Mutagenetix > Incidental Mutation

Incidental Mutation 'R6924:Car6'

539779

Institutional Source

Beutler Lab

Gene Symbol

Car6

Ensembl Gene

ENSMUSG00000028972

Gene Name

carbonic anhydrase 6

Synonyms

DOC1

MMRRC Submission

045042-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6924 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150271472-150285592 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 150273713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101308 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030817] [ENSMUST00000030817] [ENSMUST00000030817] [ENSMUST00000105683] [ENSMUST00000105683] [ENSMUST00000105683]

AlphaFold

P18761

Predicted Effect

probably null
Transcript: ENSMUST00000030817

SMART Domains

Protein: ENSMUSP00000030817
Gene: ENSMUSG00000028972

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Carb_anhydrase	21	277	4.31e-106	SMART
low complexity region	295	309	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000030817

SMART Domains

Protein: ENSMUSP00000030817
Gene: ENSMUSG00000028972

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Carb_anhydrase	21	277	4.31e-106	SMART
low complexity region	295	309	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000030817

SMART Domains

Protein: ENSMUSP00000030817
Gene: ENSMUSG00000028972

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Carb_anhydrase	21	277	4.31e-106	SMART
low complexity region	295	309	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000105683

SMART Domains

Protein: ENSMUSP00000101308
Gene: ENSMUSG00000028972

Domain	Start	End	E-Value	Type
Carb_anhydrase	1	221	3.55e-75	SMART
low complexity region	239	253	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000105683

SMART Domains

Protein: ENSMUSP00000101308
Gene: ENSMUSG00000028972

Domain	Start	End	E-Value	Type
Carb_anhydrase	1	221	3.55e-75	SMART
low complexity region	239	253	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000105683

SMART Domains

Protein: ENSMUSP00000101308
Gene: ENSMUSG00000028972

Domain	Start	End	E-Value	Type
Carb_anhydrase	1	221	3.55e-75	SMART
low complexity region	239	253	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

98% (54/55)

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. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increase in the number of lymphoid follicles in Peyer's patches. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	C	4: 39,450,884 (GRCm39)	H30P	probably damaging	Het
Abhd6	A	T	14: 8,049,850 (GRCm38)	H213L	possibly damaging	Het
Adam22	T	A	5: 8,417,322 (GRCm39)	N40I	possibly damaging	Het
Ankrd42	A	G	7: 92,231,224 (GRCm39)		probably benign	Het
Arhgap40	C	T	2: 158,369,066 (GRCm39)	R63C	probably benign	Het
Atf7ip	T	G	6: 136,536,755 (GRCm39)		probably null	Het
Atg7	T	C	6: 114,686,172 (GRCm39)		probably null	Het
Carmil1	A	T	13: 24,259,667 (GRCm39)	C302*	probably null	Het
Ccdc117	A	T	11: 5,484,255 (GRCm39)	M195K	probably benign	Het
Cep95	T	C	11: 106,702,023 (GRCm39)	M383T	probably damaging	Het
Col20a1	A	G	2: 180,638,643 (GRCm39)	E419G	probably damaging	Het
Cyp2d9	C	G	15: 82,339,413 (GRCm39)	R272G	probably damaging	Het
Dhx57	A	T	17: 80,546,244 (GRCm39)	M1380K	possibly damaging	Het
Dnah14	A	G	1: 181,455,517 (GRCm39)	S881G	probably benign	Het
Fcgbp	T	A	7: 27,793,248 (GRCm39)	I1084N	probably benign	Het
Fgf17	A	T	14: 70,878,981 (GRCm39)	C21*	probably null	Het
Gemin4	A	G	11: 76,103,162 (GRCm39)	L533P	probably damaging	Het
Gkn3	T	C	6: 87,365,784 (GRCm39)	R12G	probably benign	Het
Gpr161	G	T	1: 165,149,188 (GRCm39)	R519L	possibly damaging	Het
Grin2a	A	G	16: 9,481,092 (GRCm39)	V535A	possibly damaging	Het
Gys1	G	A	7: 45,093,059 (GRCm39)		probably null	Het
Hfm1	C	T	5: 106,998,276 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,240,517 (GRCm39)		probably null	Het
Hnrnpul2	T	C	19: 8,808,873 (GRCm39)	Y738H	unknown	Het
Hycc1	T	C	5: 24,191,133 (GRCm39)		probably null	Het
Igsf23	A	G	7: 19,675,684 (GRCm39)	S141P	possibly damaging	Het
Lamc3	A	C	2: 31,828,081 (GRCm39)	M1423L	probably benign	Het
Lcmt2	T	C	2: 120,970,484 (GRCm39)	T200A	probably benign	Het
Lgr4	T	C	2: 109,842,784 (GRCm39)	V899A	probably damaging	Het
Macf1	T	A	4: 123,421,145 (GRCm39)	R36S	possibly damaging	Het
Mrgprb8	A	G	7: 48,038,871 (GRCm39)	K181E	possibly damaging	Het
Muc2	G	A	7: 141,284,077 (GRCm39)	V786M	possibly damaging	Het
Nacc2	T	C	2: 25,980,041 (GRCm39)	T132A	probably damaging	Het
Nsmce2	T	A	15: 59,250,774 (GRCm39)	I15K	probably damaging	Het
Or10p22	T	G	10: 128,825,960 (GRCm39)	Y60D	probably damaging	Het
Or4k15c	A	G	14: 50,321,307 (GRCm39)	I277T	possibly damaging	Het
Otoa	A	T	7: 120,730,724 (GRCm39)		probably null	Het
Otogl	A	G	10: 107,644,502 (GRCm39)	I1248T	probably damaging	Het
Ppp1r17	T	A	6: 56,003,007 (GRCm39)	D32E	probably damaging	Het
Relt	A	C	7: 100,496,468 (GRCm39)	V427G	probably damaging	Het
Ric1	T	A	19: 29,546,788 (GRCm39)	V256D	probably damaging	Het
Samhd1	T	C	2: 156,951,403 (GRCm39)	T445A	probably benign	Het
Sepsecs	T	C	5: 52,821,646 (GRCm39)	I189V	probably benign	Het
Shroom3	T	A	5: 93,112,262 (GRCm39)	D1793E	probably damaging	Het
Sim1	C	T	10: 50,784,635 (GRCm39)	T137I	probably benign	Het
Stk17b	A	T	1: 53,800,218 (GRCm39)	D253E	possibly damaging	Het
Stmnd1	T	C	13: 46,452,969 (GRCm39)	V215A	probably benign	Het
Tcl1	A	G	12: 105,185,015 (GRCm39)	L65P	probably damaging	Het
Tiam2	A	C	17: 3,558,070 (GRCm39)	K1231N	probably damaging	Het
Tm9sf3	T	C	19: 41,206,717 (GRCm39)	Y476C	probably damaging	Het
Trim63	T	C	4: 134,048,572 (GRCm39)	S194P	probably damaging	Het
Ugt1a10	T	A	1: 87,983,379 (GRCm39)	I59N	probably damaging	Het
Vmn2r65	A	G	7: 84,613,198 (GRCm39)	F7S	probably benign	Het
Zfp775	T	A	6: 48,596,589 (GRCm39)	H154Q	probably damaging	Het
Zfp804b	C	T	5: 6,819,902 (GRCm39)	V1018I	probably benign	Het

Other mutations in Car6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Car6	APN	4	150,282,610 (GRCm39)	missense	probably benign	0.38
IGL02483:Car6	APN	4	150,280,586 (GRCm39)	missense	probably damaging	1.00
IGL03267:Car6	APN	4	150,280,503 (GRCm39)	splice site	probably benign
R0226:Car6	UTSW	4	150,271,965 (GRCm39)	missense	probably damaging	0.97
R0987:Car6	UTSW	4	150,281,800 (GRCm39)	missense	probably damaging	1.00
R1569:Car6	UTSW	4	150,285,499 (GRCm39)	missense	probably damaging	1.00
R1627:Car6	UTSW	4	150,277,035 (GRCm39)	missense	probably damaging	0.96
R2080:Car6	UTSW	4	150,282,598 (GRCm39)	missense	probably benign	0.01
R4812:Car6	UTSW	4	150,281,872 (GRCm39)	missense	probably damaging	0.96
R5902:Car6	UTSW	4	150,271,956 (GRCm39)	missense	possibly damaging	0.82
R5929:Car6	UTSW	4	150,280,592 (GRCm39)	missense	probably damaging	1.00
R9088:Car6	UTSW	4	150,281,806 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCCTTCCCTCTCAGTCTATAAGGG -3'
(R):5'- AGACTGTGTGGAGATGCCTG -3'

Sequencing Primer
(F):5'- TCTCAGTCTATAAGGGACCAGGC -3'
(R):5'- CAGAACCGATCGAATTGAC -3'

Posted On

2018-11-06