Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4618001:Cyp2a12'

555697

Institutional Source

Beutler Lab

Gene Symbol

Cyp2a12

Ensembl Gene

ENSMUSG00000060407

Gene Name

cytochrome P450, family 2, subfamily a, polypeptide 12

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

PIT4618001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27029081-27037375 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 27034773 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 377 (S377Y)

Ref Sequence

ENSEMBL: ENSMUSP00000074990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075552]

AlphaFold

P56593

Predicted Effect

probably benign
Transcript: ENSMUST00000075552
AA Change: S377Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000074990
Gene: ENSMUSG00000060407
AA Change: S377Y

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:p450	33	489	7.3e-153	PFAM

Coding Region Coverage

1x: 93.4%
3x: 91.0%
10x: 85.9%
20x: 75.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	T	5: 107,545,709	D64V	probably damaging	Het
Ankdd1a	A	C	9: 65,507,650	I268S	possibly damaging	Het
Atad3a	C	T	4: 155,750,138	R402Q	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Cd55	C	T	1: 130,456,869	V206I	probably benign	Het
Cd8a	A	G	6: 71,373,677	D42G	possibly damaging	Het
Cemip	G	T	7: 83,943,939	F1185L	probably benign	Het
Cfap58	A	G	19: 47,975,514	D527G	probably damaging	Het
Dapk2	A	G	9: 66,268,686	D289G	probably benign	Het
Efcab6	G	A	15: 83,983,446	A277V	probably benign	Het
Ephx2	A	T	14: 66,102,222	F250L	probably damaging	Het
Flg2	A	T	3: 93,203,781	S1039C	unknown	Het
Gm609	A	G	16: 45,443,934	F87S	probably benign	Het
Gramd1a	A	G	7: 31,132,596	V674A	probably benign	Het
Gtf2a1	A	C	12: 91,567,769	V237G	probably benign	Het
I830077J02Rik	G	A	3: 105,926,570	T90M	probably damaging	Het
Jagn1	T	A	6: 113,447,437	L90H	probably damaging	Het
Mdn1	G	T	4: 32,746,527	A4158S	probably benign	Het
Myh11	G	A	16: 14,201,066	A1839V		Het
Olr1	G	A	6: 129,499,906	A132V	probably damaging	Het
Paqr3	A	T	5: 97,103,471	H131Q	possibly damaging	Het
Pde4b	A	T	4: 102,602,812	T397S	probably benign	Het
Pon1	A	G	6: 5,168,349	C353R	probably damaging	Het
Ppie	G	A	4: 123,138,868	T43I	probably null	Het
Prr5l	A	G	2: 101,758,530	F92L	probably damaging	Het
Rai14	T	C	15: 10,575,156	Y601C	probably damaging	Het
Rasal1	A	G	5: 120,670,376	D491G	probably damaging	Het
Rbm12b1	T	A	4: 12,145,441	V471E	probably damaging	Het
Rpusd2	T	C	2: 119,038,452	L452P	possibly damaging	Het
Scgb2b24	A	T	7: 33,738,611	C24S	probably damaging	Het
Slc17a5	C	T	9: 78,538,248	V468M	possibly damaging	Het
Tcp10c	A	G	17: 13,356,510	K117R	possibly damaging	Het
Ubash3b	A	G	9: 41,016,627	S584P	probably benign	Het
Vps13b	C	T	15: 35,709,240	R1778C	probably damaging	Het
Ythdc2	A	G	18: 44,834,598	I220M	probably benign	Het
Zfp474	C	A	18: 52,638,404	T43K	probably damaging	Het
Zscan4-ps3	G	A	7: 11,613,334	M432I	probably benign	Het

Other mutations in Cyp2a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02191:Cyp2a12	APN	7	27036611	missense	probably benign	0.00
IGL02306:Cyp2a12	APN	7	27032583	missense	probably damaging	1.00
IGL02667:Cyp2a12	APN	7	27031158	missense	probably damaging	1.00
IGL02943:Cyp2a12	APN	7	27032542	missense	probably benign	0.07
IGL03025:Cyp2a12	APN	7	27031206	missense	probably benign	0.00
IGL03230:Cyp2a12	APN	7	27029592	missense	possibly damaging	0.48
PIT4243001:Cyp2a12	UTSW	7	27034773	missense	probably benign	0.00
R0655:Cyp2a12	UTSW	7	27036621	missense	probably benign	0.15
R0659:Cyp2a12	UTSW	7	27034138	missense	probably damaging	1.00
R0743:Cyp2a12	UTSW	7	27032542	missense	probably benign	0.07
R0884:Cyp2a12	UTSW	7	27032542	missense	probably benign	0.07
R2118:Cyp2a12	UTSW	7	27036646	makesense	probably null
R2119:Cyp2a12	UTSW	7	27036646	makesense	probably null
R2120:Cyp2a12	UTSW	7	27036646	makesense	probably null
R2121:Cyp2a12	UTSW	7	27036646	makesense	probably null
R2122:Cyp2a12	UTSW	7	27036646	makesense	probably null
R2124:Cyp2a12	UTSW	7	27036646	makesense	probably null
R2144:Cyp2a12	UTSW	7	27034769	missense	possibly damaging	0.95
R2153:Cyp2a12	UTSW	7	27032617	missense	probably benign	0.01
R2171:Cyp2a12	UTSW	7	27029632	missense	probably damaging	1.00
R2182:Cyp2a12	UTSW	7	27031146	missense	probably damaging	1.00
R2297:Cyp2a12	UTSW	7	27034632	missense	possibly damaging	0.92
R4392:Cyp2a12	UTSW	7	27029275	missense	probably damaging	0.98
R4900:Cyp2a12	UTSW	7	27031215	nonsense	probably null
R4960:Cyp2a12	UTSW	7	27034150	missense	probably benign	0.11
R5111:Cyp2a12	UTSW	7	27036621	missense	possibly damaging	0.89
R5143:Cyp2a12	UTSW	7	27036611	missense	probably benign	0.00
R5223:Cyp2a12	UTSW	7	27036463	critical splice acceptor site	probably null
R5268:Cyp2a12	UTSW	7	27031218	missense	probably benign	0.00
R5493:Cyp2a12	UTSW	7	27029125	missense	unknown
R5524:Cyp2a12	UTSW	7	27031231	missense	probably benign	0.00
R5806:Cyp2a12	UTSW	7	27029079	splice site	probably null
R6320:Cyp2a12	UTSW	7	27031152	missense	possibly damaging	0.75
R6823:Cyp2a12	UTSW	7	27034156	missense	possibly damaging	0.77
R7958:Cyp2a12	UTSW	7	27029252	missense	probably benign	0.13
R8093:Cyp2a12	UTSW	7	27036629	missense	probably damaging	0.96
R8191:Cyp2a12	UTSW	7	27031104	missense	probably benign	0.00
R8259:Cyp2a12	UTSW	7	27032658	nonsense	probably null
R9083:Cyp2a12	UTSW	7	27036519	missense	probably damaging	0.99
R9084:Cyp2a12	UTSW	7	27036519	missense	probably damaging	0.99
R9085:Cyp2a12	UTSW	7	27036519	missense	probably damaging	0.99
R9086:Cyp2a12	UTSW	7	27036519	missense	probably damaging	0.99
RF021:Cyp2a12	UTSW	7	27035360	missense	possibly damaging	0.73
Z1088:Cyp2a12	UTSW	7	27035420	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- TTGTCTTCCAGCCAAGGTCC -3'
(R):5'- TTGGAGTTCAAAGCAATGAGAC -3'

Sequencing Primer
(F):5'- TCTTCCAGCCAAGGTCCATGAG -3'
(R):5'- GTTGGAGACATGTGGATAAATCTCC -3'

Posted On

2019-06-07