Incidental Mutation 'R8780:Pcdhga5'
ID |
670224 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhga5
|
Ensembl Gene |
ENSMUSG00000103567 |
Gene Name |
protocadherin gamma subfamily A, 5 |
Synonyms |
|
MMRRC Submission |
068604-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.231)
|
Stock # |
R8780 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37827433-37974926 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 37828826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 425
(V425I)
|
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: V425I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000141893 Gene: ENSMUSG00000103567 AA Change: V425I
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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (38/38) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace3 |
A |
G |
11: 105,888,364 (GRCm39) |
D358G |
probably damaging |
Het |
Actmap |
T |
C |
7: 26,900,503 (GRCm39) |
S161P |
probably benign |
Het |
Adgrd1 |
G |
A |
5: 129,174,138 (GRCm39) |
|
probably benign |
Het |
Aff4 |
C |
A |
11: 53,271,444 (GRCm39) |
T327K |
probably damaging |
Het |
Ajap1 |
A |
G |
4: 153,470,961 (GRCm39) |
V282A |
probably damaging |
Het |
Arrb1 |
A |
G |
7: 99,240,568 (GRCm39) |
D194G |
probably benign |
Het |
Atp1a3 |
T |
C |
7: 24,680,979 (GRCm39) |
N836S |
probably damaging |
Het |
C1ql3 |
A |
G |
2: 13,015,567 (GRCm39) |
V31A |
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,896,692 (GRCm39) |
T1530A |
probably damaging |
Het |
Cenpc1 |
A |
T |
5: 86,164,209 (GRCm39) |
I804K |
probably damaging |
Het |
Chmp2b |
G |
A |
16: 65,359,422 (GRCm39) |
|
probably benign |
Het |
Chrm5 |
T |
A |
2: 112,310,453 (GRCm39) |
E221V |
possibly damaging |
Het |
Col22a1 |
A |
T |
15: 71,878,796 (GRCm39) |
H120Q |
probably damaging |
Het |
Esp16 |
C |
T |
17: 39,850,729 (GRCm39) |
A36V |
probably damaging |
Het |
Fn1 |
A |
T |
1: 71,682,308 (GRCm39) |
S283T |
probably benign |
Het |
Hipk3 |
A |
G |
2: 104,264,179 (GRCm39) |
L773S |
probably damaging |
Het |
Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
Morn3 |
A |
G |
5: 123,175,825 (GRCm39) |
W188R |
probably damaging |
Het |
Msantd2 |
T |
G |
9: 37,434,798 (GRCm39) |
L547R |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Obi1 |
A |
T |
14: 104,717,082 (GRCm39) |
C430* |
probably null |
Het |
Or4a15 |
A |
T |
2: 89,193,652 (GRCm39) |
N40K |
probably damaging |
Het |
Or7e166 |
T |
C |
9: 19,624,653 (GRCm39) |
F177L |
possibly damaging |
Het |
Pdxk |
T |
A |
10: 78,283,786 (GRCm39) |
Y136F |
probably benign |
Het |
Prr14 |
T |
C |
7: 127,075,410 (GRCm39) |
F503L |
probably benign |
Het |
Prss54 |
T |
C |
8: 96,286,057 (GRCm39) |
I339V |
probably benign |
Het |
Repin1 |
T |
C |
6: 48,574,073 (GRCm39) |
I334T |
probably damaging |
Het |
Runx3 |
A |
G |
4: 134,882,720 (GRCm39) |
D152G |
probably damaging |
Het |
She |
T |
A |
3: 89,739,256 (GRCm39) |
I149N |
probably damaging |
Het |
Stra6 |
A |
G |
9: 58,042,254 (GRCm39) |
|
probably benign |
Het |
Svil |
A |
G |
18: 5,063,449 (GRCm39) |
T907A |
probably benign |
Het |
Syvn1 |
A |
G |
19: 6,100,393 (GRCm39) |
D288G |
probably damaging |
Het |
Tacc1 |
T |
C |
8: 25,672,077 (GRCm39) |
S384G |
probably benign |
Het |
Tmc8 |
ACTTCCT |
ACT |
11: 117,681,558 (GRCm39) |
|
probably null |
Het |
Trhr |
T |
C |
15: 44,061,149 (GRCm39) |
I223T |
possibly damaging |
Het |
Vmn2r45 |
A |
G |
7: 8,484,371 (GRCm39) |
I478T |
possibly damaging |
Het |
Zbtb3 |
G |
T |
19: 8,781,173 (GRCm39) |
R262M |
possibly damaging |
Het |
Zfp516 |
T |
C |
18: 83,006,080 (GRCm39) |
S995P |
probably benign |
Het |
Zfp985 |
A |
G |
4: 147,668,412 (GRCm39) |
I427V |
possibly damaging |
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 |
R8773:Pcdhga5
|
UTSW |
18 |
37,829,823 (GRCm39) |
missense |
probably benign |
0.07 |
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'- TACCCGGAACCATAATTGCG -3'
(R):5'- ATTTTCAGCCAGGGAGTAAGTG -3'
Sequencing Primer
(F):5'- CGGAACCATAATTGCGCTTTTCAG -3'
(R):5'- AGTGACTTGGGCGTTATCACCAC -3'
|
Posted On |
2021-04-30 |