Incidental Mutation 'R6893:Pcdhga3'
| ID |
538182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga3
|
| Ensembl Gene |
ENSMUSG00000104346 |
| Gene Name |
protocadherin gamma subfamily A, 3 |
| Synonyms |
|
| MMRRC Submission |
044987-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R6893 (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 C
at 37809598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 684
(S684P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194544]
|
| AlphaFold |
Q91XY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073447
AA Change: S684P
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
AA Change: S684P
| 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: 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: 99.9%
- 3x: 99.8%
- 10x: 98.7%
- 20x: 95.2%
|
| Validation Efficiency |
100% (49/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
T |
A |
8: 25,368,770 (GRCm39) |
D538V |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,011,709 (GRCm39) |
I804T |
probably benign |
Het |
| Amy1 |
T |
C |
3: 113,357,281 (GRCm39) |
E186G |
probably benign |
Het |
| Best1 |
A |
G |
19: 9,974,446 (GRCm39) |
Y33H |
probably damaging |
Het |
| Cacna1s |
C |
A |
1: 136,005,431 (GRCm39) |
N405K |
probably benign |
Het |
| Casp7 |
T |
C |
19: 56,421,741 (GRCm39) |
Y60H |
probably damaging |
Het |
| Ccdc61 |
T |
C |
7: 18,626,488 (GRCm39) |
N367S |
possibly damaging |
Het |
| Cnksr3 |
A |
T |
10: 7,085,129 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
A |
C |
15: 55,308,044 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,323,784 (GRCm39) |
K424* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,786,184 (GRCm39) |
E366G |
probably damaging |
Het |
| Dpep3 |
T |
C |
8: 106,700,474 (GRCm39) |
K411E |
probably benign |
Het |
| Ebf2 |
T |
A |
14: 67,475,008 (GRCm39) |
V81E |
probably benign |
Het |
| Ehbp1 |
G |
T |
11: 21,964,945 (GRCm39) |
T1084K |
probably damaging |
Het |
| Fastkd2 |
C |
T |
1: 63,770,953 (GRCm39) |
A103V |
possibly damaging |
Het |
| Gtf3c2 |
T |
C |
5: 31,323,722 (GRCm39) |
K525E |
probably benign |
Het |
| Hdac2 |
A |
G |
10: 36,873,003 (GRCm39) |
E287G |
probably damaging |
Het |
| Ifi207 |
T |
A |
1: 173,555,208 (GRCm39) |
T832S |
possibly damaging |
Het |
| Igf1 |
G |
C |
10: 87,700,722 (GRCm39) |
V49L |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 130,909,149 (GRCm39) |
D55G |
possibly damaging |
Het |
| Lipo2 |
G |
T |
19: 33,698,407 (GRCm39) |
Y323* |
probably null |
Het |
| Mettl24 |
C |
T |
10: 40,613,794 (GRCm39) |
R178C |
probably damaging |
Het |
| Naa80 |
A |
G |
9: 107,460,225 (GRCm39) |
E40G |
probably damaging |
Het |
| Ndrg4 |
C |
A |
8: 96,433,229 (GRCm39) |
C66* |
probably null |
Het |
| Nemf |
A |
G |
12: 69,399,110 (GRCm39) |
V140A |
probably benign |
Het |
| Nid2 |
T |
A |
14: 19,839,855 (GRCm39) |
F815I |
probably benign |
Het |
| Or4c108 |
A |
G |
2: 88,804,143 (GRCm39) |
F31L |
probably benign |
Het |
| Or5b106 |
A |
C |
19: 13,123,106 (GRCm39) |
S306A |
probably benign |
Het |
| Or8b12c |
A |
C |
9: 37,716,141 (GRCm39) |
*311C |
probably null |
Het |
| Or8b3b |
A |
T |
9: 38,584,355 (GRCm39) |
N141K |
possibly damaging |
Het |
| Or8k30 |
A |
G |
2: 86,339,136 (GRCm39) |
E111G |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,660,562 (GRCm39) |
C352* |
probably null |
Het |
| Plscr2 |
G |
A |
9: 92,172,757 (GRCm39) |
V139I |
probably benign |
Het |
| Ppa1 |
T |
A |
10: 61,508,182 (GRCm39) |
C270S |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,844,540 (GRCm39) |
M399L |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,356,098 (GRCm39) |
V212A |
possibly damaging |
Het |
| Serpina3b |
A |
G |
12: 104,099,285 (GRCm39) |
K267E |
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,090,063 (GRCm39) |
T938A |
probably damaging |
Het |
| Specc1 |
A |
C |
11: 62,023,279 (GRCm39) |
S115R |
probably benign |
Het |
| Stim2 |
C |
T |
5: 54,210,787 (GRCm39) |
T74I |
probably benign |
Het |
| Sult6b2 |
T |
A |
6: 142,750,025 (GRCm39) |
D31V |
possibly damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,401,492 (GRCm39) |
W406R |
probably damaging |
Het |
| Tmprss11b |
A |
G |
5: 86,811,245 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
A |
G |
15: 72,797,499 (GRCm39) |
Y575H |
possibly damaging |
Het |
| Trim63 |
C |
T |
4: 134,050,412 (GRCm39) |
T232M |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,598,180 (GRCm39) |
S19578T |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Xpo4 |
T |
A |
14: 57,819,767 (GRCm39) |
E1139D |
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 |
|
|
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 |
|
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'- TTCTCAGTAGGGCTGCACAC -3'
(R):5'- AGGTCTGCAGGAAAGCTTG -3'
Sequencing Primer
(F):5'- AGGAGAGGTACGCACTGCTC -3'
(R):5'- GGAAAGCTTGCACCCCATCTAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation