Mutagenetix > Incidental Mutation

Incidental Mutation 'R3849:Car8'

275802

Institutional Source

Beutler Lab

Gene Symbol

Car8

Ensembl Gene

ENSMUSG00000041261

Gene Name

carbonic anhydrase 8

Synonyms

wdl, Carp, CA-RP VIII, Cals1

MMRRC Submission

040897-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R3849 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8143362-8239041 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8189353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 154 (I154F)

Ref Sequence

ENSEMBL: ENSMUSP00000063511 (fasta)

Gene Model

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

AlphaFold

P28651

Predicted Effect

probably benign
Transcript: ENSMUST00000066674
AA Change: I154F

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000063511
Gene: ENSMUSG00000041261
AA Change: I154F

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

Meta Mutation Damage Score

0.0868

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (52/52)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	A	T	7: 136,978,069 (GRCm39)	N102K	possibly damaging	Het
Abca1	C	T	4: 53,061,481 (GRCm39)		probably benign	Het
Adamts17	T	A	7: 66,490,215 (GRCm39)	L99Q	possibly damaging	Het
Adamtsl1	A	T	4: 86,336,783 (GRCm39)	Q1564L	probably damaging	Het
Aspm	T	A	1: 139,386,024 (GRCm39)	V556E	probably benign	Het
Axin1	T	A	17: 26,406,771 (GRCm39)	Y455N	probably benign	Het
Cacna2d3	A	G	14: 29,069,077 (GRCm39)		probably null	Het
Ccl27a	T	A	4: 41,773,232 (GRCm39)	T76S	probably benign	Het
Cep170	G	A	1: 176,583,409 (GRCm39)	A990V	probably benign	Het
Chd1	A	T	17: 15,952,133 (GRCm39)	T291S	probably damaging	Het
Col3a1	C	A	1: 45,361,150 (GRCm39)	P112T	unknown	Het
Cpa4	T	C	6: 30,590,872 (GRCm39)	F390S	probably damaging	Het
Cul5	T	G	9: 53,529,286 (GRCm39)	M800L	probably benign	Het
Dst	C	T	1: 34,251,400 (GRCm39)	S4165F	probably damaging	Het
Dusp8	T	C	7: 141,643,802 (GRCm39)	E37G	probably damaging	Het
Efr3b	T	C	12: 4,033,414 (GRCm39)	N131S	probably benign	Het
Fan1	T	C	7: 64,022,119 (GRCm39)	Y378C	probably damaging	Het
Fcgr2b	T	C	1: 170,795,704 (GRCm39)	N75S	possibly damaging	Het
Foxp4	A	G	17: 48,186,453 (GRCm39)	I442T	unknown	Het
Gp9	A	G	6: 87,756,133 (GRCm39)	I49M	probably benign	Het
Grip1	G	A	10: 119,765,863 (GRCm39)	G65D	probably damaging	Het
Hoxc10	T	C	15: 102,875,879 (GRCm39)	V196A	probably benign	Het
Hpx	A	G	7: 105,245,498 (GRCm39)	C92R	probably damaging	Het
Ighv1-22	A	G	12: 114,710,301 (GRCm39)	F9S	possibly damaging	Het
Kif24	C	T	4: 41,404,734 (GRCm39)	R422H	probably damaging	Het
Klk1b1	T	C	7: 43,618,751 (GRCm39)	Y43H	probably damaging	Het
Lmo7	A	G	14: 102,159,531 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,050,703 (GRCm39)	D387G	probably damaging	Het
Lysmd1	G	A	3: 95,045,772 (GRCm39)	G203D	probably damaging	Het
Mpnd	T	C	17: 56,318,692 (GRCm39)	S150P	probably damaging	Het
Mrc2	T	C	11: 105,183,729 (GRCm39)		probably null	Het
Mtr	A	G	13: 12,262,251 (GRCm39)	S152P	probably benign	Het
Naip2	A	T	13: 100,315,940 (GRCm39)	L280Q	probably damaging	Het
Naip2	G	C	13: 100,315,941 (GRCm39)	L280V	probably damaging	Het
Ndufa13	T	C	8: 70,354,260 (GRCm39)	D9G	probably damaging	Het
Nek1	T	A	8: 61,525,349 (GRCm39)	F596I	probably damaging	Het
Nsd1	A	G	13: 55,394,504 (GRCm39)	T702A	probably benign	Het
Or7d10	A	T	9: 19,832,105 (GRCm39)	Y200F	probably damaging	Het
Pam	T	A	1: 97,782,481 (GRCm39)		probably benign	Het
Plxna1	C	A	6: 89,333,501 (GRCm39)	R376L	probably damaging	Het
Plxnc1	A	G	10: 94,630,294 (GRCm39)	V1535A	probably benign	Het
Prdx5	A	G	19: 6,884,218 (GRCm39)	L166P	probably damaging	Het
Prol1	A	T	5: 88,476,476 (GRCm39)	I289F	unknown	Het
Prss23	T	C	7: 89,158,959 (GRCm39)	Y370C	probably damaging	Het
Rimbp3	A	T	16: 17,028,163 (GRCm39)	H529L	probably benign	Het
Rnase2b	T	A	14: 51,400,205 (GRCm39)	H95Q	probably damaging	Het
Rnf103	C	G	6: 71,485,859 (GRCm39)	C163W	probably damaging	Het
Rnf17	T	C	14: 56,749,753 (GRCm39)	V1433A	probably damaging	Het
Rusf1	C	T	7: 127,884,380 (GRCm39)	V201I	probably damaging	Het
Syne2	C	T	12: 76,092,839 (GRCm39)	Q5150*	probably null	Het
Tas2r110	T	A	6: 132,845,638 (GRCm39)	I223N	probably damaging	Het
Tead2	T	A	7: 44,881,752 (GRCm39)		probably null	Het
Vwa3a	A	T	7: 120,361,687 (GRCm39)	K133*	probably null	Het
Vwce	T	C	19: 10,624,269 (GRCm39)	S387P	probably damaging	Het
Zbtb41	T	A	1: 139,351,734 (GRCm39)	H282Q	probably benign	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
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'- TCAACTCTTGAGAACTGACTGTC -3'
(R):5'- AAGCGCTCTTTGAGACAGCTTC -3'

Sequencing Primer
(F):5'- GAGAACTGACTGTCAAATTATGAGC -3'
(R):5'- AGACAGCTTCTCCTGGGG -3'

Posted On

2015-04-06