Mutagenetix > Incidental Mutation

Incidental Mutation 'R8709:Cyp2d9'

669465

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

068563-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R8709 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82336578-82341028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82339276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 226 (V226A)

Ref Sequence

ENSEMBL: ENSMUSP00000086530 (fasta)

Gene Model

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

AlphaFold

P11714

Predicted Effect

probably benign
Transcript: ENSMUST00000089129
AA Change: V226A

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000086530
Gene: ENSMUSG00000068086
AA Change: V226A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229313

Predicted Effect

probably benign
Transcript: ENSMUST00000229473

Predicted Effect

probably benign
Transcript: ENSMUST00000229793

Predicted Effect

probably benign
Transcript: ENSMUST00000230000
AA Change: V103A

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000230024
AA Change: V15A

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230191
AA Change: V226A

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000231136
AA Change: V196A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,504,316 (GRCm39)	S79P	unknown	Het
Aadacl4fm2	C	G	4: 144,281,863 (GRCm39)	A310P	probably damaging	Het
Adamts20	T	A	15: 94,238,947 (GRCm39)	D757V	probably damaging	Het
Adamts9	C	T	6: 92,784,144 (GRCm39)	G1570D	probably damaging	Het
Adamtsl3	A	G	7: 82,077,642 (GRCm39)	Y109C	possibly damaging	Het
Agl	G	A	3: 116,566,121 (GRCm39)	R335C		Het
Ankfy1	C	A	11: 72,646,532 (GRCm39)	T805K	possibly damaging	Het
Cast	A	T	13: 74,892,780 (GRCm39)	V96E	probably damaging	Het
Cdh17	G	T	4: 11,795,685 (GRCm39)	E422*	probably null	Het
Cox4i1	T	A	8: 121,396,110 (GRCm39)	L21H	possibly damaging	Het
Cwc22	T	C	2: 77,726,694 (GRCm39)	E795G	probably benign	Het
Cwf19l2	C	A	9: 3,430,723 (GRCm39)	Q352K	probably benign	Het
Dnah12	A	G	14: 26,414,757 (GRCm39)	I53V	probably benign	Het
Dnah7a	T	C	1: 53,674,476 (GRCm39)	I434V	probably benign	Het
Dock8	C	T	19: 25,055,448 (GRCm39)	Q137*	probably null	Het
Eif4b	T	G	15: 102,002,116 (GRCm39)	V515G	unknown	Het
Far2	T	A	6: 148,067,133 (GRCm39)	N339K	probably benign	Het
Gpr22	T	C	12: 31,759,829 (GRCm39)	T98A	probably damaging	Het
Hamp2	A	G	7: 30,621,974 (GRCm39)	C72R	probably damaging	Het
Hmgn1	G	A	16: 95,928,540 (GRCm39)	P16S	possibly damaging	Het
Hspd1	A	G	1: 55,120,922 (GRCm39)	S256P	probably benign	Het
Iqcn	T	C	8: 71,162,372 (GRCm39)	C522R	possibly damaging	Het
Iqgap2	T	C	13: 95,796,713 (GRCm39)	H1147R	probably damaging	Het
Itgb1	T	A	8: 129,439,887 (GRCm39)		probably benign	Het
Klhl29	A	T	12: 5,140,681 (GRCm39)	W654R	probably damaging	Het
Krtap22-2	T	A	16: 88,807,514 (GRCm39)	Y28F	unknown	Het
Lcp2	T	A	11: 34,004,354 (GRCm39)		probably benign	Het
Muc5ac	T	G	7: 141,370,663 (GRCm39)	L3225R	possibly damaging	Het
Myom3	A	G	4: 135,523,607 (GRCm39)	E908G	possibly damaging	Het
Nup54	A	G	5: 92,570,267 (GRCm39)		probably benign	Het
Or1p1	T	A	11: 74,180,054 (GRCm39)	I194N	possibly damaging	Het
Or4a74	C	T	2: 89,440,366 (GRCm39)	V27I	probably benign	Het
Or51af1	T	C	7: 103,141,519 (GRCm39)	T189A	probably benign	Het
Or5ae1	T	A	7: 84,565,671 (GRCm39)	I228N	probably damaging	Het
Pak4	A	C	7: 28,261,969 (GRCm39)	D453E	probably benign	Het
Pkd1l1	T	C	11: 8,805,567 (GRCm39)	T2120A		Het
Pkhd1l1	T	A	15: 44,381,570 (GRCm39)	S1099T	probably benign	Het
Pld2	C	T	11: 70,444,275 (GRCm39)	R524W	probably damaging	Het
Polr1a	T	A	6: 71,951,832 (GRCm39)	D1466E	probably benign	Het
Pxdn	C	T	12: 30,056,601 (GRCm39)	L1271F	probably damaging	Het
Rp1l1	A	C	14: 64,269,295 (GRCm39)	D1627A	probably damaging	Het
Sephs1	T	C	2: 4,889,402 (GRCm39)	V60A	probably benign	Het
Sipa1	C	T	19: 5,710,980 (GRCm39)	R10Q	probably damaging	Het
Sp4	T	C	12: 118,263,189 (GRCm39)	T286A	possibly damaging	Het
Spag5	T	A	11: 78,192,738 (GRCm39)	S23R	probably benign	Het
Spag9	T	A	11: 93,958,916 (GRCm39)	N313K	probably benign	Het
Stag1	T	A	9: 100,772,975 (GRCm39)		probably benign	Het
Stkld1	T	A	2: 26,835,817 (GRCm39)	H217Q	probably benign	Het
Stxbp2	T	A	8: 3,683,914 (GRCm39)	F104I	possibly damaging	Het
Tcf12	A	G	9: 71,765,787 (GRCm39)	V575A	possibly damaging	Het
Tcf12	A	T	9: 71,830,069 (GRCm39)	S131T	probably benign	Het
Tg	T	A	15: 66,553,786 (GRCm39)	S400R	probably benign	Het
Tomm40	T	C	7: 19,444,703 (GRCm39)	T200A	possibly damaging	Het
Trio	T	C	15: 27,919,323 (GRCm39)	E71G	unknown	Het
Zfp292	A	T	4: 34,805,982 (GRCm39)	V2359E	probably damaging	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
R4727:Cyp2d9	UTSW	15	82,338,602 (GRCm39)	start codon destroyed	probably null	0.99
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
R9159:Cyp2d9	UTSW	15	82,338,572 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- CACTGAGGAGCCAGTCAAAG -3'
(R):5'- TCTCTATCTCTGCCAGGAAGG -3'

Sequencing Primer
(F):5'- TTGGGTAAGGAGCTTGCCAAG -3'
(R):5'- GGCATCAGTCAAATTTCGGG -3'

Posted On

2021-04-30