Mutagenetix > Incidental Mutation

Incidental Mutation 'R9781:Car12'

734061

Institutional Source

Beutler Lab

Gene Symbol

Car12

Ensembl Gene

ENSMUSG00000032373

Gene Name

carbonic anhydrase 12

Synonyms

CA XII, 2310047E01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9781 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66620968-66674127 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 66624844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 30 (S30A)

Ref Sequence

ENSEMBL: ENSMUSP00000071786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071889] [ENSMUST00000085420]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000071889
AA Change: S30A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000071786
Gene: ENSMUSG00000032373
AA Change: S30A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Carb_anhydrase	32	290	8.86e-126	SMART
transmembrane domain	305	327	N/A	INTRINSIC
low complexity region	328	338	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085420
AA Change: S30A

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000082541
Gene: ENSMUSG00000032373
AA Change: S30A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Carb_anhydrase	32	290	8.86e-126	SMART
transmembrane domain	295	317	N/A	INTRINSIC
low complexity region	318	328	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.1%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a membrane-bound member of the alpha carbonic anhydrase family of enzymes that catalyze the reversible hydration of carbon dioxide to bicarbonate. These proteins participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a transposon-induced mutation that inactivates this gene display reduced fitness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,519,860 (GRCm39)	F1386L	probably benign	Het
Aoc1l2	G	A	6: 48,907,660 (GRCm39)	S220N	possibly damaging	Het
Ap3d1	A	C	10: 80,545,609 (GRCm39)	L1040R	possibly damaging	Het
Bag4	T	A	8: 26,259,564 (GRCm39)	N212Y	probably damaging	Het
Bop1	A	T	15: 76,338,041 (GRCm39)	S610T	probably damaging	Het
Ccdc14	A	T	16: 34,543,984 (GRCm39)	T829S	possibly damaging	Het
Ccn6	T	A	10: 39,027,167 (GRCm39)	*355L	probably null	Het
Cdc14a	A	T	3: 116,122,274 (GRCm39)	I231N	probably benign	Het
Ceacam14	A	T	7: 17,549,082 (GRCm39)	I158F	possibly damaging	Het
Clca4a	G	T	3: 144,667,713 (GRCm39)	S419R	probably benign	Het
Clec2g	A	G	6: 128,960,012 (GRCm39)	N258D	probably benign	Het
Cntn5	A	C	9: 10,048,686 (GRCm39)		probably null	Het
Col5a3	T	A	9: 20,721,272 (GRCm39)	S72C	unknown	Het
Dmbt1	G	C	7: 130,639,599 (GRCm39)	V46L	probably benign	Het
Dnah7b	A	G	1: 46,376,754 (GRCm39)		probably null	Het
Dnase1	T	C	16: 3,857,054 (GRCm39)	S204P	probably benign	Het
Dnhd1	A	G	7: 105,352,917 (GRCm39)	E2690G	probably benign	Het
Dst	T	C	1: 34,218,075 (GRCm39)	L1505P	probably benign	Het
Dzip1	G	A	14: 119,148,834 (GRCm39)	L282F	probably benign	Het
E330034G19Rik	A	G	14: 24,359,528 (GRCm39)	E313G	unknown	Het
Epc1	A	T	18: 6,455,187 (GRCm39)		probably null	Het
Herc1	T	C	9: 66,280,004 (GRCm39)	M304T	probably benign	Het
Herc2	A	T	7: 55,750,096 (GRCm39)	I594F	possibly damaging	Het
Hivep2	T	A	10: 14,005,828 (GRCm39)	S809T	probably benign	Het
Hnrnph3	A	T	10: 62,853,861 (GRCm39)	M132K	unknown	Het
Hrnr	A	T	3: 93,239,696 (GRCm39)	R3311S	unknown	Het
Jph3	T	C	8: 122,457,380 (GRCm39)	F7L	probably damaging	Het
Med13l	C	T	5: 118,868,032 (GRCm39)	T732M	possibly damaging	Het
Mocos	A	T	18: 24,828,939 (GRCm39)	H748L	probably benign	Het
Mrc1	A	G	2: 14,249,100 (GRCm39)	H212R	probably benign	Het
Mrc1	A	T	2: 14,310,175 (GRCm39)	Y812F	possibly damaging	Het
Mthfr	T	C	4: 148,132,710 (GRCm39)	I296T	probably damaging	Het
Ncdn	G	A	4: 126,642,467 (GRCm39)	R397W	probably damaging	Het
Nefh	G	A	11: 4,895,271 (GRCm39)	T306I	probably damaging	Het
Nme7	C	A	1: 164,155,890 (GRCm39)	A30E	possibly damaging	Het
Or52z15	T	A	7: 103,332,246 (GRCm39)	M97K	probably damaging	Het
Pappa	T	A	4: 65,043,104 (GRCm39)	L109Q	possibly damaging	Het
Pcdha2	A	G	18: 37,074,102 (GRCm39)	S578G	probably benign	Het
Pcf11	A	T	7: 92,297,228 (GRCm39)	D1361E	possibly damaging	Het
Pcm1	T	C	8: 41,720,398 (GRCm39)	S320P	probably damaging	Het
Pex19	T	A	1: 171,956,855 (GRCm39)	F105Y	probably damaging	Het
Pgap4	C	T	4: 49,586,890 (GRCm39)	V93I	probably benign	Het
Pggt1b	A	T	18: 46,392,779 (GRCm39)	M124K	probably damaging	Het
Phkg1	T	A	5: 129,895,807 (GRCm39)	H148L	probably damaging	Het
Phlpp2	G	T	8: 110,662,178 (GRCm39)	R855L	possibly damaging	Het
Pkhd1	T	A	1: 20,187,665 (GRCm39)	I3548L	possibly damaging	Het
Plce1	T	G	19: 38,513,654 (GRCm39)	S318A	probably damaging	Het
Plcxd2	A	G	16: 45,830,117 (GRCm39)	W35R	probably benign	Het
Prl2b1	T	A	13: 27,569,129 (GRCm39)	E156D	possibly damaging	Het
Ptpn21	A	G	12: 98,655,170 (GRCm39)	V599A	probably damaging	Het
Raly	T	C	2: 154,699,265 (GRCm39)	V23A	probably damaging	Het
Rapgef3	T	C	15: 97,643,479 (GRCm39)	I911V	probably damaging	Het
Rhbdl1	A	G	17: 26,055,443 (GRCm39)	V48A	probably benign	Het
Rhpn1	C	T	15: 75,582,543 (GRCm39)	Q212*	probably null	Het
Sec24b	G	T	3: 129,789,742 (GRCm39)	P760T	probably damaging	Het
Septin8	C	A	11: 53,422,889 (GRCm39)	Q33K	probably damaging	Het
Serpinb6a	T	C	13: 34,109,346 (GRCm39)	T150A	probably benign	Het
Shmt1	A	T	11: 60,692,329 (GRCm39)	H142Q	probably damaging	Het
Slc27a3	G	A	3: 90,296,591 (GRCm39)	S127L		Het
Slc4a5	G	A	6: 83,239,466 (GRCm39)	A242T	probably benign	Het
Sphkap	G	A	1: 83,255,772 (GRCm39)	T659I	possibly damaging	Het
Ssbp3	T	C	4: 106,905,224 (GRCm39)	S381P	probably damaging	Het
Stxbp5l	C	T	16: 37,165,485 (GRCm39)	D78N	probably benign	Het
Suv39h2	G	T	2: 3,463,631 (GRCm39)	Q362K	probably benign	Het
Tcerg1	G	A	18: 42,701,030 (GRCm39)	R828Q	probably damaging	Het
Tgm2	T	G	2: 157,971,321 (GRCm39)	D306A	probably damaging	Het
Tmem79	A	G	3: 88,239,931 (GRCm39)	C260R	possibly damaging	Het
Ubn2	C	A	6: 38,466,190 (GRCm39)	A508E	probably benign	Het
Uggt2	T	A	14: 119,232,384 (GRCm39)	H1489L	possibly damaging	Het
Wnt16	T	C	6: 22,291,114 (GRCm39)	F181L	probably damaging	Het
Zfp326	T	C	5: 106,062,825 (GRCm39)	F565L	unknown	Het
Zfp62	T	A	11: 49,106,297 (GRCm39)	C129*	probably null	Het

Other mutations in Car12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01915:Car12	APN	9	66,670,552 (GRCm39)	missense	possibly damaging	0.73
IGL02280:Car12	APN	9	66,653,857 (GRCm39)	missense	probably damaging	1.00
IGL02347:Car12	APN	9	66,671,629 (GRCm39)	missense	possibly damaging	0.62
IGL02582:Car12	APN	9	66,621,159 (GRCm39)	missense	probably benign
IGL02612:Car12	APN	9	66,669,706 (GRCm39)	missense	probably damaging	0.97
IGL02645:Car12	APN	9	66,654,961 (GRCm39)	missense	probably benign	0.42
LCD18:Car12	UTSW	9	66,668,958 (GRCm39)	intron	probably benign
R2033:Car12	UTSW	9	66,624,840 (GRCm39)	critical splice acceptor site	probably null
R2118:Car12	UTSW	9	66,621,174 (GRCm39)	missense	probably benign	0.05
R2263:Car12	UTSW	9	66,654,913 (GRCm39)	nonsense	probably null
R3111:Car12	UTSW	9	66,661,008 (GRCm39)	missense	probably damaging	1.00
R3710:Car12	UTSW	9	66,658,260 (GRCm39)	missense	probably damaging	1.00
R3872:Car12	UTSW	9	66,624,834 (GRCm39)	splice site	probably benign
R3875:Car12	UTSW	9	66,624,834 (GRCm39)	splice site	probably benign
R4898:Car12	UTSW	9	66,671,600 (GRCm39)	nonsense	probably null
R5046:Car12	UTSW	9	66,653,895 (GRCm39)	missense	probably benign
R6238:Car12	UTSW	9	66,661,008 (GRCm39)	missense	probably damaging	1.00
R6788:Car12	UTSW	9	66,659,244 (GRCm39)	missense	probably damaging	0.98
R7105:Car12	UTSW	9	66,659,688 (GRCm39)	missense	probably damaging	1.00
R7231:Car12	UTSW	9	66,659,599 (GRCm39)	missense	probably damaging	0.99
R7380:Car12	UTSW	9	66,654,945 (GRCm39)	missense	probably benign	0.03
R8302:Car12	UTSW	9	66,654,879 (GRCm39)	missense	probably benign
X0019:Car12	UTSW	9	66,659,239 (GRCm39)	missense	probably damaging	1.00
Z1177:Car12	UTSW	9	66,659,236 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TCCAGAAGCCCCTGTAAGTC -3'
(R):5'- GAGGAGCACTGATCTACACAAC -3'

Sequencing Primer
(F):5'- TGTAAACTCCCCATCCTGAGC -3'
(R):5'- AACTCCATCCTCAGGTTGCAGATG -3'

Posted On

2022-11-14