Mutagenetix > Incidental Mutations

Incidental Mutation 'R5516:Cyp2d9'

431310

Institutional Source

Beutler Lab

Gene Symbol

Cyp2d9

Ensembl Gene

ENSMUSG00000068086

Gene Name

cytochrome P450, family 2, subfamily d, polypeptide 9

Synonyms

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

MMRRC Submission

043075-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5516 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82433437-82456845 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 82454327 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 136 (N136K)

Ref Sequence

ENSEMBL: ENSMUSP00000155000 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000089129
AA Change: N187K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086530
Gene: ENSMUSG00000068086
AA Change: N187K

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
AA Change: N136K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229473

Predicted Effect

probably null
Transcript: ENSMUST00000229793
AA Change: N85K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230000
AA Change: N64K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000230024

Predicted Effect

probably damaging
Transcript: ENSMUST00000230191
AA Change: N187K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231044

Predicted Effect

probably benign
Transcript: ENSMUST00000231136

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.4%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,431,157	K334R	probably damaging	Het
Aldh1l1	A	T	6: 90,596,945	I809F	possibly damaging	Het
Bmp2k	T	A	5: 97,087,453		probably benign	Het
C1qtnf9	T	A	14: 60,779,749	C243S	probably damaging	Het
Cacna1c	G	A	6: 119,057,218	A146V	probably damaging	Het
Ccdc85c	A	G	12: 108,207,850	V353A	probably damaging	Het
Cd300ld2	G	T	11: 115,012,444		probably benign	Het
Cd320	A	G	17: 33,848,047	Q170R	possibly damaging	Het
Cfap43	C	T	19: 47,738,209		probably null	Het
Chid1	A	G	7: 141,496,146	S365P	probably damaging	Het
Chrna7	T	G	7: 63,099,298	T479P	probably damaging	Het
Clasp1	G	T	1: 118,497,721	R35L	probably damaging	Het
Cluh	G	A	11: 74,660,444	R373H	probably damaging	Het
Cyp2b23	G	A	7: 26,673,057	R378*	probably null	Het
Efcab5	A	T	11: 77,188,789	S44T	possibly damaging	Het
Esrrg	A	T	1: 188,198,730	L316F	possibly damaging	Het
Fam222a	T	C	5: 114,611,828	Y362H	probably damaging	Het
Fat3	A	G	9: 15,998,709	V1999A	probably damaging	Het
Fes	A	T	7: 80,387,183	M51K	probably damaging	Het
Fmo3	T	A	1: 162,954,426	K453*	probably null	Het
Galnt1	A	G	18: 24,280,017	N458S	probably benign	Het
Gm13083	A	G	4: 143,615,683	Q120R	possibly damaging	Het
Gm8888	T	A	15: 96,766,974		noncoding transcript	Het
Gpn2	G	A	4: 133,584,879		probably null	Het
Grm4	G	A	17: 27,438,411	T464I	probably benign	Het
Insr	T	A	8: 3,155,764	K1342*	probably null	Het
Krt83	T	A	15: 101,487,121	K365*	probably null	Het
Lfng	T	C	5: 140,613,263	L309P	probably damaging	Het
Lnpk	T	C	2: 74,547,788		probably benign	Het
Lrrc8e	A	C	8: 4,235,818	D681A	probably damaging	Het
Lyst	G	A	13: 13,644,122	D1326N	probably benign	Het
Mmp27	A	G	9: 7,579,062	R413G	probably null	Het
Nags	C	T	11: 102,145,947	Q121*	probably null	Het
Nectin1	A	G	9: 43,803,793	E442G	probably benign	Het
Nek1	G	C	8: 61,089,489	A729P	probably benign	Het
Olfr645	A	G	7: 104,084,237	I281T	possibly damaging	Het
Pnp2	C	T	14: 50,963,738	A189V	probably benign	Het
Ppm1m	T	A	9: 106,197,939	I136F	probably damaging	Het
Psg17	G	T	7: 18,814,533	Q438K	probably benign	Het
Ptprk	C	T	10: 28,496,930	R726*	probably null	Het
Rab3gap2	A	T	1: 185,235,487	Y163F	probably benign	Het
Scrib	A	T	15: 76,062,863	L627Q	possibly damaging	Het
Tcp1	A	G	17: 12,924,334	K510R	probably damaging	Het
Tle4	A	T	19: 14,454,889	I481N	probably damaging	Het
Tmem43	G	T	6: 91,478,210	R56L	possibly damaging	Het
Trmt10a	T	C	3: 138,152,196	I168T	possibly damaging	Het
Trpv1	A	T	11: 73,245,983	Y96F	probably benign	Het
Tshz3	C	T	7: 36,770,350	T588I	probably benign	Het
Ugt2b38	A	G	5: 87,411,843	F397L	probably damaging	Het
Vmn2r11	A	G	5: 109,047,166	S765P	probably damaging	Het
Zfp668	A	G	7: 127,867,146	F289L	probably damaging	Het
Zfp735	A	G	11: 73,710,814	T195A	probably benign	Het
Zscan10	A	G	17: 23,609,359	T182A	possibly damaging	Het

Other mutations in Cyp2d9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Cyp2d9	APN	15	82455094	missense	probably benign	0.05
IGL00587:Cyp2d9	APN	15	82455143	missense	possibly damaging	0.89
IGL00815:Cyp2d9	APN	15	82456375	missense	possibly damaging	0.94
IGL03023:Cyp2d9	APN	15	82455518	missense	probably damaging	0.99
IGL03410:Cyp2d9	APN	15	82456699	missense	probably benign	0.00
R0417:Cyp2d9	UTSW	15	82455951	missense	probably damaging	1.00
R0627:Cyp2d9	UTSW	15	82455790	missense	probably damaging	1.00
R1326:Cyp2d9	UTSW	15	82455156	missense	possibly damaging	0.50
R1501:Cyp2d9	UTSW	15	82454324	nonsense	probably null
R1893:Cyp2d9	UTSW	15	82452606	missense	probably damaging	0.97
R2496:Cyp2d9	UTSW	15	82452479	missense	probably damaging	1.00
R2519:Cyp2d9	UTSW	15	82454518	splice site	probably null
R3155:Cyp2d9	UTSW	15	82452642	critical splice donor site	probably null
R4691:Cyp2d9	UTSW	15	82455832	missense	probably damaging	1.00
R4727:Cyp2d9	UTSW	15	82454401	start codon destroyed	probably null	0.99
R4770:Cyp2d9	UTSW	15	82452573	missense	probably damaging	0.98
R5319:Cyp2d9	UTSW	15	82454055	missense	probably damaging	1.00
R5486:Cyp2d9	UTSW	15	82452578	missense	probably damaging	0.96
R5646:Cyp2d9	UTSW	15	82452464	missense	probably benign	0.01
R5898:Cyp2d9	UTSW	15	82455524	missense	probably benign	0.02
R6193:Cyp2d9	UTSW	15	82452527	missense	probably benign	0.01
R6288:Cyp2d9	UTSW	15	82456415	missense	probably damaging	1.00
R6924:Cyp2d9	UTSW	15	82455212	missense	probably damaging	1.00
R7524:Cyp2d9	UTSW	15	82455945	missense	probably damaging	1.00
R7525:Cyp2d9	UTSW	15	82454092	missense	possibly damaging	0.91
R7731:Cyp2d9	UTSW	15	82455432	critical splice acceptor site	probably null
R7889:Cyp2d9	UTSW	15	82455826	missense	probably damaging	0.97
R8353:Cyp2d9	UTSW	15	82452519	missense	probably damaging	0.99
R8682:Cyp2d9	UTSW	15	82453716	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTACCCTGCGCAACTTTGG -3'
(R):5'- TTCCCTCAACGAAGACAGACTG -3'

Sequencing Primer
(F):5'- TTGGCCTGGGCAAGAAATCAC -3'
(R):5'- CTGCAAAGAAATGGCTGTGTACCC -3'

Posted On

2016-10-05