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: 0.140) question?

Stock #

R0501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84957786-84966044 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84963442 bp (GRCm38)

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: 72,455,372	S415P	probably benign	Het
Adam19	C	T	11: 46,123,130	P316S	probably damaging	Het
Adamts2	A	G	11: 50,668,145	D229G	probably benign	Het
Adcy10	C	T	1: 165,510,390	P191L	probably damaging	Het
Adgrv1	T	C	13: 81,559,150	Y1379C	probably damaging	Het
Akap9	T	C	5: 3,970,685	L1132P	probably damaging	Het
Aoah	A	G	13: 21,005,073	T489A	probably benign	Het
Apc2	T	C	10: 80,315,124	L1975P	probably damaging	Het
Bpifa5	A	T	2: 154,163,696	D66V	probably benign	Het
C230029F24Rik	T	C	1: 49,335,470		noncoding transcript	Het
Cacna1h	A	T	17: 25,388,667	V892E	probably damaging	Het
Chst3	A	G	10: 60,186,227	L266P	probably damaging	Het
Ckap2l	G	A	2: 129,285,491	R256W	possibly damaging	Het
Cntn4	A	T	6: 106,618,335	D471V	probably damaging	Het
Cntrob	G	A	11: 69,322,868	S32F	probably damaging	Het
Cpne7	T	A	8: 123,126,255	N200K	possibly damaging	Het
Creb3l3	C	A	10: 81,086,582	M271I	probably benign	Het
Csmd1	T	A	8: 17,027,323	Q106L	probably damaging	Het
D7Ertd443e	G	A	7: 134,294,972	T563I	probably damaging	Het
Dmac1	T	G	4: 75,278,176	N26H	unknown	Het
Dopey2	T	C	16: 93,752,862	F230L	probably benign	Het
Dpp6	T	A	5: 27,725,606	I812N	probably damaging	Het
Fabp12	T	C	3: 10,250,143	D48G	probably benign	Het
Fbn1	G	A	2: 125,301,749	T2820M	probably benign	Het
Fcho1	C	T	8: 71,712,560	A418T	probably benign	Het
Fcho2	A	T	13: 98,764,515	S277R	possibly damaging	Het
Fmo2	A	G	1: 162,876,928	S470P	probably benign	Het
Gm17541	T	G	12: 4,689,730		probably benign	Het
Gm4353	A	T	7: 116,083,471	Y292N	probably benign	Het
Igkv4-71	A	T	6: 69,243,306	I69N	probably damaging	Het
Insrr	G	T	3: 87,810,684	A871S	probably benign	Het
Irs2	C	T	8: 11,006,396	V679M	probably damaging	Het
Itpr3	T	A	17: 27,107,289	H1344Q	probably benign	Het
Kcnma1	T	C	14: 23,311,716	M1074V	possibly damaging	Het
Kif1a	G	A	1: 93,056,245	R602W	probably damaging	Het
Kif21b	A	T	1: 136,163,099	D1215V	probably benign	Het
Maats1	C	G	16: 38,335,635	M75I	probably damaging	Het
Mapk13	G	A	17: 28,776,353	V183M	probably damaging	Het
Mbp	C	T	18: 82,575,197	S100F	probably damaging	Het
Mcm6	A	G	1: 128,355,636	I44T	probably benign	Het
Ncor1	T	A	11: 62,373,322	D418V	possibly damaging	Het
Nid2	T	A	14: 19,789,668		probably null	Het
Nolc1	T	C	19: 46,078,920	V80A	probably damaging	Het
Olfr1024	A	G	2: 85,905,004	F17L	probably damaging	Het
Olfr1121	A	T	2: 87,371,552	R7W	probably damaging	Het
Olfr1162	A	T	2: 88,050,471	I51N	probably damaging	Het
Olfr1240	T	C	2: 89,439,716	T188A	probably benign	Het
Olfr1338	C	A	4: 118,753,830	C238F	probably benign	Het
Olfr1508	T	A	14: 52,463,926	M1L	possibly damaging	Het
Olfr3	A	T	2: 36,812,480	L204*	probably null	Het
Olfr70	A	C	4: 43,697,079	C31W	probably damaging	Het
Olfr700	G	A	7: 106,805,811	S217F	probably damaging	Het
Olfr705	A	T	7: 106,714,603	M26K	probably benign	Het
Olfr713	A	T	7: 107,036,232	T26S	probably benign	Het
Olfr855	T	A	9: 19,584,618	I27N	probably damaging	Het
Pcgf3	T	A	5: 108,475,112	C38S	probably damaging	Het
Pdia4	A	T	6: 47,801,002	V352E	probably damaging	Het
Pik3c2a	C	A	7: 116,354,055	V1202L	probably damaging	Het
Rbm15	G	T	3: 107,332,530	A184E	possibly damaging	Het
Rsph3a	T	A	17: 7,979,120	L442*	probably null	Het
Scg2	G	C	1: 79,435,603	L468V	probably damaging	Het
Sdk1	A	T	5: 141,937,718	I365L	probably benign	Het
Setdb1	A	G	3: 95,338,829	V595A	probably benign	Het
Slc22a22	T	A	15: 57,249,650	T398S	probably benign	Het
Stk11	C	A	10: 80,126,285	P217Q	probably damaging	Het
Tes	G	A	6: 17,097,558	D222N	probably benign	Het
Tmem132e	T	A	11: 82,435,068	I206N	possibly damaging	Het
Tmem214	G	T	5: 30,872,532	R251L	probably damaging	Het
Tmem253	T	A	14: 52,018,579	I105N	probably damaging	Het
Toe1	A	G	4: 116,807,485	V12A	probably benign	Het
Top1	C	A	2: 160,714,159	H513N	probably damaging	Het
Tph1	G	T	7: 46,649,988	Y376*	probably null	Het
Trim45	T	A	3: 100,923,219	L103Q	probably damaging	Het
Ttc37	A	C	13: 76,147,806	M1063L	probably benign	Het
Ttn	T	A	2: 76,944,174		probably null	Het
Twnk	T	C	19: 45,007,746	V206A	probably damaging	Het
Ube2z	A	G	11: 96,050,288	S343P	probably damaging	Het
Vmn2r8	T	C	5: 108,803,183	D132G	probably benign	Het
Wdr20rt	A	T	12: 65,225,807	T15S	probably benign	Het
Wdr59	C	T	8: 111,458,947	R841Q	possibly damaging	Het
Wdtc1	A	G	4: 133,308,840	F130L	possibly damaging	Het
Wnk1	C	T	6: 119,962,803	R43Q	probably damaging	Het
Ythdf3	T	C	3: 16,205,072	L461P	probably damaging	Het
Zcchc2	T	G	1: 106,016,091	F462C	possibly damaging	Het

Other mutations in Car4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Car4	APN	11	84965767	missense	probably damaging	1.00
IGL01121:Car4	APN	11	84964346	critical splice acceptor site	probably null
IGL01828:Car4	APN	11	84964745	missense	probably benign	0.19
IGL02340:Car4	APN	11	84965767	missense	probably damaging	1.00
IGL02351:Car4	APN	11	84965767	missense	probably damaging	1.00
IGL02353:Car4	APN	11	84965767	missense	probably damaging	1.00
IGL02358:Car4	APN	11	84965767	missense	probably damaging	1.00
IGL02360:Car4	APN	11	84965767	missense	probably damaging	1.00
PIT4802001:Car4	UTSW	11	84964405	missense	probably damaging	1.00
R0008:Car4	UTSW	11	84963411	unclassified	probably benign
R2124:Car4	UTSW	11	84964085	splice site	probably benign
R3907:Car4	UTSW	11	84964357	missense	probably damaging	1.00
R5072:Car4	UTSW	11	84963367	missense	probably benign
R5268:Car4	UTSW	11	84965800	missense	probably benign	0.28
R5562:Car4	UTSW	11	84964098	missense	probably benign	0.05
R6508:Car4	UTSW	11	84965643	missense	possibly damaging	0.64
R7775:Car4	UTSW	11	84965623	missense	probably damaging	1.00
R8698:Car4	UTSW	11	84964183	missense	probably benign	0.20
R8956:Car4	UTSW	11	84964551	missense	probably null	1.00
R9334:Car4	UTSW	11	84964589	missense	probably benign	0.01
Z1177:Car4	UTSW	11	84963419	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