Incidental Mutation 'R2224:Pard3'
ID |
241552 |
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 |
MMRRC Submission |
040225-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2224 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
127790643-128338767 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128086257 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 286
(I286V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125610
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026921]
[ENSMUST00000079777]
[ENSMUST00000108752]
[ENSMUST00000159537]
[ENSMUST00000159818]
[ENSMUST00000160272]
[ENSMUST00000160581]
[ENSMUST00000162536]
[ENSMUST00000162602]
[ENSMUST00000162907]
[ENSMUST00000162531]
[ENSMUST00000161355]
[ENSMUST00000162456]
[ENSMUST00000160766]
[ENSMUST00000162309]
[ENSMUST00000160717]
[ENSMUST00000162176]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026921
AA Change: I286V
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000026921 Gene: ENSMUSG00000025812 AA Change: I286V
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: I151V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000078710 Gene: ENSMUSG00000025812 AA Change: I151V
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: I151V
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104383 Gene: ENSMUSG00000025812 AA Change: I151V
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 |
possibly damaging
Transcript: ENSMUST00000159537
AA Change: I242V
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124934 Gene: ENSMUSG00000025812 AA Change: I242V
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 benign
Transcript: ENSMUST00000160272
AA Change: I286V
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000125453 Gene: ENSMUSG00000025812 AA Change: I286V
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 |
possibly damaging
Transcript: ENSMUST00000160581
AA Change: I289V
PolyPhen 2
Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124141 Gene: ENSMUSG00000025812 AA Change: I289V
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 |
possibly damaging
Transcript: ENSMUST00000162536
AA Change: I242V
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125212 Gene: ENSMUSG00000025812 AA Change: I242V
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 |
possibly damaging
Transcript: ENSMUST00000162602
AA Change: I286V
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125450 Gene: ENSMUSG00000025812 AA Change: I286V
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 |
probably damaging
Transcript: ENSMUST00000162907
AA Change: I286V
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124319 Gene: ENSMUSG00000025812 AA Change: I286V
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162531
AA Change: I286V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000125610 Gene: ENSMUSG00000025812 AA Change: I286V
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: ENSMUST00000161355
AA Change: I286V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125064 Gene: ENSMUSG00000025812 AA Change: I286V
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: ENSMUST00000162456
AA Change: I151V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124162 Gene: ENSMUSG00000025812 AA Change: I151V
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 benign
Transcript: ENSMUST00000160766
AA Change: I242V
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000124533 Gene: ENSMUSG00000025812 AA Change: I242V
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 |
probably benign
Transcript: ENSMUST00000162309
AA Change: I286V
PolyPhen 2
Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000124282 Gene: ENSMUSG00000025812 AA Change: I286V
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 |
unknown
Transcript: ENSMUST00000162665
AA Change: I305V
|
SMART Domains |
Protein: ENSMUSP00000124718 Gene: ENSMUSG00000025812 AA Change: I305V
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 |
unknown
Transcript: ENSMUST00000161277
AA Change: I217V
|
SMART Domains |
Protein: ENSMUSP00000124789 Gene: ENSMUSG00000025812 AA Change: I217V
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: ENSMUST00000160717
AA Change: I151V
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125612 Gene: ENSMUSG00000025812 AA Change: I151V
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 |
noncoding transcript
Transcript: ENSMUST00000162035
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160593
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162176
|
SMART Domains |
Protein: ENSMUSP00000123944 Gene: ENSMUSG00000025812
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
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]
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Allele List at MGI |
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Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
T |
G |
16: 14,289,932 (GRCm39) |
L1416R |
probably damaging |
Het |
Aen |
C |
A |
7: 78,552,199 (GRCm39) |
T15K |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,990,355 (GRCm39) |
|
probably benign |
Het |
Ar |
T |
A |
X: 97,194,937 (GRCm39) |
M517K |
probably benign |
Het |
Arsb |
T |
A |
13: 93,930,679 (GRCm39) |
F216I |
probably damaging |
Het |
Atg9b |
A |
G |
5: 24,591,393 (GRCm39) |
V735A |
possibly damaging |
Het |
Brinp3 |
C |
T |
1: 146,777,658 (GRCm39) |
Q702* |
probably null |
Het |
Btbd9 |
C |
A |
17: 30,746,320 (GRCm39) |
A169S |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,604,917 (GRCm39) |
N1132S |
probably benign |
Het |
Ccdc33 |
A |
G |
9: 57,989,305 (GRCm39) |
S123P |
probably damaging |
Het |
Cep250 |
A |
C |
2: 155,833,737 (GRCm39) |
E1886D |
possibly damaging |
Het |
Chd9 |
A |
C |
8: 91,737,913 (GRCm39) |
H1515P |
probably benign |
Het |
Cyp2c68 |
A |
G |
19: 39,724,026 (GRCm39) |
C213R |
probably benign |
Het |
Ddx41 |
G |
A |
13: 55,679,214 (GRCm39) |
T544I |
probably damaging |
Het |
Dgkk |
T |
A |
X: 6,741,487 (GRCm39) |
D102E |
probably damaging |
Het |
Eea1 |
T |
A |
10: 95,855,874 (GRCm39) |
V637D |
probably damaging |
Het |
Emcn |
T |
C |
3: 137,109,778 (GRCm39) |
I140T |
possibly damaging |
Het |
Exo1 |
A |
G |
1: 175,714,254 (GRCm39) |
|
probably null |
Het |
Fbxo21 |
T |
G |
5: 118,146,188 (GRCm39) |
Y597D |
probably damaging |
Het |
Fbxw20 |
G |
C |
9: 109,062,650 (GRCm39) |
Q59E |
possibly damaging |
Het |
Fpr3 |
T |
A |
17: 18,191,455 (GRCm39) |
V242D |
probably damaging |
Het |
Fyb1 |
A |
G |
15: 6,681,864 (GRCm39) |
Y737C |
probably damaging |
Het |
Gm17661 |
GG |
GGG |
2: 90,748,052 (GRCm39) |
|
noncoding transcript |
Het |
Hdac9 |
C |
T |
12: 34,457,801 (GRCm39) |
V251I |
probably benign |
Het |
Hoxa10 |
T |
C |
6: 52,209,616 (GRCm39) |
E52G |
probably damaging |
Het |
Il17f |
A |
G |
1: 20,849,599 (GRCm39) |
V55A |
probably damaging |
Het |
Inpp1 |
T |
A |
1: 52,829,290 (GRCm39) |
E243V |
probably benign |
Het |
Leap2 |
A |
G |
11: 53,313,634 (GRCm39) |
L46P |
probably damaging |
Het |
Map4k3 |
A |
T |
17: 80,937,883 (GRCm39) |
D339E |
probably benign |
Het |
Met |
A |
G |
6: 17,563,721 (GRCm39) |
|
probably null |
Het |
Mgam |
G |
T |
6: 40,741,208 (GRCm39) |
|
probably null |
Het |
Mrgpra1 |
A |
G |
7: 46,984,854 (GRCm39) |
V275A |
possibly damaging |
Het |
Mrgprx2 |
T |
A |
7: 48,132,608 (GRCm39) |
Q70L |
probably benign |
Het |
Mtus1 |
C |
T |
8: 41,535,812 (GRCm39) |
V635M |
probably damaging |
Het |
Mup18 |
G |
T |
4: 61,590,128 (GRCm39) |
F133L |
possibly damaging |
Het |
Naalad2 |
A |
T |
9: 18,287,829 (GRCm39) |
V267E |
possibly damaging |
Het |
Nin |
A |
T |
12: 70,108,004 (GRCm39) |
I196N |
probably damaging |
Het |
Nkpd1 |
A |
T |
7: 19,253,745 (GRCm39) |
Y37F |
probably benign |
Het |
Odc1 |
A |
G |
12: 17,597,336 (GRCm39) |
I13V |
probably benign |
Het |
Or1ad1 |
T |
C |
11: 50,876,059 (GRCm39) |
F177S |
probably damaging |
Het |
Or4a67 |
A |
T |
2: 88,597,930 (GRCm39) |
M243K |
possibly damaging |
Het |
Or5m12 |
T |
A |
2: 85,735,099 (GRCm39) |
I100F |
probably benign |
Het |
Pcx |
T |
C |
19: 4,668,026 (GRCm39) |
I516T |
possibly damaging |
Het |
Ppp1r9a |
G |
T |
6: 5,154,074 (GRCm39) |
R1081L |
probably benign |
Het |
Prpf40b |
C |
T |
15: 99,201,172 (GRCm39) |
|
probably benign |
Het |
Rnmt |
C |
T |
18: 68,438,854 (GRCm39) |
|
probably benign |
Het |
Saxo5 |
A |
G |
8: 3,529,249 (GRCm39) |
T245A |
probably benign |
Het |
Sfxn1 |
A |
G |
13: 54,239,536 (GRCm39) |
T20A |
possibly damaging |
Het |
Sirt2 |
A |
G |
7: 28,471,637 (GRCm39) |
|
probably null |
Het |
Spata31d1a |
T |
A |
13: 59,851,529 (GRCm39) |
I200L |
probably benign |
Het |
Spin2g |
A |
T |
X: 33,656,599 (GRCm39) |
I171N |
possibly damaging |
Het |
Tesl2 |
T |
A |
X: 23,825,173 (GRCm39) |
M1L |
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tsbp1 |
C |
A |
17: 34,667,737 (GRCm39) |
|
probably null |
Het |
Uqcrc2 |
T |
A |
7: 120,240,937 (GRCm39) |
V73E |
probably damaging |
Het |
Vmn2r100 |
A |
G |
17: 19,742,634 (GRCm39) |
K336R |
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,701,295 (GRCm39) |
Y68* |
probably null |
Het |
Zbtb4 |
C |
T |
11: 69,667,184 (GRCm39) |
T163I |
probably benign |
Het |
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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 |
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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 |
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BB011:Pard3
|
UTSW |
8 |
128,137,231 (GRCm39) |
missense |
probably benign |
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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 |
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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 |
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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 |
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R2001:Pard3
|
UTSW |
8 |
127,791,097 (GRCm39) |
splice site |
probably null |
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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 |
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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 |
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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 |
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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 |
R7267:Pard3
|
UTSW |
8 |
128,098,056 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
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Predicted Primers |
PCR Primer
(F):5'- CCTGTCAGTCCGGGATTTTG -3'
(R):5'- TTGCATAGAAACTTCCTCAATCGGG -3'
Sequencing Primer
(F):5'- CAGTCCGGGATTTTGTTTTGTTCTC -3'
(R):5'- TAGAAACTTCCTCAATCGGGCTGTG -3'
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Posted On |
2014-10-15 |