Mutagenetix > Incidental Mutation

Incidental Mutation 'R6102:Cyp4v3'

485312

Institutional Source

Beutler Lab

Gene Symbol

Cyp4v3

Ensembl Gene

ENSMUSG00000079057

Gene Name

cytochrome P450, family 4, subfamily v, polypeptide 3

Synonyms

MMRRC Submission

044252-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6102 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45304944-45333216 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45320160 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 202 (E202V)

Ref Sequence

ENSEMBL: ENSMUSP00000092966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095328]

AlphaFold

Q9DBW0

Predicted Effect

probably damaging
Transcript: ENSMUST00000095328
AA Change: E202V

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

SMART Domains

Protein: ENSMUSP00000092966
Gene: ENSMUSG00000079057
AA Change: E202V

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:p450	51	517	2.7e-123	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

97% (65/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit corneoretinal crystal accumulation and systemic dyslipidemia characteristic of Bietti Crystalline Dystrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	A	G	11: 70,320,023 (GRCm38)	I290T	possibly damaging	Het
Apeh	T	A	9: 108,086,439 (GRCm38)	D559V	probably damaging	Het
Aspm	T	A	1: 139,477,459 (GRCm38)	Y1361*	probably null	Het
Atad5	G	T	11: 80,111,572 (GRCm38)		probably null	Het
Ccr4	C	T	9: 114,496,493 (GRCm38)		probably null	Het
Clasrp	G	A	7: 19,586,468 (GRCm38)		probably benign	Het
Cldn23	A	G	8: 35,825,551 (GRCm38)	M261T	probably benign	Het
Cmya5	T	C	13: 93,094,231 (GRCm38)	M1450V	probably benign	Het
Dnah7a	A	T	1: 53,559,140 (GRCm38)	V1412E	probably benign	Het
Dnah9	A	G	11: 65,990,516 (GRCm38)	S2578P	probably damaging	Het
Dsc2	T	A	18: 20,047,108 (GRCm38)	Y196F	probably benign	Het
Exoc1	T	C	5: 76,537,779 (GRCm38)	S113P	probably damaging	Het
Fbxo6	A	T	4: 148,149,522 (GRCm38)	I39N	probably damaging	Het
Frs3	C	T	17: 47,702,671 (GRCm38)	H173Y	probably damaging	Het
Ginm1	G	T	10: 7,768,496 (GRCm38)	T323K	probably benign	Het
Golgb1	T	C	16: 36,912,865 (GRCm38)	S825P	probably damaging	Het
Hs3st3b1	A	T	11: 63,921,855 (GRCm38)	C11*	probably null	Het
Ighv3-3	G	C	12: 114,196,460 (GRCm38)	A110G	possibly damaging	Het
Igkv6-20	G	A	6: 70,335,869 (GRCm38)	H107Y	probably benign	Het
Kcnj16	A	G	11: 111,025,577 (GRCm38)	E355G	probably benign	Het
Lig4	C	T	8: 9,972,872 (GRCm38)	G303S	probably damaging	Het
Map1b	A	C	13: 99,425,873 (GRCm38)	V2443G	unknown	Het
Map3k6	T	C	4: 133,247,131 (GRCm38)		probably null	Het
Mmp13	A	G	9: 7,276,688 (GRCm38)	Q261R	probably benign	Het
Mphosph9	T	A	5: 124,297,709 (GRCm38)	I554F	possibly damaging	Het
Mrgpra3	A	T	7: 47,590,149 (GRCm38)	F10I	possibly damaging	Het
Ms4a18	G	A	19: 11,013,523 (GRCm38)	T69I	probably benign	Het
Mtmr3	T	C	11: 4,487,673 (GRCm38)	N927S	probably damaging	Het
Necab1	T	A	4: 14,989,211 (GRCm38)	Q188L	probably benign	Het
Nfatc2	A	G	2: 168,519,507 (GRCm38)		probably benign	Het
Olfr152	T	C	2: 87,782,848 (GRCm38)	F103L	probably damaging	Het
Olfr495	T	C	7: 108,395,284 (GRCm38)	S55P	probably damaging	Het
Olfr854	T	C	9: 19,567,022 (GRCm38)	M121V	possibly damaging	Het
Paip2b	A	C	6: 83,808,846 (GRCm38)	V134G	possibly damaging	Het
Pax3	T	C	1: 78,132,347 (GRCm38)	T225A	probably damaging	Het
Pbx1	C	A	1: 168,183,565 (GRCm38)	A298S	probably benign	Het
Pcdhac2	A	T	18: 37,146,282 (GRCm38)	K772*	probably null	Het
Pcsk4	A	T	10: 80,325,817 (GRCm38)	Y163*	probably null	Het
Plcd3	A	G	11: 103,080,644 (GRCm38)	V58A	probably damaging	Het
Plek2	T	A	12: 78,900,093 (GRCm38)	T57S	possibly damaging	Het
Plscr2	C	T	9: 92,287,668 (GRCm38)	T57I	probably benign	Het
Ppp2r5b	A	G	19: 6,234,738 (GRCm38)	S32P	probably benign	Het
Ppp3r2	C	T	4: 49,682,022 (GRCm38)		probably benign	Het
Psme4	T	A	11: 30,865,567 (GRCm38)	L1693H	probably damaging	Het
Rrbp1	T	A	2: 143,988,393 (GRCm38)	Q618L	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904 (GRCm38)		probably benign	Het
Rsrc1	C	T	3: 66,994,649 (GRCm38)	P44L	unknown	Het
Serpina3b	A	T	12: 104,134,169 (GRCm38)	T337S	probably benign	Het
Slc18a2	T	C	19: 59,293,878 (GRCm38)	Y506H	probably benign	Het
Slc9a9	A	G	9: 94,936,429 (GRCm38)	Y292C	probably benign	Het
Spta1	T	C	1: 174,224,520 (GRCm38)	V1840A	probably benign	Het
Ssb	T	C	2: 69,871,208 (GRCm38)	*416Q	probably null	Het
Strada	A	G	11: 106,168,436 (GRCm38)	V209A	probably benign	Het
Tbc1d31	A	T	15: 57,936,093 (GRCm38)	D225V	probably damaging	Het
Tgm4	T	C	9: 123,056,535 (GRCm38)	F381L	probably benign	Het
Tmem120b	T	A	5: 123,115,144 (GRCm38)	Y203N	probably damaging	Het
Tmem176b	A	G	6: 48,835,934 (GRCm38)	V109A	probably benign	Het
Tnfrsf11a	C	A	1: 105,819,946 (GRCm38)	L201M	possibly damaging	Het
Ttn	C	A	2: 76,974,350 (GRCm38)		probably null	Het
Tubb2a	T	C	13: 34,075,343 (GRCm38)	I155V	probably benign	Het
Vmn1r5	A	G	6: 56,986,114 (GRCm38)	D258G	probably damaging	Het
Vmn2r121	T	C	X: 124,133,575 (GRCm38)	T120A	probably benign	Het
Vmn2r19	A	T	6: 123,329,948 (GRCm38)	I472F	probably damaging	Het
Vwa3a	A	G	7: 120,776,138 (GRCm38)		probably null	Het
Zfp273	A	G	13: 67,822,347 (GRCm38)	Y5C	probably damaging	Het
Zfp647	G	A	15: 76,912,085 (GRCm38)	P125L	probably damaging	Het
Zfp825	A	G	13: 74,480,653 (GRCm38)	L248P	probably damaging	Het

Other mutations in Cyp4v3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Cyp4v3	APN	8	45,307,003 (GRCm38)	missense	probably benign	0.04
IGL00503:Cyp4v3	APN	8	45,307,021 (GRCm38)	missense	probably damaging	0.98
IGL00757:Cyp4v3	APN	8	45,320,615 (GRCm38)	missense	probably damaging	0.98
IGL02375:Cyp4v3	APN	8	45,308,374 (GRCm38)	splice site	probably null
IGL02565:Cyp4v3	APN	8	45,320,637 (GRCm38)	missense	possibly damaging	0.63
IGL02881:Cyp4v3	APN	8	45,308,716 (GRCm38)	missense	probably damaging	1.00
R0745:Cyp4v3	UTSW	8	45,308,651 (GRCm38)	unclassified	probably benign
R1818:Cyp4v3	UTSW	8	45,315,636 (GRCm38)	missense	possibly damaging	0.77
R1819:Cyp4v3	UTSW	8	45,315,636 (GRCm38)	missense	possibly damaging	0.77
R1902:Cyp4v3	UTSW	8	45,306,952 (GRCm38)	missense	probably benign	0.00
R2426:Cyp4v3	UTSW	8	45,317,776 (GRCm38)	missense	probably benign
R3747:Cyp4v3	UTSW	8	45,315,708 (GRCm38)	nonsense	probably null
R3748:Cyp4v3	UTSW	8	45,315,708 (GRCm38)	nonsense	probably null
R3750:Cyp4v3	UTSW	8	45,315,708 (GRCm38)	nonsense	probably null
R4289:Cyp4v3	UTSW	8	45,328,223 (GRCm38)	missense	possibly damaging	0.46
R4569:Cyp4v3	UTSW	8	45,306,992 (GRCm38)	missense	probably damaging	1.00
R4960:Cyp4v3	UTSW	8	45,320,637 (GRCm38)	missense	possibly damaging	0.63
R5260:Cyp4v3	UTSW	8	45,306,980 (GRCm38)	missense	probably damaging	1.00
R5479:Cyp4v3	UTSW	8	45,310,206 (GRCm38)	missense	probably benign	0.00
R5667:Cyp4v3	UTSW	8	45,308,535 (GRCm38)	missense	possibly damaging	0.94
R5940:Cyp4v3	UTSW	8	45,321,784 (GRCm38)	missense	probably damaging	1.00
R6470:Cyp4v3	UTSW	8	45,317,736 (GRCm38)	nonsense	probably null
R6592:Cyp4v3	UTSW	8	45,306,981 (GRCm38)	missense	probably benign	0.02
R6700:Cyp4v3	UTSW	8	45,307,093 (GRCm38)	missense	probably damaging	1.00
R7027:Cyp4v3	UTSW	8	45,310,252 (GRCm38)	missense	possibly damaging	0.93
R7341:Cyp4v3	UTSW	8	45,321,750 (GRCm38)	missense	probably benign	0.01
R7966:Cyp4v3	UTSW	8	45,332,917 (GRCm38)	missense	probably benign	0.44
R8331:Cyp4v3	UTSW	8	45,315,708 (GRCm38)	nonsense	probably null
R8886:Cyp4v3	UTSW	8	45,321,748 (GRCm38)	nonsense	probably null
R8955:Cyp4v3	UTSW	8	45,308,527 (GRCm38)	missense	probably benign	0.00
R8957:Cyp4v3	UTSW	8	45,306,981 (GRCm38)	missense	probably benign	0.02
R9718:Cyp4v3	UTSW	8	45,320,666 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTTGACACATGTTCTGAGCTG -3'
(R):5'- CCTTGCCTGAAAGGTCAAAGG -3'

Sequencing Primer
(F):5'- TTCACTTCAAGCACGATGAAATAGC -3'
(R):5'- CCTGAAAGGTCAAAGGGGAAAG -3'

Posted On

2017-08-16