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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6924 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150187015-150201332 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 150189256 bp (GRCm38)

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	H30P	probably damaging	Het
Abhd6	A	T	14: 8,049,850	H213L	possibly damaging	Het
Adam22	T	A	5: 8,367,322	N40I	possibly damaging	Het
Ankrd42	A	G	7: 92,582,016		probably benign	Het
Arhgap40	C	T	2: 158,527,146	R63C	probably benign	Het
Atf7ip	T	G	6: 136,559,757		probably null	Het
Atg7	T	C	6: 114,709,211		probably null	Het
Carmil1	A	T	13: 24,075,684	C302*	probably null	Het
Ccdc117	A	T	11: 5,534,255	M195K	probably benign	Het
Cep95	T	C	11: 106,811,197	M383T	probably damaging	Het
Col20a1	A	G	2: 180,996,850	E419G	probably damaging	Het
Cyp2d9	C	G	15: 82,455,212	R272G	probably damaging	Het
Dhx57	A	T	17: 80,238,815	M1380K	possibly damaging	Het
Dnah14	A	G	1: 181,627,952	S881G	probably benign	Het
Fam126a	T	C	5: 23,986,135		probably null	Het
Fcgbp	T	A	7: 28,093,823	I1084N	probably benign	Het
Fgf17	A	T	14: 70,641,541	C21*	probably null	Het
Gemin4	A	G	11: 76,212,336	L533P	probably damaging	Het
Gkn3	T	C	6: 87,388,802	R12G	probably benign	Het
Gpr161	G	T	1: 165,321,619	R519L	possibly damaging	Het
Grin2a	A	G	16: 9,663,228	V535A	possibly damaging	Het
Gys1	G	A	7: 45,443,635		probably null	Het
Hfm1	C	T	5: 106,850,410		probably null	Het
Hmcn2	T	A	2: 31,350,505		probably null	Het
Hnrnpul2	T	C	19: 8,831,509	Y738H	unknown	Het
Igsf23	A	G	7: 19,941,759	S141P	possibly damaging	Het
Lamc3	A	C	2: 31,938,069	M1423L	probably benign	Het
Lcmt2	T	C	2: 121,140,003	T200A	probably benign	Het
Lgr4	T	C	2: 110,012,439	V899A	probably damaging	Het
Macf1	T	A	4: 123,527,352	R36S	possibly damaging	Het
Mrgprb8	A	G	7: 48,389,123	K181E	possibly damaging	Het
Muc2	G	A	7: 141,697,834	V786M	possibly damaging	Het
Nacc2	T	C	2: 26,090,029	T132A	probably damaging	Het
Nsmce2	T	A	15: 59,378,925	I15K	probably damaging	Het
Olfr726	A	G	14: 50,083,850	I277T	possibly damaging	Het
Olfr9	T	G	10: 128,990,091	Y60D	probably damaging	Het
Otoa	A	T	7: 121,131,501		probably null	Het
Otogl	A	G	10: 107,808,641	I1248T	probably damaging	Het
Ppp1r17	T	A	6: 56,026,022	D32E	probably damaging	Het
Relt	A	C	7: 100,847,261	V427G	probably damaging	Het
Ric1	T	A	19: 29,569,388	V256D	probably damaging	Het
Samhd1	T	C	2: 157,109,483	T445A	probably benign	Het
Sepsecs	T	C	5: 52,664,304	I189V	probably benign	Het
Shroom3	T	A	5: 92,964,403	D1793E	probably damaging	Het
Sim1	C	T	10: 50,908,539	T137I	probably benign	Het
Stk17b	A	T	1: 53,761,059	D253E	possibly damaging	Het
Stmnd1	T	C	13: 46,299,493	V215A	probably benign	Het
Tcl1	A	G	12: 105,218,756	L65P	probably damaging	Het
Tiam2	A	C	17: 3,507,795	K1231N	probably damaging	Het
Tm9sf3	T	C	19: 41,218,278	Y476C	probably damaging	Het
Trim63	T	C	4: 134,321,261	S194P	probably damaging	Het
Ugt1a10	T	A	1: 88,055,657	I59N	probably damaging	Het
Vmn2r65	A	G	7: 84,963,990	F7S	probably benign	Het
Zfp775	T	A	6: 48,619,655	H154Q	probably damaging	Het
Zfp804b	C	T	5: 6,769,902	V1018I	probably benign	Het

Other mutations in Car6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Car6	APN	4	150198153	missense	probably benign	0.38
IGL02483:Car6	APN	4	150196129	missense	probably damaging	1.00
IGL03267:Car6	APN	4	150196046	splice site	probably benign
R0226:Car6	UTSW	4	150187508	missense	probably damaging	0.97
R0987:Car6	UTSW	4	150197343	missense	probably damaging	1.00
R1569:Car6	UTSW	4	150201042	missense	probably damaging	1.00
R1627:Car6	UTSW	4	150192578	missense	probably damaging	0.96
R2080:Car6	UTSW	4	150198141	missense	probably benign	0.01
R4812:Car6	UTSW	4	150197415	missense	probably damaging	0.96
R5902:Car6	UTSW	4	150187499	missense	possibly damaging	0.82
R5929:Car6	UTSW	4	150196135	missense	probably damaging	1.00
R9088:Car6	UTSW	4	150197349	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