Mutagenetix > Incidental Mutation

Incidental Mutation 'R3907:Car4'

310266

Institutional Source

Beutler Lab

Gene Symbol

Car4

Ensembl Gene

ENSMUSG00000000805

Gene Name

carbonic anhydrase 4

Synonyms

CA IV

MMRRC Submission

040908-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R3907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84848612-84856870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84855183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 141 (V141M)

Ref Sequence

ENSEMBL: ENSMUSP00000099483 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103194] [ENSMUST00000127827] [ENSMUST00000150596]

AlphaFold

Q64444

PDB Structure

MURINE CARBONIC ANHYDRASE IV [X-RAY DIFFRACTION]
MURINE CARBONIC ANHYDRASE IV COMPLEXED WITH BRINZOLAMIDE [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000103194
AA Change: V141M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099483
Gene: ENSMUSG00000000805
AA Change: V141M

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Carb_anhydrase	22	278	2.37e-103	SMART
low complexity region	283	299	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000108076
AA Change: V4M

SMART Domains

Protein: ENSMUSP00000103711
Gene: ENSMUSG00000000805
AA Change: V4M

Domain	Start	End	E-Value	Type
Carb_anhydrase	3	137	9.49e-7	SMART
low complexity region	142	158	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139416

Predicted Effect

probably benign
Transcript: ENSMUST00000150596

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

97% (56/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Carbonic anhydrases (CAs) 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. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are produced in lower than expected numbers, with females preferentially lost in the fetal or early postnatal period. Surviving homozygotes are healthy and fertile when crossed with wild-type partners; however, homozygous intercrosses yield small litters and pups do not survive. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	C	A	5: 90,009,214 (GRCm39)	G150C	probably damaging	Het
Ampd3	A	G	7: 110,392,877 (GRCm39)	D215G	possibly damaging	Het
Ank2	A	G	3: 126,810,547 (GRCm39)	L513P	probably damaging	Het
Apba1	T	C	19: 23,914,870 (GRCm39)	I690T	probably damaging	Het
Arid1a	T	C	4: 133,420,223 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Asns	C	T	6: 7,682,270 (GRCm39)		probably null	Het
Aspg	T	A	12: 112,078,693 (GRCm39)	Y57*	probably null	Het
Asph	T	C	4: 9,474,934 (GRCm39)	K680R	probably benign	Het
Atp2b4	A	T	1: 133,666,324 (GRCm39)	S243T	probably damaging	Het
Cacna1s	T	A	1: 136,012,007 (GRCm39)	M483K	probably damaging	Het
Cct4	A	G	11: 22,951,560 (GRCm39)	I376V	probably benign	Het
Chrm4	C	T	2: 91,758,084 (GRCm39)	A164V	probably damaging	Het
Csf3r	A	T	4: 125,928,240 (GRCm39)	D291V	probably benign	Het
Dcaf6	A	T	1: 165,251,949 (GRCm39)	C58*	probably null	Het
Ddi2	T	C	4: 141,411,592 (GRCm39)	D440G	probably benign	Het
Defb4	A	T	8: 19,251,277 (GRCm39)	Q48L	possibly damaging	Het
Dnaaf9	C	T	2: 130,578,496 (GRCm39)	A663T	probably damaging	Het
Duox2	C	T	2: 122,113,541 (GRCm39)		probably null	Het
E130308A19Rik	C	T	4: 59,752,393 (GRCm39)	T502I	probably benign	Het
Ephb1	A	G	9: 101,878,925 (GRCm39)	C522R	probably benign	Het
Fam76a	T	C	4: 132,643,432 (GRCm39)	K101E	probably damaging	Het
Fat1	G	C	8: 45,476,072 (GRCm39)	R1706T	probably benign	Het
Fn1	C	T	1: 71,647,072 (GRCm39)	G1482R	probably damaging	Het
Gm10110	T	C	14: 90,135,583 (GRCm39)		noncoding transcript	Het
Gphn	T	A	12: 78,540,716 (GRCm39)		probably benign	Het
Hars1	A	T	18: 36,915,769 (GRCm39)	D48E	probably benign	Het
Hmgcll1	G	A	9: 75,979,943 (GRCm39)	R111H	probably benign	Het
Ighv3-4	A	G	12: 114,217,538 (GRCm39)	S18P	probably damaging	Het
Iws1	G	A	18: 32,212,973 (GRCm39)	E134K	possibly damaging	Het
Kcnj4	G	T	15: 79,369,946 (GRCm39)	H11Q	probably benign	Het
Krt16	A	G	11: 100,137,989 (GRCm39)	V329A	possibly damaging	Het
Loxhd1	A	T	18: 77,496,464 (GRCm39)	M1575L	possibly damaging	Het
Mapkapk2	A	T	1: 130,984,651 (GRCm39)	S234T	probably damaging	Het
Mxd1	G	T	6: 86,627,942 (GRCm39)	Q199K	probably benign	Het
Nlrp5	T	A	7: 23,133,071 (GRCm39)	D905E	possibly damaging	Het
Or4c117	A	C	2: 88,955,927 (GRCm39)	Y49*	probably null	Het
Or6z7	A	T	7: 6,483,678 (GRCm39)	V159D	probably damaging	Het
Otoa	A	T	7: 120,724,788 (GRCm39)	Q489L	probably damaging	Het
Pced1b	T	C	15: 97,282,431 (GRCm39)	S157P	probably damaging	Het
Ppp1r16b	T	C	2: 158,603,410 (GRCm39)	I345T	probably benign	Het
Prrt4	G	T	6: 29,177,173 (GRCm39)	L199M	probably damaging	Het
Ptpn6	T	C	6: 124,702,239 (GRCm39)	D347G	possibly damaging	Het
Pwwp3a	T	C	10: 80,074,150 (GRCm39)	V401A	probably damaging	Het
Rcan1	A	G	16: 92,262,917 (GRCm39)		probably benign	Het
Rif1	C	T	2: 52,002,557 (GRCm39)	L2004F	probably benign	Het
Rnf185	A	G	11: 3,376,681 (GRCm39)		probably benign	Het
Shank2	C	T	7: 143,963,313 (GRCm39)	P307L	probably damaging	Het
Slc19a3	G	A	1: 82,992,534 (GRCm39)	R396C	possibly damaging	Het
Stn1	T	C	19: 47,496,262 (GRCm39)	D321G	probably damaging	Het
Taar7a	T	C	10: 23,868,457 (GRCm39)	Y308C	probably benign	Het
Tespa1	T	C	10: 130,192,666 (GRCm39)		probably benign	Het
Tmcc2	T	C	1: 132,288,376 (GRCm39)	D359G	probably damaging	Het
Trhde	C	T	10: 114,636,601 (GRCm39)	G202E	possibly damaging	Het
Trip12	T	C	1: 84,709,827 (GRCm39)	T469A	possibly damaging	Het
Trip4	A	G	9: 65,740,708 (GRCm39)	I533T	probably benign	Het
Tsc22d1	T	C	14: 76,653,983 (GRCm39)	I154T	probably damaging	Het
Ttn	C	A	2: 76,733,686 (GRCm39)		probably benign	Het
Ugt8a	T	C	3: 125,708,631 (GRCm39)	T160A	possibly damaging	Het
Usp54	A	T	14: 20,636,181 (GRCm39)	S288T	probably damaging	Het
Utrn	C	T	10: 12,585,926 (GRCm39)		probably benign	Het

Other mutations in Car4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Car4	APN	11	84,856,593 (GRCm39)	missense	probably damaging	1.00
IGL01121:Car4	APN	11	84,855,172 (GRCm39)	critical splice acceptor site	probably null
IGL01828:Car4	APN	11	84,855,571 (GRCm39)	missense	probably benign	0.19
IGL02340:Car4	APN	11	84,856,593 (GRCm39)	missense	probably damaging	1.00
IGL02351:Car4	APN	11	84,856,593 (GRCm39)	missense	probably damaging	1.00
IGL02353:Car4	APN	11	84,856,593 (GRCm39)	missense	probably damaging	1.00
IGL02358:Car4	APN	11	84,856,593 (GRCm39)	missense	probably damaging	1.00
IGL02360:Car4	APN	11	84,856,593 (GRCm39)	missense	probably damaging	1.00
PIT4802001:Car4	UTSW	11	84,855,231 (GRCm39)	missense	probably damaging	1.00
R0008:Car4	UTSW	11	84,854,237 (GRCm39)	unclassified	probably benign
R0501:Car4	UTSW	11	84,854,268 (GRCm39)	missense	probably benign	0.01
R2124:Car4	UTSW	11	84,854,911 (GRCm39)	splice site	probably benign
R5072:Car4	UTSW	11	84,854,193 (GRCm39)	missense	probably benign
R5268:Car4	UTSW	11	84,856,626 (GRCm39)	missense	probably benign	0.28
R5562:Car4	UTSW	11	84,854,924 (GRCm39)	missense	probably benign	0.05
R6508:Car4	UTSW	11	84,856,469 (GRCm39)	missense	possibly damaging	0.64
R7775:Car4	UTSW	11	84,856,449 (GRCm39)	missense	probably damaging	1.00
R8698:Car4	UTSW	11	84,855,009 (GRCm39)	missense	probably benign	0.20
R8956:Car4	UTSW	11	84,855,377 (GRCm39)	missense	probably null	1.00
R9334:Car4	UTSW	11	84,855,415 (GRCm39)	missense	probably benign	0.01
Z1177:Car4	UTSW	11	84,854,245 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ATGACAACGGTTCAGAGCACAG -3'
(R):5'- ATACTGGGCAGTGCTTCCAC -3'

Sequencing Primer
(F):5'- CACAGTATTGATGGGAGACACTTTGC -3'
(R):5'- GGGGCTACCTCAATCATA -3'

Posted On

2015-04-17