Incidental Mutation 'R8773:Pcdhga5'
ID |
664571 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhga5
|
Ensembl Gene |
ENSMUSG00000103567 |
Gene Name |
protocadherin gamma subfamily A, 5 |
Synonyms |
|
MMRRC Submission |
068627-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.231)
|
Stock # |
R8773 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37827433-37974926 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37829823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 757
(I757T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141893
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000195112]
|
AlphaFold |
Q91XY3 |
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: 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: 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
AA Change: I757T
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000141893 Gene: ENSMUSG00000103567 AA Change: I757T
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (63/64) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
A |
T |
2: 151,314,062 (GRCm39) |
S539T |
possibly damaging |
Het |
Abcc6 |
C |
T |
7: 45,634,569 (GRCm39) |
R1136Q |
probably benign |
Het |
Abhd12b |
A |
C |
12: 70,213,708 (GRCm39) |
|
probably null |
Het |
Agk |
T |
G |
6: 40,334,050 (GRCm39) |
V98G |
possibly damaging |
Het |
Apbb2 |
A |
G |
5: 66,609,252 (GRCm39) |
S132P |
probably damaging |
Het |
Apc2 |
T |
C |
10: 80,142,046 (GRCm39) |
S322P |
probably damaging |
Het |
Armc3 |
T |
C |
2: 19,293,667 (GRCm39) |
V486A |
probably benign |
Het |
Asxl2 |
A |
G |
12: 3,507,200 (GRCm39) |
K131E |
probably damaging |
Het |
Atp13a4 |
A |
G |
16: 29,260,398 (GRCm39) |
V560A |
|
Het |
Bnc1 |
C |
T |
7: 81,623,719 (GRCm39) |
G503S |
probably damaging |
Het |
Bsn |
C |
A |
9: 107,987,704 (GRCm39) |
V2683F |
unknown |
Het |
Btbd7 |
A |
T |
12: 102,804,241 (GRCm39) |
N266K |
probably benign |
Het |
Ccdc121rt2 |
T |
C |
5: 112,597,681 (GRCm39) |
V76A |
probably benign |
Het |
Cdca7l |
G |
A |
12: 117,839,346 (GRCm39) |
D350N |
possibly damaging |
Het |
Cfap251 |
A |
G |
5: 123,411,913 (GRCm39) |
D515G |
probably benign |
Het |
Ciao2a |
A |
T |
9: 66,045,667 (GRCm39) |
N145I |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,696,171 (GRCm39) |
D3239V |
unknown |
Het |
Col9a1 |
T |
A |
1: 24,224,208 (GRCm39) |
I130N |
unknown |
Het |
Cr2 |
A |
G |
1: 194,840,913 (GRCm39) |
W460R |
probably damaging |
Het |
Cyb561d2 |
A |
G |
9: 107,417,583 (GRCm39) |
F56S |
probably damaging |
Het |
Dnaaf1 |
A |
G |
8: 120,302,194 (GRCm39) |
I32V |
probably benign |
Het |
Dnah11 |
T |
A |
12: 117,958,950 (GRCm39) |
T2978S |
possibly damaging |
Het |
Dsg2 |
T |
A |
18: 20,716,056 (GRCm39) |
D302E |
probably damaging |
Het |
Faf1 |
T |
A |
4: 109,699,507 (GRCm39) |
F351I |
possibly damaging |
Het |
Gimap8 |
C |
A |
6: 48,633,545 (GRCm39) |
Q455K |
probably benign |
Het |
Hps6 |
C |
G |
19: 45,994,141 (GRCm39) |
R693G |
possibly damaging |
Het |
Irx1 |
C |
T |
13: 72,107,635 (GRCm39) |
G349D |
probably damaging |
Het |
Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
Lcat |
T |
C |
8: 106,666,710 (GRCm39) |
T271A |
possibly damaging |
Het |
Mapkapk2 |
T |
C |
1: 130,983,679 (GRCm39) |
H308R |
probably damaging |
Het |
Mast1 |
A |
T |
8: 85,642,953 (GRCm39) |
N947K |
probably damaging |
Het |
Mpeg1 |
A |
T |
19: 12,440,419 (GRCm39) |
I626F |
probably damaging |
Het |
Mrtfa |
T |
C |
15: 80,902,274 (GRCm39) |
S349G |
possibly damaging |
Het |
Myh15 |
T |
C |
16: 49,015,900 (GRCm39) |
S1859P |
possibly damaging |
Het |
Nlrx1 |
A |
T |
9: 44,167,712 (GRCm39) |
D728E |
probably benign |
Het |
Or1j8 |
A |
G |
2: 36,192,387 (GRCm39) |
T279A |
probably benign |
Het |
Or8c19-ps1 |
G |
T |
9: 38,220,516 (GRCm39) |
V142F |
probably benign |
Het |
Pcdhb18 |
A |
T |
18: 37,624,562 (GRCm39) |
S631C |
probably damaging |
Het |
Pcdhga11 |
C |
A |
18: 37,890,364 (GRCm39) |
Y457* |
probably null |
Het |
Pcgf5 |
G |
A |
19: 36,389,348 (GRCm39) |
|
probably benign |
Het |
Pdf |
A |
G |
8: 107,775,100 (GRCm39) |
V44A |
possibly damaging |
Het |
Pip4p1 |
T |
C |
14: 51,166,503 (GRCm39) |
T194A |
possibly damaging |
Het |
Prtg |
A |
T |
9: 72,819,583 (GRCm39) |
*1192L |
probably null |
Het |
Ptk7 |
A |
G |
17: 46,877,193 (GRCm39) |
F955S |
possibly damaging |
Het |
Rbp3 |
C |
A |
14: 33,684,492 (GRCm39) |
Q1174K |
possibly damaging |
Het |
Rufy1 |
T |
C |
11: 50,321,796 (GRCm39) |
D46G |
possibly damaging |
Het |
Sbf2 |
A |
G |
7: 109,948,202 (GRCm39) |
V1216A |
probably benign |
Het |
Serpina11 |
A |
G |
12: 103,952,722 (GRCm39) |
V18A |
unknown |
Het |
Serpinb6a |
T |
A |
13: 34,115,543 (GRCm39) |
N47I |
probably damaging |
Het |
Shc2 |
T |
C |
10: 79,456,924 (GRCm39) |
H564R |
probably damaging |
Het |
Sirt7 |
T |
A |
11: 120,514,888 (GRCm39) |
R115* |
probably null |
Het |
Slc22a14 |
A |
T |
9: 119,059,290 (GRCm39) |
|
probably benign |
Het |
Stra8 |
T |
A |
6: 34,912,581 (GRCm39) |
S331T |
probably damaging |
Het |
Tm9sf2 |
A |
G |
14: 122,380,883 (GRCm39) |
T324A |
probably benign |
Het |
Tmem268 |
T |
C |
4: 63,498,530 (GRCm39) |
S224P |
probably benign |
Het |
Tns1 |
T |
C |
1: 73,976,407 (GRCm39) |
D1147G |
probably damaging |
Het |
Tomm22 |
C |
T |
15: 79,555,311 (GRCm39) |
|
probably benign |
Het |
Top1 |
A |
G |
2: 160,556,158 (GRCm39) |
Y539C |
probably damaging |
Het |
Tpp2 |
T |
A |
1: 44,009,552 (GRCm39) |
|
probably benign |
Het |
Trav3-1 |
T |
C |
14: 52,818,428 (GRCm39) |
V34A |
probably damaging |
Het |
Tspyl5 |
T |
C |
15: 33,687,238 (GRCm39) |
N236D |
possibly damaging |
Het |
Ttc41 |
A |
G |
10: 86,565,679 (GRCm39) |
D411G |
probably benign |
Het |
Vmn1r128 |
A |
T |
7: 21,083,922 (GRCm39) |
M209L |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,355,527 (GRCm39) |
D3429E |
probably benign |
Het |
Zfp418 |
A |
T |
7: 7,185,797 (GRCm39) |
T587S |
probably benign |
Het |
|
Other mutations in Pcdhga5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
PIT4581001:Pcdhga5
|
UTSW |
18 |
37,829,910 (GRCm39) |
missense |
probably benign |
0.01 |
R3775:Pcdhga5
|
UTSW |
18 |
37,828,167 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4232:Pcdhga5
|
UTSW |
18 |
37,829,001 (GRCm39) |
missense |
possibly damaging |
0.54 |
R4234:Pcdhga5
|
UTSW |
18 |
37,829,001 (GRCm39) |
missense |
possibly damaging |
0.54 |
R4235:Pcdhga5
|
UTSW |
18 |
37,829,001 (GRCm39) |
missense |
possibly damaging |
0.54 |
R4815:Pcdhga5
|
UTSW |
18 |
37,828,247 (GRCm39) |
missense |
probably damaging |
0.99 |
R4884:Pcdhga5
|
UTSW |
18 |
37,827,680 (GRCm39) |
missense |
probably damaging |
0.99 |
R5159:Pcdhga5
|
UTSW |
18 |
37,828,719 (GRCm39) |
missense |
probably benign |
0.24 |
R5279:Pcdhga5
|
UTSW |
18 |
37,827,774 (GRCm39) |
missense |
probably benign |
0.12 |
R5393:Pcdhga5
|
UTSW |
18 |
37,829,720 (GRCm39) |
missense |
probably benign |
0.25 |
R6271:Pcdhga5
|
UTSW |
18 |
37,829,735 (GRCm39) |
missense |
probably benign |
0.01 |
R6574:Pcdhga5
|
UTSW |
18 |
37,828,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R7727:Pcdhga5
|
UTSW |
18 |
37,828,098 (GRCm39) |
missense |
probably benign |
0.41 |
R7747:Pcdhga5
|
UTSW |
18 |
37,829,835 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7775:Pcdhga5
|
UTSW |
18 |
37,828,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R7778:Pcdhga5
|
UTSW |
18 |
37,828,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R7819:Pcdhga5
|
UTSW |
18 |
37,829,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R8745:Pcdhga5
|
UTSW |
18 |
37,828,974 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8780:Pcdhga5
|
UTSW |
18 |
37,828,826 (GRCm39) |
missense |
probably benign |
0.00 |
R8783:Pcdhga5
|
UTSW |
18 |
37,828,596 (GRCm39) |
missense |
probably benign |
0.00 |
R9072:Pcdhga5
|
UTSW |
18 |
37,829,537 (GRCm39) |
missense |
probably benign |
0.00 |
R9150:Pcdhga5
|
UTSW |
18 |
37,827,933 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Pcdhga5
|
UTSW |
18 |
37,828,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGACTGACTTAGGCAACCAC -3'
(R):5'- CTTAGTGAAAGAGAAAACTGACCTG -3'
Sequencing Primer
(F):5'- CACTCTACCTAGTGGTTTCGGTG -3'
(R):5'- AACTGACCTGAGCATCTCCGG -3'
|
Posted On |
2021-03-08 |