Mutagenetix > Incidental Mutation

Incidental Mutation 'R4727:Cyp2d9'

358561

Institutional Source

Beutler Lab

Gene Symbol

Cyp2d9

Ensembl Gene

ENSMUSG00000068086

Gene Name

cytochrome P450, family 2, subfamily d, polypeptide 9

Synonyms

testosterone 16alpha-hydroxylase, P450-2D, Cyp2d

MMRRC Submission

041602-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R4727 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82336578-82341028 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 82338602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1 (L1P)

Ref Sequence

ENSEMBL: ENSMUSP00000155373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089129] [ENSMUST00000229313] [ENSMUST00000229473] [ENSMUST00000229793] [ENSMUST00000230000] [ENSMUST00000230191] [ENSMUST00000231136] [ENSMUST00000230024]

AlphaFold

P11714

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089129
AA Change: L212P

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000086530
Gene: ENSMUSG00000068086
AA Change: L212P

Domain	Start	End	E-Value	Type
Pfam:p450	37	497	1.7e-142	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229181

Predicted Effect

probably null
Transcript: ENSMUST00000229313

Predicted Effect

probably benign
Transcript: ENSMUST00000229473

Predicted Effect

probably benign
Transcript: ENSMUST00000229793

Predicted Effect

probably damaging
Transcript: ENSMUST00000230000
AA Change: L89P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230191
AA Change: L212P

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231136
AA Change: L182P

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably null
Transcript: ENSMUST00000230024
AA Change: L1P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231044

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,062,489 (GRCm39)	N483S	probably benign	Het
Acoxl	T	G	2: 127,820,658 (GRCm39)	L70R	probably damaging	Het
Ankrd44	A	T	1: 54,706,576 (GRCm39)	F627I	probably benign	Het
Ash2l	A	T	8: 26,308,623 (GRCm39)	I552N	probably damaging	Het
B4galt1	A	G	4: 40,807,812 (GRCm39)	S330P	probably damaging	Het
Bnip3	T	C	7: 138,500,435 (GRCm39)	S52G	probably damaging	Het
Btd	A	G	14: 31,384,278 (GRCm39)	Q88R	probably benign	Het
C4bp	A	G	1: 130,566,922 (GRCm39)	V318A	probably benign	Het
Cacna1e	G	A	1: 154,312,214 (GRCm39)	Q1530*	probably null	Het
Calm1	T	C	12: 100,166,485 (GRCm39)	F23S	probably benign	Het
Cep290	T	G	10: 100,399,132 (GRCm39)	I2218R	probably benign	Het
Ces2c	T	C	8: 105,574,672 (GRCm39)	I43T	probably benign	Het
Dgki	C	A	6: 37,276,748 (GRCm39)		probably benign	Het
Dhh	A	G	15: 98,796,023 (GRCm39)	L44P	probably damaging	Het
Dnah12	A	G	14: 26,594,274 (GRCm39)	I3409V	probably damaging	Het
Dnah7b	G	A	1: 46,246,816 (GRCm39)	R1664H	probably damaging	Het
Dnah8	T	C	17: 31,070,721 (GRCm39)	M4469T	probably damaging	Het
Ehhadh	T	C	16: 21,581,181 (GRCm39)	I604V	probably benign	Het
Esr1	A	G	10: 4,951,418 (GRCm39)	I599V	probably benign	Het
Faf1	G	A	4: 109,697,564 (GRCm39)	D297N	probably damaging	Het
Gfra1	A	T	19: 58,252,386 (GRCm39)	N380K	probably damaging	Het
Ghitm	A	G	14: 36,855,700 (GRCm39)	C8R	probably damaging	Het
Ifna4	C	A	4: 88,760,519 (GRCm39)	T141K	probably benign	Het
Itsn2	A	G	12: 4,757,660 (GRCm39)	Y1424C	probably damaging	Het
Kcnj10	A	G	1: 172,197,266 (GRCm39)	D260G	probably damaging	Het
Klf16	T	C	10: 80,405,020 (GRCm39)	D164G	probably damaging	Het
Klhdc7b	T	A	15: 89,271,785 (GRCm39)	L889Q	probably damaging	Het
Lcmt2	C	G	2: 120,969,911 (GRCm39)	V171L	probably benign	Het
Lrp11	A	G	10: 7,466,348 (GRCm39)	E153G	probably benign	Het
Lrrc43	A	T	5: 123,632,366 (GRCm39)	T170S	probably damaging	Het
Lsr	T	C	7: 30,665,465 (GRCm39)	Y163C	probably damaging	Het
Man1a	A	T	10: 53,783,668 (GRCm39)		probably null	Het
Mmp24	C	T	2: 155,657,819 (GRCm39)	P570S	possibly damaging	Het
Ms4a3	A	G	19: 11,608,742 (GRCm39)	M170T	probably damaging	Het
Naip5	C	A	13: 100,358,378 (GRCm39)	A953S	possibly damaging	Het
Nfrkb	T	C	9: 31,314,919 (GRCm39)	S580P	probably damaging	Het
Or51q1c	T	G	7: 103,653,097 (GRCm39)	V205G	probably benign	Het
Or8b38	T	C	9: 37,973,389 (GRCm39)	Y258H	probably damaging	Het
Padi6	T	G	4: 140,458,506 (GRCm39)	D462A	probably damaging	Het
Pde6a	A	G	18: 61,364,561 (GRCm39)	R206G	probably benign	Het
Plk4	A	G	3: 40,759,589 (GRCm39)	N162D	probably benign	Het
Ptpn13	T	A	5: 103,717,721 (GRCm39)	D1922E	probably benign	Het
Rangap1	G	A	15: 81,613,956 (GRCm39)		probably benign	Het
Rapgef3	A	G	15: 97,658,481 (GRCm39)	L175P	probably damaging	Het
Rps6kb1	G	C	11: 86,435,484 (GRCm39)		probably null	Het
Satb1	T	C	17: 52,111,375 (GRCm39)	Y161C	probably damaging	Het
Sel1l3	C	A	5: 53,301,525 (GRCm39)		probably null	Het
Slc17a7	C	T	7: 44,822,358 (GRCm39)	S398L	possibly damaging	Het
Slc22a4	T	A	11: 53,918,477 (GRCm39)	E109V	possibly damaging	Het
Slc26a7	C	T	4: 14,590,477 (GRCm39)	A105T	probably damaging	Het
Slc47a1	T	C	11: 61,254,277 (GRCm39)	N145S	possibly damaging	Het
Tank	A	G	2: 61,483,876 (GRCm39)	T441A	probably benign	Het
Tefm	T	C	11: 80,031,279 (GRCm39)		probably benign	Het
Ttbk2	T	C	2: 120,575,851 (GRCm39)	Y1042C	probably benign	Het
Wdfy3	T	C	5: 102,077,894 (GRCm39)	Q892R	probably damaging	Het
Wdr33	T	A	18: 32,021,500 (GRCm39)	H683Q	unknown	Het
Zfp36l2	T	A	17: 84,495,089 (GRCm39)	I12F	probably benign	Het
Zfyve26	A	T	12: 79,291,170 (GRCm39)	M2145K	probably benign	Het

Other mutations in Cyp2d9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Cyp2d9	APN	15	82,339,295 (GRCm39)	missense	probably benign	0.05
IGL00587:Cyp2d9	APN	15	82,339,344 (GRCm39)	missense	possibly damaging	0.89
IGL00815:Cyp2d9	APN	15	82,340,576 (GRCm39)	missense	possibly damaging	0.94
IGL03023:Cyp2d9	APN	15	82,339,719 (GRCm39)	missense	probably damaging	0.99
IGL03410:Cyp2d9	APN	15	82,340,900 (GRCm39)	missense	probably benign	0.00
R0417:Cyp2d9	UTSW	15	82,340,152 (GRCm39)	missense	probably damaging	1.00
R0627:Cyp2d9	UTSW	15	82,339,991 (GRCm39)	missense	probably damaging	1.00
R1326:Cyp2d9	UTSW	15	82,339,357 (GRCm39)	missense	possibly damaging	0.50
R1501:Cyp2d9	UTSW	15	82,338,525 (GRCm39)	nonsense	probably null
R1893:Cyp2d9	UTSW	15	82,336,807 (GRCm39)	missense	probably damaging	0.97
R2496:Cyp2d9	UTSW	15	82,336,680 (GRCm39)	missense	probably damaging	1.00
R2519:Cyp2d9	UTSW	15	82,338,719 (GRCm39)	splice site	probably null
R3155:Cyp2d9	UTSW	15	82,336,843 (GRCm39)	critical splice donor site	probably null
R4691:Cyp2d9	UTSW	15	82,340,033 (GRCm39)	missense	probably damaging	1.00
R4770:Cyp2d9	UTSW	15	82,336,774 (GRCm39)	missense	probably damaging	0.98
R5319:Cyp2d9	UTSW	15	82,338,256 (GRCm39)	missense	probably damaging	1.00
R5486:Cyp2d9	UTSW	15	82,336,779 (GRCm39)	missense	probably damaging	0.96
R5516:Cyp2d9	UTSW	15	82,338,528 (GRCm39)	missense	probably null	1.00
R5646:Cyp2d9	UTSW	15	82,336,665 (GRCm39)	missense	probably benign	0.01
R5898:Cyp2d9	UTSW	15	82,339,725 (GRCm39)	missense	probably benign	0.02
R6193:Cyp2d9	UTSW	15	82,336,728 (GRCm39)	missense	probably benign	0.01
R6288:Cyp2d9	UTSW	15	82,340,616 (GRCm39)	missense	probably damaging	1.00
R6924:Cyp2d9	UTSW	15	82,339,413 (GRCm39)	missense	probably damaging	1.00
R7524:Cyp2d9	UTSW	15	82,340,146 (GRCm39)	missense	probably damaging	1.00
R7525:Cyp2d9	UTSW	15	82,338,293 (GRCm39)	missense	possibly damaging	0.91
R7731:Cyp2d9	UTSW	15	82,339,633 (GRCm39)	critical splice acceptor site	probably null
R7889:Cyp2d9	UTSW	15	82,340,027 (GRCm39)	missense	probably damaging	0.97
R8353:Cyp2d9	UTSW	15	82,336,720 (GRCm39)	missense	probably damaging	0.99
R8682:Cyp2d9	UTSW	15	82,337,917 (GRCm39)	missense	probably damaging	1.00
R8709:Cyp2d9	UTSW	15	82,339,276 (GRCm39)	missense	probably benign	0.19
R9159:Cyp2d9	UTSW	15	82,338,572 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- TGACCAAGGAGGCCAATCAC -3'
(R):5'- CTGTCATTGAACAGGTGTCAAC -3'

Sequencing Primer
(F):5'- TGATGCCTTCACCGCCCAG -3'
(R):5'- GTGTCAACCATCATATCCTCCTACAG -3'

Posted On

2015-11-11