Mutagenetix > Incidental Mutations

Incidental Mutation 'R7483:Car7'

579932

Institutional Source

Beutler Lab

Gene Symbol

Car7

Ensembl Gene

ENSMUSG00000031883

Gene Name

carbonic anhydrase 7

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7483 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104534689-104550343 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104549584 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 234 (T234S)

Ref Sequence

ENSEMBL: ENSMUSP00000052136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056051] [ENSMUST00000159416] [ENSMUST00000162761]

Predicted Effect

probably benign
Transcript: ENSMUST00000056051
AA Change: T234S

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000052136
Gene: ENSMUSG00000031883
AA Change: T234S

Domain	Start	End	E-Value	Type
Carb_anhydrase	7	262	7.17e-144	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159416
AA Change: T178S

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000125112
Gene: ENSMUSG00000031883
AA Change: T178S

Domain	Start	End	E-Value	Type
Carb_anhydrase	1	206	1.93e-94	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162761
AA Change: T178S

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000125404
Gene: ENSMUSG00000031883
AA Change: T178S

Domain	Start	End	E-Value	Type
Carb_anhydrase	1	206	1.93e-94	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.] Carbonic anhydrases are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. The cytosolic protein encoded by this gene is predominantly expressed in the salivary glands. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced and atypical experimental febrile seizures with the absence of electrographic seizures and abnormal GABA-mediated receptor currents. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	T	5: 121,656,012		probably null	Het
Ahnak	T	C	19: 9,004,822	S1157P	probably damaging	Het
Akap12	T	G	10: 4,353,967	V364G	probably benign	Het
Ankrd17	A	G	5: 90,299,996	S229P	probably benign	Het
Apof	A	T	10: 128,268,767	Y5F	probably benign	Het
Arhgap24	T	A	5: 102,841,308	M94K	probably benign	Het
Ash2l	G	T	8: 25,822,770	D479E	probably damaging	Het
Atp8a2	A	T	14: 60,008,375	C623S	probably benign	Het
Bmper	T	A	9: 23,483,942	N656K	probably benign	Het
Braf	T	C	6: 39,627,838	I619V	possibly damaging	Het
Brwd1	T	C	16: 96,056,173	R396G	probably damaging	Het
Catsper4	A	T	4: 134,218,241	V169E	probably damaging	Het
Cemip	T	G	7: 83,998,576	I99L	probably damaging	Het
Chrna7	C	A	7: 63,104,990	V290L	probably damaging	Het
Clip1	A	T	5: 123,617,384	D944E	probably benign	Het
Cyp2c68	T	C	19: 39,689,137	T470A	probably benign	Het
Dmbx1	G	T	4: 115,923,711	A31D	probably damaging	Het
Dnah7b	T	C	1: 46,175,419	F1115L	probably damaging	Het
Dock10	T	C	1: 80,515,566	I1897V	probably benign	Het
Efcab3	A	G	11: 105,109,286	I234V	probably benign	Het
Eid2b	T	G	7: 28,277,818	L13R	probably damaging	Het
Enam	A	G	5: 88,501,820	Y396C	probably damaging	Het
Fam161a	A	T	11: 23,021,006	T395S	probably damaging	Het
Fat1	A	G	8: 45,023,160	R1748G	probably benign	Het
Fdxacb1	C	A	9: 50,770,151	T124K	possibly damaging	Het
Fer1l6	A	T	15: 58,641,945	D1563V	possibly damaging	Het
Gm20834	T	C	Y: 10,323,226	H70R	probably damaging	Het
Gucy2d	T	A	7: 98,449,757	M261K	probably damaging	Het
Hcar2	T	A	5: 123,864,798	Q214L	probably benign	Het
Hdac11	C	T	6: 91,159,232	H75Y	probably damaging	Het
Hoxa2	C	A	6: 52,164,299	A116S	probably benign	Het
Ints2	A	G	11: 86,215,618	C989R	probably damaging	Het
Jpt1	T	C	11: 115,503,124	E36G	probably damaging	Het
Kdm5d	G	A	Y: 914,044	R327Q	possibly damaging	Het
Klhl1	T	C	14: 96,346,868	M309V	probably benign	Het
Larp4	A	G	15: 99,991,778	K193E	probably benign	Het
Lmo3	C	T	6: 138,416,502	C40Y	probably damaging	Het
Mcm4	A	G	16: 15,630,442	V417A	probably benign	Het
Med8	A	G	4: 118,410,979	E34G	probably damaging	Het
Mex3b	G	T	7: 82,867,906	A86S	possibly damaging	Het
Muc6	T	C	7: 141,639,823	T1646A	unknown	Het
Myo15b	A	T	11: 115,858,744	E113D		Het
Myo7a	T	A	7: 98,063,674	H1698L	probably benign	Het
Myocos	T	A	1: 162,657,109	M44L	unknown	Het
Nalcn	A	G	14: 123,314,087	V1036A	probably damaging	Het
Nfrkb	C	T	9: 31,414,032	Q924*	probably null	Het
Nol6	A	G	4: 41,117,424	L923P	possibly damaging	Het
Nrxn3	T	C	12: 89,510,462	Y472H	probably damaging	Het
Nudcd1	A	G	15: 44,405,857	Y136H	possibly damaging	Het
Obox2	T	C	7: 15,397,316	C116R	probably damaging	Het
Olfr1309	T	C	2: 111,983,779	I98M	probably damaging	Het
Olfr1333	A	G	4: 118,830,320	V39A	probably damaging	Het
Olfr715b	T	A	7: 107,106,775	I29F	probably benign	Het
Olfr743	T	A	14: 50,534,015	V201D	probably benign	Het
Onecut3	A	T	10: 80,495,476	S157C	unknown	Het
Oscp1	C	T	4: 126,073,933	R91*	probably null	Het
Pclo	A	T	5: 14,712,592	D408V		Het
Pde8a	T	C	7: 81,282,833	V81A	probably benign	Het
Pde8b	T	A	13: 95,027,743	D653V	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Pik3cg	T	C	12: 32,195,648	Y867C	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Psd4	A	T	2: 24,404,756	D776V	possibly damaging	Het
Ptprb	A	G	10: 116,283,429	E156G	probably benign	Het
Rad54b	A	G	4: 11,610,372	Y663C	probably damaging	Het
Ranbp3l	T	A	15: 9,002,132	V78D	possibly damaging	Het
Rbm12	T	C	2: 156,098,218	I45V	unknown	Het
Rsg1	A	G	4: 141,219,842	D178G	probably damaging	Het
Scn9a	A	G	2: 66,533,348	V862A	probably damaging	Het
Sdcbp	T	C	4: 6,393,089	I242T	possibly damaging	Het
Slc25a24	A	G	3: 109,159,435	T302A	probably damaging	Het
Slc45a3	G	T	1: 131,976,811		probably benign	Het
Srpk1	T	C	17: 28,594,218	I517M	probably benign	Het
Tmx4	A	G	2: 134,639,661	M114T	probably benign	Het
Trhr	T	A	15: 44,229,231	V288D	probably damaging	Het
Tspoap1	A	T	11: 87,761,525	I42F	probably benign	Het
Ttn	A	T	2: 76,951,512	D1063E	unknown	Het
Tusc3	A	G	8: 39,071,481	I225V	probably benign	Het
Ugt2b38	A	G	5: 87,424,114	S20P	probably damaging	Het
Upf2	A	G	2: 6,027,408	T922A	unknown	Het
Usp38	C	T	8: 81,014,561		probably benign	Het
Vmn1r216	A	G	13: 23,099,568	I140M	probably damaging	Het
Vmn2r115	T	A	17: 23,346,397	N419K	possibly damaging	Het
Vmn2r55	C	T	7: 12,670,828	G216D	probably benign	Het
Vwa8	A	C	14: 78,982,234		probably null	Het
Wnt7b	C	A	15: 85,537,414	R349L	possibly damaging	Het
Xbp1	T	C	11: 5,521,098	V35A	probably benign	Het
Zan	A	T	5: 137,446,795	M1734K	unknown	Het
Zfhx4	A	G	3: 5,412,177	E3284G	probably damaging	Het
Zfp458	A	G	13: 67,256,914	L487S	possibly damaging	Het
Zfp687	C	T	3: 95,007,530	R1220H	probably damaging	Het
Zp1	A	G	19: 10,917,916	L324P	possibly damaging	Het

Other mutations in Car7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01576:Car7	APN	8	104549548	splice site	probably null
IGL02306:Car7	APN	8	104548998	missense	probably damaging	1.00
IGL02936:Car7	APN	8	104548222	missense	possibly damaging	0.82
IGL03125:Car7	APN	8	104548219	missense	probably benign	0.00
R0409:Car7	UTSW	8	104548424	missense	probably damaging	1.00
R0485:Car7	UTSW	8	104543538	missense	probably benign	0.00
R1981:Car7	UTSW	8	104548377	splice site	probably benign
R2129:Car7	UTSW	8	104548973	missense	possibly damaging	0.91
R6964:Car7	UTSW	8	104543581	missense	possibly damaging	0.85
R7635:Car7	UTSW	8	104548437	missense	probably damaging	1.00
X0020:Car7	UTSW	8	104549003	missense	probably damaging	1.00
Z1176:Car7	UTSW	8	104548959	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GGATCAGAACCAGCCTTCTG -3'
(R):5'- AGCGAGCCTCAGATGGTTTG -3'

Sequencing Primer
(F):5'- CATGTTCAGGGGTTTGCACC -3'
(R):5'- AGCCTCAGATGGTTTGGTGTC -3'

Posted On

2019-10-07