Mutagenetix > Incidental Mutation

Incidental Mutation 'R6010:Car10'

479718

Institutional Source

Beutler Lab

Gene Symbol

Car10

Ensembl Gene

ENSMUSG00000056158

Gene Name

carbonic anhydrase 10

Synonyms

CA-RP X, 2700029L05Rik

MMRRC Submission

044187-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.608) question?

Stock #

R6010 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92988854-93492575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93490149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 297 (I297V)

Ref Sequence

ENSEMBL: ENSMUSP00000103495 (fasta)

Gene Model

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

AlphaFold

P61215

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042943
AA Change: I297V

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000035585
Gene: ENSMUSG00000056158
AA Change: I297V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107858
AA Change: I273V

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103490
Gene: ENSMUSG00000056158
AA Change: I273V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107863
AA Change: I297V

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103495
Gene: ENSMUSG00000056158
AA Change: I297V

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

Meta Mutation Damage Score

0.0587

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	G	4: 56,743,870 (GRCm39)	I132M	possibly damaging	Het
Agap2	A	T	10: 126,926,779 (GRCm39)	I939F	probably damaging	Het
Ahctf1	A	G	1: 179,623,378 (GRCm39)	V80A	possibly damaging	Het
Atxn3	T	C	12: 101,914,285 (GRCm39)	D67G	probably damaging	Het
Avl9	G	A	6: 56,730,375 (GRCm39)	V573M	possibly damaging	Het
Baz1b	G	A	5: 135,246,305 (GRCm39)	E585K	possibly damaging	Het
Brms1l	T	C	12: 55,914,985 (GRCm39)	F298S	possibly damaging	Het
Camk2d	G	A	3: 126,591,363 (GRCm39)	V278I	possibly damaging	Het
Cfap65	C	T	1: 74,962,190 (GRCm39)	C677Y	probably damaging	Het
Cfap74	T	A	4: 155,538,495 (GRCm39)	D872E	possibly damaging	Het
Cgrrf1	A	C	14: 47,091,158 (GRCm39)	Q227H	probably damaging	Het
Chil4	A	G	3: 106,121,711 (GRCm39)	I46T	probably damaging	Het
Chpf2	A	T	5: 24,796,917 (GRCm39)	H621L	probably damaging	Het
Cluap1	C	T	16: 3,755,437 (GRCm39)	R351W	possibly damaging	Het
Cnot6	A	T	11: 49,574,066 (GRCm39)	Y201*	probably null	Het
Col15a1	T	C	4: 47,245,630 (GRCm39)	V127A	probably benign	Het
Col6a3	C	T	1: 90,701,219 (GRCm39)	V2566I	unknown	Het
Cope	T	A	8: 70,761,162 (GRCm39)	M88K	probably damaging	Het
Cops4	A	G	5: 100,691,776 (GRCm39)	I358M	possibly damaging	Het
Coro7	T	C	16: 4,487,820 (GRCm39)	E130G	possibly damaging	Het
Csrp3	A	G	7: 48,485,213 (GRCm39)		probably null	Het
Cyp4f39	T	C	17: 32,701,160 (GRCm39)	F217L	probably damaging	Het
Dmac1	A	G	4: 75,196,473 (GRCm39)	S6P	unknown	Het
Drd4	A	T	7: 140,874,709 (GRCm39)	I367F	probably damaging	Het
Efcc1	T	A	6: 87,730,711 (GRCm39)		probably null	Het
Emid1	A	T	11: 5,085,389 (GRCm39)	M119K	possibly damaging	Het
Fbn2	C	T	18: 58,202,596 (GRCm39)	D1237N	probably benign	Het
Fbxl18	C	A	5: 142,858,153 (GRCm39)	R761L	probably damaging	Het
Gbp10	A	C	5: 105,372,205 (GRCm39)	L185R	probably damaging	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gucd1	G	T	10: 75,256,600 (GRCm39)		probably benign	Het
Helb	G	A	10: 119,941,788 (GRCm39)	T300M	probably damaging	Het
Ifna11	A	T	4: 88,738,278 (GRCm39)	H28L	probably benign	Het
Kalrn	T	A	16: 33,830,950 (GRCm39)	N723I	probably benign	Het
Kcnb2	C	T	1: 15,780,790 (GRCm39)	S554F	possibly damaging	Het
Med1	A	C	11: 98,049,188 (GRCm39)	V536G	probably damaging	Het
Nanog	A	C	6: 122,690,255 (GRCm39)	N195T	probably benign	Het
Neu1	C	T	17: 35,151,031 (GRCm39)	S94F	probably damaging	Het
Nop58	T	A	1: 59,740,071 (GRCm39)	S154R	probably damaging	Het
Npl	A	T	1: 153,388,314 (GRCm39)	L239*	probably null	Het
Nrg1	G	A	8: 32,308,600 (GRCm39)	T483M	probably damaging	Het
Nup98	G	T	7: 101,829,636 (GRCm39)	F391L	probably damaging	Het
Or4c122	A	T	2: 89,079,087 (GRCm39)	I305K	probably benign	Het
Or5ar1	T	C	2: 85,671,905 (GRCm39)	I77V	probably benign	Het
Or5d47	A	T	2: 87,804,886 (GRCm39)	V41E	probably damaging	Het
Or5g26	T	C	2: 85,494,374 (GRCm39)	I135V	probably benign	Het
Pacsin2	A	G	15: 83,266,020 (GRCm39)	V59A	possibly damaging	Het
Pcsk9	C	T	4: 106,311,469 (GRCm39)	R254H	possibly damaging	Het
Pierce2	A	T	9: 72,887,488 (GRCm39)		probably null	Het
Psme2	C	A	14: 55,824,980 (GRCm39)		probably null	Het
Ptprc	T	A	1: 138,028,794 (GRCm39)	H468L	probably benign	Het
Rbp3	T	A	14: 33,676,604 (GRCm39)	I184N	probably damaging	Het
Serpinb1c	A	G	13: 33,066,042 (GRCm39)	L301P	probably damaging	Het
Smim6	G	T	11: 115,804,219 (GRCm39)	G2V	probably damaging	Het
Snrpb2	A	G	2: 142,912,815 (GRCm39)	D146G	possibly damaging	Het
Svep1	T	A	4: 58,115,832 (GRCm39)	S954C	possibly damaging	Het
Telo2	G	T	17: 25,323,852 (GRCm39)	T568N	possibly damaging	Het
Tpp2	T	C	1: 43,990,373 (GRCm39)		probably null	Het
Upf1	A	G	8: 70,789,675 (GRCm39)	V720A	probably damaging	Het
Vmn1r81	T	C	7: 11,994,349 (GRCm39)	I86M	possibly damaging	Het
Vps8	T	A	16: 21,363,955 (GRCm39)		probably benign	Het
Wdr70	T	C	15: 7,916,900 (GRCm39)		probably null	Het
Zfp385c	A	T	11: 100,548,363 (GRCm39)	S30T	probably benign	Het
Zfp607a	T	A	7: 27,577,254 (GRCm39)	L108*	probably null	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
R6013:Car10	UTSW	11	93,076,105 (GRCm39)	intron	probably benign
R7268:Car10	UTSW	11	93,490,077 (GRCm39)	missense	probably benign	0.26
R7995:Car10	UTSW	11	93,487,948 (GRCm39)	missense	probably damaging	0.99
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'- ATGCTGGCCAGACAACAGTC -3'
(R):5'- ACCAATGCAGTCAGGGTTTTG -3'

Sequencing Primer
(F):5'- TGGCCAGACAACAGTCTACTTGG -3'
(R):5'- ATCAGGTGTGGCAGTGACTTTAC -3'

Posted On

2017-06-26