Mutagenetix > Incidental Mutation

Incidental Mutation 'R4940:Cyp2d12'

383041

Institutional Source

Beutler Lab

Gene Symbol

Cyp2d12

Ensembl Gene

ENSMUSG00000096852

Gene Name

cytochrome P450, family 2, subfamily d, polypeptide 12

Synonyms

9030605E09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R4940 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82439244-82443614 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82442251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 244 (D244E)

Ref Sequence

ENSEMBL: ENSMUSP00000154856 (fasta)

Gene Model

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

AlphaFold

Q8BVD2

Predicted Effect

probably benign
Transcript: ENSMUST00000068861
AA Change: D295E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071064
Gene: ENSMUSG00000096852
AA Change: D295E

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: ENSMUST00000229418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229792

Predicted Effect

probably benign
Transcript: ENSMUST00000229904
AA Change: D244E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230859

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,828,782 (GRCm39)	T240A	probably benign	Het
Abca15	T	C	7: 119,931,917 (GRCm39)	Y57H	probably benign	Het
Adgrf4	A	G	17: 42,977,420 (GRCm39)	I641T	possibly damaging	Het
Ankrd11	A	G	8: 123,616,560 (GRCm39)	Y2410H	probably damaging	Het
Apbb2	C	A	5: 66,609,604 (GRCm39)	L14F	probably null	Het
Arhgdia	T	C	11: 120,470,061 (GRCm39)	D204G	probably damaging	Het
Armh4	A	T	14: 50,010,939 (GRCm39)	M256K	probably benign	Het
Catsperd	A	T	17: 56,969,736 (GRCm39)	Y610F	possibly damaging	Het
Cblb	T	A	16: 51,853,466 (GRCm39)	D27E	probably damaging	Het
Ccdc180	A	T	4: 45,917,453 (GRCm39)	I893F	probably damaging	Het
Ccdc180	A	G	4: 45,917,508 (GRCm39)	H911R	probably damaging	Het
Cdh23	T	A	10: 60,143,714 (GRCm39)	I2966F	probably damaging	Het
Cfap299	A	G	5: 98,885,495 (GRCm39)	H134R	possibly damaging	Het
Chat	G	A	14: 32,141,062 (GRCm39)	P445L	probably damaging	Het
Chdh	G	T	14: 29,754,809 (GRCm39)	R273L	possibly damaging	Het
Clic3	T	C	2: 25,347,929 (GRCm39)	V72A	probably benign	Het
Ddr1	T	A	17: 36,001,022 (GRCm39)	D241V	probably damaging	Het
Dock7	T	A	4: 98,908,314 (GRCm39)	K605N	probably damaging	Het
Dsg2	T	A	18: 20,712,487 (GRCm39)	F164I	probably damaging	Het
Dstyk	T	A	1: 132,380,844 (GRCm39)	N446K	probably damaging	Het
Epb42	A	T	2: 120,864,932 (GRCm39)	L53Q	probably damaging	Het
Extl2	G	C	3: 115,820,841 (GRCm39)	K229N	probably benign	Het
Frmd4b	T	A	6: 97,275,051 (GRCm39)	S617C	probably damaging	Het
Fscb	C	T	12: 64,520,588 (GRCm39)	V293I	probably benign	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gm4978	A	C	9: 69,358,154 (GRCm39)		probably benign	Het
Gm6729	A	G	10: 86,376,252 (GRCm39)		noncoding transcript	Het
Gnat2	A	C	3: 108,007,932 (GRCm39)	N293T	probably benign	Het
Herpud1	T	C	8: 95,117,470 (GRCm39)	I142T	probably benign	Het
Irak2	G	A	6: 113,670,691 (GRCm39)	V536I	probably benign	Het
Kcnu1	A	T	8: 26,387,890 (GRCm39)		probably null	Het
Kdm4a	A	G	4: 118,018,951 (GRCm39)	S422P	probably benign	Het
Lair1	T	A	7: 4,031,948 (GRCm39)	D53V	probably benign	Het
Lhx1	G	T	11: 84,410,735 (GRCm39)	Y196*	probably null	Het
Lrrc37a	G	A	11: 103,388,438 (GRCm39)	T2329I	unknown	Het
Mag	T	C	7: 30,608,625 (GRCm39)	D163G	probably damaging	Het
Magi3	A	G	3: 103,958,708 (GRCm39)	V459A	probably damaging	Het
Med13	A	G	11: 86,178,944 (GRCm39)	Y1451H	probably damaging	Het
Megf8	T	A	7: 25,060,131 (GRCm39)	C2341S	probably damaging	Het
Mppe1	A	G	18: 67,361,095 (GRCm39)	C221R	probably damaging	Het
Mtus1	T	A	8: 41,494,515 (GRCm39)	H39L	possibly damaging	Het
Nkpd1	C	T	7: 19,257,498 (GRCm39)	Q276*	probably null	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Nutm2	T	C	13: 50,628,909 (GRCm39)	C658R	possibly damaging	Het
Olfm1	T	C	2: 28,112,602 (GRCm39)	V239A	possibly damaging	Het
Pcnx1	C	T	12: 81,964,567 (GRCm39)	H245Y	possibly damaging	Het
Pgm3	A	G	9: 86,441,529 (GRCm39)	L356S	probably damaging	Het
Pik3r4	C	G	9: 105,546,193 (GRCm39)	H207D	probably benign	Het
Pkd1l1	T	C	11: 8,794,585 (GRCm39)	T1859A	probably benign	Het
Pon3	A	T	6: 5,221,625 (GRCm39)	V335E	possibly damaging	Het
Ppp4r3b	A	G	11: 29,161,740 (GRCm39)	T705A	probably benign	Het
Prmt7	T	C	8: 106,963,910 (GRCm39)	V268A	probably benign	Het
Psd	C	T	19: 46,310,856 (GRCm39)	G398R	probably damaging	Het
Pygl	A	G	12: 70,253,155 (GRCm39)	V188A	probably damaging	Het
Rnf13	T	A	3: 57,703,627 (GRCm39)	N110K	probably damaging	Het
Rnf170	C	T	8: 26,615,939 (GRCm39)	Q77*	probably null	Het
Rrp8	A	T	7: 105,383,284 (GRCm39)	Y327*	probably null	Het
Ruvbl2	T	C	7: 45,074,150 (GRCm39)	D228G	probably damaging	Het
Scgn	T	A	13: 24,173,807 (GRCm39)	T35S	probably benign	Het
Scyl3	C	T	1: 163,762,316 (GRCm39)	P74S	probably damaging	Het
Sec61b	T	G	4: 47,483,074 (GRCm39)	S123A	probably benign	Het
Sertad2	T	C	11: 20,597,899 (GRCm39)	S32P	possibly damaging	Het
Slc23a3	T	C	1: 75,110,447 (GRCm39)		probably null	Het
Sult2a2	T	G	7: 13,472,223 (GRCm39)	V140G	probably benign	Het
Tbc1d4	A	T	14: 101,744,667 (GRCm39)	S320T	probably benign	Het
Trabd2b	T	C	4: 114,266,141 (GRCm39)	Y52H	probably damaging	Het
Traf2	T	C	2: 25,420,300 (GRCm39)	E183G	probably null	Het
Trip10	G	T	17: 57,570,017 (GRCm39)	V561F	possibly damaging	Het
Ttc7	G	T	17: 87,614,386 (GRCm39)	V184F	probably benign	Het
Ubc	A	G	5: 125,463,293 (GRCm39)	V678A	probably benign	Het
Unk	A	G	11: 115,944,491 (GRCm39)	E414G	possibly damaging	Het
Usp42	T	C	5: 143,705,517 (GRCm39)	N365D	probably damaging	Het
Zbtb26	A	T	2: 37,326,781 (GRCm39)	I85K	probably damaging	Het
Zfhx2	A	T	14: 55,303,891 (GRCm39)	H1364Q	possibly damaging	Het

Other mutations in Cyp2d12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01959:Cyp2d12	APN	15	82,439,545 (GRCm39)	splice site	probably benign
IGL02318:Cyp2d12	APN	15	82,439,444 (GRCm39)	missense	probably benign	0.33
IGL02353:Cyp2d12	APN	15	82,443,171 (GRCm39)	missense	probably benign	0.02
IGL02360:Cyp2d12	APN	15	82,443,171 (GRCm39)	missense	probably benign	0.02
IGL02491:Cyp2d12	APN	15	82,442,682 (GRCm39)	missense	possibly damaging	0.88
IGL02651:Cyp2d12	APN	15	82,440,941 (GRCm39)	missense	probably damaging	0.99
IGL02664:Cyp2d12	APN	15	82,443,535 (GRCm39)	missense	probably benign
IGL03169:Cyp2d12	APN	15	82,443,492 (GRCm39)	missense	probably benign	0.00
IGL03354:Cyp2d12	APN	15	82,443,162 (GRCm39)	missense	probably damaging	1.00
PIT4581001:Cyp2d12	UTSW	15	82,442,652 (GRCm39)	missense	probably damaging	1.00
R0426:Cyp2d12	UTSW	15	82,443,164 (GRCm39)	missense	probably benign	0.12
R0578:Cyp2d12	UTSW	15	82,440,584 (GRCm39)	splice site	probably benign
R1297:Cyp2d12	UTSW	15	82,441,887 (GRCm39)	missense	probably benign	0.31
R1517:Cyp2d12	UTSW	15	82,442,337 (GRCm39)	missense	probably damaging	1.00
R1718:Cyp2d12	UTSW	15	82,442,251 (GRCm39)	missense	probably benign	0.00
R1829:Cyp2d12	UTSW	15	82,442,257 (GRCm39)	missense	possibly damaging	0.87
R2208:Cyp2d12	UTSW	15	82,441,137 (GRCm39)	missense	probably damaging	1.00
R2366:Cyp2d12	UTSW	15	82,439,355 (GRCm39)	missense	probably damaging	1.00
R2385:Cyp2d12	UTSW	15	82,442,696 (GRCm39)	missense	probably benign	0.00
R2504:Cyp2d12	UTSW	15	82,443,237 (GRCm39)	missense	probably benign	0.06
R4009:Cyp2d12	UTSW	15	82,440,493 (GRCm39)	missense	probably damaging	1.00
R5237:Cyp2d12	UTSW	15	82,442,207 (GRCm39)	splice site	probably null
R5327:Cyp2d12	UTSW	15	82,439,423 (GRCm39)	missense	probably benign	0.00
R5549:Cyp2d12	UTSW	15	82,440,498 (GRCm39)	missense	probably benign	0.23
R6128:Cyp2d12	UTSW	15	82,443,166 (GRCm39)	missense	probably benign
R6275:Cyp2d12	UTSW	15	82,440,859 (GRCm39)	missense	probably benign	0.00
R6723:Cyp2d12	UTSW	15	82,441,085 (GRCm39)	missense	probably benign
R6808:Cyp2d12	UTSW	15	82,440,934 (GRCm39)	missense	probably damaging	1.00
R6947:Cyp2d12	UTSW	15	82,443,248 (GRCm39)	missense	probably benign
R7137:Cyp2d12	UTSW	15	82,442,022 (GRCm39)	missense	probably benign	0.42
R7224:Cyp2d12	UTSW	15	82,441,849 (GRCm39)	splice site	probably null
R7513:Cyp2d12	UTSW	15	82,442,621 (GRCm39)	missense	probably benign
R7698:Cyp2d12	UTSW	15	82,443,171 (GRCm39)	missense	probably benign	0.02
R7753:Cyp2d12	UTSW	15	82,441,164 (GRCm39)	missense	possibly damaging	0.68
R8465:Cyp2d12	UTSW	15	82,439,378 (GRCm39)	missense	possibly damaging	0.46
R8965:Cyp2d12	UTSW	15	82,443,186 (GRCm39)	missense	possibly damaging	0.87
R9031:Cyp2d12	UTSW	15	82,443,423 (GRCm39)	missense	probably null	0.02
R9286:Cyp2d12	UTSW	15	82,443,403 (GRCm39)	missense	probably damaging	1.00
R9296:Cyp2d12	UTSW	15	82,440,435 (GRCm39)	nonsense	probably null
X0065:Cyp2d12	UTSW	15	82,442,029 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ATGTCCTATGAGCTGTGAGGCC -3'
(R):5'- GGCCATGTCAGAAACACCAG -3'

Sequencing Primer
(F):5'- CCTATGAGCTGTGAGGCCAGATG -3'
(R):5'- GGTAGCACTGGTAGCCACAATC -3'

Posted On

2016-04-27