Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01871:Cyp2d10'

178698

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2d10

Ensembl Gene

ENSMUSG00000094806

Gene Name

cytochrome P450, family 2, subfamily d, polypeptide 10

Synonyms

Cyp2d, P450-2D

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL01871

Quality Score

Status

Chromosome

Chromosomal Location

82402846-82407195 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82403885 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 180 (D180V)

Ref Sequence

ENSEMBL: ENSMUSP00000155572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072776] [ENSMUST00000229628] [ENSMUST00000229911] [ENSMUST00000230198] [ENSMUST00000230248] [ENSMUST00000230843]

AlphaFold

P24456

Predicted Effect

probably damaging
Transcript: ENSMUST00000072776
AA Change: D339V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072555
Gene: ENSMUSG00000094806
AA Change: D339V

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
Pfam:p450	37	497	6e-143	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102440

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183705

Predicted Effect

probably benign
Transcript: ENSMUST00000229628

Predicted Effect

probably benign
Transcript: ENSMUST00000229911

Predicted Effect

probably damaging
Transcript: ENSMUST00000230198
AA Change: D339V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000230248
AA Change: D128V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230843
AA Change: D180V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,472,394		probably null	Het
Aqp7	G	A	4: 41,045,321	R20*	probably null	Het
Asxl2	G	T	12: 3,502,112	V1285L	probably benign	Het
Bdp1	A	T	13: 100,066,053	S688T	probably benign	Het
Cc2d2a	A	T	5: 43,688,969	I357F	probably damaging	Het
Clasp1	A	T	1: 118,570,889	I884F	probably damaging	Het
Cpne4	T	G	9: 104,925,757	M200R	possibly damaging	Het
Dicer1	A	T	12: 104,704,180	V1042D	probably damaging	Het
Dlc1	G	A	8: 36,850,180	T447I	probably damaging	Het
Efl1	T	C	7: 82,763,319	M972T	possibly damaging	Het
Erbin	A	G	13: 103,834,766	S781P	probably damaging	Het
Fam46b	A	G	4: 133,486,309	I164V	possibly damaging	Het
Galnt4	G	A	10: 99,109,241	G276D	probably damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gmppa	A	G	1: 75,437,017	I41V	probably damaging	Het
Golga1	C	T	2: 39,050,198		probably benign	Het
H2-Ob	G	T	17: 34,242,545	W86L	probably damaging	Het
Hnrnpr	G	A	4: 136,339,574	R482H	unknown	Het
L2hgdh	T	C	12: 69,722,095	E81G	probably damaging	Het
Mre11a	T	C	9: 14,811,897	V389A	possibly damaging	Het
Mxra8	A	G	4: 155,842,801	T372A	probably benign	Het
Ncapg	T	A	5: 45,688,581	S593R	probably benign	Het
Ndufaf1	C	T	2: 119,658,287	W250*	probably null	Het
Neb	T	C	2: 52,153,069	E6783G	probably damaging	Het
Nmt2	T	C	2: 3,312,674	Y175H	probably damaging	Het
Olfml2b	T	C	1: 170,662,355		probably benign	Het
Pitpnm3	T	A	11: 72,056,138	M812L	probably damaging	Het
Pou2f3	A	G	9: 43,134,473		probably benign	Het
Prkdc	A	G	16: 15,783,087	T2871A	probably benign	Het
Rapgef4	A	G	2: 72,198,360	T392A	possibly damaging	Het
Rhov	G	T	2: 119,270,738	Q71K	probably benign	Het
Slc22a15	T	C	3: 101,860,794		probably benign	Het
Spaca1	T	A	4: 34,040,894	N22Y	probably damaging	Het
Stmnd1	A	G	13: 46,289,713	E107G	probably damaging	Het
Timm22	T	C	11: 76,407,437	V78A	probably damaging	Het
Usp47	T	C	7: 112,077,786		probably benign	Het
Utp4	A	C	8: 106,912,317	K419T	probably benign	Het
Zfp410	T	C	12: 84,325,791		probably null	Het

Other mutations in Cyp2d10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Cyp2d10	APN	15	82403314	missense	possibly damaging	0.71
IGL00840:Cyp2d10	APN	15	82404490	missense	probably benign	0.40
IGL01293:Cyp2d10	APN	15	82403009	missense	possibly damaging	0.92
IGL01339:Cyp2d10	APN	15	82403841	missense	probably benign	0.33
IGL02132:Cyp2d10	APN	15	82404607	intron	probably benign
IGL02713:Cyp2d10	APN	15	82406082	unclassified	probably benign
IGL02869:Cyp2d10	APN	15	82403868	missense	possibly damaging	0.84
R0102:Cyp2d10	UTSW	15	82404593	missense	probably benign	0.01
R0102:Cyp2d10	UTSW	15	82404593	missense	probably benign	0.01
R0279:Cyp2d10	UTSW	15	82405339	missense	possibly damaging	0.94
R0331:Cyp2d10	UTSW	15	82407026	missense	probably benign	0.12
R1344:Cyp2d10	UTSW	15	82405905	critical splice donor site	probably null
R1418:Cyp2d10	UTSW	15	82405905	critical splice donor site	probably null
R1465:Cyp2d10	UTSW	15	82403928	splice site	probably null
R1465:Cyp2d10	UTSW	15	82403928	splice site	probably null
R1706:Cyp2d10	UTSW	15	82405582	missense	probably damaging	0.96
R1712:Cyp2d10	UTSW	15	82403039	missense	probably damaging	1.00
R1940:Cyp2d10	UTSW	15	82405294	missense	probably benign	0.13
R1983:Cyp2d10	UTSW	15	82405999	missense	probably benign	0.15
R2056:Cyp2d10	UTSW	15	82403814	missense	probably damaging	1.00
R2058:Cyp2d10	UTSW	15	82403814	missense	probably damaging	1.00
R3707:Cyp2d10	UTSW	15	82403016	missense	possibly damaging	0.91
R3708:Cyp2d10	UTSW	15	82403016	missense	possibly damaging	0.91
R4042:Cyp2d10	UTSW	15	82406068	missense	probably benign	0.33
R4531:Cyp2d10	UTSW	15	82405261	missense	probably benign	0.31
R4694:Cyp2d10	UTSW	15	82404483	missense	probably damaging	1.00
R4869:Cyp2d10	UTSW	15	82403766	missense	probably benign	0.00
R5071:Cyp2d10	UTSW	15	82403753	missense	probably benign	0.07
R5072:Cyp2d10	UTSW	15	82403753	missense	probably benign	0.07
R5073:Cyp2d10	UTSW	15	82403753	missense	probably benign	0.07
R5074:Cyp2d10	UTSW	15	82403753	missense	probably benign	0.07
R5746:Cyp2d10	UTSW	15	82405271	missense	probably benign	0.38
R7096:Cyp2d10	UTSW	15	82405261	missense	probably benign
R7212:Cyp2d10	UTSW	15	82404246	critical splice acceptor site	probably null
R7324:Cyp2d10	UTSW	15	82403760	missense	probably damaging	0.97
R7487:Cyp2d10	UTSW	15	82404592	missense	probably benign	0.00
R7915:Cyp2d10	UTSW	15	82404427	critical splice donor site	probably null
R9071:Cyp2d10	UTSW	15	82404160	missense	probably damaging	0.99
R9460:Cyp2d10	UTSW	15	82405269	missense	probably benign	0.00
X0063:Cyp2d10	UTSW	15	82406000	missense	probably benign	0.01

Posted On

2014-05-07