Mutagenetix > Incidental Mutation

Incidental Mutation 'R7995:Car10'

616045

Institutional Source

Beutler Lab

Gene Symbol

Car10

Ensembl Gene

ENSMUSG00000056158

Gene Name

carbonic anhydrase 10

Synonyms

CA-RP X, 2700029L05Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

R7995 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92988854-93492575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93487948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 215 (Y215C)

Ref Sequence

ENSEMBL: ENSMUSP00000035585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042943] [ENSMUST00000107858] [ENSMUST00000107863]

AlphaFold

P61215

Predicted Effect

probably damaging
Transcript: ENSMUST00000042943
AA Change: Y215C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035585
Gene: ENSMUSG00000056158
AA Change: Y215C

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Carb_anhydrase	33	301	2.25e-86	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107858
AA Change: Y191C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103490
Gene: ENSMUSG00000056158
AA Change: Y191C

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Carb_anhydrase	33	277	2.21e-71	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107863
AA Change: Y215C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103495
Gene: ENSMUSG00000056158
AA Change: Y215C

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Carb_anhydrase	33	301	2.25e-86	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,350,528 (GRCm39)	T137S	unknown	Het
Apbb1	T	C	7: 105,214,852 (GRCm39)	D462G	probably benign	Het
Arhgef1	T	G	7: 24,618,641 (GRCm39)	L387R	probably damaging	Het
Ass1	A	G	2: 31,376,552 (GRCm39)	I139V	probably benign	Het
B4galt5	A	G	2: 167,143,296 (GRCm39)	V376A	probably damaging	Het
Bdkrb1	A	G	12: 105,571,379 (GRCm39)	N315S	probably damaging	Het
Brap	A	T	5: 121,820,909 (GRCm39)	I429L	probably benign	Het
Capn2	A	G	1: 182,306,111 (GRCm39)		probably null	Het
Ccdc102a	T	C	8: 95,634,495 (GRCm39)	T365A	probably damaging	Het
Cdc42ep1	A	G	15: 78,731,696 (GRCm39)	H47R	probably damaging	Het
Celsr3	G	A	9: 108,722,282 (GRCm39)	S2734N	probably damaging	Het
Cers5	A	C	15: 99,638,823 (GRCm39)		probably null	Het
Cfap43	T	C	19: 47,886,462 (GRCm39)	E51G	probably damaging	Het
Cftr	T	A	6: 18,214,155 (GRCm39)	D110E	probably damaging	Het
Cimap2	T	A	4: 106,473,112 (GRCm39)	H57L	probably benign	Het
Cntnap5a	A	G	1: 116,499,277 (GRCm39)	K1176E	probably damaging	Het
Dlx6	A	T	6: 6,867,277 (GRCm39)	R293S	probably damaging	Het
Dnah2	A	T	11: 69,411,563 (GRCm39)	F353Y	possibly damaging	Het
Dnajc13	A	T	9: 104,051,562 (GRCm39)	I1765N	probably damaging	Het
Ercc6	G	T	14: 32,284,526 (GRCm39)	R763L	probably damaging	Het
Furin	T	C	7: 80,045,195 (GRCm39)	N243S	probably damaging	Het
Hace1	A	G	10: 45,465,588 (GRCm39)	E48G	probably damaging	Het
Kcnv1	G	A	15: 44,972,743 (GRCm39)	T380I	probably damaging	Het
Klk4	T	A	7: 43,533,010 (GRCm39)	I32N	probably damaging	Het
Lingo2	T	C	4: 35,709,425 (GRCm39)	E185G	probably damaging	Het
Lrba	T	A	3: 86,526,858 (GRCm39)	W2239R	probably damaging	Het
Mical2	T	A	7: 111,980,975 (GRCm39)	D316E	probably benign	Het
Mlh1	G	T	9: 111,064,989 (GRCm39)	N555K	probably damaging	Het
Mroh2b	G	A	15: 4,950,839 (GRCm39)	W579*	probably null	Het
Mycs	G	A	X: 5,380,858 (GRCm39)	P74L	probably damaging	Het
Or5p62	A	T	7: 107,771,207 (GRCm39)	L248H	probably damaging	Het
Or6c1	T	C	10: 129,518,509 (GRCm39)	Y33C	probably damaging	Het
Pak2	T	C	16: 31,846,590 (GRCm39)	I365V	possibly damaging	Het
Pcdhga11	C	A	18: 37,890,078 (GRCm39)	S362*	probably null	Het
Pdk4	C	T	6: 5,487,093 (GRCm39)	V318M	probably benign	Het
Phc2	C	T	4: 128,603,401 (GRCm39)	T177M	probably damaging	Het
Phldb1	A	T	9: 44,626,669 (GRCm39)	L592Q	probably damaging	Het
Pigr	A	G	1: 130,769,423 (GRCm39)	Y78C	probably damaging	Het
Pnkp	T	A	7: 44,507,960 (GRCm39)	Y94*	probably null	Het
Polr2b	T	C	5: 77,473,614 (GRCm39)	V310A	possibly damaging	Het
Pramel21	A	G	4: 143,342,570 (GRCm39)	I226V	possibly damaging	Het
Prl7d1	T	A	13: 27,894,054 (GRCm39)	I171L	probably benign	Het
Rpusd4	A	G	9: 35,184,017 (GRCm39)	Y224C	probably damaging	Het
Scara5	C	A	14: 65,997,057 (GRCm39)	R390S	possibly damaging	Het
Scin	C	T	12: 40,129,804 (GRCm39)	V330I	probably benign	Het
Sdr42e1	T	A	8: 118,390,007 (GRCm39)	R211S	probably benign	Het
Slc36a3	C	A	11: 55,020,495 (GRCm39)	A292S	probably benign	Het
Spata31d1a	T	C	13: 59,848,924 (GRCm39)	D1068G	probably benign	Het
Srd5a1	T	A	13: 69,759,338 (GRCm39)	D10V	probably damaging	Het
Sspo	G	T	6: 48,469,823 (GRCm39)	C4507F	probably damaging	Het
Tmem94	G	A	11: 115,688,797 (GRCm39)	E1335K	probably damaging	Het
Tnfrsf13b	C	T	11: 61,031,742 (GRCm39)	Q28*	probably null	Het
Tspan3	A	T	9: 56,054,438 (GRCm39)	F88I	probably benign	Het
Ttn	T	C	2: 76,592,519 (GRCm39)	K20871R	probably benign	Het
Ube2j2	C	A	4: 156,041,795 (GRCm39)	Y263*	probably null	Het
Vcan	T	C	13: 89,839,977 (GRCm39)	T1856A	probably benign	Het
Vrk3	T	C	7: 44,413,585 (GRCm39)	L218P	probably damaging	Het
Zfp236	G	T	18: 82,657,461 (GRCm39)	H761N	probably damaging	Het
Zfp462	C	A	4: 55,011,907 (GRCm39)	A1291E	probably damaging	Het
Zfp827	T	A	8: 79,844,887 (GRCm39)	S686T	possibly damaging	Het

Other mutations in Car10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00670:Car10	APN	11	93,195,483 (GRCm39)	splice site	probably benign
IGL01077:Car10	APN	11	93,487,969 (GRCm39)	missense	possibly damaging	0.54
IGL01099:Car10	APN	11	93,469,516 (GRCm39)	missense	possibly damaging	0.91
IGL02810:Car10	APN	11	93,469,522 (GRCm39)	missense	probably damaging	1.00
IGL03037:Car10	APN	11	92,991,044 (GRCm39)	utr 5 prime	probably benign
IGL03061:Car10	APN	11	93,381,351 (GRCm39)	missense	probably damaging	0.98
IGL03105:Car10	APN	11	92,991,101 (GRCm39)	missense	probably benign	0.07
IGL03347:Car10	APN	11	92,991,122 (GRCm39)	splice site	probably benign
IGL02837:Car10	UTSW	11	93,488,077 (GRCm39)	missense	probably damaging	0.96
R0076:Car10	UTSW	11	93,381,423 (GRCm39)	missense	possibly damaging	0.93
R0076:Car10	UTSW	11	93,381,423 (GRCm39)	missense	possibly damaging	0.93
R0387:Car10	UTSW	11	93,473,847 (GRCm39)	critical splice donor site	probably null
R0511:Car10	UTSW	11	93,381,408 (GRCm39)	missense	probably damaging	1.00
R1372:Car10	UTSW	11	93,469,525 (GRCm39)	missense	probably benign	0.02
R4692:Car10	UTSW	11	93,075,984 (GRCm39)	critical splice donor site	probably null
R4799:Car10	UTSW	11	93,469,492 (GRCm39)	missense	possibly damaging	0.81
R5947:Car10	UTSW	11	93,381,439 (GRCm39)	missense	probably damaging	1.00
R6010:Car10	UTSW	11	93,490,149 (GRCm39)	missense	possibly damaging	0.52
R6013:Car10	UTSW	11	93,076,105 (GRCm39)	intron	probably benign
R7268:Car10	UTSW	11	93,490,077 (GRCm39)	missense	probably benign	0.26
R9717:Car10	UTSW	11	93,195,367 (GRCm39)	missense	probably benign	0.12
Z1191:Car10	UTSW	11	93,195,462 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAGCCACCTGGACTGTTTG -3'
(R):5'- GCCAATGAACTGAAGGTAAGCTC -3'

Sequencing Primer
(F):5'- GCCACCTGGACTGTTTGTGAAC -3'
(R):5'- GGTAAGCTCACCTGCATCCTG -3'

Posted On

2020-01-23