Mutagenetix > Incidental Mutation

Incidental Mutation 'R7682:Car2'

592800

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

045748-MU

Accession Numbers

Essential gene?

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

Stock #

R7682 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14951333-14965830 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14953025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 56 (S56P)

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: S56P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029078
Gene: ENSMUSG00000027562
AA Change: S56P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000192609
AA Change: S56P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141876
Gene: ENSMUSG00000027562
AA Change: S56P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195520

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	T	A	16: 88,556,373 (GRCm39)	S196T	probably benign	Het
Abcc5	T	C	16: 20,186,803 (GRCm39)	D977G	probably damaging	Het
Acot2	T	C	12: 84,034,698 (GRCm39)	V8A	probably benign	Het
Adamts9	T	A	6: 92,857,679 (GRCm39)	I870F	possibly damaging	Het
Adgrl3	G	A	5: 81,942,407 (GRCm39)	V1414I	probably damaging	Het
Aggf1	T	C	13: 95,504,934 (GRCm39)	K275R	probably benign	Het
Alpk1	T	C	3: 127,466,195 (GRCm39)	I1104V	possibly damaging	Het
Angptl7	A	T	4: 148,582,539 (GRCm39)	I119N	probably damaging	Het
Ank3	A	T	10: 69,824,065 (GRCm39)	E129D	possibly damaging	Het
Brca2	T	A	5: 150,466,618 (GRCm39)	H2127Q	probably benign	Het
Brd4	A	G	17: 32,420,134 (GRCm39)	F1008S	unknown	Het
Casp3	A	G	8: 47,085,420 (GRCm39)	Y41C	probably benign	Het
Ces4a	A	T	8: 105,873,297 (GRCm39)	T381S	probably benign	Het
Clstn1	A	G	4: 149,710,558 (GRCm39)	T77A	possibly damaging	Het
Cul7	G	T	17: 46,966,521 (GRCm39)	V615L	probably benign	Het
Dnpep	A	G	1: 75,293,384 (GRCm39)	F24L	probably damaging	Het
Efcab3	T	A	11: 104,855,174 (GRCm39)		probably null	Het
Emsy	G	A	7: 98,239,905 (GRCm39)	R1263W	probably damaging	Het
Fam124b	A	T	1: 80,191,282 (GRCm39)	C34S	possibly damaging	Het
Fan1	C	A	7: 64,022,512 (GRCm39)	G247V	probably benign	Het
Fbxl9	C	A	8: 106,041,916 (GRCm39)	R304L	possibly damaging	Het
Glipr1l3	T	G	10: 111,977,777 (GRCm39)	H218P	probably benign	Het
Gm14305	T	A	2: 176,412,703 (GRCm39)	S198R	probably benign	Het
Gm14326	T	C	2: 177,590,274 (GRCm39)	Y29C	probably damaging	Het
Gm45713	C	T	7: 44,783,426 (GRCm39)	V147I	probably benign	Het
Gpr149	C	T	3: 62,438,160 (GRCm39)	D666N	probably damaging	Het
Gpr183	A	G	14: 122,192,152 (GRCm39)	I123T	possibly damaging	Het
Il7r	A	T	15: 9,513,013 (GRCm39)	H165Q	probably damaging	Het
Krt73	A	G	15: 101,710,480 (GRCm39)	F85L	probably benign	Het
Lrrc8d	A	G	5: 105,960,657 (GRCm39)	T356A	probably damaging	Het
Marco	A	G	1: 120,421,771 (GRCm39)		probably null	Het
Mettl14	T	A	3: 123,177,253 (GRCm39)	E49D	possibly damaging	Het
Mrap	T	A	16: 90,546,110 (GRCm39)		probably null	Het
Mrps34	C	T	17: 25,114,852 (GRCm39)	A152V	probably benign	Het
Nfasc	T	A	1: 132,501,511 (GRCm39)	Y1163F	unknown	Het
Nfic	T	C	10: 81,256,334 (GRCm39)	D110G	probably damaging	Het
Nip7	T	C	8: 107,783,751 (GRCm39)	V28A	possibly damaging	Het
Odam	T	C	5: 88,040,287 (GRCm39)	F251S	possibly damaging	Het
Olfm5	T	A	7: 103,810,979 (GRCm39)	Q53L	probably null	Het
P2ry13	T	G	3: 59,117,545 (GRCm39)	M78L	probably benign	Het
Pacs1	T	C	19: 5,202,727 (GRCm39)	E385G	probably damaging	Het
Pip5k1b	C	T	19: 24,337,343 (GRCm39)	G315D	probably damaging	Het
Pla2g4a	C	A	1: 149,762,022 (GRCm39)	R145L	probably damaging	Het
Pramel26	A	G	4: 143,537,290 (GRCm39)	L347S	probably benign	Het
Rars1	T	C	11: 35,719,579 (GRCm39)	Q81R	probably benign	Het
Rassf7	A	G	7: 140,797,847 (GRCm39)	N296D	probably damaging	Het
Rcsd1	C	T	1: 165,485,262 (GRCm39)	A94T	probably benign	Het
Rgs8	T	C	1: 153,566,668 (GRCm39)	F73S	probably damaging	Het
Rilpl2	A	C	5: 124,616,043 (GRCm39)	Y36D	probably damaging	Het
Rpl10l	A	G	12: 66,331,004 (GRCm39)	V43A	probably benign	Het
Sesn2	T	C	4: 132,224,200 (GRCm39)	I403V	probably damaging	Het
Slc10a4	C	T	5: 73,164,453 (GRCm39)	S15L	unknown	Het
Slc7a5	T	C	8: 122,633,879 (GRCm39)	Y156C	probably damaging	Het
Spata18	A	G	5: 73,826,008 (GRCm39)	H105R		Het
Specc1l	A	G	10: 75,081,636 (GRCm39)	D344G	probably damaging	Het
Syne1	A	G	10: 5,112,461 (GRCm39)	V415A	probably benign	Het
Thbs4	T	G	13: 92,912,070 (GRCm39)	D220A	probably benign	Het
Tmco5	T	C	2: 116,716,752 (GRCm39)	S152P	probably benign	Het
Tmem35b	A	T	4: 127,022,734 (GRCm39)	D125V	probably damaging	Het
Trim17	A	G	11: 58,857,634 (GRCm39)	E155G	possibly damaging	Het
Vmn2r11	A	C	5: 109,195,481 (GRCm39)	V615G	probably benign	Het
Vmn2r88	A	T	14: 51,655,906 (GRCm39)	Q705L		Het
Vmn2r93	A	G	17: 18,525,583 (GRCm39)	R414G	probably benign	Het
Xirp2	T	C	2: 67,339,193 (GRCm39)	L478P	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
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
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'- TGAACTGAGCAGACTGTCTAGAAAC -3'
(R):5'- CAAATTGTGGTGGCAGGGAC -3'

Sequencing Primer
(F):5'- TGTCTAGAAACACCAGTGGCTTC -3'
(R):5'- GACCTCCTGCCGGTGTC -3'

Posted On

2019-11-12