Incidental Mutation 'R4235:Pcdhga5'
ID |
321096 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhga5
|
Ensembl Gene |
ENSMUSG00000103567 |
Gene Name |
protocadherin gamma subfamily A, 5 |
Synonyms |
|
MMRRC Submission |
041052-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.192)
|
Stock # |
R4235 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37827433-37974926 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37829001 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 483
(D483G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141893
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194544]
[ENSMUST00000194190]
[ENSMUST00000194418]
[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 |
possibly damaging
Transcript: ENSMUST00000193414
AA Change: D483G
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000141893 Gene: ENSMUSG00000103567 AA Change: D483G
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 |
noncoding transcript
Transcript: ENSMUST00000193631
|
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: 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: 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: 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 |
|
Meta Mutation Damage Score |
0.1166 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
97% (68/70) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
5730596B20Rik |
G |
T |
6: 52,155,941 (GRCm39) |
|
probably benign |
Het |
Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
Atp7b |
A |
G |
8: 22,501,039 (GRCm39) |
Y955H |
possibly damaging |
Het |
Bnc2 |
A |
G |
4: 84,211,751 (GRCm39) |
V231A |
probably damaging |
Het |
Bod1l |
A |
G |
5: 41,978,798 (GRCm39) |
S839P |
probably damaging |
Het |
Casp8 |
T |
A |
1: 58,872,857 (GRCm39) |
H264Q |
possibly damaging |
Het |
Cc2d1b |
A |
T |
4: 108,482,549 (GRCm39) |
|
probably benign |
Het |
Cpne6 |
A |
T |
14: 55,751,057 (GRCm39) |
|
probably benign |
Het |
Ddx1 |
C |
T |
12: 13,273,858 (GRCm39) |
V590I |
possibly damaging |
Het |
Dgkd |
T |
A |
1: 87,859,704 (GRCm39) |
L774* |
probably null |
Het |
Fbxl2 |
T |
A |
9: 113,818,231 (GRCm39) |
N205I |
probably benign |
Het |
Fcgbpl1 |
T |
A |
7: 27,856,073 (GRCm39) |
D1953E |
probably damaging |
Het |
Fkbp15 |
A |
T |
4: 62,254,693 (GRCm39) |
I269K |
probably benign |
Het |
Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
Has1 |
G |
T |
17: 18,070,298 (GRCm39) |
R208S |
possibly damaging |
Het |
Hecw1 |
C |
G |
13: 14,491,724 (GRCm39) |
A423P |
probably benign |
Het |
Hspa12b |
T |
C |
2: 130,980,932 (GRCm39) |
V162A |
probably benign |
Het |
Ifi208 |
T |
G |
1: 173,510,477 (GRCm39) |
S211A |
probably benign |
Het |
Ighv6-3 |
T |
C |
12: 114,355,494 (GRCm39) |
E65G |
probably damaging |
Het |
Igkv9-120 |
A |
T |
6: 68,027,317 (GRCm39) |
D77V |
probably benign |
Het |
Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,372,549 (GRCm39) |
I932T |
probably damaging |
Het |
Krt17 |
T |
C |
11: 100,148,694 (GRCm39) |
T279A |
possibly damaging |
Het |
Lamp1 |
T |
C |
8: 13,217,192 (GRCm39) |
V67A |
possibly damaging |
Het |
Limk1 |
T |
C |
5: 134,699,332 (GRCm39) |
I142V |
probably benign |
Het |
Mamdc2 |
T |
C |
19: 23,351,381 (GRCm39) |
N182D |
possibly damaging |
Het |
Mcpt1 |
G |
A |
14: 56,256,017 (GRCm39) |
|
probably null |
Het |
Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
Mfsd10 |
G |
T |
5: 34,792,969 (GRCm39) |
T44N |
probably damaging |
Het |
Mrps27 |
T |
C |
13: 99,541,549 (GRCm39) |
S218P |
probably damaging |
Het |
Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
Neil2 |
A |
C |
14: 63,429,290 (GRCm39) |
M1R |
probably null |
Het |
Nelfcd |
T |
C |
2: 174,268,841 (GRCm39) |
F587L |
probably damaging |
Het |
Nfil3 |
T |
C |
13: 53,122,835 (GRCm39) |
D23G |
probably benign |
Het |
Nit2 |
T |
C |
16: 56,977,523 (GRCm39) |
K169R |
probably benign |
Het |
Nxt1 |
T |
C |
2: 148,517,267 (GRCm39) |
S3P |
probably benign |
Het |
Ogt |
A |
G |
X: 100,711,131 (GRCm39) |
N434D |
probably damaging |
Het |
Or56a3 |
T |
A |
7: 104,734,994 (GRCm39) |
S24T |
possibly damaging |
Het |
Pramel25 |
G |
C |
4: 143,521,344 (GRCm39) |
C320S |
probably damaging |
Het |
Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
Rsl1 |
T |
C |
13: 67,325,226 (GRCm39) |
|
probably null |
Het |
Sobp |
G |
A |
10: 42,898,896 (GRCm39) |
H230Y |
probably damaging |
Het |
Sptan1 |
A |
G |
2: 29,916,600 (GRCm39) |
E2096G |
probably damaging |
Het |
Tie1 |
G |
T |
4: 118,335,602 (GRCm39) |
S797* |
probably null |
Het |
Tmem266 |
T |
C |
9: 55,325,391 (GRCm39) |
I186T |
probably damaging |
Het |
Tmem38b |
T |
C |
4: 53,840,710 (GRCm39) |
C66R |
probably damaging |
Het |
Tnfaip6 |
T |
C |
2: 51,940,876 (GRCm39) |
F139S |
probably damaging |
Het |
Tnrc6a |
T |
C |
7: 122,770,903 (GRCm39) |
S898P |
probably benign |
Het |
Trim24 |
A |
G |
6: 37,941,675 (GRCm39) |
D911G |
probably damaging |
Het |
Tyw5 |
T |
C |
1: 57,427,647 (GRCm39) |
|
probably benign |
Het |
Ubr3 |
C |
T |
2: 69,846,729 (GRCm39) |
Q1651* |
probably null |
Het |
Unc13c |
T |
A |
9: 73,438,234 (GRCm39) |
I1943F |
possibly damaging |
Het |
Usp47 |
T |
A |
7: 111,709,255 (GRCm39) |
S1334T |
probably damaging |
Het |
Vmn1r215 |
T |
A |
13: 23,260,101 (GRCm39) |
V47E |
probably benign |
Het |
Vmn1r224 |
T |
A |
17: 20,639,624 (GRCm39) |
M67K |
possibly damaging |
Het |
Wdfy3 |
T |
A |
5: 102,070,500 (GRCm39) |
|
probably null |
Het |
Zfc3h1 |
T |
C |
10: 115,254,704 (GRCm39) |
Y1433H |
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 |
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 |
R8773:Pcdhga5
|
UTSW |
18 |
37,829,823 (GRCm39) |
missense |
probably benign |
0.07 |
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'- CGTTGTTGACCGTGGAACTC -3'
(R):5'- TCATTCTGGTCCAGCACAAAC -3'
Sequencing Primer
(F):5'- GTTGACCGTGGAACTCCTCCC -3'
(R):5'- AGCTCATGGACACATTGCTG -3'
|
Posted On |
2015-06-12 |