Incidental Mutation 'R9436:Pcdhga3'
| ID |
713307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga3
|
| Ensembl Gene |
ENSMUSG00000104346 |
| Gene Name |
protocadherin gamma subfamily A, 3 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R9436 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37807388-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37808144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 199
(R199H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194544]
|
| AlphaFold |
Q91XY5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073447
AA Change: R199H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
AA Change: R199H
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
A |
G |
19: 31,909,975 (GRCm39) |
T340A |
probably benign |
Het |
| Adamts2 |
G |
T |
11: 50,694,507 (GRCm39) |
R1098L |
probably benign |
Het |
| Add1 |
A |
T |
5: 34,763,273 (GRCm39) |
R154* |
probably null |
Het |
| Alpk1 |
A |
G |
3: 127,478,924 (GRCm39) |
V41A |
|
Het |
| Anapc1 |
T |
C |
2: 128,518,045 (GRCm39) |
T270A |
probably benign |
Het |
| Ankhd1 |
C |
A |
18: 36,694,041 (GRCm39) |
A84D |
probably benign |
Het |
| Ankhd1 |
T |
A |
18: 36,774,654 (GRCm39) |
C1412S |
probably benign |
Het |
| Ccdc93 |
C |
T |
1: 121,369,584 (GRCm39) |
Q109* |
probably null |
Het |
| Chrm5 |
T |
C |
2: 112,309,824 (GRCm39) |
R431G |
possibly damaging |
Het |
| Clxn |
T |
A |
16: 14,735,541 (GRCm39) |
C84* |
probably null |
Het |
| Dnah14 |
A |
C |
1: 181,508,348 (GRCm39) |
E1842A |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,582,975 (GRCm39) |
L386P |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,538,507 (GRCm39) |
Q393* |
probably null |
Het |
| Hinfp |
A |
T |
9: 44,209,276 (GRCm39) |
Y308N |
probably damaging |
Het |
| Hnrnph3 |
T |
A |
10: 62,854,627 (GRCm39) |
R55* |
probably null |
Het |
| Ifi44 |
T |
C |
3: 151,454,886 (GRCm39) |
D113G |
probably benign |
Het |
| Katnal1 |
A |
T |
5: 148,815,761 (GRCm39) |
L392H |
probably damaging |
Het |
| Kcnk12 |
C |
A |
17: 88,104,880 (GRCm39) |
M1I |
probably null |
Het |
| Krt17 |
T |
A |
11: 100,148,325 (GRCm39) |
D372V |
probably damaging |
Het |
| Mrtfb |
T |
A |
16: 13,223,151 (GRCm39) |
Y796* |
probably null |
Het |
| Myo3a |
T |
A |
2: 22,412,235 (GRCm39) |
Y751* |
probably null |
Het |
| Ndrg3 |
C |
A |
2: 156,782,276 (GRCm39) |
|
probably null |
Het |
| Nfkbib |
C |
A |
7: 28,465,800 (GRCm39) |
W16C |
probably damaging |
Het |
| Nlrp14 |
T |
C |
7: 106,781,106 (GRCm39) |
V101A |
probably benign |
Het |
| Npy5r |
A |
G |
8: 67,133,483 (GRCm39) |
S437P |
probably damaging |
Het |
| Or6c75 |
T |
C |
10: 129,336,969 (GRCm39) |
F64S |
probably damaging |
Het |
| Pi4ka |
T |
A |
16: 17,125,670 (GRCm39) |
H1155L |
|
Het |
| Rbp3 |
A |
G |
14: 33,677,234 (GRCm39) |
D394G |
possibly damaging |
Het |
| Rnmt |
T |
A |
18: 68,442,410 (GRCm39) |
V180E |
probably damaging |
Het |
| Rpl3l |
A |
T |
17: 24,947,300 (GRCm39) |
K5* |
probably null |
Het |
| Rps6ka1 |
A |
T |
4: 133,575,963 (GRCm39) |
V652E |
probably damaging |
Het |
| Slc7a1 |
A |
T |
5: 148,270,730 (GRCm39) |
W579R |
probably damaging |
Het |
| Smr2l |
A |
G |
5: 88,430,257 (GRCm39) |
D51G |
possibly damaging |
Het |
| Smyd4 |
T |
A |
11: 75,293,017 (GRCm39) |
L649Q |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,374,602 (GRCm39) |
R954G |
possibly damaging |
Het |
| Sp4 |
T |
C |
12: 118,202,000 (GRCm39) |
E744G |
possibly damaging |
Het |
| Spag16 |
C |
T |
1: 69,892,539 (GRCm39) |
L107F |
probably damaging |
Het |
| Stk36 |
A |
G |
1: 74,650,272 (GRCm39) |
D268G |
probably benign |
Het |
| Tat |
G |
T |
8: 110,718,492 (GRCm39) |
G85W |
probably damaging |
Het |
| Tchp |
G |
T |
5: 114,847,446 (GRCm39) |
E88D |
probably benign |
Het |
| Tmem132b |
A |
G |
5: 125,775,633 (GRCm39) |
N369S |
possibly damaging |
Het |
| Tmf1 |
T |
C |
6: 97,153,617 (GRCm39) |
D152G |
probably benign |
Het |
| Ttc7 |
T |
C |
17: 87,600,320 (GRCm39) |
Y145H |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,772,263 (GRCm39) |
I2592M |
unknown |
Het |
| Unc80 |
T |
G |
1: 66,732,964 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
T |
C |
6: 124,002,826 (GRCm39) |
Y79H |
probably damaging |
Het |
| Whamm |
G |
T |
7: 81,221,063 (GRCm39) |
|
probably benign |
Het |
| Zfp184 |
A |
G |
13: 22,133,898 (GRCm39) |
I48M |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,611,094 (GRCm39) |
F210L |
probably benign |
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 |
|
|
R7914:Pcdhga3
|
UTSW |
18 |
37,808,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- ACTAACAGTTCCTGGAACCCG -3'
(R):5'- ACACTTGAGCATTGAATCCCTCATC -3'
Sequencing Primer
(F):5'- CGATTCCCACTTAAAACTGCATTTG -3'
(R):5'- TGAATCCCTCATCAGGATCAGTGG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation