Mutagenetix > Incidental Mutation

Incidental Mutation 'R0257:Car2'

34771

Institutional Source

Beutler Lab

Gene Symbol

Car2

Ensembl Gene

ENSMUSG00000027562

Gene Name

carbonic anhydrase 2

Synonyms

CAII, Car-2, CA II, Ltw-5, Lvtw-5

MMRRC Submission

038488-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.467) question?

Stock #

R0257 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

14951333-14965830 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 14965037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Aspartic acid at position 224 (H224D)

Ref Sequence

ENSEMBL: ENSMUSP00000029078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029078] [ENSMUST00000192609]

AlphaFold

P00920

Predicted Effect

probably benign
Transcript: ENSMUST00000029078
AA Change: H224D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029078
Gene: ENSMUSG00000027562
AA Change: H224D

Domain	Start	End	E-Value	Type
Carb_anhydrase	5	259	1.2e-136	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192609

SMART Domains

Protein: ENSMUSP00000141876
Gene: ENSMUSG00000027562

Domain	Start	End	E-Value	Type
Carb_anhydrase	5	115	8.2e-13	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygous mutant mice are growth retarded, display renal tubular acidosis, but mutants have not been recovered that display osteopetrosis as found in human CA-II deficiency. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	A	11: 84,401,107 (GRCm39)	E171D	probably benign	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adgre5	T	A	8: 84,458,624 (GRCm39)	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,717,790 (GRCm39)	M256L	probably benign	Het
Alk	A	T	17: 72,910,490 (GRCm39)	L72Q	probably damaging	Het
Ano2	C	A	6: 125,857,676 (GRCm39)	A505E	probably benign	Het
Bcas3	A	G	11: 85,712,865 (GRCm39)	K908E	probably benign	Het
C3ar1	A	G	6: 122,827,746 (GRCm39)	V157A	probably benign	Het
Cfh	T	C	1: 140,071,773 (GRCm39)	D287G	probably benign	Het
Disp3	G	T	4: 148,335,211 (GRCm39)	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,661,671 (GRCm39)		probably benign	Het
Dmbt1	A	G	7: 130,708,123 (GRCm39)	E1281G	probably damaging	Het
Dmxl1	T	A	18: 50,088,870 (GRCm39)		probably benign	Het
Dtx3	T	C	10: 127,028,761 (GRCm39)	D159G	probably benign	Het
Ets2	T	A	16: 95,513,245 (GRCm39)	C140*	probably null	Het
Fbf1	T	C	11: 116,045,917 (GRCm39)	I226V	probably benign	Het
Fgd6	T	A	10: 93,879,777 (GRCm39)	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898 (GRCm39)	T179A	probably benign	Het
Galnt10	T	C	11: 57,671,904 (GRCm39)	M398T	probably damaging	Het
Grk5	G	T	19: 61,065,068 (GRCm39)		probably benign	Het
Gse1	A	G	8: 121,299,073 (GRCm39)		probably benign	Het
Hmcn2	T	C	2: 31,259,176 (GRCm39)		probably benign	Het
Iqgap2	A	G	13: 95,861,052 (GRCm39)		probably null	Het
Lama4	T	C	10: 38,970,880 (GRCm39)		probably benign	Het
Luzp2	A	G	7: 54,899,194 (GRCm39)	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534 (GRCm39)	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,705,649 (GRCm39)		probably benign	Het
Msh5	G	C	17: 35,251,840 (GRCm39)	R407G	probably damaging	Het
Myo1c	A	T	11: 75,556,342 (GRCm39)		probably null	Het
Nek5	T	C	8: 22,613,688 (GRCm39)		probably benign	Het
Nrxn2	A	G	19: 6,540,728 (GRCm39)	I894V	possibly damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Pde4a	C	T	9: 21,103,717 (GRCm39)	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,150,930 (GRCm39)	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,660,080 (GRCm39)	S139N	probably benign	Het
Prob1	T	C	18: 35,786,092 (GRCm39)	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,495,382 (GRCm39)	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,589,842 (GRCm39)	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,441,664 (GRCm39)	M199L	probably benign	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,682,761 (GRCm39)		probably benign	Het
Sned1	A	T	1: 93,192,819 (GRCm39)	S369C	possibly damaging	Het
St18	T	A	1: 6,890,186 (GRCm39)	F539L	probably benign	Het
Stam2	C	T	2: 52,584,794 (GRCm39)	G500D	possibly damaging	Het
Stx16	G	A	2: 173,938,754 (GRCm39)	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610 (GRCm39)	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,765,904 (GRCm39)	S512N	probably benign	Het
Tiam2	T	C	17: 3,501,088 (GRCm39)	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343 (GRCm39)	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,778,556 (GRCm39)	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,741,045 (GRCm39)	S1264L	probably benign	Het
Ttn	T	A	2: 76,640,775 (GRCm39)	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,249,889 (GRCm39)	T794I	probably damaging	Het
Vmn2r52	T	A	7: 9,904,982 (GRCm39)	R286*	probably null	Het
Vps53	A	T	11: 76,068,211 (GRCm39)		probably benign	Het
Wdr18	A	G	10: 79,796,953 (GRCm39)		probably benign	Het
Wdr31	A	G	4: 62,378,755 (GRCm39)		probably null	Het
Zfp458	T	A	13: 67,407,706 (GRCm39)	K47*	probably null	Het
Zfp983	A	G	17: 21,880,356 (GRCm39)	T95A	probably benign	Het

Other mutations in Car2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01759:Car2	APN	3	14,960,688 (GRCm39)	critical splice donor site	probably null
IGL02618:Car2	APN	3	14,963,032 (GRCm39)	missense	probably benign	0.00
IGL03247:Car2	APN	3	14,952,999 (GRCm39)	missense	probably damaging	1.00
IGL03342:Car2	APN	3	14,960,629 (GRCm39)	missense	probably benign	0.21
R1260:Car2	UTSW	3	14,960,640 (GRCm39)	missense	probably damaging	1.00
R4409:Car2	UTSW	3	14,960,162 (GRCm39)	missense	probably damaging	1.00
R4527:Car2	UTSW	3	14,963,065 (GRCm39)	missense	probably damaging	1.00
R4681:Car2	UTSW	3	14,960,624 (GRCm39)	nonsense	probably null
R5677:Car2	UTSW	3	14,963,115 (GRCm39)	missense	possibly damaging	0.92
R6343:Car2	UTSW	3	14,953,025 (GRCm39)	missense	probably damaging	1.00
R6530:Car2	UTSW	3	14,961,791 (GRCm39)	missense	probably benign	0.05
R6786:Car2	UTSW	3	14,951,710 (GRCm39)	start gained	probably benign
R7010:Car2	UTSW	3	14,965,113 (GRCm39)	missense	possibly damaging	0.82
R7682:Car2	UTSW	3	14,953,025 (GRCm39)	missense	probably damaging	1.00
R7805:Car2	UTSW	3	14,965,130 (GRCm39)	missense	probably benign	0.00
R9086:Car2	UTSW	3	14,952,968 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- AAATCTTCCCACCATGCTGACGAG -3'
(R):5'- TTAGCTACAGAGAGGCGGTCACAC -3'

Sequencing Primer
(F):5'- CTAAGTCAGACTTGTGAGACTCCAG -3'
(R):5'- AGGCGGTCACACTTGTGC -3'

Posted On

2013-05-09