Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02318:Cyp2d12'

288099

Institutional Source

Australian Phenomics Network (link to record)

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: 0.101) question?

Stock #

IGL02318

Quality Score

Status

Chromosome

Chromosomal Location

82439244-82443614 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82439444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 33 (T33A)

Ref Sequence

ENSEMBL: ENSMUSP00000154885 (fasta)

Gene Model

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

AlphaFold

Q8BVD2

Predicted Effect

probably benign
Transcript: ENSMUST00000068861
AA Change: T33A

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

SMART Domains

Protein: ENSMUSP00000071064
Gene: ENSMUSG00000096852
AA Change: T33A

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
AA Change: T33A

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000229103

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229792

Predicted Effect

probably benign
Transcript: ENSMUST00000229904
AA Change: T33A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230859

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	G	5: 138,561,838 (GRCm39)	F116S	probably damaging	Het
Abhd18	G	A	3: 40,884,662 (GRCm39)		probably null	Het
Akr1c6	G	T	13: 4,488,496 (GRCm39)	C34F	probably benign	Het
Ankef1	T	A	2: 136,386,695 (GRCm39)	I180N	possibly damaging	Het
Ap1b1	G	A	11: 4,969,294 (GRCm39)	V217I	probably benign	Het
Arhgap27	T	C	11: 103,223,989 (GRCm39)	Q608R	probably benign	Het
Arhgap32	A	G	9: 32,170,627 (GRCm39)	T1136A	probably benign	Het
Ascc3	T	A	10: 50,604,250 (GRCm39)	Y1323*	probably null	Het
Bsx	A	C	9: 40,785,517 (GRCm39)	Q15P	probably benign	Het
Cdh20	A	G	1: 104,881,764 (GRCm39)	I410V	probably null	Het
Cfhr4	T	A	1: 139,708,835 (GRCm39)	E24D	probably benign	Het
Col20a1	A	G	2: 180,648,952 (GRCm39)	D945G	probably damaging	Het
Cox20	A	G	1: 178,150,043 (GRCm39)		probably null	Het
Cplane1	A	G	15: 8,204,509 (GRCm39)	K96E	probably damaging	Het
Cpne9	A	G	6: 113,270,699 (GRCm39)	D305G	possibly damaging	Het
Dvl3	A	G	16: 20,342,493 (GRCm39)	R149G	possibly damaging	Het
Dysf	A	G	6: 84,163,446 (GRCm39)	I1624V	possibly damaging	Het
Echs1	A	T	7: 139,691,623 (GRCm39)	L167Q	probably damaging	Het
Ect2	A	T	3: 27,192,868 (GRCm39)	N358K	probably benign	Het
Eml4	A	G	17: 83,748,795 (GRCm39)	I230V	probably benign	Het
Fut10	A	G	8: 31,726,286 (GRCm39)	Y347C	probably damaging	Het
Gfm2	C	A	13: 97,299,483 (GRCm39)	N401K	probably damaging	Het
Gm4795	C	T	10: 44,882,735 (GRCm39)		noncoding transcript	Het
Gm5592	C	A	7: 40,936,212 (GRCm39)	T238N	probably benign	Het
Gm9892	T	C	8: 52,649,260 (GRCm39)		noncoding transcript	Het
Greb1l	G	T	18: 10,469,388 (GRCm39)	M134I	possibly damaging	Het
Grk3	A	G	5: 113,085,669 (GRCm39)	Y314H	probably damaging	Het
Hrh2	T	C	13: 54,368,669 (GRCm39)	I215T	probably damaging	Het
Ilkap	A	G	1: 91,312,960 (GRCm39)		probably null	Het
Inpp4a	T	C	1: 37,407,384 (GRCm39)	Y233H	probably damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Lmo7	C	T	14: 102,137,502 (GRCm39)		probably benign	Het
Luc7l3	C	T	11: 94,183,819 (GRCm39)	R440Q	probably benign	Het
Mis18bp1	A	C	12: 65,205,515 (GRCm39)	I219S	probably benign	Het
Myo9b	G	A	8: 71,806,768 (GRCm39)	E1581K	probably damaging	Het
Nfs1	T	A	2: 155,966,191 (GRCm39)	Q458L	probably damaging	Het
Numb	A	T	12: 83,878,692 (GRCm39)		probably null	Het
Nxf1	G	A	19: 8,741,514 (GRCm39)		probably null	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or52z1	A	G	7: 103,437,475 (GRCm39)	V3A	probably benign	Het
Pacc1	A	G	1: 191,080,605 (GRCm39)	E275G	possibly damaging	Het
Pde2a	A	T	7: 101,152,550 (GRCm39)	Y371F	possibly damaging	Het
Phlpp2	G	T	8: 110,666,505 (GRCm39)	L1011F	probably benign	Het
Potefam3e	T	C	8: 19,797,815 (GRCm39)		probably null	Het
Prss27	G	T	17: 24,264,571 (GRCm39)	V245L	probably benign	Het
Rbm7	T	C	9: 48,405,411 (GRCm39)	N56S	probably damaging	Het
Rftn1	T	C	17: 50,343,998 (GRCm39)	I97V	possibly damaging	Het
Ric3	T	C	7: 108,647,287 (GRCm39)	T178A	probably damaging	Het
Rock1	A	G	18: 10,104,323 (GRCm39)		probably benign	Het
Sall2	T	C	14: 52,553,022 (GRCm39)	T56A	probably damaging	Het
Sgk1	T	C	10: 21,871,440 (GRCm39)	S60P	probably damaging	Het
Smarcad1	G	A	6: 65,050,223 (GRCm39)	A281T	probably damaging	Het
Spta1	A	G	1: 174,002,029 (GRCm39)	H53R	possibly damaging	Het
Thbs4	T	C	13: 92,900,092 (GRCm39)	D468G	probably damaging	Het
Tmem108	A	T	9: 103,376,981 (GRCm39)	V156E	probably benign	Het
Tnfaip3	T	G	10: 18,880,215 (GRCm39)	R617S	probably benign	Het
Traf3	A	G	12: 111,204,031 (GRCm39)	M7V	probably benign	Het
Ubr3	T	A	2: 69,809,741 (GRCm39)	I1237N	probably damaging	Het
Vmn2r23	T	C	6: 123,718,795 (GRCm39)	V716A	probably benign	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
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
R4940:Cyp2d12	UTSW	15	82,442,251 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-04-16