Incidental Mutation 'R8345:Pard3'
ID |
645173 |
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 |
067801-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8345 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
127790643-128338767 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 128050549 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 204
(R204W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125453
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026921]
[ENSMUST00000079777]
[ENSMUST00000108752]
[ENSMUST00000159537]
[ENSMUST00000159818]
[ENSMUST00000160272]
[ENSMUST00000160581]
[ENSMUST00000160717]
[ENSMUST00000160766]
[ENSMUST00000161355]
[ENSMUST00000162309]
[ENSMUST00000162456]
[ENSMUST00000162531]
[ENSMUST00000162536]
[ENSMUST00000162602]
[ENSMUST00000162907]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026921
AA Change: R204W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000026921 Gene: ENSMUSG00000025812 AA Change: R204W
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: R69W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000078710 Gene: ENSMUSG00000025812 AA Change: R69W
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: R69W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104383 Gene: ENSMUSG00000025812 AA Change: R69W
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 benign
Transcript: ENSMUST00000159537
|
SMART Domains |
Protein: ENSMUSP00000124934 Gene: ENSMUSG00000025812
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: R204W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125453 Gene: ENSMUSG00000025812 AA Change: R204W
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: R207W
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124141 Gene: ENSMUSG00000025812 AA Change: R207W
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: R69W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125612 Gene: ENSMUSG00000025812 AA Change: R69W
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 benign
Transcript: ENSMUST00000160766
|
SMART Domains |
Protein: ENSMUSP00000124533 Gene: ENSMUSG00000025812
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: ENSMUST00000161277
|
SMART Domains |
Protein: ENSMUSP00000124789 Gene: ENSMUSG00000025812
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: R204W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000125064 Gene: ENSMUSG00000025812 AA Change: R204W
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: ENSMUST00000162309
AA Change: R204W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124282 Gene: ENSMUSG00000025812 AA Change: R204W
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: R69W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124162 Gene: ENSMUSG00000025812 AA Change: R69W
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: ENSMUST00000162531
AA Change: R204W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125610 Gene: ENSMUSG00000025812 AA Change: R204W
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 benign
Transcript: ENSMUST00000162536
|
SMART Domains |
Protein: ENSMUSP00000125212 Gene: ENSMUSG00000025812
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: R204W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125450 Gene: ENSMUSG00000025812 AA Change: R204W
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: R223W
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: R204W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124319 Gene: ENSMUSG00000025812 AA Change: R204W
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf3 |
T |
C |
8: 123,508,284 (GRCm39) |
V260A |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,251,505 (GRCm39) |
D6204G |
probably damaging |
Het |
Ago3 |
T |
A |
4: 126,270,721 (GRCm39) |
K258* |
probably null |
Het |
Aspm |
T |
G |
1: 139,392,011 (GRCm39) |
Y787* |
probably null |
Het |
Atp8b5 |
A |
C |
4: 43,291,714 (GRCm39) |
D29A |
probably benign |
Het |
Bdh2 |
A |
T |
3: 135,001,013 (GRCm39) |
I128F |
probably damaging |
Het |
Bmper |
T |
A |
9: 23,136,126 (GRCm39) |
M69K |
probably benign |
Het |
Ccdc7a |
C |
T |
8: 129,525,245 (GRCm39) |
M1415I |
probably benign |
Het |
Ccpg1 |
G |
A |
9: 72,913,001 (GRCm39) |
R179H |
probably damaging |
Het |
Cdc23 |
G |
A |
18: 34,767,150 (GRCm39) |
T564I |
probably benign |
Het |
Cemip |
T |
A |
7: 83,591,373 (GRCm39) |
|
probably null |
Het |
Cfap65 |
C |
T |
1: 74,967,203 (GRCm39) |
G249R |
probably benign |
Het |
Clec2m |
T |
A |
6: 129,302,593 (GRCm39) |
N145Y |
probably damaging |
Het |
Cpsf1 |
T |
A |
15: 76,485,690 (GRCm39) |
T435S |
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,504,477 (GRCm39) |
T879A |
possibly damaging |
Het |
Diaph3 |
G |
A |
14: 87,066,529 (GRCm39) |
Q955* |
probably null |
Het |
Disp2 |
G |
A |
2: 118,641,284 (GRCm39) |
V298M |
unknown |
Het |
Dnah1 |
C |
A |
14: 30,986,551 (GRCm39) |
D3671Y |
probably damaging |
Het |
Dnmt3a |
T |
C |
12: 3,885,234 (GRCm39) |
S13P |
unknown |
Het |
Eci3 |
G |
A |
13: 35,132,164 (GRCm39) |
T228I |
probably damaging |
Het |
Ecm2 |
T |
C |
13: 49,674,276 (GRCm39) |
L232P |
probably benign |
Het |
Ednra |
G |
A |
8: 78,415,813 (GRCm39) |
R145C |
probably damaging |
Het |
Faap100 |
G |
T |
11: 120,267,856 (GRCm39) |
H306N |
possibly damaging |
Het |
Fam8a1 |
T |
A |
13: 46,827,054 (GRCm39) |
I275K |
probably damaging |
Het |
Fat3 |
C |
A |
9: 15,910,570 (GRCm39) |
V1811L |
probably benign |
Het |
Fbn2 |
C |
T |
18: 58,191,503 (GRCm39) |
C1540Y |
probably damaging |
Het |
Fcgbpl1 |
G |
A |
7: 27,854,785 (GRCm39) |
V1804M |
probably damaging |
Het |
Ffar3 |
A |
G |
7: 30,554,789 (GRCm39) |
L177P |
probably damaging |
Het |
Fmnl1 |
A |
G |
11: 103,077,440 (GRCm39) |
T267A |
possibly damaging |
Het |
Fsip1 |
T |
C |
2: 118,070,952 (GRCm39) |
E246G |
probably damaging |
Het |
Gemin4 |
A |
G |
11: 76,101,605 (GRCm39) |
L1052P |
probably damaging |
Het |
Gp2 |
C |
T |
7: 119,042,010 (GRCm39) |
C505Y |
probably benign |
Het |
Grm5 |
A |
T |
7: 87,723,746 (GRCm39) |
I679F |
probably damaging |
Het |
Hapln1 |
A |
T |
13: 89,732,902 (GRCm39) |
D21V |
probably benign |
Het |
Jak2 |
T |
C |
19: 29,262,270 (GRCm39) |
S364P |
probably damaging |
Het |
Kansl3 |
A |
G |
1: 36,387,897 (GRCm39) |
|
probably null |
Het |
Kntc1 |
T |
C |
5: 123,924,993 (GRCm39) |
L1102S |
probably benign |
Het |
Mbd3l2 |
A |
G |
9: 18,355,779 (GRCm39) |
I35V |
probably benign |
Het |
Mdfic |
G |
T |
6: 15,799,653 (GRCm39) |
C260F |
probably damaging |
Het |
Mroh2b |
T |
C |
15: 4,973,808 (GRCm39) |
S1109P |
probably benign |
Het |
Myocd |
A |
T |
11: 65,077,958 (GRCm39) |
C612* |
probably null |
Het |
Or4b13 |
A |
T |
2: 90,082,561 (GRCm39) |
M257K |
possibly damaging |
Het |
Or4c102 |
A |
G |
2: 88,422,435 (GRCm39) |
M96V |
probably benign |
Het |
Or4f17-ps1 |
T |
A |
2: 111,357,864 (GRCm39) |
C86* |
probably null |
Het |
Or52h7 |
T |
A |
7: 104,213,431 (GRCm39) |
M1K |
probably null |
Het |
Or5w22 |
A |
T |
2: 87,362,691 (GRCm39) |
T105S |
probably benign |
Het |
Or8k21 |
A |
T |
2: 86,145,451 (GRCm39) |
Y60N |
probably damaging |
Het |
Per1 |
T |
A |
11: 68,998,382 (GRCm39) |
N1031K |
possibly damaging |
Het |
Plekhh3 |
A |
G |
11: 101,055,105 (GRCm39) |
S583P |
unknown |
Het |
Pramel12 |
C |
T |
4: 143,143,438 (GRCm39) |
T68I |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,270,118 (GRCm39) |
C1268S |
possibly damaging |
Het |
Prpf6 |
T |
C |
2: 181,291,951 (GRCm39) |
I756T |
probably benign |
Het |
Pum2 |
T |
C |
12: 8,759,454 (GRCm39) |
V98A |
probably damaging |
Het |
Rad50 |
A |
T |
11: 53,574,968 (GRCm39) |
S652T |
probably benign |
Het |
Rfng |
G |
T |
11: 120,674,901 (GRCm39) |
P30T |
unknown |
Het |
Rfx7 |
T |
C |
9: 72,524,973 (GRCm39) |
I721T |
probably benign |
Het |
Rpf1 |
G |
T |
3: 146,213,431 (GRCm39) |
T240K |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,483,270 (GRCm39) |
N4189S |
probably benign |
Het |
Samd15 |
G |
C |
12: 87,248,212 (GRCm39) |
R299T |
probably benign |
Het |
Scn3a |
A |
G |
2: 65,329,335 (GRCm39) |
M765T |
possibly damaging |
Het |
Scn9a |
G |
A |
2: 66,324,966 (GRCm39) |
S1396L |
probably damaging |
Het |
Sec24a |
C |
T |
11: 51,634,605 (GRCm39) |
R107Q |
probably benign |
Het |
Sema4b |
T |
A |
7: 79,870,567 (GRCm39) |
V505E |
probably damaging |
Het |
Siglec1 |
T |
A |
2: 130,920,498 (GRCm39) |
T769S |
possibly damaging |
Het |
Sit1 |
T |
C |
4: 43,483,168 (GRCm39) |
E69G |
possibly damaging |
Het |
Slc12a8 |
C |
A |
16: 33,371,321 (GRCm39) |
D121E |
probably benign |
Het |
Slc30a10 |
A |
T |
1: 185,187,664 (GRCm39) |
Q135L |
probably benign |
Het |
Suox |
A |
G |
10: 128,507,200 (GRCm39) |
V276A |
probably benign |
Het |
Tbc1d9b |
A |
G |
11: 50,040,659 (GRCm39) |
D392G |
probably damaging |
Het |
Tmed5 |
A |
G |
5: 108,273,823 (GRCm39) |
W139R |
probably damaging |
Het |
Tnks1bp1 |
C |
T |
2: 84,893,226 (GRCm39) |
T389I |
possibly damaging |
Het |
Vmn1r65 |
A |
T |
7: 6,011,256 (GRCm39) |
I326K |
probably benign |
Het |
Vmn2r43 |
A |
G |
7: 8,256,601 (GRCm39) |
S421P |
possibly damaging |
Het |
Vmn2r57 |
A |
T |
7: 41,076,968 (GRCm39) |
N399K |
possibly damaging |
Het |
Vmn2r90 |
T |
A |
17: 17,933,127 (GRCm39) |
L229* |
probably null |
Het |
Vwf |
A |
T |
6: 125,656,265 (GRCm39) |
D2610V |
|
Het |
Zfp646 |
C |
T |
7: 127,483,082 (GRCm39) |
S1753L |
probably benign |
Het |
Zfy2 |
C |
A |
Y: 2,107,096 (GRCm39) |
V513F |
possibly damaging |
Het |
Zranb2 |
A |
T |
3: 157,251,731 (GRCm39) |
I317F |
unknown |
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 |
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 |
|
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'- CCTACTGTGTGCACTCTGTG -3'
(R):5'- TATGTCATGTACCACACGTTCC -3'
Sequencing Primer
(F):5'- CCCTACTGTGTGTACTTTGTGCAG -3'
(R):5'- ACACGTTCCCAACTGCTGG -3'
|
Posted On |
2020-09-02 |