Incidental Mutation 'R8995:Pcdhgb7'
ID |
684700 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhgb7
|
Ensembl Gene |
ENSMUSG00000104063 |
Gene Name |
protocadherin gamma subfamily B, 7 |
Synonyms |
|
MMRRC Submission |
068826-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
R8995 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37884672-37974923 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37885230 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 133
(F133L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000194928]
[ENSMUST00000192511]
[ENSMUST00000192535]
[ENSMUST00000192931]
[ENSMUST00000193404]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000195112]
[ENSMUST00000195363]
[ENSMUST00000195823]
|
AlphaFold |
Q91XX3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003599
|
SMART Domains |
Protein: ENSMUSP00000003599 Gene: ENSMUSG00000103088
Domain | Start | End | E-Value | Type |
CA
|
47 |
131 |
8.06e-6 |
SMART |
CA
|
155 |
240 |
2.29e-19 |
SMART |
CA
|
264 |
345 |
3.36e-26 |
SMART |
CA
|
369 |
450 |
4.94e-24 |
SMART |
CA
|
474 |
560 |
7.6e-25 |
SMART |
CA
|
591 |
672 |
9.18e-10 |
SMART |
Pfam:Cadherin_C_2
|
687 |
768 |
3.5e-20 |
PFAM |
Pfam:Cadherin_tail
|
807 |
930 |
8.1e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000061279
|
SMART Domains |
Protein: ENSMUSP00000058362 Gene: ENSMUSG00000102742
Domain | Start | End | E-Value | Type |
CA
|
45 |
131 |
3.23e-2 |
SMART |
CA
|
155 |
240 |
2.22e-17 |
SMART |
CA
|
264 |
345 |
3.36e-26 |
SMART |
CA
|
369 |
450 |
7.09e-25 |
SMART |
CA
|
474 |
560 |
3.55e-25 |
SMART |
CA
|
591 |
669 |
2.53e-12 |
SMART |
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
low complexity region
|
914 |
933 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000066149
|
SMART Domains |
Protein: ENSMUSP00000067728 Gene: ENSMUSG00000103897
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
CA
|
31 |
131 |
4.84e-2 |
SMART |
CA
|
155 |
240 |
1.48e-22 |
SMART |
CA
|
264 |
345 |
1.14e-23 |
SMART |
CA
|
369 |
450 |
9.44e-21 |
SMART |
CA
|
474 |
560 |
1.03e-26 |
SMART |
CA
|
591 |
669 |
3.64e-13 |
SMART |
Pfam:Cadherin_C_2
|
688 |
772 |
3e-25 |
PFAM |
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000073447
|
SMART Domains |
Protein: ENSMUSP00000073150 Gene: ENSMUSG00000104346
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
CA
|
42 |
128 |
2.15e-2 |
SMART |
CA
|
152 |
237 |
4.8e-13 |
SMART |
CA
|
261 |
342 |
9.36e-25 |
SMART |
CA
|
366 |
447 |
6.62e-25 |
SMART |
CA
|
471 |
557 |
6.72e-26 |
SMART |
CA
|
588 |
666 |
2.15e-15 |
SMART |
Pfam:Cadherin_C_2
|
685 |
768 |
4.8e-24 |
PFAM |
Pfam:Cadherin_tail
|
805 |
928 |
8.1e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000091935
|
SMART Domains |
Protein: ENSMUSP00000089555 Gene: ENSMUSG00000102440
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
CA
|
32 |
132 |
8.37e-3 |
SMART |
CA
|
156 |
241 |
5.51e-22 |
SMART |
CA
|
265 |
346 |
8.27e-26 |
SMART |
CA
|
370 |
451 |
1.4e-23 |
SMART |
CA
|
475 |
561 |
2.97e-27 |
SMART |
CA
|
592 |
670 |
1.18e-12 |
SMART |
Pfam:Cadherin_C_2
|
688 |
772 |
3.9e-24 |
PFAM |
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
SMART Domains |
Protein: ENSMUSP00000111325 Gene: ENSMUSG00000103458
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
5.3e-2 |
SMART |
CA
|
155 |
240 |
1.51e-19 |
SMART |
CA
|
264 |
348 |
7.6e-25 |
SMART |
CA
|
372 |
453 |
1.42e-24 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
674 |
4.12e-12 |
SMART |
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000194928
AA Change: F133L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000141997 Gene: ENSMUSG00000104063 AA Change: F133L
Domain | Start | End | E-Value | Type |
CA
|
47 |
131 |
2.48e-6 |
SMART |
CA
|
155 |
240 |
1.57e-17 |
SMART |
CA
|
264 |
343 |
1.29e-27 |
SMART |
CA
|
367 |
448 |
9.14e-28 |
SMART |
CA
|
472 |
558 |
1.24e-24 |
SMART |
CA
|
589 |
670 |
3.73e-10 |
SMART |
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
low complexity region
|
716 |
721 |
N/A |
INTRINSIC |
low complexity region
|
910 |
929 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192511
|
SMART Domains |
Protein: ENSMUSP00000141704 Gene: ENSMUSG00000103472
Domain | Start | End | E-Value | Type |
CA
|
47 |
133 |
1.57e-2 |
SMART |
CA
|
157 |
242 |
3.24e-19 |
SMART |
CA
|
266 |
347 |
3.21e-23 |
SMART |
CA
|
371 |
452 |
9.08e-23 |
SMART |
CA
|
476 |
562 |
1.32e-24 |
SMART |
CA
|
593 |
671 |
3.5e-15 |
SMART |
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
low complexity region
|
916 |
935 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192535
|
SMART Domains |
Protein: ENSMUSP00000142010 Gene: ENSMUSG00000103749
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
CA
|
56 |
131 |
8e-3 |
SMART |
CA
|
155 |
240 |
2.49e-20 |
SMART |
CA
|
264 |
341 |
4.97e-29 |
SMART |
CA
|
365 |
446 |
1.09e-25 |
SMART |
CA
|
470 |
556 |
1.75e-24 |
SMART |
CA
|
587 |
668 |
9.18e-10 |
SMART |
transmembrane domain
|
687 |
709 |
N/A |
INTRINSIC |
low complexity region
|
907 |
926 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192931
|
SMART Domains |
Protein: ENSMUSP00000141348 Gene: ENSMUSG00000103037
Domain | Start | End | E-Value | Type |
CA
|
36 |
119 |
8e-3 |
SMART |
CA
|
143 |
228 |
1.34e-20 |
SMART |
CA
|
252 |
333 |
1.52e-24 |
SMART |
CA
|
357 |
438 |
9.22e-24 |
SMART |
CA
|
462 |
548 |
1.24e-24 |
SMART |
CA
|
579 |
660 |
1.3e-9 |
SMART |
transmembrane domain
|
679 |
701 |
N/A |
INTRINSIC |
low complexity region
|
899 |
918 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193404
|
SMART Domains |
Protein: ENSMUSP00000141359 Gene: ENSMUSG00000102222
Domain | Start | End | E-Value | Type |
CA
|
43 |
129 |
2.76e-2 |
SMART |
CA
|
153 |
238 |
1.16e-20 |
SMART |
CA
|
262 |
343 |
1.25e-25 |
SMART |
CA
|
367 |
448 |
4.75e-26 |
SMART |
CA
|
472 |
558 |
3.69e-23 |
SMART |
CA
|
589 |
667 |
3.84e-12 |
SMART |
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193414
|
SMART Domains |
Protein: ENSMUSP00000141893 Gene: ENSMUSG00000103567
Domain | Start | End | E-Value | Type |
CA
|
45 |
131 |
2.45e-1 |
SMART |
CA
|
155 |
240 |
1.05e-18 |
SMART |
CA
|
264 |
345 |
6.52e-24 |
SMART |
CA
|
369 |
450 |
5.99e-23 |
SMART |
CA
|
474 |
560 |
6.99e-24 |
SMART |
CA
|
591 |
669 |
5.31e-15 |
SMART |
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193869
|
SMART Domains |
Protein: ENSMUSP00000141482 Gene: ENSMUSG00000103332
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
CA
|
45 |
131 |
1.64e-2 |
SMART |
CA
|
155 |
240 |
6.42e-23 |
SMART |
CA
|
264 |
345 |
1.76e-20 |
SMART |
CA
|
369 |
450 |
2.27e-23 |
SMART |
CA
|
474 |
560 |
1.5e-23 |
SMART |
CA
|
591 |
669 |
1.17e-16 |
SMART |
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194190
|
SMART Domains |
Protein: ENSMUSP00000142062 Gene: ENSMUSG00000103144
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
CA
|
31 |
131 |
3.16e-2 |
SMART |
CA
|
155 |
240 |
5.39e-16 |
SMART |
CA
|
264 |
345 |
6.72e-26 |
SMART |
CA
|
369 |
450 |
1.32e-24 |
SMART |
CA
|
474 |
560 |
4.17e-22 |
SMART |
CA
|
591 |
669 |
4.48e-13 |
SMART |
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194418
|
SMART Domains |
Protein: ENSMUSP00000142140 Gene: ENSMUSG00000103677
Domain | Start | End | E-Value | Type |
CA
|
44 |
130 |
1.64e-2 |
SMART |
CA
|
154 |
239 |
3.93e-18 |
SMART |
CA
|
263 |
344 |
5.22e-23 |
SMART |
CA
|
368 |
449 |
5.02e-25 |
SMART |
CA
|
473 |
559 |
2.07e-26 |
SMART |
CA
|
590 |
668 |
6.84e-18 |
SMART |
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
SMART Domains |
Protein: ENSMUSP00000141847 Gene: ENSMUSG00000102836
Domain | Start | End | E-Value | Type |
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195112
|
SMART Domains |
Protein: ENSMUSP00000141449 Gene: ENSMUSG00000102748
Domain | Start | End | E-Value | Type |
CA
|
24 |
130 |
8.18e-3 |
SMART |
CA
|
154 |
239 |
1.39e-18 |
SMART |
CA
|
263 |
344 |
7.91e-23 |
SMART |
CA
|
368 |
449 |
2.27e-23 |
SMART |
CA
|
473 |
559 |
1.24e-24 |
SMART |
CA
|
590 |
671 |
1.3e-9 |
SMART |
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
low complexity region
|
909 |
928 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195363
|
SMART Domains |
Protein: ENSMUSP00000142227 Gene: ENSMUSG00000103585
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
CA
|
56 |
131 |
1.47e-2 |
SMART |
CA
|
155 |
240 |
1.23e-19 |
SMART |
CA
|
264 |
343 |
5.54e-27 |
SMART |
CA
|
367 |
448 |
5.09e-26 |
SMART |
CA
|
472 |
558 |
1.98e-23 |
SMART |
CA
|
589 |
670 |
1.3e-9 |
SMART |
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
low complexity region
|
893 |
912 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195823
|
SMART Domains |
Protein: ENSMUSP00000141803 Gene: ENSMUSG00000103793
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
CA
|
45 |
131 |
2.41e-2 |
SMART |
CA
|
155 |
240 |
5.77e-16 |
SMART |
CA
|
264 |
345 |
1.1e-21 |
SMART |
CA
|
369 |
450 |
2.75e-22 |
SMART |
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
CA
|
474 |
560 |
9.22e-24 |
SMART |
CA
|
591 |
669 |
2.4e-13 |
SMART |
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018B08Rik |
A |
G |
8: 122,257,764 (GRCm39) |
*214R |
probably null |
Het |
Acd |
A |
G |
8: 106,427,131 (GRCm39) |
L93P |
probably damaging |
Het |
Adgrv1 |
GTT |
GT |
13: 81,553,457 (GRCm39) |
|
probably null |
Het |
Aldh1b1 |
T |
A |
4: 45,803,413 (GRCm39) |
M317K |
possibly damaging |
Het |
Arfgap2 |
C |
A |
2: 91,103,929 (GRCm39) |
Q342K |
probably damaging |
Het |
Arhgef16 |
C |
T |
4: 154,371,495 (GRCm39) |
E233K |
probably damaging |
Het |
Asxl1 |
C |
T |
2: 153,235,886 (GRCm39) |
R323C |
probably damaging |
Het |
Bank1 |
G |
T |
3: 135,772,264 (GRCm39) |
D656E |
possibly damaging |
Het |
Bdh2 |
A |
G |
3: 135,000,989 (GRCm39) |
M120V |
probably damaging |
Het |
Bend7 |
A |
G |
2: 4,749,103 (GRCm39) |
I73M |
probably damaging |
Het |
Cd207 |
C |
A |
6: 83,652,891 (GRCm39) |
D80Y |
probably damaging |
Het |
Cdon |
A |
G |
9: 35,398,093 (GRCm39) |
T937A |
probably damaging |
Het |
Cntn1 |
G |
A |
15: 92,132,347 (GRCm39) |
V148M |
probably damaging |
Het |
Csnk2a1-ps3 |
T |
A |
1: 156,352,873 (GRCm39) |
V358E |
probably benign |
Het |
Ddx50 |
A |
G |
10: 62,469,862 (GRCm39) |
I375T |
probably damaging |
Het |
Dhrs1 |
T |
A |
14: 55,977,396 (GRCm39) |
T241S |
probably benign |
Het |
Eef1b2 |
T |
C |
1: 63,217,629 (GRCm39) |
Y79H |
probably damaging |
Het |
Elmod2 |
A |
G |
8: 84,049,315 (GRCm39) |
C84R |
probably benign |
Het |
Exo1 |
A |
G |
1: 175,736,127 (GRCm39) |
H837R |
probably benign |
Het |
Fat3 |
T |
C |
9: 16,286,898 (GRCm39) |
N875S |
probably damaging |
Het |
Flvcr1 |
A |
T |
1: 190,743,817 (GRCm39) |
L413Q |
probably damaging |
Het |
Fras1 |
G |
T |
5: 96,860,415 (GRCm39) |
V2154F |
possibly damaging |
Het |
Golm2 |
A |
C |
2: 121,756,199 (GRCm39) |
E409D |
probably damaging |
Het |
Hectd4 |
G |
A |
5: 121,392,422 (GRCm39) |
V229M |
possibly damaging |
Het |
Ifitm6 |
A |
T |
7: 140,596,617 (GRCm39) |
V52E |
probably damaging |
Het |
Igkv4-58 |
A |
G |
6: 69,477,511 (GRCm39) |
S29P |
probably damaging |
Het |
Klc1 |
G |
A |
12: 111,743,344 (GRCm39) |
A224T |
probably damaging |
Het |
Knl1 |
T |
C |
2: 118,902,990 (GRCm39) |
S1564P |
probably benign |
Het |
Krt25 |
T |
C |
11: 99,207,382 (GRCm39) |
D399G |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,207,993 (GRCm39) |
Q98R |
probably benign |
Het |
Lpar1 |
T |
A |
4: 58,486,954 (GRCm39) |
M106L |
probably damaging |
Het |
Mpc1 |
A |
G |
17: 8,502,784 (GRCm39) |
Y21C |
probably benign |
Het |
Msr1 |
T |
A |
8: 40,042,460 (GRCm39) |
I372F |
possibly damaging |
Het |
Ndc80 |
T |
C |
17: 71,815,598 (GRCm39) |
N396D |
probably benign |
Het |
Nphp4 |
G |
A |
4: 152,623,345 (GRCm39) |
R673H |
probably damaging |
Het |
Nsd3 |
T |
C |
8: 26,131,169 (GRCm39) |
F178S |
probably damaging |
Het |
Or1p1b |
A |
T |
11: 74,130,620 (GRCm39) |
T77S |
probably benign |
Het |
Or8g54 |
T |
C |
9: 39,707,313 (GRCm39) |
I214T |
possibly damaging |
Het |
Pikfyve |
A |
G |
1: 65,244,746 (GRCm39) |
|
probably null |
Het |
Pld5 |
A |
T |
1: 175,791,580 (GRCm39) |
D475E |
probably benign |
Het |
Potefam3f |
A |
T |
8: 20,479,025 (GRCm39) |
H11L |
|
Het |
Prop1 |
G |
A |
11: 50,841,887 (GRCm39) |
P173L |
possibly damaging |
Het |
Rabepk |
G |
A |
2: 34,689,842 (GRCm39) |
|
probably benign |
Het |
Reln |
A |
G |
5: 22,184,577 (GRCm39) |
I1646T |
probably benign |
Het |
Rexo1 |
A |
T |
10: 80,386,095 (GRCm39) |
L321Q |
probably damaging |
Het |
Rfx3 |
T |
A |
19: 27,783,725 (GRCm39) |
E382V |
probably benign |
Het |
Rnf20 |
C |
T |
4: 49,648,437 (GRCm39) |
T415I |
possibly damaging |
Het |
Rpl10-ps3 |
T |
A |
9: 50,256,078 (GRCm39) |
D55V |
probably benign |
Het |
Sag |
A |
G |
1: 87,733,052 (GRCm39) |
T7A |
probably benign |
Het |
Saysd1 |
G |
A |
14: 20,133,005 (GRCm39) |
R51C |
probably damaging |
Het |
Shprh |
T |
A |
10: 11,040,574 (GRCm39) |
Y682* |
probably null |
Het |
Slc6a13 |
T |
C |
6: 121,302,012 (GRCm39) |
I198T |
probably damaging |
Het |
Slx9 |
G |
A |
10: 77,333,303 (GRCm39) |
R121* |
probably null |
Het |
Smyd5 |
C |
A |
6: 85,415,829 (GRCm39) |
C101* |
probably null |
Het |
Spata31d1d |
A |
G |
13: 59,874,421 (GRCm39) |
V1038A |
probably benign |
Het |
Stat6 |
T |
C |
10: 127,494,511 (GRCm39) |
S692P |
probably benign |
Het |
Tbc1d9 |
A |
T |
8: 83,998,180 (GRCm39) |
M1246L |
probably benign |
Het |
Tmprss5 |
T |
A |
9: 49,025,894 (GRCm39) |
|
probably null |
Het |
Trim12a |
A |
T |
7: 103,953,532 (GRCm39) |
M193K |
probably benign |
Het |
Ube2t |
T |
A |
1: 134,899,658 (GRCm39) |
L102H |
probably damaging |
Het |
Ubr1 |
G |
A |
2: 120,697,034 (GRCm39) |
R1623W |
probably damaging |
Het |
Ush2a |
T |
G |
1: 188,176,850 (GRCm39) |
M1338R |
probably damaging |
Het |
Usp36 |
A |
T |
11: 118,175,825 (GRCm39) |
L112Q |
probably damaging |
Het |
Vmn1r53 |
A |
G |
6: 90,200,757 (GRCm39) |
M189T |
probably benign |
Het |
Vmn1r54 |
T |
C |
6: 90,246,668 (GRCm39) |
V194A |
probably benign |
Het |
Vmn2r33 |
A |
G |
7: 7,554,192 (GRCm39) |
V787A |
probably damaging |
Het |
Vps26a |
A |
G |
10: 62,300,458 (GRCm39) |
I236T |
probably damaging |
Het |
Vwde |
A |
T |
6: 13,195,996 (GRCm39) |
L343Q |
probably damaging |
Het |
Xdh |
A |
G |
17: 74,205,369 (GRCm39) |
V1032A |
probably damaging |
Het |
Zan |
A |
G |
5: 137,393,882 (GRCm39) |
F4523S |
unknown |
Het |
Zfand5 |
T |
A |
19: 21,254,387 (GRCm39) |
V66E |
probably benign |
Het |
Zfp658 |
T |
A |
7: 43,222,798 (GRCm39) |
C358S |
possibly damaging |
Het |
Zfp977 |
T |
A |
7: 42,232,072 (GRCm39) |
R64W |
probably damaging |
Het |
Zfp995 |
C |
T |
17: 22,099,172 (GRCm39) |
S354N |
probably benign |
Het |
|
Other mutations in Pcdhgb7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03134:Pcdhgb7
|
UTSW |
18 |
37,884,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R3820:Pcdhgb7
|
UTSW |
18 |
37,885,286 (GRCm39) |
missense |
possibly damaging |
0.79 |
R3821:Pcdhgb7
|
UTSW |
18 |
37,885,286 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4014:Pcdhgb7
|
UTSW |
18 |
37,885,416 (GRCm39) |
missense |
probably benign |
0.01 |
R4223:Pcdhgb7
|
UTSW |
18 |
37,886,856 (GRCm39) |
missense |
probably benign |
0.06 |
R4224:Pcdhgb7
|
UTSW |
18 |
37,886,856 (GRCm39) |
missense |
probably benign |
0.06 |
R4225:Pcdhgb7
|
UTSW |
18 |
37,886,856 (GRCm39) |
missense |
probably benign |
0.06 |
R4366:Pcdhgb7
|
UTSW |
18 |
37,887,125 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4622:Pcdhgb7
|
UTSW |
18 |
37,886,183 (GRCm39) |
missense |
probably benign |
0.00 |
R5117:Pcdhgb7
|
UTSW |
18 |
37,885,939 (GRCm39) |
missense |
probably damaging |
0.99 |
R5226:Pcdhgb7
|
UTSW |
18 |
37,885,577 (GRCm39) |
missense |
probably benign |
0.32 |
R5253:Pcdhgb7
|
UTSW |
18 |
37,886,150 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5317:Pcdhgb7
|
UTSW |
18 |
37,885,887 (GRCm39) |
missense |
probably benign |
0.01 |
R6183:Pcdhgb7
|
UTSW |
18 |
37,885,315 (GRCm39) |
missense |
probably damaging |
0.97 |
R6497:Pcdhgb7
|
UTSW |
18 |
37,886,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R6590:Pcdhgb7
|
UTSW |
18 |
37,886,050 (GRCm39) |
missense |
probably benign |
0.00 |
R6690:Pcdhgb7
|
UTSW |
18 |
37,886,050 (GRCm39) |
missense |
probably benign |
0.00 |
R7022:Pcdhgb7
|
UTSW |
18 |
37,886,086 (GRCm39) |
missense |
probably damaging |
0.98 |
R7703:Pcdhgb7
|
UTSW |
18 |
37,885,321 (GRCm39) |
missense |
probably benign |
|
R8473:Pcdhgb7
|
UTSW |
18 |
37,886,852 (GRCm39) |
missense |
probably benign |
0.00 |
R8859:Pcdhgb7
|
UTSW |
18 |
37,886,349 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8873:Pcdhgb7
|
UTSW |
18 |
37,886,575 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8970:Pcdhgb7
|
UTSW |
18 |
37,885,631 (GRCm39) |
missense |
probably benign |
0.00 |
R9280:Pcdhgb7
|
UTSW |
18 |
37,886,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R9370:Pcdhgb7
|
UTSW |
18 |
37,884,937 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9439:Pcdhgb7
|
UTSW |
18 |
37,884,917 (GRCm39) |
missense |
probably benign |
0.06 |
R9523:Pcdhgb7
|
UTSW |
18 |
37,886,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R9803:Pcdhgb7
|
UTSW |
18 |
37,885,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTCAGCGTGGATTCGGAG -3'
(R):5'- TGAGTAGTACCAGTACGGGG -3'
Sequencing Primer
(F):5'- TTCGGAGAGCGGGGACTTAC -3'
(R):5'- GCAGTCAGCATCAGGTGG -3'
|
Posted On |
2021-10-11 |