Mutagenetix > Incidental Mutation

Incidental Mutation 'R0501:Car4'

47145

Institutional Source

Beutler Lab

Gene Symbol

Car4

Ensembl Gene

ENSMUSG00000000805

Gene Name

carbonic anhydrase 4

Synonyms

CA IV

MMRRC Submission

038696-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R0501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84848612-84856870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84854268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 72 (V72I)

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 benign
Transcript: ENSMUST00000103194
AA Change: V72I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000099483
Gene: ENSMUSG00000000805
AA Change: V72I

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

probably benign
Transcript: ENSMUST00000108076

SMART Domains

Protein: ENSMUSP00000103711
Gene: ENSMUSG00000000805

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

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,209,216 (GRCm39)	S415P	probably benign	Het
Adam19	C	T	11: 46,013,957 (GRCm39)	P316S	probably damaging	Het
Adamts2	A	G	11: 50,558,972 (GRCm39)	D229G	probably benign	Het
Adcy10	C	T	1: 165,337,959 (GRCm39)	P191L	probably damaging	Het
Adgrv1	T	C	13: 81,707,269 (GRCm39)	Y1379C	probably damaging	Het
Akap9	T	C	5: 4,020,685 (GRCm39)	L1132P	probably damaging	Het
Aoah	A	G	13: 21,189,243 (GRCm39)	T489A	probably benign	Het
Apc2	T	C	10: 80,150,958 (GRCm39)	L1975P	probably damaging	Het
Bpifa5	A	T	2: 154,005,616 (GRCm39)	D66V	probably benign	Het
C230029F24Rik	T	C	1: 49,374,629 (GRCm39)		noncoding transcript	Het
Cacna1h	A	T	17: 25,607,641 (GRCm39)	V892E	probably damaging	Het
Cfap91	C	G	16: 38,155,997 (GRCm39)	M75I	probably damaging	Het
Chst3	A	G	10: 60,022,049 (GRCm39)	L266P	probably damaging	Het
Ckap2l	G	A	2: 129,127,411 (GRCm39)	R256W	possibly damaging	Het
Cntn4	A	T	6: 106,595,296 (GRCm39)	D471V	probably damaging	Het
Cntrob	G	A	11: 69,213,694 (GRCm39)	S32F	probably damaging	Het
Cpne7	T	A	8: 123,852,994 (GRCm39)	N200K	possibly damaging	Het
Creb3l3	C	A	10: 80,922,416 (GRCm39)	M271I	probably benign	Het
Csmd1	T	A	8: 17,077,339 (GRCm39)	Q106L	probably damaging	Het
D7Ertd443e	G	A	7: 133,896,701 (GRCm39)	T563I	probably damaging	Het
Dmac1	T	G	4: 75,196,413 (GRCm39)	N26H	unknown	Het
Dop1b	T	C	16: 93,549,750 (GRCm39)	F230L	probably benign	Het
Dpp6	T	A	5: 27,930,604 (GRCm39)	I812N	probably damaging	Het
Fabp12	T	C	3: 10,315,203 (GRCm39)	D48G	probably benign	Het
Fbn1	G	A	2: 125,143,669 (GRCm39)	T2820M	probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fcho2	A	T	13: 98,901,023 (GRCm39)	S277R	possibly damaging	Het
Fmo2	A	G	1: 162,704,497 (GRCm39)	S470P	probably benign	Het
Gm17541	T	G	12: 4,739,730 (GRCm39)		probably benign	Het
Gm4353	A	T	7: 115,682,706 (GRCm39)	Y292N	probably benign	Het
Igkv4-71	A	T	6: 69,220,290 (GRCm39)	I69N	probably damaging	Het
Insrr	G	T	3: 87,717,991 (GRCm39)	A871S	probably benign	Het
Irs2	C	T	8: 11,056,396 (GRCm39)	V679M	probably damaging	Het
Itpr3	T	A	17: 27,326,263 (GRCm39)	H1344Q	probably benign	Het
Kcnma1	T	C	14: 23,361,784 (GRCm39)	M1074V	possibly damaging	Het
Kif1a	G	A	1: 92,983,967 (GRCm39)	R602W	probably damaging	Het
Kif21b	A	T	1: 136,090,837 (GRCm39)	D1215V	probably benign	Het
Mapk13	G	A	17: 28,995,327 (GRCm39)	V183M	probably damaging	Het
Mbp	C	T	18: 82,593,322 (GRCm39)	S100F	probably damaging	Het
Mcm6	A	G	1: 128,283,373 (GRCm39)	I44T	probably benign	Het
Ncor1	T	A	11: 62,264,148 (GRCm39)	D418V	possibly damaging	Het
Nid2	T	A	14: 19,839,736 (GRCm39)		probably null	Het
Nolc1	T	C	19: 46,067,359 (GRCm39)	V80A	probably damaging	Het
Or10a5	A	T	7: 106,635,439 (GRCm39)	T26S	probably benign	Het
Or10ak14	C	A	4: 118,611,027 (GRCm39)	C238F	probably benign	Het
Or12e9	A	T	2: 87,201,896 (GRCm39)	R7W	probably damaging	Het
Or13e8	A	C	4: 43,697,079 (GRCm39)	C31W	probably damaging	Het
Or1j1	A	T	2: 36,702,492 (GRCm39)	L204*	probably null	Het
Or2ag1	A	T	7: 106,313,810 (GRCm39)	M26K	probably benign	Het
Or2ag18	G	A	7: 106,405,018 (GRCm39)	S217F	probably damaging	Het
Or4a68	T	C	2: 89,270,060 (GRCm39)	T188A	probably benign	Het
Or4e1	T	A	14: 52,701,383 (GRCm39)	M1L	possibly damaging	Het
Or5d14	A	T	2: 87,880,815 (GRCm39)	I51N	probably damaging	Het
Or5m12	A	G	2: 85,735,348 (GRCm39)	F17L	probably damaging	Het
Or7g35	T	A	9: 19,495,914 (GRCm39)	I27N	probably damaging	Het
Pcgf3	T	A	5: 108,622,978 (GRCm39)	C38S	probably damaging	Het
Pdia4	A	T	6: 47,777,936 (GRCm39)	V352E	probably damaging	Het
Pik3c2a	C	A	7: 115,953,290 (GRCm39)	V1202L	probably damaging	Het
Rbm15	G	T	3: 107,239,846 (GRCm39)	A184E	possibly damaging	Het
Rsph3a	T	A	17: 8,197,952 (GRCm39)	L442*	probably null	Het
Scg2	G	C	1: 79,413,320 (GRCm39)	L468V	probably damaging	Het
Sdk1	A	T	5: 141,923,473 (GRCm39)	I365L	probably benign	Het
Setdb1	A	G	3: 95,246,140 (GRCm39)	V595A	probably benign	Het
Skic3	A	C	13: 76,295,925 (GRCm39)	M1063L	probably benign	Het
Slc22a22	T	A	15: 57,113,046 (GRCm39)	T398S	probably benign	Het
Stk11	C	A	10: 79,962,119 (GRCm39)	P217Q	probably damaging	Het
Tes	G	A	6: 17,097,557 (GRCm39)	D222N	probably benign	Het
Tmem132e	T	A	11: 82,325,894 (GRCm39)	I206N	possibly damaging	Het
Tmem214	G	T	5: 31,029,876 (GRCm39)	R251L	probably damaging	Het
Tmem253	T	A	14: 52,256,036 (GRCm39)	I105N	probably damaging	Het
Toe1	A	G	4: 116,664,682 (GRCm39)	V12A	probably benign	Het
Top1	C	A	2: 160,556,079 (GRCm39)	H513N	probably damaging	Het
Tph1	G	T	7: 46,299,412 (GRCm39)	Y376*	probably null	Het
Trim45	T	A	3: 100,830,535 (GRCm39)	L103Q	probably damaging	Het
Ttn	T	A	2: 76,774,518 (GRCm39)		probably null	Het
Twnk	T	C	19: 44,996,185 (GRCm39)	V206A	probably damaging	Het
Ube2z	A	G	11: 95,941,114 (GRCm39)	S343P	probably damaging	Het
Vmn2r8	T	C	5: 108,951,049 (GRCm39)	D132G	probably benign	Het
Wdr20rt	A	T	12: 65,272,581 (GRCm39)	T15S	probably benign	Het
Wdr59	C	T	8: 112,185,579 (GRCm39)	R841Q	possibly damaging	Het
Wdtc1	A	G	4: 133,036,151 (GRCm39)	F130L	possibly damaging	Het
Wnk1	C	T	6: 119,939,764 (GRCm39)	R43Q	probably damaging	Het
Ythdf3	T	C	3: 16,259,236 (GRCm39)	L461P	probably damaging	Het
Zcchc2	T	G	1: 105,943,821 (GRCm39)	F462C	possibly damaging	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
R2124:Car4	UTSW	11	84,854,911 (GRCm39)	splice site	probably benign
R3907:Car4	UTSW	11	84,855,183 (GRCm39)	missense	probably damaging	1.00
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'- CACAACAATGGGTCAATGTGCTCTG -3'
(R):5'- TGCTCCTACTCACGGTTCAACAAAC -3'

Sequencing Primer
(F):5'- AATGTGCTCTGGACTCTCAGAC -3'
(R):5'- CCCTACTGTTCTGATGAAATGACTG -3'

Posted On

2013-06-12