Mutagenetix > Incidental Mutation

Incidental Mutation 'R4409:Car2'

327791

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

041691-MU

Accession Numbers

Essential gene?

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

Stock #

R4409 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14951333-14965830 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14960162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 105 (S105T)

Ref Sequence

ENSEMBL: ENSMUSP00000141876 (fasta)

Gene Model

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

AlphaFold

P00920

Predicted Effect

probably damaging
Transcript: ENSMUST00000029078
AA Change: S105T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029078
Gene: ENSMUSG00000027562
AA Change: S105T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000192609
AA Change: S105T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141876
Gene: ENSMUSG00000027562
AA Change: S105T

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	T	4: 144,447,872 (GRCm39)	S35T	possibly damaging	Het
Abcb5	A	C	12: 118,836,657 (GRCm39)	L1085V	probably damaging	Het
Adgrf5	T	C	17: 43,752,738 (GRCm39)	V560A	probably damaging	Het
Ambp	C	A	4: 63,070,884 (GRCm39)	S65I	probably damaging	Het
Ash1l	A	G	3: 88,914,506 (GRCm39)	D1712G	probably damaging	Het
Capn7	T	C	14: 31,077,296 (GRCm39)	L338P	probably damaging	Het
Casr	A	G	16: 36,320,703 (GRCm39)	C482R	probably benign	Het
Ccdc18	C	T	5: 108,368,708 (GRCm39)	Q1277*	probably null	Het
Clca3a1	A	G	3: 144,711,788 (GRCm39)	F736L	probably damaging	Het
Col6a1	T	C	10: 76,557,334 (GRCm39)	H206R	probably benign	Het
Crybg1	C	T	10: 43,874,754 (GRCm39)	A785T	possibly damaging	Het
Cyp2c68	T	A	19: 39,727,896 (GRCm39)	E85D	probably damaging	Het
Dnah9	T	C	11: 65,976,303 (GRCm39)	S1249G	possibly damaging	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Fbxw24	A	T	9: 109,437,256 (GRCm39)	D210E	probably damaging	Het
Fcgr1	T	C	3: 96,191,893 (GRCm39)	Y305C	probably benign	Het
Gm10226	G	T	17: 21,910,876 (GRCm39)	C37F	possibly damaging	Het
Greb1l	A	G	18: 10,503,182 (GRCm39)	Y411C	possibly damaging	Het
Grin1	T	C	2: 25,200,451 (GRCm39)	N224D	possibly damaging	Het
H2-T5	T	A	17: 36,476,742 (GRCm39)	H244L	possibly damaging	Het
Ighmbp2	C	T	19: 3,321,536 (GRCm39)	V408I	probably benign	Het
Il1rap	G	A	16: 26,531,015 (GRCm39)		probably null	Het
Iqcg	A	G	16: 32,865,888 (GRCm39)		probably null	Het
Klhdc3	C	T	17: 46,987,944 (GRCm39)	G249E	probably damaging	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Macrod2	T	G	2: 140,260,777 (GRCm39)	H68Q	possibly damaging	Het
Morn4	T	C	19: 42,066,986 (GRCm39)	T2A	possibly damaging	Het
Msc	G	C	1: 14,825,902 (GRCm39)	P24R	probably damaging	Het
Msh5	T	C	17: 35,258,226 (GRCm39)	D300G	probably damaging	Het
Myo10	A	G	15: 25,807,955 (GRCm39)	Y1859C	probably damaging	Het
Nacc1	A	G	8: 85,399,673 (GRCm39)	*515Q	probably null	Het
Or1ad6	T	A	11: 50,860,223 (GRCm39)	I126N	probably damaging	Het
Or4n5	T	A	14: 50,133,230 (GRCm39)	T10S	probably benign	Het
Or5g29	T	C	2: 85,421,274 (GRCm39)	L130S	probably damaging	Het
Oxgr1	C	T	14: 120,259,572 (GRCm39)	V212M	possibly damaging	Het
P3h2	G	C	16: 25,924,040 (GRCm39)	R132G	possibly damaging	Het
Pcdha9	T	A	18: 37,132,198 (GRCm39)	H422Q	probably benign	Het
Pcdhga12	A	G	18: 37,901,138 (GRCm39)	T657A	probably damaging	Het
Pcx	A	G	19: 4,660,031 (GRCm39)	K442R	possibly damaging	Het
Pkd2	T	C	5: 104,614,750 (GRCm39)		silent	Het
Plg	T	G	17: 12,609,150 (GRCm39)	C152G	probably damaging	Het
Plk4	A	G	3: 40,760,984 (GRCm39)	E438G	probably damaging	Het
Ryr3	A	G	2: 112,560,653 (GRCm39)	L3016P	probably damaging	Het
Sdccag8	T	G	1: 176,695,932 (GRCm39)		probably null	Het
Slc24a1	A	T	9: 64,855,506 (GRCm39)	M467K	probably benign	Het
Sorl1	T	G	9: 41,946,744 (GRCm39)	I856L	probably damaging	Het
Spag7	T	C	11: 70,555,688 (GRCm39)	D83G	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tmprss11b	T	C	5: 86,812,137 (GRCm39)	N170S	probably benign	Het
Tnfrsf1b	G	A	4: 144,950,855 (GRCm39)	Q253*	probably null	Het
Trim12a	G	A	7: 103,956,201 (GRCm39)	A113V	probably benign	Het
Ttn	A	G	2: 76,727,987 (GRCm39)		probably benign	Het
Vmn1r213	A	C	13: 23,195,593 (GRCm39)		probably benign	Het
Vmn1r54	C	A	6: 90,246,864 (GRCm39)	Y259*	probably null	Het
Vmn1r55	A	G	7: 5,150,075 (GRCm39)	V116A	probably benign	Het
Vmn2r120	T	C	17: 57,816,477 (GRCm39)	N626S	probably damaging	Het
Vmn2r58	A	G	7: 41,522,051 (GRCm39)	F15S	possibly damaging	Het
Vmn2r73	A	T	7: 85,520,768 (GRCm39)	V400E	probably damaging	Het
Zbtb39	A	G	10: 127,578,696 (GRCm39)	I423M	possibly damaging	Het
Zfp352	A	G	4: 90,113,401 (GRCm39)	N514D	probably benign	Het
Zfp451	A	T	1: 33,816,494 (GRCm39)	H485Q	probably damaging	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
R0257:Car2	UTSW	3	14,965,037 (GRCm39)	missense	probably benign	0.00
R1260:Car2	UTSW	3	14,960,640 (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'- ACATCTGTTGTCCAGCAGTTAG -3'
(R):5'- CTTCAAGAGCAATGCTAAGACAAGG -3'

Sequencing Primer
(F):5'- CAGTTAGCACATTGGAAAGTAAAAC -3'
(R):5'- GGACATGTAGAATTTTTAGAAAAGGC -3'

Posted On

2015-07-07