Mutagenetix > Incidental Mutation

Incidental Mutation 'R2105:Cyp2c67'

230925

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c67

Ensembl Gene

ENSMUSG00000062624

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 67

Synonyms

C730004C24Rik

MMRRC Submission

040109-MU

Accession Numbers

Essential gene?

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

Stock #

R2105 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39608842-39649051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39626237 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 282 (Y282C)

Ref Sequence

ENSEMBL: ENSMUSP00000065796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067328]

AlphaFold

Q569X9

Predicted Effect

probably benign
Transcript: ENSMUST00000067328
AA Change: Y282C

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000065796
Gene: ENSMUSG00000062624
AA Change: Y282C

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	487	8.5e-150	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,673,500 (GRCm38)	P1189L	probably benign	Het
Acbd4	G	A	11: 103,104,439 (GRCm38)	D57N	probably damaging	Het
Acot4	A	T	12: 84,038,742 (GRCm38)	M78L	probably damaging	Het
Ago1	A	T	4: 126,461,788 (GRCm38)	M76K	probably benign	Het
Agrn	G	T	4: 156,177,299 (GRCm38)	Y511*	probably null	Het
Arhgef15	A	T	11: 68,947,681 (GRCm38)		probably null	Het
Atp1a3	A	T	7: 24,989,853 (GRCm38)	M594K	probably damaging	Het
Atp4a	G	A	7: 30,720,368 (GRCm38)		probably null	Het
Bckdk	T	A	7: 127,907,317 (GRCm38)	I272N	probably damaging	Het
Bod1l	A	G	5: 41,832,279 (GRCm38)	V367A	probably benign	Het
C1galt1c1	T	C	X: 38,631,268 (GRCm38)	M284V	possibly damaging	Het
Cenpk	T	A	13: 104,229,597 (GRCm38)	C4*	probably null	Het
Cfap53	T	C	18: 74,283,223 (GRCm38)	V9A	possibly damaging	Het
Chil3	T	C	3: 106,160,478 (GRCm38)	I124V	possibly damaging	Het
Creld2	G	A	15: 88,820,631 (GRCm38)	W103*	probably null	Het
D5Ertd579e	C	T	5: 36,613,449 (GRCm38)	A1201T	probably benign	Het
Dock4	A	G	12: 40,692,989 (GRCm38)	H381R	probably benign	Het
Drc1	C	T	5: 30,356,441 (GRCm38)	S447F	probably benign	Het
Fam83g	G	T	11: 61,703,458 (GRCm38)	R606L	probably benign	Het
Fmnl1	A	C	11: 103,194,692 (GRCm38)	S688R	probably benign	Het
Fryl	C	T	5: 73,122,299 (GRCm38)	V219I	probably benign	Het
Gm13101	A	T	4: 143,965,820 (GRCm38)	Y204N	probably benign	Het
Golgb1	T	A	16: 36,914,664 (GRCm38)	N1424K	probably benign	Het
Gpr39	T	C	1: 125,677,884 (GRCm38)	V183A	possibly damaging	Het
H2-T22	A	T	17: 36,040,517 (GRCm38)	Y274N	probably benign	Het
Hif1a	T	A	12: 73,937,745 (GRCm38)	Y313N	probably damaging	Het
Hip1r	T	A	5: 124,000,204 (GRCm38)	M787K	probably damaging	Het
Hipk3	T	C	2: 104,439,392 (GRCm38)	E484G	probably damaging	Het
Hsh2d	T	A	8: 72,200,646 (GRCm38)	F291I	probably benign	Het
Ino80	T	C	2: 119,431,929 (GRCm38)	E692G	probably null	Het
Itgam	T	A	7: 128,081,712 (GRCm38)	V271D	probably damaging	Het
Kansl1	A	C	11: 104,335,559 (GRCm38)	I924S	probably damaging	Het
Kcnq2	A	G	2: 181,081,352 (GRCm38)	C628R	probably benign	Het
Krt78	A	C	15: 101,947,414 (GRCm38)	V654G	possibly damaging	Het
Lrit2	A	G	14: 37,071,956 (GRCm38)	T326A	probably damaging	Het
Ltk	T	C	2: 119,752,088 (GRCm38)	E710G	probably damaging	Het
Lysmd1	T	C	3: 95,134,974 (GRCm38)	L53S	probably damaging	Het
Mc4r	T	C	18: 66,859,598 (GRCm38)	Y148C	probably damaging	Het
Mfn2	G	A	4: 147,888,705 (GRCm38)	Q172*	probably null	Het
Mknk2	A	G	10: 80,668,601 (GRCm38)	L242P	possibly damaging	Het
Mrpl45	A	T	11: 97,325,747 (GRCm38)	H167L	probably benign	Het
Myc	T	C	15: 61,988,102 (GRCm38)	V208A	probably damaging	Het
Myh7b	A	G	2: 155,629,457 (GRCm38)	E1175G	probably benign	Het
Myo18a	A	T	11: 77,850,234 (GRCm38)	M1456L	probably benign	Het
Myocd	G	A	11: 65,218,658 (GRCm38)	Q96*	probably null	Het
Nckap5	T	A	1: 126,026,518 (GRCm38)	I766F	probably damaging	Het
Ndst1	T	C	18: 60,691,253 (GRCm38)	E784G	probably benign	Het
Nf1	A	T	11: 79,469,826 (GRCm38)	R1443S	possibly damaging	Het
Nhlrc3	A	G	3: 53,453,651 (GRCm38)	W228R	probably damaging	Het
Nup107	G	A	10: 117,773,320 (GRCm38)	T378I	probably damaging	Het
Olfr1033	C	T	2: 86,041,330 (GRCm38)	T5I	probably damaging	Het
Olfr1131	A	G	2: 87,628,939 (GRCm38)	T159A	probably benign	Het
Olfr293	A	T	7: 86,664,383 (GRCm38)	K240N	probably damaging	Het
Olfr524	T	A	7: 140,202,743 (GRCm38)	D9V	probably benign	Het
Olfr607	T	A	7: 103,460,273 (GRCm38)		probably null	Het
Olfr98	A	T	17: 37,263,073 (GRCm38)	M197K	probably benign	Het
Otop1	A	G	5: 38,300,458 (GRCm38)	D520G	probably benign	Het
Papln	C	T	12: 83,780,236 (GRCm38)	P712S	probably benign	Het
Pcbd2	T	A	13: 55,733,033 (GRCm38)	I34N	probably damaging	Het
Pkd1l3	T	A	8: 109,647,573 (GRCm38)	C29*	probably null	Het
Pou5f1	G	A	17: 35,510,002 (GRCm38)	V114M	probably benign	Het
Prpf4b	C	A	13: 34,884,231 (GRCm38)		probably benign	Het
Prr23a1	C	T	9: 98,842,656 (GRCm38)	P24S	probably damaging	Het
Ptch1	T	A	13: 63,545,245 (GRCm38)	M65L	probably benign	Het
Rc3h2	A	T	2: 37,399,624 (GRCm38)	I392K	possibly damaging	Het
Reck	G	T	4: 43,943,195 (GRCm38)	D916Y	probably damaging	Het
Rtf2	A	G	2: 172,445,365 (GRCm38)	D68G	probably damaging	Het
Ryr1	G	T	7: 29,090,150 (GRCm38)	T1513K	probably damaging	Het
Sacs	A	G	14: 61,173,441 (GRCm38)	D55G	possibly damaging	Het
Scn9a	A	G	2: 66,568,183 (GRCm38)	S28P	probably benign	Het
Scrn3	A	G	2: 73,329,852 (GRCm38)	M280V	probably damaging	Het
Snx29	C	T	16: 11,511,034 (GRCm38)	T559I	possibly damaging	Het
Spn	C	T	7: 127,136,241 (GRCm38)	E109K	probably damaging	Het
Sra1	C	T	18: 36,675,068 (GRCm38)	R369H	probably benign	Het
Srsf11	C	T	3: 158,019,345 (GRCm38)	A64T	probably damaging	Het
Stk17b	A	G	1: 53,776,605 (GRCm38)	S12P	probably benign	Het
Sult1d1	C	A	5: 87,559,802 (GRCm38)	G153V	probably damaging	Het
Sycp2	A	T	2: 178,350,138 (GRCm38)		probably null	Het
Tgfb3	T	C	12: 86,069,769 (GRCm38)	E165G	possibly damaging	Het
Tns2	C	A	15: 102,107,506 (GRCm38)	H160N	probably benign	Het
Ubn1	T	A	16: 5,077,224 (GRCm38)	C711*	probably null	Het
Usp13	A	T	3: 32,901,986 (GRCm38)	D469V	probably damaging	Het
Vmn1r231	A	T	17: 20,890,118 (GRCm38)	H178Q	possibly damaging	Het
Vwa1	A	G	4: 155,772,793 (GRCm38)	S183P	probably damaging	Het
Xpo7	A	G	14: 70,690,991 (GRCm38)	I424T	probably benign	Het
Zfp109	A	G	7: 24,236,616 (GRCm38)		probably null	Het

Other mutations in Cyp2c67

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Cyp2c67	APN	19	39,643,385 (GRCm38)	missense	possibly damaging	0.95
IGL01025:Cyp2c67	APN	19	39,639,932 (GRCm38)	nonsense	probably null
IGL01363:Cyp2c67	APN	19	39,639,967 (GRCm38)	missense	probably damaging	0.99
IGL01819:Cyp2c67	APN	19	39,615,721 (GRCm38)	missense	probably damaging	0.98
IGL01902:Cyp2c67	APN	19	39,649,026 (GRCm38)	missense	probably damaging	1.00
IGL02172:Cyp2c67	APN	19	39,649,002 (GRCm38)	missense	possibly damaging	0.76
IGL02351:Cyp2c67	APN	19	39,617,417 (GRCm38)	missense	probably damaging	1.00
IGL02355:Cyp2c67	APN	19	39,617,382 (GRCm38)	nonsense	probably null
IGL02355:Cyp2c67	APN	19	39,643,405 (GRCm38)	missense	probably benign	0.34
IGL02358:Cyp2c67	APN	19	39,617,417 (GRCm38)	missense	probably damaging	1.00
IGL02362:Cyp2c67	APN	19	39,617,382 (GRCm38)	nonsense	probably null
IGL02362:Cyp2c67	APN	19	39,643,405 (GRCm38)	missense	probably benign	0.34
IGL02388:Cyp2c67	APN	19	39,643,355 (GRCm38)	missense	probably benign	0.20
IGL03106:Cyp2c67	APN	19	39,643,675 (GRCm38)	missense	probably benign	0.27
IGL03219:Cyp2c67	APN	19	39,643,294 (GRCm38)	missense	possibly damaging	0.54
IGL03326:Cyp2c67	APN	19	39,643,269 (GRCm38)	critical splice donor site	probably null
IGL03349:Cyp2c67	APN	19	39,643,684 (GRCm38)	missense	probably damaging	1.00
IGL03356:Cyp2c67	APN	19	39,639,961 (GRCm38)	missense	probably damaging	1.00
IGL03052:Cyp2c67	UTSW	19	39,648,885 (GRCm38)	missense	possibly damaging	0.88
R0585:Cyp2c67	UTSW	19	39,638,694 (GRCm38)	missense	possibly damaging	0.59
R0975:Cyp2c67	UTSW	19	39,609,178 (GRCm38)	missense	possibly damaging	0.49
R0976:Cyp2c67	UTSW	19	39,643,374 (GRCm38)	missense	probably damaging	1.00
R1252:Cyp2c67	UTSW	19	39,626,141 (GRCm38)	missense	possibly damaging	0.93
R1398:Cyp2c67	UTSW	19	39,638,625 (GRCm38)	missense	probably damaging	0.96
R1411:Cyp2c67	UTSW	19	39,638,591 (GRCm38)	missense	probably damaging	1.00
R1505:Cyp2c67	UTSW	19	39,648,964 (GRCm38)	missense	probably benign	0.00
R1543:Cyp2c67	UTSW	19	39,643,264 (GRCm38)	splice site	probably benign
R1613:Cyp2c67	UTSW	19	39,626,199 (GRCm38)	missense	probably benign	0.00
R1618:Cyp2c67	UTSW	19	39,643,264 (GRCm38)	splice site	probably benign
R1667:Cyp2c67	UTSW	19	39,643,590 (GRCm38)	critical splice donor site	probably null
R1852:Cyp2c67	UTSW	19	39,617,367 (GRCm38)	missense	probably benign	0.01
R2005:Cyp2c67	UTSW	19	39,643,345 (GRCm38)	missense	probably damaging	1.00
R2181:Cyp2c67	UTSW	19	39,609,097 (GRCm38)	missense	possibly damaging	0.94
R3817:Cyp2c67	UTSW	19	39,638,683 (GRCm38)	missense	probably benign	0.00
R4669:Cyp2c67	UTSW	19	39,643,654 (GRCm38)	missense	probably benign	0.00
R4689:Cyp2c67	UTSW	19	39,638,588 (GRCm38)	missense	probably benign	0.00
R4756:Cyp2c67	UTSW	19	39,643,744 (GRCm38)	missense	probably benign	0.03
R4823:Cyp2c67	UTSW	19	39,615,724 (GRCm38)	missense	probably benign	0.13
R5152:Cyp2c67	UTSW	19	39,638,688 (GRCm38)	missense	probably benign	0.00
R5345:Cyp2c67	UTSW	19	39,626,232 (GRCm38)	missense	probably benign	0.01
R5580:Cyp2c67	UTSW	19	39,615,650 (GRCm38)	missense	probably damaging	0.99
R5644:Cyp2c67	UTSW	19	39,615,694 (GRCm38)	missense	possibly damaging	0.84
R6116:Cyp2c67	UTSW	19	39,617,435 (GRCm38)	missense	probably damaging	1.00
R6516:Cyp2c67	UTSW	19	39,617,429 (GRCm38)	missense	probably damaging	1.00
R6550:Cyp2c67	UTSW	19	39,617,410 (GRCm38)	nonsense	probably null
R6939:Cyp2c67	UTSW	19	39,643,334 (GRCm38)	missense	possibly damaging	0.68
R6995:Cyp2c67	UTSW	19	39,615,679 (GRCm38)	missense	probably damaging	0.96
R7028:Cyp2c67	UTSW	19	39,639,897 (GRCm38)	missense	possibly damaging	0.68
R7144:Cyp2c67	UTSW	19	39,615,694 (GRCm38)	missense	probably benign	0.00
R7242:Cyp2c67	UTSW	19	39,617,339 (GRCm38)	missense	probably benign	0.30
R7335:Cyp2c67	UTSW	19	39,640,007 (GRCm38)	nonsense	probably null
R7337:Cyp2c67	UTSW	19	39,609,264 (GRCm38)	splice site	probably null
R7474:Cyp2c67	UTSW	19	39,617,432 (GRCm38)	missense	probably null	0.05
R7642:Cyp2c67	UTSW	19	39,615,640 (GRCm38)	missense	probably damaging	0.97
R7870:Cyp2c67	UTSW	19	39,609,225 (GRCm38)	missense	probably damaging	1.00
R8152:Cyp2c67	UTSW	19	39,640,008 (GRCm38)	missense	probably benign	0.21
R8367:Cyp2c67	UTSW	19	39,638,674 (GRCm38)	missense	probably benign	0.01
R8717:Cyp2c67	UTSW	19	39,638,711 (GRCm38)	missense	probably benign	0.05
R8728:Cyp2c67	UTSW	19	39,626,161 (GRCm38)	missense	probably damaging	1.00
R9275:Cyp2c67	UTSW	19	39,609,255 (GRCm38)	missense	probably damaging	1.00
R9278:Cyp2c67	UTSW	19	39,609,255 (GRCm38)	missense	probably damaging	1.00
R9376:Cyp2c67	UTSW	19	39,638,734 (GRCm38)	missense	probably damaging	1.00
Z1177:Cyp2c67	UTSW	19	39,643,679 (GRCm38)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- ACAATCTGCATTGCCCTAGC -3'
(R):5'- CAGAATGCAATTTTGACAAACAGGG -3'

Sequencing Primer
(F):5'- GCCCTAGCAACTTTTATGAATGCTG -3'
(R):5'- TCTACACCACAGTCTCTGAAATGG -3'

Posted On

2014-09-18