Mutagenetix > Incidental Mutation

Incidental Mutation 'R0723:Car8'

63592

Institutional Source

Beutler Lab

Gene Symbol

Car8

Ensembl Gene

ENSMUSG00000041261

Gene Name

carbonic anhydrase 8

Synonyms

wdl, Carp, CA-RP VIII, Cals1

MMRRC Submission

038905-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R0723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8143362-8239041 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8169703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 268 (D268E)

Ref Sequence

ENSEMBL: ENSMUSP00000063511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066674]

AlphaFold

P28651

Predicted Effect

probably benign
Transcript: ENSMUST00000066674
AA Change: D268E

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000063511
Gene: ENSMUSG00000041261
AA Change: D268E

Domain	Start	End	E-Value	Type
Carb_anhydrase	30	290	1.32e-110	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116110

Meta Mutation Damage Score

0.0784

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.0%

Validation Efficiency

99% (69/70)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Acbd5	T	G	2: 22,959,608 (GRCm39)	V54G	probably damaging	Het
Acin1	A	T	14: 54,902,908 (GRCm39)	S255T	probably damaging	Het
Adcy2	A	G	13: 69,147,248 (GRCm39)	L56P	probably damaging	Het
Akap6	G	T	12: 53,188,685 (GRCm39)	C2033F	probably damaging	Het
Ano5	A	G	7: 51,237,506 (GRCm39)	I777V	probably benign	Het
Arhgef28	A	G	13: 98,075,987 (GRCm39)	V1349A	probably benign	Het
Atosa	G	A	9: 74,916,733 (GRCm39)	G444E	probably damaging	Het
Bank1	T	C	3: 135,760,164 (GRCm39)		probably null	Het
C2cd5	T	C	6: 142,987,281 (GRCm39)		probably benign	Het
Cadps2	A	G	6: 23,287,697 (GRCm39)	V1161A	probably damaging	Het
Ciao3	G	A	17: 26,000,795 (GRCm39)	V406M	probably damaging	Het
Ckap5	T	A	2: 91,385,676 (GRCm39)	S175T	probably damaging	Het
Clk4	T	A	11: 51,166,320 (GRCm39)	Y67*	probably null	Het
Copg2	T	C	6: 30,792,917 (GRCm39)	I473V	possibly damaging	Het
Cstdc1	T	C	2: 148,625,282 (GRCm39)	I72T	probably damaging	Het
Cyp2s1	C	T	7: 25,508,973 (GRCm39)	V43I	probably benign	Het
Ddx54	A	G	5: 120,761,703 (GRCm39)	D493G	probably benign	Het
Efemp2	T	C	19: 5,530,078 (GRCm39)	S140P	probably damaging	Het
Fat1	C	A	8: 45,479,786 (GRCm39)	T2944K	probably damaging	Het
Fgfr1	T	A	8: 26,047,784 (GRCm39)	D43E	probably damaging	Het
Fry	G	A	5: 150,419,825 (GRCm39)	A996T	probably damaging	Het
Fyb2	G	A	4: 104,873,063 (GRCm39)	V784I	probably benign	Het
Gm6507	T	A	6: 89,162,144 (GRCm39)		noncoding transcript	Het
Gm7964	T	C	7: 83,405,374 (GRCm39)		noncoding transcript	Het
Gucy2c	T	C	6: 136,704,799 (GRCm39)		probably null	Het
Hdac10	A	T	15: 89,010,621 (GRCm39)	L259Q	probably damaging	Het
Hoxd9	A	T	2: 74,529,172 (GRCm39)	D258V	probably damaging	Het
Hs3st3b1	T	C	11: 63,812,401 (GRCm39)	T105A	probably benign	Het
Hsd17b7	A	G	1: 169,783,595 (GRCm39)	L271P	probably damaging	Het
Ifnlr1	T	A	4: 135,428,524 (GRCm39)		probably benign	Het
Kif22	A	T	7: 126,633,078 (GRCm39)	M121K	probably damaging	Het
Kl	G	A	5: 150,876,566 (GRCm39)	D129N	probably damaging	Het
Mettl13	A	T	1: 162,361,999 (GRCm39)	I648N	probably damaging	Het
Mlh1	C	T	9: 111,100,540 (GRCm39)	R18H	probably damaging	Het
Mtmr14	T	C	6: 113,247,473 (GRCm39)		probably benign	Het
Myo15a	C	A	11: 60,369,803 (GRCm39)	N854K	possibly damaging	Het
Myo1h	T	C	5: 114,457,741 (GRCm39)	I84T	probably benign	Het
Myo9a	A	T	9: 59,778,383 (GRCm39)	S1380C	probably benign	Het
Myof	A	G	19: 37,969,708 (GRCm39)	V318A	probably damaging	Het
N4bp2l2	A	G	5: 150,585,897 (GRCm39)	S28P	probably damaging	Het
Nbr1	C	T	11: 101,467,145 (GRCm39)	Q570*	probably null	Het
Nhp2	C	T	11: 51,510,750 (GRCm39)	Q36*	probably null	Het
Or1e17	T	G	11: 73,831,096 (GRCm39)	V8G	probably benign	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Poc1b	T	A	10: 98,965,457 (GRCm39)	W129R	probably damaging	Het
Potegl	T	C	2: 23,146,936 (GRCm39)		probably benign	Het
Rapgef2	C	T	3: 78,986,481 (GRCm39)	E1018K	probably benign	Het
Rgs12	T	C	5: 35,181,710 (GRCm39)		probably benign	Het
Rufy2	G	A	10: 62,833,873 (GRCm39)	V280I	probably benign	Het
Snx2	A	G	18: 53,343,444 (GRCm39)	I281V	probably benign	Het
Spag5	C	A	11: 78,210,410 (GRCm39)		probably benign	Het
Spata31g1	T	A	4: 42,971,691 (GRCm39)	N341K	probably damaging	Het
Stxbp5	A	T	10: 9,644,617 (GRCm39)	I961N	probably damaging	Het
Tet2	T	C	3: 133,173,045 (GRCm39)	E1739G	probably benign	Het
Tmod2	A	G	9: 75,502,337 (GRCm39)	F50S	possibly damaging	Het
Tnfsf13b	T	G	8: 10,057,166 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,616,679 (GRCm39)	K16525E	possibly damaging	Het
Txnrd2	T	C	16: 18,259,629 (GRCm39)		probably benign	Het
Ubr1	A	T	2: 120,711,582 (GRCm39)	Y1437*	probably null	Het
Vwf	C	A	6: 125,543,225 (GRCm39)	D170E	probably benign	Het
Wdr95	C	G	5: 149,497,513 (GRCm39)	I230M	probably damaging	Het
Xirp2	C	T	2: 67,342,559 (GRCm39)	S1600F	probably damaging	Het
Zfp12	A	G	5: 143,230,638 (GRCm39)	K322E	probably 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
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
R3915:Car8	UTSW	4	8,184,576 (GRCm39)	splice site	probably benign
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'- ACAGTGACATGCATTTCAGCAGTCAG -3'
(R):5'- GGGAAGGCTCAGAGCATTTACTCG -3'

Sequencing Primer
(F):5'- GCTAAGGTGTCTCACTTCCTTGT -3'
(R):5'- tgggcactggactcagg -3'

Posted On

2013-07-30