Mutagenetix > Incidental Mutations

Incidental Mutation 'R6275:Cyp2d12'

507601

Institutional Source

Beutler Lab

Gene Symbol

Cyp2d12

Ensembl Gene

ENSMUSG00000096852

Gene Name

cytochrome P450, family 2, subfamily d, polypeptide 12

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R6275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82555072-82560403 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 82556658 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 126 (P126T)

Ref Sequence

ENSEMBL: ENSMUSP00000071064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068861] [ENSMUST00000228974] [ENSMUST00000229103] [ENSMUST00000229904]

AlphaFold

Q8BVD2

Predicted Effect

probably benign
Transcript: ENSMUST00000068861
AA Change: P126T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000071064
Gene: ENSMUSG00000096852
AA Change: P126T

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC
Pfam:p450	37	497	3.6e-143	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184191

Predicted Effect

probably benign
Transcript: ENSMUST00000228974

Predicted Effect

probably benign
Transcript: ENSMUST00000229103

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229792

Predicted Effect

probably benign
Transcript: ENSMUST00000229904

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230859

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.4%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,285,368	D3936G	probably damaging	Het
Abca7	T	A	10: 79,997,791	L30H	probably damaging	Het
Abcb6	T	C	1: 75,172,551		probably null	Het
Acsbg1	T	A	9: 54,609,772	M586L	probably benign	Het
Ano6	A	T	15: 95,913,433	Y159F	probably damaging	Het
C1ql1	A	G	11: 102,939,749	I254T	probably damaging	Het
Ccdc81	T	C	7: 89,882,311	D318G	possibly damaging	Het
Ccr7	C	T	11: 99,145,663	M144I	probably damaging	Het
Cdca3	C	T	6: 124,832,664		probably null	Het
Ces1h	A	T	8: 93,372,646	L93I	probably benign	Het
Cntfr	T	C	4: 41,663,216	D197G	possibly damaging	Het
Dnah10	A	G	5: 124,785,184	T2225A	probably damaging	Het
Edrf1	A	T	7: 133,667,582	N1147Y	possibly damaging	Het
Ermap	C	T	4: 119,178,550	V414M	probably damaging	Het
Fam13a	A	G	6: 58,954,257	I446T	probably damaging	Het
Fgfbp3	T	C	19: 36,918,753	H155R	possibly damaging	Het
Folr1	T	A	7: 101,859,535	N61I	probably damaging	Het
Fsip1	T	C	2: 118,205,102	I431V	probably benign	Het
Gm5039	T	C	12: 88,321,225	D86G	possibly damaging	Het
Gm5493	A	T	17: 22,750,070	E74D	probably benign	Het
Gm6803	T	C	12: 88,018,485	N96S	probably benign	Het
H2-Oa	A	G	17: 34,094,566	D197G	probably benign	Het
Hps1	T	C	19: 42,769,607	E169G	probably null	Het
Il17rc	A	T	6: 113,480,347	M372L	probably benign	Het
Itga10	A	G	3: 96,658,185	S1042G	probably benign	Het
Jchain	A	T	5: 88,521,353	V147E	probably damaging	Het
Laptm4b	A	G	15: 34,283,327	T211A	probably benign	Het
Mal2	T	C	15: 54,571,639		probably null	Het
Mov10l1	T	A	15: 89,026,620	I1071N	probably damaging	Het
Mpp2	T	A	11: 102,060,969	Y401F	probably damaging	Het
Myh15	A	G	16: 49,145,247	T1172A	probably benign	Het
Olfr635	T	A	7: 103,979,974	S261T	probably damaging	Het
Pcnx	G	T	12: 81,918,607	S516I	probably benign	Het
Pidd1	C	T	7: 141,439,795	A685T	probably damaging	Het
Psg28	A	C	7: 18,430,440	Y116D	probably damaging	Het
Psmd11	T	C	11: 80,438,632		probably benign	Het
Rapgefl1	T	A	11: 98,851,120	Y637N	probably damaging	Het
Rbm25	T	A	12: 83,644,432	M66K	probably damaging	Het
Rnf38	T	A	4: 44,152,408	H52L	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGTGGCGGCGG	7: 97,579,923		probably benign	Het
Sec62	A	G	3: 30,809,836	Q89R	probably damaging	Het
Serpina6	T	A	12: 103,648,720	Q289L	probably benign	Het
Sf3b2	A	C	19: 5,283,650	I640S	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Slc26a11	T	C	11: 119,359,299	F127L	probably benign	Het
Stac3	T	A	10: 127,507,746	Y252*	probably null	Het
Stoml3	G	A	3: 53,507,506	A240T	probably damaging	Het
Tanc1	A	T	2: 59,843,510	H1653L	probably benign	Het
Tll1	A	T	8: 64,051,367	L665*	probably null	Het
Tnr	A	C	1: 159,861,270	Q434P	probably damaging	Het
Tpgs1	C	A	10: 79,675,520	D165E	probably benign	Het
Tsc2	A	G	17: 24,600,420	V1185A	probably benign	Het
Tulp4	A	G	17: 6,198,736	H203R	probably damaging	Het
Txnl4a	T	A	18: 80,218,765	M72K	possibly damaging	Het
Usp42	G	A	5: 143,714,972	R1099W	probably damaging	Het
Zfp292	G	A	4: 34,808,883	A1387V	possibly damaging	Het
Zfp994	A	T	17: 22,199,991	L659*	probably null	Het

Other mutations in Cyp2d12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01959:Cyp2d12	APN	15	82555344	splice site	probably benign
IGL02318:Cyp2d12	APN	15	82555243	missense	probably benign	0.33
IGL02353:Cyp2d12	APN	15	82558970	missense	probably benign	0.02
IGL02360:Cyp2d12	APN	15	82558970	missense	probably benign	0.02
IGL02491:Cyp2d12	APN	15	82558481	missense	possibly damaging	0.88
IGL02651:Cyp2d12	APN	15	82556740	missense	probably damaging	0.99
IGL02664:Cyp2d12	APN	15	82559334	missense	probably benign
IGL03169:Cyp2d12	APN	15	82559291	missense	probably benign	0.00
IGL03354:Cyp2d12	APN	15	82558961	missense	probably damaging	1.00
PIT4581001:Cyp2d12	UTSW	15	82558451	missense	probably damaging	1.00
R0426:Cyp2d12	UTSW	15	82558963	missense	probably benign	0.12
R0578:Cyp2d12	UTSW	15	82556383	splice site	probably benign
R1297:Cyp2d12	UTSW	15	82557686	missense	probably benign	0.31
R1517:Cyp2d12	UTSW	15	82558136	missense	probably damaging	1.00
R1718:Cyp2d12	UTSW	15	82558050	missense	probably benign	0.00
R1829:Cyp2d12	UTSW	15	82558056	missense	possibly damaging	0.87
R2208:Cyp2d12	UTSW	15	82556936	missense	probably damaging	1.00
R2366:Cyp2d12	UTSW	15	82555154	missense	probably damaging	1.00
R2385:Cyp2d12	UTSW	15	82558495	missense	probably benign	0.00
R2504:Cyp2d12	UTSW	15	82559036	missense	probably benign	0.06
R4009:Cyp2d12	UTSW	15	82556292	missense	probably damaging	1.00
R4940:Cyp2d12	UTSW	15	82558050	missense	probably benign	0.00
R5237:Cyp2d12	UTSW	15	82558006	splice site	probably null
R5327:Cyp2d12	UTSW	15	82555222	missense	probably benign	0.00
R5549:Cyp2d12	UTSW	15	82556297	missense	probably benign	0.23
R6128:Cyp2d12	UTSW	15	82558965	missense	probably benign
R6723:Cyp2d12	UTSW	15	82556884	missense	probably benign
R6808:Cyp2d12	UTSW	15	82556733	missense	probably damaging	1.00
R6947:Cyp2d12	UTSW	15	82559047	missense	probably benign
R7137:Cyp2d12	UTSW	15	82557821	missense	probably benign	0.42
R7224:Cyp2d12	UTSW	15	82557648	splice site	probably null
R7513:Cyp2d12	UTSW	15	82558420	missense	probably benign
R7698:Cyp2d12	UTSW	15	82558970	missense	probably benign	0.02
R7753:Cyp2d12	UTSW	15	82556963	missense	possibly damaging	0.68
R8465:Cyp2d12	UTSW	15	82555177	missense	possibly damaging	0.46
R8965:Cyp2d12	UTSW	15	82558985	missense	possibly damaging	0.87
R9031:Cyp2d12	UTSW	15	82559222	missense	probably null	0.02
R9286:Cyp2d12	UTSW	15	82559202	missense	probably damaging	1.00
R9296:Cyp2d12	UTSW	15	82556234	nonsense	probably null
X0065:Cyp2d12	UTSW	15	82557828	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGGTCAAGCAATTCACAGCAG -3'
(R):5'- CCTGGAAGTGGAGATTCAAGC -3'

Sequencing Primer
(F):5'- GTCAAGCAATTCACAGCAGAGTCAC -3'
(R):5'- GGACTGCCCATGTATCCCTGTG -3'

Posted On

2018-03-15