Mutagenetix > Incidental Mutation

Incidental Mutation 'R4078:Car8'

316669

Institutional Source

Beutler Lab

Gene Symbol

Car8

Ensembl Gene

ENSMUSG00000041261

Gene Name

carbonic anhydrase 8

Synonyms

wdl, Carp, CA-RP VIII, Cals1

MMRRC Submission

041623-MU

Accession Numbers

Essential gene?

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

Stock #

R4078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8143362-8239041 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8169731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 259 (K259R)

Ref Sequence

ENSEMBL: ENSMUSP00000063511 (fasta)

Gene Model

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

AlphaFold

P28651

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066674
AA Change: K259R

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000063511
Gene: ENSMUSG00000041261
AA Change: K259R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116110

Meta Mutation Damage Score

0.1398

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (70/73)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,215,359 (GRCm39)	L367*	probably null	Het
Agfg1	T	A	1: 82,860,008 (GRCm39)	S312T	possibly damaging	Het
Akap8	C	T	17: 32,531,272 (GRCm39)	R380Q	probably damaging	Het
Ambp	T	A	4: 63,068,680 (GRCm39)	K112N	probably damaging	Het
Arl5c	A	T	11: 97,884,327 (GRCm39)	I88N	probably damaging	Het
Asah1	A	G	8: 41,807,119 (GRCm39)	S102P	probably damaging	Het
Atp10b	T	C	11: 43,044,110 (GRCm39)	V112A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cabs1	G	A	5: 88,128,161 (GRCm39)	E271K	probably damaging	Het
Ccdc18	C	T	5: 108,306,394 (GRCm39)	Q270*	probably null	Het
Cdh4	A	G	2: 179,530,966 (GRCm39)	E616G	possibly damaging	Het
Cdk11b	C	T	4: 155,724,204 (GRCm39)		probably benign	Het
Cfap74	A	G	4: 155,540,128 (GRCm39)	D975G	probably damaging	Het
Col27a1	G	T	4: 63,142,669 (GRCm39)	R119L	probably damaging	Het
Col7a1	A	G	9: 108,790,059 (GRCm39)	N918S	unknown	Het
Colec11	T	C	12: 28,645,246 (GRCm39)	N142D	possibly damaging	Het
Cox7a2	G	A	9: 79,665,852 (GRCm39)	Q10*	probably null	Het
Cyp2b23	C	A	7: 26,372,517 (GRCm39)	G366V	probably damaging	Het
Eif1ad3	A	G	12: 87,843,401 (GRCm39)	K16R	unknown	Het
Emsy	G	A	7: 98,239,932 (GRCm39)	P1108S	probably damaging	Het
Etl4	A	T	2: 20,812,772 (GRCm39)	R1442S	probably damaging	Het
Fam151a	G	A	4: 106,604,954 (GRCm39)	G439S	probably benign	Het
Fat1	C	T	8: 45,442,159 (GRCm39)	P1154S	probably damaging	Het
Fat4	G	A	3: 39,034,169 (GRCm39)	S2607N	probably damaging	Het
Fzd7	T	A	1: 59,522,948 (GRCm39)	M277K	possibly damaging	Het
Fzd9	A	G	5: 135,278,490 (GRCm39)	V465A	probably benign	Het
Gm38706	G	T	6: 130,460,700 (GRCm39)		noncoding transcript	Het
Gm9758	T	A	5: 14,961,536 (GRCm39)		probably null	Het
Gpr3	T	C	4: 132,938,226 (GRCm39)	T149A	probably damaging	Het
Heatr9	C	A	11: 83,403,254 (GRCm39)	K428N	probably benign	Het
Hgs	T	A	11: 120,373,874 (GRCm39)	S723T	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Kcnn3	A	G	3: 89,568,495 (GRCm39)	K591R	possibly damaging	Het
Khdrbs2	T	C	1: 32,558,895 (GRCm39)		probably benign	Het
Lpp	G	A	16: 24,500,611 (GRCm39)	R141H	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Macf1	T	A	4: 123,365,884 (GRCm39)	Q2959L	probably benign	Het
Mipep	T	A	14: 61,083,926 (GRCm39)	Y606N	probably damaging	Het
Mroh5	C	A	15: 73,657,889 (GRCm39)	C547F	possibly damaging	Het
Nek3	A	T	8: 22,622,153 (GRCm39)	W363R	probably damaging	Het
Nphs1	T	A	7: 30,166,945 (GRCm39)	Y717*	probably null	Het
Obscn	A	G	11: 58,929,189 (GRCm39)	V6145A	probably benign	Het
Optc	T	C	1: 133,826,087 (GRCm39)	H270R	probably damaging	Het
Or1l4	T	A	2: 37,092,024 (GRCm39)	I257N	possibly damaging	Het
Or2l5	T	A	16: 19,333,982 (GRCm39)	M135L	possibly damaging	Het
Or5p80	T	A	7: 108,230,114 (GRCm39)	M305K	probably benign	Het
Or9r7	G	A	10: 129,962,587 (GRCm39)	T113I	probably damaging	Het
Pik3c2g	A	G	6: 139,612,608 (GRCm39)		probably benign	Het
Pms1	A	T	1: 53,306,948 (GRCm39)		probably null	Het
Pramel51	T	A	12: 88,142,683 (GRCm39)	I312F	probably benign	Het
Prkg1	T	C	19: 31,562,978 (GRCm39)	Y156C	probably damaging	Het
Prol1	A	G	5: 88,476,075 (GRCm39)	N155S	unknown	Het
Rapgefl1	A	G	11: 98,740,803 (GRCm39)	T552A	probably benign	Het
Slc22a28	T	A	19: 8,078,777 (GRCm39)	H304L	probably benign	Het
Stox1	C	T	10: 62,501,810 (GRCm39)	C250Y	probably benign	Het
Sult2a3	A	G	7: 13,855,662 (GRCm39)	W65R	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Syne2	C	A	12: 76,082,398 (GRCm39)	T4857K	probably damaging	Het
Tcp1	T	C	17: 13,136,970 (GRCm39)	L64S	probably benign	Het
Thap11	G	T	8: 106,582,548 (GRCm39)	E186*	probably null	Het
Tmem67	A	G	4: 12,040,633 (GRCm39)		probably null	Het
Trappc10	T	C	10: 78,046,216 (GRCm39)	Y458C	probably damaging	Het
Ufd1	A	G	16: 18,644,528 (GRCm39)	Y197C	possibly damaging	Het
Ung	G	T	5: 114,268,684 (GRCm39)		probably null	Het
Usp49	A	G	17: 47,985,674 (GRCm39)	T245A	probably damaging	Het
Washc1	A	T	17: 66,424,156 (GRCm39)	E289D	probably benign	Het
Zc3h7a	A	T	16: 10,969,011 (GRCm39)	V450E	probably benign	Het
Zcchc17	T	G	4: 130,223,418 (GRCm39)	I123L	possibly damaging	Het
Zfp955a	A	G	17: 33,460,675 (GRCm39)	Y486H	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
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
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'- GGCTAAGGTGTCTCACTTCCTTG -3'
(R):5'- CAACCAAATCTGTCTTACTGGC -3'

Sequencing Primer
(F):5'- TGTCTCACTTCCTTGTCTAATTTTAC -3'
(R):5'- CAAGGGCAGCATGCTTTCTTAAC -3'

Posted On

2015-05-15