Incidental Mutation 'R3915:Car8'
| ID |
309585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Car8
|
| Ensembl Gene |
ENSMUSG00000041261 |
| Gene Name |
carbonic anhydrase 8 |
| Synonyms |
wdl, Carp, CA-RP VIII, Cals1 |
| MMRRC Submission |
040913-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R3915 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
8143362-8239041 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 8184576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066674]
|
| AlphaFold |
P28651 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066674
|
| SMART Domains |
Protein: ENSMUSP00000063511
Gene: ENSMUSG00000041261
| Domain | Start | End | E-Value | Type |
|---|
|
Carb_anhydrase
|
30 |
290 |
1.32e-110 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
98% (43/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a spontaneous deletion exhibit a wobbly side-to-side gait which is first noted at two weeks of age and persists throughout life. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
G |
A |
5: 3,627,248 (GRCm39) |
V75I |
possibly damaging |
Het |
| AA986860 |
A |
G |
1: 130,670,344 (GRCm39) |
K189E |
probably benign |
Het |
| Abcf1 |
C |
T |
17: 36,270,402 (GRCm39) |
R596H |
possibly damaging |
Het |
| Abtb3 |
C |
A |
10: 85,468,134 (GRCm39) |
H810N |
probably damaging |
Het |
| Axl |
T |
C |
7: 25,460,169 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,886,603 (GRCm39) |
K644E |
probably benign |
Het |
| Btnl7-ps |
T |
A |
17: 34,760,489 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc62 |
C |
T |
5: 124,092,778 (GRCm39) |
R588C |
probably damaging |
Het |
| Clasp2 |
T |
G |
9: 113,737,805 (GRCm39) |
S374A |
probably damaging |
Het |
| Ctnnb1 |
A |
G |
9: 120,784,717 (GRCm39) |
H503R |
probably benign |
Het |
| Cwf19l2 |
A |
G |
9: 3,456,776 (GRCm39) |
H703R |
probably damaging |
Het |
| Efcab7 |
A |
T |
4: 99,735,375 (GRCm39) |
Q133L |
probably damaging |
Het |
| Ehmt2 |
T |
C |
17: 35,122,443 (GRCm39) |
S280P |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,420 (GRCm39) |
T294S |
probably benign |
Het |
| Eomes |
A |
G |
9: 118,310,341 (GRCm39) |
M351V |
probably benign |
Het |
| Ets2 |
G |
A |
16: 95,520,037 (GRCm39) |
R421H |
probably damaging |
Het |
| Fam222b |
C |
G |
11: 78,045,756 (GRCm39) |
P439R |
probably benign |
Het |
| Gbp11 |
T |
A |
5: 105,478,978 (GRCm39) |
K153N |
probably damaging |
Het |
| Golim4 |
T |
C |
3: 75,810,634 (GRCm39) |
T174A |
probably damaging |
Het |
| Grid1 |
A |
G |
14: 35,242,684 (GRCm39) |
Y679C |
probably damaging |
Het |
| Gvin-ps5 |
A |
G |
7: 105,929,445 (GRCm39) |
S151P |
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,381,412 (GRCm39) |
D56G |
probably damaging |
Het |
| Kcnj16 |
A |
G |
11: 110,916,382 (GRCm39) |
D348G |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,103,957 (GRCm39) |
L1319P |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 41,339,248 (GRCm39) |
D751V |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,551 (GRCm39) |
C440R |
probably benign |
Het |
| Mbd2 |
T |
C |
18: 70,755,680 (GRCm39) |
V382A |
probably benign |
Het |
| Or13a17 |
T |
A |
7: 140,270,888 (GRCm39) |
D23E |
probably benign |
Het |
| Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
| Or6c68 |
G |
A |
10: 129,158,178 (GRCm39) |
A229T |
probably benign |
Het |
| Pgs1 |
T |
G |
11: 117,910,472 (GRCm39) |
S528A |
probably benign |
Het |
| Pitpnm3 |
T |
C |
11: 72,003,110 (GRCm39) |
T67A |
probably damaging |
Het |
| Pnliprp2 |
T |
G |
19: 58,748,794 (GRCm39) |
V33G |
probably damaging |
Het |
| Ptn |
T |
C |
6: 36,720,282 (GRCm39) |
N90S |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,397,475 (GRCm39) |
|
probably benign |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Rasgrp1 |
G |
A |
2: 117,119,122 (GRCm39) |
S505F |
probably damaging |
Het |
| Sesn1 |
G |
A |
10: 41,770,886 (GRCm39) |
R139H |
probably benign |
Het |
| Slc17a7 |
T |
A |
7: 44,818,144 (GRCm39) |
L23Q |
probably damaging |
Het |
| Slc30a10 |
G |
T |
1: 185,187,333 (GRCm39) |
E25* |
probably null |
Het |
| Smco1 |
A |
G |
16: 32,092,583 (GRCm39) |
I85V |
probably benign |
Het |
| Vmn1r76 |
A |
T |
7: 11,664,496 (GRCm39) |
S239R |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,974,074 (GRCm39) |
V237D |
possibly damaging |
Het |
|
| Other mutations in Car8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00863:Car8
|
APN |
4 |
8,183,251 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01506:Car8
|
APN |
4 |
8,169,761 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01679:Car8
|
APN |
4 |
8,169,674 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02364:Car8
|
APN |
4 |
8,183,321 (GRCm39) |
missense |
probably benign |
|
|
IGL02698:Car8
|
APN |
4 |
8,185,598 (GRCm39) |
missense |
probably benign |
0.01 |
|
Burp
|
UTSW |
4 |
8,185,650 (GRCm39) |
splice site |
probably null |
|
|
fizzwater
|
UTSW |
4 |
8,169,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0723:Car8
|
UTSW |
4 |
8,169,703 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0893:Car8
|
UTSW |
4 |
8,238,119 (GRCm39) |
splice site |
probably null |
|
|
R1451:Car8
|
UTSW |
4 |
8,189,327 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1676:Car8
|
UTSW |
4 |
8,185,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Car8
|
UTSW |
4 |
8,221,671 (GRCm39) |
nonsense |
probably null |
|
|
R3849:Car8
|
UTSW |
4 |
8,189,353 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4078:Car8
|
UTSW |
4 |
8,169,731 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4717:Car8
|
UTSW |
4 |
8,169,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6484:Car8
|
UTSW |
4 |
8,189,362 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6981:Car8
|
UTSW |
4 |
8,185,650 (GRCm39) |
splice site |
probably null |
|
|
R7745:Car8
|
UTSW |
4 |
8,237,939 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7832:Car8
|
UTSW |
4 |
8,238,860 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8459:Car8
|
UTSW |
4 |
8,189,302 (GRCm39) |
missense |
probably benign |
|
|
R8755:Car8
|
UTSW |
4 |
8,238,083 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9140:Car8
|
UTSW |
4 |
8,183,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9272:Car8
|
UTSW |
4 |
8,169,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Car8
|
UTSW |
4 |
8,221,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCAGAGGCAAGGATTTCCTAAC -3'
(R):5'- TCCAATGAGAAGAGCGGTCAAC -3'
Sequencing Primer
(F):5'- TAACATTCAAAAGCTTTCCTGCC -3'
(R):5'- GTCAACTCACTAATACTGGGAGCTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation