Incidental Mutation 'R7914:Pcdhga3'
| ID |
647979 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga3
|
| Ensembl Gene |
ENSMUSG00000104346 |
| Gene Name |
protocadherin gamma subfamily A, 3 |
| Synonyms |
|
| MMRRC Submission |
045962-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R7914 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37807388-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37808013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 155
(F155L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194544]
|
| AlphaFold |
Q91XY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073447
AA Change: F155L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
AA Change: F155L
| 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: 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: ENSMUST00000194544
|
| SMART Domains |
Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (39/39) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
G |
T |
10: 100,428,538 (GRCm39) |
V12F |
probably benign |
Het |
| Adnp2 |
T |
A |
18: 80,174,056 (GRCm39) |
R118W |
probably damaging |
Het |
| Apaf1 |
G |
A |
10: 90,896,095 (GRCm39) |
R337C |
probably damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,225,032 (GRCm39) |
L59P |
probably damaging |
Het |
| B020011L13Rik |
A |
G |
1: 117,729,162 (GRCm39) |
E223G |
probably benign |
Het |
| Bcl6 |
T |
C |
16: 23,788,761 (GRCm39) |
R536G |
possibly damaging |
Het |
| Bltp1 |
A |
T |
3: 37,000,432 (GRCm39) |
N1204Y |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,894,851 (GRCm39) |
E582G |
probably benign |
Het |
| Ccdc136 |
A |
G |
6: 29,419,306 (GRCm39) |
N942S |
probably damaging |
Het |
| Ccdc81 |
A |
C |
7: 89,524,988 (GRCm39) |
M531R |
possibly damaging |
Het |
| Cep78 |
T |
C |
19: 15,953,672 (GRCm39) |
E283G |
probably benign |
Het |
| Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
| E230025N22Rik |
C |
A |
18: 36,828,605 (GRCm39) |
R24S |
possibly damaging |
Het |
| Epb41l1 |
T |
A |
2: 156,364,128 (GRCm39) |
M879K |
probably benign |
Het |
| Fam135a |
T |
C |
1: 24,065,760 (GRCm39) |
Y1226C |
probably damaging |
Het |
| Fbxo11 |
T |
C |
17: 88,320,031 (GRCm39) |
E151G |
|
Het |
| Herc6 |
A |
G |
6: 57,584,106 (GRCm39) |
T322A |
probably benign |
Het |
| Inka1 |
T |
C |
9: 107,862,761 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,849,122 (GRCm39) |
Q2110L |
probably benign |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lrrc19 |
T |
A |
4: 94,526,537 (GRCm39) |
H340L |
probably damaging |
Het |
| Mkks |
A |
T |
2: 136,722,876 (GRCm39) |
F94I |
probably damaging |
Het |
| Pdlim1 |
T |
A |
19: 40,240,445 (GRCm39) |
I53F |
probably damaging |
Het |
| Pttg1 |
A |
T |
11: 43,316,421 (GRCm39) |
L26Q |
probably benign |
Het |
| Rasa4 |
T |
A |
5: 136,130,510 (GRCm39) |
|
probably benign |
Het |
| Rsbn1l |
A |
G |
5: 21,110,896 (GRCm39) |
S481P |
probably damaging |
Het |
| Sae1 |
C |
A |
7: 16,121,648 (GRCm39) |
G10C |
unknown |
Het |
| Samd15 |
T |
C |
12: 87,248,559 (GRCm39) |
S415P |
probably damaging |
Het |
| Scn7a |
T |
A |
2: 66,530,294 (GRCm39) |
I684F |
probably damaging |
Het |
| Sec23b |
T |
A |
2: 144,406,565 (GRCm39) |
M120K |
probably benign |
Het |
| Slc20a1 |
G |
A |
2: 129,049,757 (GRCm39) |
D340N |
probably benign |
Het |
| Slf2 |
T |
A |
19: 44,947,499 (GRCm39) |
M821K |
possibly damaging |
Het |
| Suv39h2 |
G |
A |
2: 3,465,453 (GRCm39) |
R301* |
probably null |
Het |
| Tgfbi |
A |
G |
13: 56,777,502 (GRCm39) |
T329A |
probably damaging |
Het |
| Tmprss12 |
T |
C |
15: 100,183,111 (GRCm39) |
F151S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,747,525 (GRCm39) |
D4508G |
probably benign |
Het |
| Tyk2 |
C |
A |
9: 21,032,851 (GRCm39) |
C304F |
probably benign |
Het |
| Vmn1r121 |
T |
A |
7: 20,831,589 (GRCm39) |
T284S |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,679,100 (GRCm39) |
I708T |
possibly damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,041,526 (GRCm39) |
D396E |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,239,062 (GRCm39) |
|
probably null |
Het |
| Zic4 |
T |
G |
9: 91,266,181 (GRCm39) |
V275G |
probably damaging |
Het |
|
| Other mutations in Pcdhga3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00934:Pcdhga3
|
APN |
18 |
37,808,486 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2863:Pcdhga3
|
UTSW |
18 |
37,807,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4446:Pcdhga3
|
UTSW |
18 |
37,808,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4581:Pcdhga3
|
UTSW |
18 |
37,809,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4747:Pcdhga3
|
UTSW |
18 |
37,809,799 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4964:Pcdhga3
|
UTSW |
18 |
37,809,154 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5165:Pcdhga3
|
UTSW |
18 |
37,808,723 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5210:Pcdhga3
|
UTSW |
18 |
37,808,963 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5370:Pcdhga3
|
UTSW |
18 |
37,808,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5402:Pcdhga3
|
UTSW |
18 |
37,808,747 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5610:Pcdhga3
|
UTSW |
18 |
37,808,276 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5782:Pcdhga3
|
UTSW |
18 |
37,809,353 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5889:Pcdhga3
|
UTSW |
18 |
37,809,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6058:Pcdhga3
|
UTSW |
18 |
37,808,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6127:Pcdhga3
|
UTSW |
18 |
37,807,757 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6307:Pcdhga3
|
UTSW |
18 |
37,809,674 (GRCm39) |
unclassified |
probably benign |
|
|
R6893:Pcdhga3
|
UTSW |
18 |
37,809,598 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7013:Pcdhga3
|
UTSW |
18 |
37,808,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7174:Pcdhga3
|
UTSW |
18 |
37,808,980 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7448:Pcdhga3
|
UTSW |
18 |
37,808,917 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7492:Pcdhga3
|
UTSW |
18 |
37,809,178 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7509:Pcdhga3
|
UTSW |
18 |
37,808,910 (GRCm39) |
nonsense |
probably null |
|
|
R7984:Pcdhga3
|
UTSW |
18 |
37,809,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8782:Pcdhga3
|
UTSW |
18 |
37,807,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9157:Pcdhga3
|
UTSW |
18 |
37,809,229 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9169:Pcdhga3
|
UTSW |
18 |
37,809,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9436:Pcdhga3
|
UTSW |
18 |
37,808,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9437:Pcdhga3
|
UTSW |
18 |
37,808,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9588:Pcdhga3
|
UTSW |
18 |
37,808,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9767:Pcdhga3
|
UTSW |
18 |
37,808,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9778:Pcdhga3
|
UTSW |
18 |
37,807,786 (GRCm39) |
missense |
probably benign |
0.42 |
|
Z1177:Pcdhga3
|
UTSW |
18 |
37,809,674 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCAACATCTCCAAGGAC -3'
(R):5'- CAACTTGCTGGTGTGCACAG -3'
Sequencing Primer
(F):5'- CCAGAGGTAAATCTCAGCTTTTC -3'
(R):5'- CTGGTGTGCACAGGGTCTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation