Mutagenetix > Incidental Mutation

Incidental Mutation 'R9717:Car10'

730551

Institutional Source

Beutler Lab

Gene Symbol

Car10

Ensembl Gene

ENSMUSG00000056158

Gene Name

carbonic anhydrase 10

Synonyms

CA-RP X, 2700029L05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

R9717 (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 93195367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 58 (N58S)

Ref Sequence

ENSEMBL: ENSMUSP00000035585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042943] [ENSMUST00000107858] [ENSMUST00000107859] [ENSMUST00000107861] [ENSMUST00000107863]

AlphaFold

P61215

Predicted Effect

probably benign
Transcript: ENSMUST00000042943
AA Change: N58S

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000035585
Gene: ENSMUSG00000056158
AA Change: N58S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107858
AA Change: N58S

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103490
Gene: ENSMUSG00000056158
AA Change: N58S

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: ENSMUST00000107859
AA Change: N58S

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103491
Gene: ENSMUSG00000056158
AA Change: N58S

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Blast:Carb_anhydrase	33	98	8e-40	BLAST
SCOP:d2znc__	33	99	1e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107861
AA Change: N58S

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103493
Gene: ENSMUSG00000056158
AA Change: N58S

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Carb_anhydrase	33	169	2.14e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107863
AA Change: N58S

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103495
Gene: ENSMUSG00000056158
AA Change: N58S

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: 99.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,668,900 (GRCm39)	N2552I	probably damaging	Het
Amph	G	T	13: 19,309,253 (GRCm39)	A444S	probably benign	Het
Ankrd52	A	G	10: 128,216,457 (GRCm39)	N157S	probably benign	Het
Arhgap29	T	C	3: 121,797,920 (GRCm39)	F537L	probably benign	Het
Asic1	A	C	15: 99,590,657 (GRCm39)	T136P	probably damaging	Het
Atg2b	T	C	12: 105,605,561 (GRCm39)	Y1468C	probably benign	Het
Atm	A	G	9: 53,427,817 (GRCm39)	L431P	probably damaging	Het
Atosb	T	C	4: 43,036,050 (GRCm39)	H227R	probably damaging	Het
Btaf1	A	G	19: 36,922,646 (GRCm39)	T17A	probably benign	Het
Cd79b	A	T	11: 106,202,845 (GRCm39)	D252E	probably damaging	Het
Cdipt	C	T	7: 126,576,202 (GRCm39)		probably benign	Het
Cebpe	T	C	14: 54,949,165 (GRCm39)	D84G	probably damaging	Het
Cenpj	T	C	14: 56,790,453 (GRCm39)	E532G	probably benign	Het
Cherp	A	G	8: 73,216,920 (GRCm39)		probably null	Het
Chuk	T	C	19: 44,071,109 (GRCm39)	D532G	possibly damaging	Het
Clec1b	C	T	6: 129,374,603 (GRCm39)	T9I	probably benign	Het
Clspn	G	T	4: 126,458,756 (GRCm39)	A280S	possibly damaging	Het
Cts3	T	G	13: 61,712,799 (GRCm39)	Y307S	probably benign	Het
Cyp2c39	T	C	19: 39,556,493 (GRCm39)	M443T	possibly damaging	Het
Dhx57	C	T	17: 80,582,447 (GRCm39)	R386H	probably damaging	Het
Dhx58	A	T	11: 100,592,133 (GRCm39)	M305K	probably benign	Het
Dlgap3	T	C	4: 127,129,287 (GRCm39)	L894P	probably damaging	Het
Dnah3	A	T	7: 119,574,299 (GRCm39)	N2164K	probably damaging	Het
Dnajb14	A	G	3: 137,608,044 (GRCm39)	N183S	probably benign	Het
Drd5	G	T	5: 38,478,090 (GRCm39)	R361L	probably damaging	Het
Duoxa1	T	C	2: 122,135,622 (GRCm39)	E159G	probably damaging	Het
Exoc1	T	A	5: 76,711,079 (GRCm39)	S659R	probably benign	Het
Fbln7	T	C	2: 128,719,314 (GRCm39)	I37T	probably benign	Het
Fcgrt	T	G	7: 44,744,853 (GRCm39)	E205A	possibly damaging	Het
Fcho2	A	T	13: 98,900,202 (GRCm39)	S304T	probably damaging	Het
Gbp9	C	A	5: 105,253,587 (GRCm39)	G43*	probably null	Het
Gucy2d	A	G	7: 98,123,868 (GRCm39)	K151R	probably benign	Het
Heatr4	T	A	12: 84,024,829 (GRCm39)	I331F	probably damaging	Het
Hmcn1	G	A	1: 150,485,378 (GRCm39)	T4408I	probably damaging	Het
Hoxc9	C	T	15: 102,890,551 (GRCm39)	T156M	probably benign	Het
Hrnr	A	T	3: 93,227,987 (GRCm39)	E35V	probably damaging	Het
Idua	C	T	5: 108,818,037 (GRCm39)	Q70*	probably null	Het
Klf5	A	T	14: 99,539,189 (GRCm39)	I201F	probably damaging	Het
Lonrf1	T	C	8: 36,701,164 (GRCm39)	K349E	probably damaging	Het
Lrp1b	A	T	2: 41,158,395 (GRCm39)	D1721E		Het
Mdh1	T	A	11: 21,521,870 (GRCm39)		probably benign	Het
Mllt11	T	C	3: 95,127,521 (GRCm39)	H83R	probably benign	Het
Mrgprb4	A	C	7: 47,848,583 (GRCm39)	I115S	possibly damaging	Het
Mrpl38	A	G	11: 116,023,296 (GRCm39)	F319S	probably damaging	Het
Naif1	A	T	2: 32,344,907 (GRCm39)	M204L	probably benign	Het
Ncan	T	A	8: 70,554,628 (GRCm39)	D1063V	probably damaging	Het
Noto	A	T	6: 85,401,327 (GRCm39)	R119W	possibly damaging	Het
Or4c115	G	A	2: 88,927,573 (GRCm39)	L233F	probably benign	Het
Or51h7	A	T	7: 102,591,165 (GRCm39)	D206E	probably damaging	Het
Or6c69	T	A	10: 129,748,048 (GRCm39)	Y33F	probably damaging	Het
Or8b3	A	T	9: 38,314,841 (GRCm39)	I224F	probably damaging	Het
Ovch2	A	G	7: 107,393,584 (GRCm39)	W181R	probably damaging	Het
Palm	G	C	10: 79,655,117 (GRCm39)	G292R	probably damaging	Het
Pdgfrb	T	A	18: 61,205,787 (GRCm39)	L591*	probably null	Het
Pik3c2g	T	C	6: 139,841,910 (GRCm39)	S772P		Het
Prx	C	A	7: 27,217,411 (GRCm39)	D776E	probably benign	Het
Ptpra	A	G	2: 130,384,366 (GRCm39)	E562G	possibly damaging	Het
Rbm4b	A	G	19: 4,807,359 (GRCm39)	Y25C	probably damaging	Het
Reln	T	C	5: 22,136,427 (GRCm39)	T2534A	probably benign	Het
Rnf123	T	C	9: 107,954,963 (GRCm39)	S14G	probably benign	Het
Rock2	A	G	12: 17,015,602 (GRCm39)	H833R	probably benign	Het
Rxfp3	A	G	15: 11,037,111 (GRCm39)	V87A	possibly damaging	Het
S100b	G	A	10: 76,092,936 (GRCm39)	G23D	probably damaging	Het
Scn9a	T	A	2: 66,357,002 (GRCm39)	M1100L	probably benign	Het
Septin11	T	A	5: 93,296,266 (GRCm39)	S55T	possibly damaging	Het
Speer4a3	T	C	5: 26,154,829 (GRCm39)	E257G	probably damaging	Het
Sv2b	T	A	7: 74,769,676 (GRCm39)	Q622L	probably benign	Het
Taar7a	T	C	10: 23,868,799 (GRCm39)	D194G	probably benign	Het
Trappc3	T	C	4: 126,169,014 (GRCm39)	I168T	probably benign	Het
Trim27	T	C	13: 21,374,296 (GRCm39)		probably null	Het
Wdr49	G	A	3: 75,304,359 (GRCm39)	T109I	probably benign	Het
Wdr64	T	C	1: 175,544,854 (GRCm39)	Y96H	probably damaging	Het
Zfp219	A	T	14: 52,247,049 (GRCm39)	L26Q	probably damaging	Het
Zfp758	T	A	17: 22,593,829 (GRCm39)	V105D	possibly damaging	Het
Zfp975	C	G	7: 42,312,332 (GRCm39)	E94Q	possibly damaging	Het
Zfyve9	C	T	4: 108,539,334 (GRCm39)	A289T	probably benign	Het
Zscan5b	T	C	7: 6,234,525 (GRCm39)	S184P	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
R7995:Car10	UTSW	11	93,487,948 (GRCm39)	missense	probably damaging	0.99
Z1191:Car10	UTSW	11	93,195,462 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATCAACCAAGATGGAGGCCTG -3'
(R):5'- TCACAGAGCCTAAGGTCCAG -3'

Sequencing Primer
(F):5'- GGTGACAAGTTGAGGTCTCCCTAC -3'
(R):5'- GAGCCTAAGGTCCAGAAGCC -3'

Posted On

2022-10-06