Mutagenetix > Incidental Mutation

Incidental Mutation 'R6936:Cyp2c70'

540321

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c70

Ensembl Gene

ENSMUSG00000060613

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 70

Synonyms

MMRRC Submission

045050-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R6936 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40141805-40175730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40156007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 181 (V181A)

Ref Sequence

ENSEMBL: ENSMUSP00000060584 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051846] [ENSMUST00000165102] [ENSMUST00000171604]

AlphaFold

Q91W64

Predicted Effect

probably damaging
Transcript: ENSMUST00000051846
AA Change: V181A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060584
Gene: ENSMUSG00000060613
AA Change: V181A

Domain	Start	End	E-Value	Type
Pfam:p450	30	486	2.1e-158	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165102

SMART Domains

Protein: ENSMUSP00000128691
Gene: ENSMUSG00000060613

Domain	Start	End	E-Value	Type
PDB:4GQS\|D	25	54	4e-12	PDB
SCOP:d1cpt__	26	54	7e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171604

SMART Domains

Protein: ENSMUSP00000129063
Gene: ENSMUSG00000060613

Domain	Start	End	E-Value	Type
PDB:4GQS\|D	25	50	4e-10	PDB
SCOP:d1cpt__	26	54	2e-7	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.7%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,248,568 (GRCm39)	I2772F	probably damaging	Het
Adam1a	A	G	5: 121,657,425 (GRCm39)	C623R	probably damaging	Het
Ak2	T	C	4: 128,893,005 (GRCm39)	S55P	probably damaging	Het
Ak4	C	T	4: 101,304,456 (GRCm39)	A82V	probably benign	Het
Arhgap10	A	T	8: 78,037,376 (GRCm39)	C617*	probably null	Het
Art1	A	T	7: 101,755,977 (GRCm39)	D56V	possibly damaging	Het
Ascc3	A	G	10: 50,606,057 (GRCm39)	D1392G	probably damaging	Het
Bbs5	T	C	2: 69,484,698 (GRCm39)	S123P	probably damaging	Het
Cabin1	A	T	10: 75,551,592 (GRCm39)		probably null	Het
Carmil3	G	A	14: 55,739,018 (GRCm39)	E891K	probably benign	Het
Cbfa2t3	C	G	8: 123,374,478 (GRCm39)	R89P	probably damaging	Het
Ccdc157	A	G	11: 4,094,030 (GRCm39)	S534P	probably benign	Het
Cep72	A	T	13: 74,188,206 (GRCm39)	I229N	probably damaging	Het
Cnn3	C	T	3: 121,243,702 (GRCm39)		probably benign	Het
Cyp2d26	C	T	15: 82,676,741 (GRCm39)	D202N	probably benign	Het
Dbh	A	G	2: 27,062,809 (GRCm39)	K343E	probably benign	Het
Dlx5	A	G	6: 6,879,585 (GRCm39)	Y161H	probably damaging	Het
Dnah5	A	T	15: 28,409,414 (GRCm39)	I3611F	probably damaging	Het
Egf	A	C	3: 129,474,853 (GRCm39)	F563V	possibly damaging	Het
Enpp1	T	C	10: 24,527,237 (GRCm39)	H650R	probably benign	Het
Exoc6	A	G	19: 37,560,311 (GRCm39)	I109M	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fgg	C	T	3: 82,915,727 (GRCm39)	S56F	possibly damaging	Het
Fras1	A	G	5: 96,916,211 (GRCm39)	D3415G	possibly damaging	Het
Ghsr	A	G	3: 27,426,474 (GRCm39)	I177V	probably benign	Het
Gm1979	A	T	5: 26,207,028 (GRCm39)	H62Q	probably benign	Het
Gpatch2	A	G	1: 186,965,433 (GRCm39)	D313G	probably benign	Het
Gtf2i	C	T	5: 134,271,639 (GRCm39)	E823K	probably damaging	Het
Hook2	C	A	8: 85,729,627 (GRCm39)	T689N	probably benign	Het
Hrnr	A	T	3: 93,239,667 (GRCm39)	N3302Y	unknown	Het
Igkv7-33	G	A	6: 70,035,785 (GRCm39)	P66S	possibly damaging	Het
Kcnh2	T	A	5: 24,529,337 (GRCm39)	I800F	probably damaging	Het
Mcmbp	G	A	7: 128,326,920 (GRCm39)	Q21*	probably null	Het
Mmp21	T	C	7: 133,280,704 (GRCm39)	K89E	probably benign	Het
Or4b13	A	G	2: 90,082,678 (GRCm39)	V218A	probably benign	Het
Or52r1c	A	T	7: 102,735,021 (GRCm39)	I94F	probably damaging	Het
Pcdhga4	A	G	18: 37,820,458 (GRCm39)	D669G	possibly damaging	Het
Ralgapa1	T	C	12: 55,832,997 (GRCm39)	T169A	probably damaging	Het
Sec31a	T	C	5: 100,540,369 (GRCm39)	N35S	probably benign	Het
Serpinb5	A	T	1: 106,798,148 (GRCm39)	T46S	probably benign	Het
Svs5	A	G	2: 164,079,548 (GRCm39)	S120P	possibly damaging	Het
Tbpl2	T	C	2: 23,984,953 (GRCm39)	T64A	probably benign	Het
Tecpr2	T	A	12: 110,911,297 (GRCm39)	H1111Q	possibly damaging	Het
Tm9sf3	A	G	19: 41,211,638 (GRCm39)	F402L	probably benign	Het
Tmem120b	T	G	5: 123,254,287 (GRCm39)	V287G	possibly damaging	Het
Tmem150c	T	C	5: 100,231,577 (GRCm39)	T133A	possibly damaging	Het
Ubqln3	A	T	7: 103,791,517 (GRCm39)	V191D	probably damaging	Het
Ubr2	T	C	17: 47,283,957 (GRCm39)	E564G	possibly damaging	Het
Zkscan1	T	C	5: 138,091,567 (GRCm39)	V100A	probably damaging	Het

Other mutations in Cyp2c70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Cyp2c70	APN	19	40,145,270 (GRCm39)	missense	probably benign	0.00
IGL00335:Cyp2c70	APN	19	40,156,020 (GRCm39)	missense	probably damaging	1.00
IGL01966:Cyp2c70	APN	19	40,142,016 (GRCm39)	utr 3 prime	probably benign
PIT4468001:Cyp2c70	UTSW	19	40,153,806 (GRCm39)	missense	probably damaging	1.00
R0012:Cyp2c70	UTSW	19	40,175,687 (GRCm39)	missense	probably null	1.00
R0044:Cyp2c70	UTSW	19	40,153,815 (GRCm39)	missense	possibly damaging	0.85
R0309:Cyp2c70	UTSW	19	40,149,115 (GRCm39)	missense	possibly damaging	0.94
R1572:Cyp2c70	UTSW	19	40,172,426 (GRCm39)	missense	probably benign	0.21
R1650:Cyp2c70	UTSW	19	40,153,921 (GRCm39)	missense	probably benign	0.00
R1671:Cyp2c70	UTSW	19	40,142,081 (GRCm39)	missense	probably damaging	1.00
R2016:Cyp2c70	UTSW	19	40,152,856 (GRCm39)	missense	possibly damaging	0.94
R2163:Cyp2c70	UTSW	19	40,149,163 (GRCm39)	missense	possibly damaging	0.64
R3425:Cyp2c70	UTSW	19	40,172,468 (GRCm39)	missense	probably damaging	1.00
R4299:Cyp2c70	UTSW	19	40,172,372 (GRCm39)	missense	probably benign	0.00
R5037:Cyp2c70	UTSW	19	40,172,441 (GRCm39)	missense	possibly damaging	0.72
R5103:Cyp2c70	UTSW	19	40,149,076 (GRCm39)	missense	probably damaging	0.96
R6060:Cyp2c70	UTSW	19	40,153,857 (GRCm39)	nonsense	probably null
R6440:Cyp2c70	UTSW	19	40,145,250 (GRCm39)	missense	possibly damaging	0.64
R6853:Cyp2c70	UTSW	19	40,172,364 (GRCm39)	missense	possibly damaging	0.72
R7098:Cyp2c70	UTSW	19	40,168,931 (GRCm39)	missense	probably benign	0.02
R8380:Cyp2c70	UTSW	19	40,175,669 (GRCm39)	missense	probably benign	0.03
R8419:Cyp2c70	UTSW	19	40,149,024 (GRCm39)	missense	possibly damaging	0.57
R8555:Cyp2c70	UTSW	19	40,172,345 (GRCm39)	missense	probably benign	0.04
R8678:Cyp2c70	UTSW	19	40,156,016 (GRCm39)	missense	probably damaging	1.00
R8705:Cyp2c70	UTSW	19	40,168,948 (GRCm39)	missense	probably benign	0.29
R8968:Cyp2c70	UTSW	19	40,142,059 (GRCm39)	missense	probably benign	0.26
R9225:Cyp2c70	UTSW	19	40,168,912 (GRCm39)	missense	probably damaging	0.99
R9468:Cyp2c70	UTSW	19	40,168,889 (GRCm39)	missense	probably damaging	0.97
R9655:Cyp2c70	UTSW	19	40,149,121 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ACACCCAGCAATTTAGTGGCC -3'
(R):5'- GCGGATGTCACAGAGATGATTC -3'

Sequencing Primer
(F):5'- AGAGGCTCCAAGTTCAGTTC -3'
(R):5'- GATGATTCTTCATTAGGTAGCTCAC -3'

Posted On

2018-11-06