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
1 |
146 |
7.2e-73 |
PFAM |
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
low complexity region
|
771 |
781 |
N/A |
INTRINSIC |
low complexity region
|
847 |
859 |
N/A |
INTRINSIC |
low complexity region
|
876 |
886 |
N/A |
INTRINSIC |
low complexity region
|
905 |
934 |
N/A |
INTRINSIC |
low complexity region
|
949 |
989 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162176
AA Change: Y88H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000123944 Gene: ENSMUSG00000025812 AA Change: Y88H
Domain | Start | End | E-Value | Type |
PDZ
|
1 |
83 |
4.11e-2 |
SMART |
low complexity region
|
153 |
162 |
N/A |
INTRINSIC |
PDZ
|
191 |
270 |
4.1e-20 |
SMART |
PDZ
|
321 |
406 |
9.87e-14 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162309
AA Change: Y366H
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000124282 Gene: ENSMUSG00000025812 AA Change: Y366H
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
1 |
146 |
6.2e-73 |
PFAM |
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
low complexity region
|
771 |
781 |
N/A |
INTRINSIC |
PDB:4DC2|Z
|
810 |
837 |
4e-10 |
PDB |
low complexity region
|
877 |
889 |
N/A |
INTRINSIC |
low complexity region
|
906 |
916 |
N/A |
INTRINSIC |
low complexity region
|
935 |
964 |
N/A |
INTRINSIC |
low complexity region
|
979 |
1019 |
N/A |
INTRINSIC |
low complexity region
|
1176 |
1214 |
N/A |
INTRINSIC |
low complexity region
|
1278 |
1295 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162456
AA Change: Y231H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124162 Gene: ENSMUSG00000025812 AA Change: Y231H
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
PDZ
|
147 |
226 |
2.34e-6 |
SMART |
low complexity region
|
296 |
305 |
N/A |
INTRINSIC |
PDZ
|
334 |
413 |
4.1e-20 |
SMART |
PDZ
|
464 |
549 |
9.87e-14 |
SMART |
low complexity region
|
636 |
646 |
N/A |
INTRINSIC |
PDB:4DC2|Z
|
675 |
702 |
2e-10 |
PDB |
low complexity region
|
743 |
755 |
N/A |
INTRINSIC |
low complexity region
|
772 |
782 |
N/A |
INTRINSIC |
low complexity region
|
801 |
830 |
N/A |
INTRINSIC |
low complexity region
|
845 |
885 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162531
AA Change: Y366H
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000125610 Gene: ENSMUSG00000025812 AA Change: Y366H
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
1 |
146 |
8.4e-73 |
PFAM |
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
PDZ
|
586 |
671 |
9.87e-14 |
SMART |
low complexity region
|
761 |
771 |
N/A |
INTRINSIC |
low complexity region
|
838 |
850 |
N/A |
INTRINSIC |
low complexity region
|
867 |
877 |
N/A |
INTRINSIC |
low complexity region
|
896 |
925 |
N/A |
INTRINSIC |
low complexity region
|
940 |
980 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162536
AA Change: Y322H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125212 Gene: ENSMUSG00000025812 AA Change: Y322H
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
1 |
146 |
1e-72 |
PFAM |
PDZ
|
238 |
317 |
2.34e-6 |
SMART |
low complexity region
|
387 |
396 |
N/A |
INTRINSIC |
PDZ
|
425 |
504 |
4.1e-20 |
SMART |
PDZ
|
555 |
640 |
9.87e-14 |
SMART |
low complexity region
|
727 |
737 |
N/A |
INTRINSIC |
PDB:4DC2|Z
|
766 |
793 |
3e-10 |
PDB |
low complexity region
|
833 |
845 |
N/A |
INTRINSIC |
low complexity region
|
862 |
872 |
N/A |
INTRINSIC |
low complexity region
|
891 |
920 |
N/A |
INTRINSIC |
low complexity region
|
935 |
975 |
N/A |
INTRINSIC |
low complexity region
|
1132 |
1170 |
N/A |
INTRINSIC |
low complexity region
|
1234 |
1251 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162602
AA Change: Y366H
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125450 Gene: ENSMUSG00000025812 AA Change: Y366H
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
1 |
146 |
7.6e-73 |
PFAM |
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
low complexity region
|
774 |
784 |
N/A |
INTRINSIC |
PDB:4DC2|Z
|
813 |
840 |
2e-10 |
PDB |
low complexity region
|
881 |
893 |
N/A |
INTRINSIC |
low complexity region
|
910 |
920 |
N/A |
INTRINSIC |
low complexity region
|
939 |
968 |
N/A |
INTRINSIC |
low complexity region
|
983 |
1023 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000124718 Gene: ENSMUSG00000025812 AA Change: Y385H
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
21 |
166 |
1.4e-60 |
PFAM |
low complexity region
|
254 |
266 |
N/A |
INTRINSIC |
PDZ
|
302 |
381 |
2.34e-6 |
SMART |
low complexity region
|
451 |
460 |
N/A |
INTRINSIC |
PDZ
|
489 |
568 |
4.1e-20 |
SMART |
PDZ
|
619 |
704 |
9.87e-14 |
SMART |
low complexity region
|
791 |
801 |
N/A |
INTRINSIC |
low complexity region
|
868 |
880 |
N/A |
INTRINSIC |
low complexity region
|
897 |
907 |
N/A |
INTRINSIC |
low complexity region
|
926 |
955 |
N/A |
INTRINSIC |
low complexity region
|
970 |
1010 |
N/A |
INTRINSIC |
low complexity region
|
1167 |
1205 |
N/A |
INTRINSIC |
low complexity region
|
1269 |
1286 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162907
AA Change: Y366H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124319 Gene: ENSMUSG00000025812 AA Change: Y366H
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
1 |
146 |
4.6e-73 |
PFAM |
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011] PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality at E12.5 associated with growth retardation, abnormal heart development, and abnormal epicardial cell development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
G |
12: 118,916,205 (GRCm39) |
I37T |
probably damaging |
Het |
Ackr2 |
A |
G |
9: 121,737,874 (GRCm39) |
Y83C |
probably damaging |
Het |
Adam19 |
C |
T |
11: 46,012,403 (GRCm39) |
Q300* |
probably null |
Het |
Anxa7 |
C |
T |
14: 20,519,474 (GRCm39) |
A115T |
probably benign |
Het |
Aoc1l3 |
AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC |
AGGCCCAGCC |
6: 48,964,952 (GRCm39) |
|
probably benign |
Het |
Atad2b |
A |
T |
12: 5,077,105 (GRCm39) |
R1109* |
probably null |
Het |
Batf2 |
A |
G |
19: 6,221,396 (GRCm39) |
T69A |
probably benign |
Het |
Best1 |
A |
G |
19: 9,964,177 (GRCm39) |
C428R |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,892,980 (GRCm39) |
T973A |
probably benign |
Het |
Bmp2k |
C |
T |
5: 97,216,293 (GRCm39) |
T597I |
unknown |
Het |
Bmpr1a |
G |
A |
14: 34,165,836 (GRCm39) |
P57L |
possibly damaging |
Het |
Camk2d |
A |
T |
3: 126,591,379 (GRCm39) |
H283L |
possibly damaging |
Het |
Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
Ces1b |
C |
A |
8: 93,806,132 (GRCm39) |
K36N |
possibly damaging |
Het |
Ces2a |
T |
A |
8: 105,465,672 (GRCm39) |
M308K |
probably benign |
Het |
Ctnnd2 |
C |
A |
15: 30,683,501 (GRCm39) |
Q501K |
probably benign |
Het |
Cyb561d1 |
T |
C |
3: 108,106,629 (GRCm39) |
T197A |
probably benign |
Het |
Dedd2 |
C |
A |
7: 24,918,391 (GRCm39) |
A55S |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,391,643 (GRCm39) |
R684Q |
probably damaging |
Het |
Elovl3 |
A |
G |
19: 46,122,979 (GRCm39) |
Y185C |
probably damaging |
Het |
Fgf3 |
C |
T |
7: 144,392,569 (GRCm39) |
A42V |
probably damaging |
Het |
Gabra5 |
A |
G |
7: 57,140,529 (GRCm39) |
L56P |
probably damaging |
Het |
Gm19410 |
T |
G |
8: 36,281,997 (GRCm39) |
V1860G |
possibly damaging |
Het |
Gm21663 |
G |
T |
5: 26,143,751 (GRCm39) |
N190K |
probably damaging |
Het |
Grm3 |
T |
A |
5: 9,639,581 (GRCm39) |
I155L |
probably benign |
Het |
Hadha |
A |
G |
5: 30,327,755 (GRCm39) |
I495T |
probably damaging |
Het |
Herc4 |
C |
T |
10: 63,109,365 (GRCm39) |
A200V |
possibly damaging |
Het |
Itga3 |
C |
A |
11: 94,967,188 (GRCm39) |
|
probably benign |
Het |
Krt6a |
C |
T |
15: 101,602,289 (GRCm39) |
S132N |
probably benign |
Het |
Lpar1 |
T |
C |
4: 58,486,857 (GRCm39) |
N138S |
possibly damaging |
Het |
Lrrc42 |
T |
A |
4: 107,096,983 (GRCm39) |
T247S |
probably damaging |
Het |
Man2b1 |
T |
A |
8: 85,813,804 (GRCm39) |
V256E |
probably damaging |
Het |
Map3k4 |
G |
T |
17: 12,490,536 (GRCm39) |
Y298* |
probably null |
Het |
Mars1 |
A |
G |
10: 127,144,455 (GRCm39) |
V195A |
probably benign |
Het |
Mdm4 |
A |
T |
1: 132,922,311 (GRCm39) |
V278E |
probably benign |
Het |
Mdp1 |
A |
G |
14: 55,897,544 (GRCm39) |
V37A |
probably damaging |
Het |
Med13 |
A |
G |
11: 86,199,652 (GRCm39) |
I685T |
probably benign |
Het |
Mobp |
A |
G |
9: 119,996,914 (GRCm39) |
N15S |
probably damaging |
Het |
Nbn |
T |
A |
4: 15,979,320 (GRCm39) |
M435K |
probably benign |
Het |
Nfs1 |
A |
G |
2: 155,965,703 (GRCm39) |
V126A |
probably benign |
Het |
Npepl1 |
T |
A |
2: 173,963,909 (GRCm39) |
V480E |
probably damaging |
Het |
Nr2e3 |
G |
A |
9: 59,855,972 (GRCm39) |
S155F |
possibly damaging |
Het |
Oplah |
T |
C |
15: 76,189,209 (GRCm39) |
D278G |
probably benign |
Het |
Or4c124 |
A |
T |
2: 89,156,157 (GRCm39) |
Y122* |
probably null |
Het |
Or51q1c |
A |
G |
7: 103,653,046 (GRCm39) |
H188R |
probably benign |
Het |
Pcdhb11 |
A |
G |
18: 37,555,006 (GRCm39) |
N112S |
possibly damaging |
Het |
Pde11a |
A |
G |
2: 76,168,189 (GRCm39) |
S255P |
probably damaging |
Het |
Piezo1 |
T |
C |
8: 123,224,268 (GRCm39) |
H745R |
|
Het |
Pkn2 |
A |
T |
3: 142,517,776 (GRCm39) |
S441T |
possibly damaging |
Het |
Pld1 |
A |
C |
3: 28,130,550 (GRCm39) |
H450P |
probably damaging |
Het |
Plekhs1 |
T |
A |
19: 56,459,209 (GRCm39) |
H22Q |
probably damaging |
Het |
Prss44 |
A |
C |
9: 110,645,611 (GRCm39) |
Y285S |
probably damaging |
Het |
Qpctl |
T |
C |
7: 18,878,852 (GRCm39) |
E249G |
probably benign |
Het |
Rcsd1 |
A |
T |
1: 165,491,185 (GRCm39) |
S50T |
probably damaging |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Scube1 |
T |
A |
15: 83,505,266 (GRCm39) |
N496Y |
probably damaging |
Het |
Skic3 |
A |
G |
13: 76,328,196 (GRCm39) |
M1415V |
probably benign |
Het |
Slc16a8 |
AGGCC |
A |
15: 79,136,125 (GRCm39) |
|
probably null |
Het |
Slc38a4 |
T |
A |
15: 96,903,781 (GRCm39) |
T407S |
probably benign |
Het |
Slc51a |
T |
G |
16: 32,298,590 (GRCm39) |
I56L |
probably benign |
Het |
Slc6a18 |
T |
G |
13: 73,819,755 (GRCm39) |
I272L |
probably damaging |
Het |
Sorl1 |
A |
G |
9: 42,035,375 (GRCm39) |
L12P |
possibly damaging |
Het |
Sycp2l |
A |
T |
13: 41,300,070 (GRCm39) |
D428V |
possibly damaging |
Het |
Syne1 |
C |
T |
10: 5,178,218 (GRCm39) |
R4752Q |
probably damaging |
Het |
Tbc1d9 |
C |
A |
8: 83,997,957 (GRCm39) |
H1171Q |
probably damaging |
Het |
Thsd1 |
G |
A |
8: 22,733,597 (GRCm39) |
V215I |
probably benign |
Het |
Tmem143 |
T |
A |
7: 45,557,598 (GRCm39) |
M208K |
probably benign |
Het |
Tmem63b |
C |
T |
17: 45,977,048 (GRCm39) |
V440I |
probably benign |
Het |
Tnik |
A |
T |
3: 28,700,776 (GRCm39) |
S918C |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,733,751 (GRCm39) |
I4508T |
unknown |
Het |
Vav2 |
A |
G |
2: 27,173,334 (GRCm39) |
F497L |
probably damaging |
Het |
Zc3h14 |
G |
A |
12: 98,751,988 (GRCm39) |
R730Q |
probably damaging |
Het |
Zfp560 |
G |
A |
9: 20,259,384 (GRCm39) |
H493Y |
probably damaging |
Het |
|
Other mutations in Pard3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00161:Pard3
|
APN |
8 |
128,086,299 (GRCm39) |
splice site |
probably benign |
|
IGL00484:Pard3
|
APN |
8 |
128,098,327 (GRCm39) |
missense |
probably benign |
0.05 |
IGL00674:Pard3
|
APN |
8 |
128,115,159 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01471:Pard3
|
APN |
8 |
128,104,727 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01505:Pard3
|
APN |
8 |
128,050,544 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02252:Pard3
|
APN |
8 |
128,125,237 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02511:Pard3
|
APN |
8 |
127,888,070 (GRCm39) |
splice site |
probably benign |
|
IGL02838:Pard3
|
APN |
8 |
128,153,128 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02948:Pard3
|
APN |
8 |
128,032,975 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02987:Pard3
|
APN |
8 |
128,115,972 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03037:Pard3
|
APN |
8 |
128,032,975 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03084:Pard3
|
APN |
8 |
128,319,573 (GRCm39) |
missense |
probably damaging |
0.96 |
BB001:Pard3
|
UTSW |
8 |
128,137,231 (GRCm39) |
missense |
probably benign |
|
BB011:Pard3
|
UTSW |
8 |
128,137,231 (GRCm39) |
missense |
probably benign |
|
R0025:Pard3
|
UTSW |
8 |
127,888,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R0025:Pard3
|
UTSW |
8 |
127,888,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R0029:Pard3
|
UTSW |
8 |
128,153,239 (GRCm39) |
splice site |
probably benign |
|
R0109:Pard3
|
UTSW |
8 |
128,125,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R0309:Pard3
|
UTSW |
8 |
128,103,378 (GRCm39) |
splice site |
probably benign |
|
R0415:Pard3
|
UTSW |
8 |
128,337,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R0507:Pard3
|
UTSW |
8 |
128,097,967 (GRCm39) |
splice site |
probably benign |
|
R1055:Pard3
|
UTSW |
8 |
128,104,761 (GRCm39) |
missense |
probably benign |
0.34 |
R1305:Pard3
|
UTSW |
8 |
128,032,891 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1619:Pard3
|
UTSW |
8 |
128,106,983 (GRCm39) |
missense |
probably benign |
0.02 |
R1855:Pard3
|
UTSW |
8 |
128,174,293 (GRCm39) |
splice site |
probably null |
|
R2001:Pard3
|
UTSW |
8 |
127,791,097 (GRCm39) |
splice site |
probably null |
|
R2060:Pard3
|
UTSW |
8 |
128,125,085 (GRCm39) |
missense |
probably benign |
0.05 |
R2064:Pard3
|
UTSW |
8 |
128,337,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R2113:Pard3
|
UTSW |
8 |
128,115,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R2136:Pard3
|
UTSW |
8 |
128,103,366 (GRCm39) |
critical splice donor site |
probably null |
|
R2224:Pard3
|
UTSW |
8 |
128,086,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R2252:Pard3
|
UTSW |
8 |
128,337,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R3870:Pard3
|
UTSW |
8 |
128,136,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R4154:Pard3
|
UTSW |
8 |
128,200,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R4212:Pard3
|
UTSW |
8 |
128,336,939 (GRCm39) |
missense |
probably benign |
0.43 |
R4243:Pard3
|
UTSW |
8 |
128,098,128 (GRCm39) |
missense |
probably benign |
0.09 |
R4523:Pard3
|
UTSW |
8 |
128,125,108 (GRCm39) |
missense |
probably benign |
0.08 |
R4857:Pard3
|
UTSW |
8 |
128,050,535 (GRCm39) |
missense |
probably damaging |
0.98 |
R4876:Pard3
|
UTSW |
8 |
128,287,950 (GRCm39) |
intron |
probably benign |
|
R4877:Pard3
|
UTSW |
8 |
128,115,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R5197:Pard3
|
UTSW |
8 |
127,800,040 (GRCm39) |
splice site |
probably null |
|
R5215:Pard3
|
UTSW |
8 |
128,104,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R5279:Pard3
|
UTSW |
8 |
128,186,867 (GRCm39) |
critical splice donor site |
probably null |
|
R5349:Pard3
|
UTSW |
8 |
128,142,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R5479:Pard3
|
UTSW |
8 |
128,096,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R5514:Pard3
|
UTSW |
8 |
128,153,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R5681:Pard3
|
UTSW |
8 |
128,115,914 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5934:Pard3
|
UTSW |
8 |
128,115,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R6034:Pard3
|
UTSW |
8 |
127,791,077 (GRCm39) |
utr 5 prime |
probably benign |
|
R6034:Pard3
|
UTSW |
8 |
127,791,077 (GRCm39) |
utr 5 prime |
probably benign |
|
R6187:Pard3
|
UTSW |
8 |
127,800,023 (GRCm39) |
missense |
probably benign |
0.00 |
R6382:Pard3
|
UTSW |
8 |
128,103,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R6774:Pard3
|
UTSW |
8 |
128,137,228 (GRCm39) |
missense |
probably damaging |
0.98 |
R7130:Pard3
|
UTSW |
8 |
128,142,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R7358:Pard3
|
UTSW |
8 |
128,319,573 (GRCm39) |
missense |
probably damaging |
0.98 |
R7528:Pard3
|
UTSW |
8 |
128,329,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R7537:Pard3
|
UTSW |
8 |
128,337,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R7679:Pard3
|
UTSW |
8 |
128,098,327 (GRCm39) |
missense |
probably benign |
0.05 |
R7924:Pard3
|
UTSW |
8 |
128,137,231 (GRCm39) |
missense |
probably benign |
|
R8076:Pard3
|
UTSW |
8 |
128,142,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R8258:Pard3
|
UTSW |
8 |
128,098,021 (GRCm39) |
nonsense |
probably null |
|
R8259:Pard3
|
UTSW |
8 |
128,098,021 (GRCm39) |
nonsense |
probably null |
|
R8345:Pard3
|
UTSW |
8 |
128,050,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R8421:Pard3
|
UTSW |
8 |
127,867,158 (GRCm39) |
intron |
probably benign |
|
R8500:Pard3
|
UTSW |
8 |
128,186,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R8742:Pard3
|
UTSW |
8 |
128,050,592 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8918:Pard3
|
UTSW |
8 |
128,098,011 (GRCm39) |
missense |
probably benign |
0.29 |
R9005:Pard3
|
UTSW |
8 |
128,003,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R9629:Pard3
|
UTSW |
8 |
128,136,153 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9643:Pard3
|
UTSW |
8 |
128,115,900 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCGGAGCTTGCAATGTGG -3'
(R):5'- TGAGCACTATGAGGTAGTCGGG -3'
Sequencing Primer
(F):5'- TGAATGGTTCCAACAGCCTG -3'
(R):5'- TAGTCGGGGGTGAGCATCC -3'
|
Posted On |
2019-06-26 |