Incidental Mutation 'R6980:Pcdhgb5'
| ID |
543808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgb5
|
| Ensembl Gene |
ENSMUSG00000103749 |
| Gene Name |
protocadherin gamma subfamily B, 5 |
| Synonyms |
|
| MMRRC Submission |
045088-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R6980 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37864062-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37866592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 796
(H796Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192535]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000195112]
[ENSMUST00000195363]
[ENSMUST00000195823]
|
| AlphaFold |
Q91XX5 |
| 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 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 |
possibly damaging
Transcript: ENSMUST00000192535
AA Change: H796Y
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749
AA Change: H796Y
| 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: 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
C |
A |
2: 25,330,878 (GRCm39) |
R1189S |
possibly damaging |
Het |
| Abcf2 |
T |
C |
5: 24,770,970 (GRCm39) |
Q594R |
probably benign |
Het |
| Abhd18 |
G |
A |
3: 40,888,215 (GRCm39) |
S353N |
probably benign |
Het |
| Adrb1 |
G |
T |
19: 56,712,046 (GRCm39) |
A415S |
probably benign |
Het |
| Art2b |
T |
C |
7: 101,229,680 (GRCm39) |
N73S |
probably benign |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
CACTGGTTCTGTGGT |
CACTGGTTCTGTGGTTACTGGTTCTGTGGT |
3: 95,795,480 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC |
ACTGGTTCTGTGGTCTCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC |
3: 95,795,451 (GRCm39) |
|
probably benign |
Het |
| Cacna1a |
A |
G |
8: 85,338,914 (GRCm39) |
M1753V |
possibly damaging |
Het |
| Cbx8 |
A |
T |
11: 118,930,287 (GRCm39) |
I102N |
possibly damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,238,620 (GRCm39) |
E332D |
probably benign |
Het |
| Cdhr17 |
T |
A |
5: 17,031,944 (GRCm39) |
V533D |
possibly damaging |
Het |
| Cfap74 |
G |
A |
4: 155,550,809 (GRCm39) |
|
probably benign |
Het |
| Chat |
A |
T |
14: 32,146,111 (GRCm39) |
M354K |
probably benign |
Het |
| Cmas |
A |
G |
6: 142,702,526 (GRCm39) |
T10A |
probably damaging |
Het |
| Cyb561d1 |
A |
T |
3: 108,107,475 (GRCm39) |
L51H |
probably benign |
Het |
| D030056L22Rik |
A |
T |
19: 18,694,629 (GRCm39) |
N128I |
probably damaging |
Het |
| D130043K22Rik |
G |
T |
13: 25,048,764 (GRCm39) |
A423S |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,475,795 (GRCm39) |
I1349T |
probably benign |
Het |
| Dnajb3 |
T |
G |
1: 88,132,736 (GRCm39) |
D222A |
probably damaging |
Het |
| Dtx1 |
T |
C |
5: 120,819,422 (GRCm39) |
E592G |
probably damaging |
Het |
| Dzank1 |
C |
T |
2: 144,332,056 (GRCm39) |
G427R |
possibly damaging |
Het |
| E130308A19Rik |
A |
C |
4: 59,719,991 (GRCm39) |
K508Q |
probably damaging |
Het |
| Eif4e1b |
T |
A |
13: 54,931,916 (GRCm39) |
|
probably null |
Het |
| Ell2 |
A |
G |
13: 75,904,495 (GRCm39) |
M159V |
probably null |
Het |
| Eml4 |
G |
A |
17: 83,758,446 (GRCm39) |
V377I |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,207,773 (GRCm39) |
S2466T |
probably benign |
Het |
| Gfpt1 |
C |
A |
6: 87,054,071 (GRCm39) |
T426K |
probably damaging |
Het |
| Gm49355 |
T |
C |
14: 12,307,173 (GRCm38) |
|
probably benign |
Het |
| Gm5114 |
T |
C |
7: 39,058,624 (GRCm39) |
I332V |
probably benign |
Het |
| Gpr15 |
T |
A |
16: 58,539,105 (GRCm39) |
|
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,225,684 (GRCm39) |
E2157G |
probably benign |
Het |
| Gramd4 |
A |
G |
15: 86,016,170 (GRCm39) |
N482S |
probably benign |
Het |
| Hfm1 |
A |
T |
5: 107,028,343 (GRCm39) |
I829K |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,139,916 (GRCm39) |
E728D |
possibly damaging |
Het |
| Ifngr2 |
T |
A |
16: 91,356,895 (GRCm39) |
V143E |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,414,730 (GRCm39) |
D1390G |
probably benign |
Het |
| Kdf1 |
A |
T |
4: 133,256,138 (GRCm39) |
D285V |
probably damaging |
Het |
| Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
| Mdn1 |
G |
A |
4: 32,726,942 (GRCm39) |
|
probably null |
Het |
| Megf11 |
A |
G |
9: 64,613,132 (GRCm39) |
E1016G |
probably damaging |
Het |
| Mixl1 |
G |
A |
1: 180,524,453 (GRCm39) |
A42V |
possibly damaging |
Het |
| Mpp2 |
A |
G |
11: 101,950,154 (GRCm39) |
W567R |
probably damaging |
Het |
| Mrgpra6 |
A |
G |
7: 46,838,697 (GRCm39) |
L136P |
probably damaging |
Het |
| Mroh7 |
T |
A |
4: 106,557,434 (GRCm39) |
I759L |
probably benign |
Het |
| Nrxn2 |
A |
G |
19: 6,500,609 (GRCm39) |
D277G |
probably benign |
Het |
| Nup210l |
A |
T |
3: 90,027,234 (GRCm39) |
K205N |
probably benign |
Het |
| Or4g17 |
A |
G |
2: 111,209,620 (GRCm39) |
I92V |
possibly damaging |
Het |
| Or4p4b-ps1 |
A |
G |
2: 88,453,939 (GRCm39) |
*97W |
probably null |
Het |
| Or52e19b |
T |
C |
7: 103,032,303 (GRCm39) |
E302G |
probably benign |
Het |
| Or5al6 |
A |
T |
2: 85,976,681 (GRCm39) |
Y132* |
probably null |
Het |
| Oxnad1 |
C |
T |
14: 31,807,576 (GRCm39) |
|
probably benign |
Het |
| Pamr1 |
C |
T |
2: 102,472,549 (GRCm39) |
T616I |
probably benign |
Het |
| Pdlim7 |
G |
T |
13: 55,656,041 (GRCm39) |
D126E |
probably benign |
Het |
| Pfdn2 |
C |
T |
1: 171,185,465 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,216,032 (GRCm39) |
|
probably null |
Het |
| Pms2 |
A |
T |
5: 143,848,842 (GRCm39) |
I43L |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
| Ptpn4 |
T |
A |
1: 119,671,151 (GRCm39) |
E202D |
possibly damaging |
Het |
| Rnf40 |
T |
A |
7: 127,193,849 (GRCm39) |
V455E |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,266,169 (GRCm39) |
N585S |
probably benign |
Het |
| Rrp12 |
A |
G |
19: 41,878,582 (GRCm39) |
S188P |
probably damaging |
Het |
| Rsbn1l |
T |
A |
5: 21,101,482 (GRCm39) |
H686L |
probably benign |
Het |
| Runx2 |
C |
T |
17: 45,046,203 (GRCm39) |
V107I |
possibly damaging |
Het |
| Rusc2 |
A |
G |
4: 43,422,846 (GRCm39) |
I994M |
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,808,812 (GRCm39) |
D420V |
probably benign |
Het |
| Sash1 |
T |
C |
10: 8,605,612 (GRCm39) |
Q926R |
probably benign |
Het |
| Scgb3a2 |
T |
A |
18: 43,897,499 (GRCm39) |
I6N |
probably damaging |
Het |
| Sdc3 |
T |
A |
4: 130,544,233 (GRCm39) |
|
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,808,755 (GRCm39) |
V658A |
probably benign |
Het |
| Slc25a39 |
A |
G |
11: 102,296,601 (GRCm39) |
V81A |
probably damaging |
Het |
| Snai2 |
T |
A |
16: 14,526,113 (GRCm39) |
S255T |
possibly damaging |
Het |
| Sorbs1 |
A |
T |
19: 40,316,060 (GRCm39) |
Y371* |
probably null |
Het |
| Spata31d1b |
A |
T |
13: 59,863,236 (GRCm39) |
H128L |
probably benign |
Het |
| Spdl1 |
A |
T |
11: 34,721,706 (GRCm39) |
M1K |
probably null |
Het |
| Tgm3 |
T |
A |
2: 129,868,697 (GRCm39) |
N211K |
probably benign |
Het |
| Tmem116 |
T |
C |
5: 121,606,050 (GRCm39) |
|
probably null |
Het |
| Tmem132e |
T |
A |
11: 82,329,212 (GRCm39) |
|
probably null |
Het |
| Tmem53 |
T |
C |
4: 117,125,705 (GRCm39) |
C251R |
probably damaging |
Het |
| Trcg1 |
A |
C |
9: 57,152,856 (GRCm39) |
D551A |
probably damaging |
Het |
| Trp63 |
T |
A |
16: 25,620,843 (GRCm39) |
F12I |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,709,401 (GRCm39) |
|
probably null |
Het |
| Tubgcp4 |
T |
C |
2: 121,025,946 (GRCm39) |
V596A |
probably benign |
Het |
| Ugt2a3 |
A |
C |
5: 87,473,491 (GRCm39) |
H475Q |
probably damaging |
Het |
| Unc79 |
G |
A |
12: 103,025,759 (GRCm39) |
R382K |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,513,662 (GRCm39) |
H327R |
possibly damaging |
Het |
| Vmn2r7 |
G |
A |
3: 64,623,987 (GRCm39) |
T111I |
possibly damaging |
Het |
| Zfp318 |
T |
A |
17: 46,708,138 (GRCm39) |
Y399N |
probably damaging |
Het |
|
| Other mutations in Pcdhgb5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R4200:Pcdhgb5
|
UTSW |
18 |
37,865,035 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4205:Pcdhgb5
|
UTSW |
18 |
37,865,716 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4880:Pcdhgb5
|
UTSW |
18 |
37,865,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5482:Pcdhgb5
|
UTSW |
18 |
37,864,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Pcdhgb5
|
UTSW |
18 |
37,864,690 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5683:Pcdhgb5
|
UTSW |
18 |
37,864,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5699:Pcdhgb5
|
UTSW |
18 |
37,864,970 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6127:Pcdhgb5
|
UTSW |
18 |
37,865,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6216:Pcdhgb5
|
UTSW |
18 |
37,864,981 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6279:Pcdhgb5
|
UTSW |
18 |
37,865,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6300:Pcdhgb5
|
UTSW |
18 |
37,865,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6441:Pcdhgb5
|
UTSW |
18 |
37,865,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6675:Pcdhgb5
|
UTSW |
18 |
37,864,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6678:Pcdhgb5
|
UTSW |
18 |
37,864,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6856:Pcdhgb5
|
UTSW |
18 |
37,866,457 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6942:Pcdhgb5
|
UTSW |
18 |
37,865,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6976:Pcdhgb5
|
UTSW |
18 |
37,864,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7061:Pcdhgb5
|
UTSW |
18 |
37,864,976 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7506:Pcdhgb5
|
UTSW |
18 |
37,865,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7698:Pcdhgb5
|
UTSW |
18 |
37,865,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7760:Pcdhgb5
|
UTSW |
18 |
37,864,690 (GRCm39) |
missense |
not run |
|
|
R7776:Pcdhgb5
|
UTSW |
18 |
37,866,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8117:Pcdhgb5
|
UTSW |
18 |
37,866,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8273:Pcdhgb5
|
UTSW |
18 |
37,865,240 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8836:Pcdhgb5
|
UTSW |
18 |
37,865,260 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8854:Pcdhgb5
|
UTSW |
18 |
37,865,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9063:Pcdhgb5
|
UTSW |
18 |
37,864,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9420:Pcdhgb5
|
UTSW |
18 |
37,864,838 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9490:Pcdhgb5
|
UTSW |
18 |
37,865,240 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9567:Pcdhgb5
|
UTSW |
18 |
37,864,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9620:Pcdhgb5
|
UTSW |
18 |
37,864,486 (GRCm39) |
nonsense |
probably null |
|
|
R9655:Pcdhgb5
|
UTSW |
18 |
37,865,122 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGAATTGCTTTCAGCCTGG -3'
(R):5'- ACCCAACTCGACTGATGAAGG -3'
Sequencing Primer
(F):5'- GGTTTTCCCCAACTATAGTGAAGG -3'
(R):5'- GGGAAACAGCACTTTCTGAGCC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation