Mutagenetix > Incidental Mutation

Incidental Mutation 'R5898:Cyp2d9'

457690

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

044097-MU

Accession Numbers

Essential gene?

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

Stock #

R5898 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82336578-82341028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82339725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 104 (T104A)

Ref Sequence

ENSEMBL: ENSMUSP00000155373 (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: T315A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000086530
Gene: ENSMUSG00000068086
AA Change: T315A

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 benign
Transcript: ENSMUST00000229313

Predicted Effect

probably benign
Transcript: ENSMUST00000229473

Predicted Effect

probably benign
Transcript: ENSMUST00000229793

Predicted Effect

probably benign
Transcript: ENSMUST00000230000

Predicted Effect

probably benign
Transcript: ENSMUST00000230024
AA Change: T104A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000230191

Predicted Effect

probably benign
Transcript: ENSMUST00000231136

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.8%

Validation Efficiency

96% (86/90)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	G	T	10: 100,448,762 (GRCm39)	R158L	possibly damaging	Het
1700017N19Rik	G	A	10: 100,451,070 (GRCm39)	M179I	probably benign	Het
Abhd12	T	C	2: 150,681,698 (GRCm39)	I231V	possibly damaging	Het
Adsl	A	G	15: 80,845,554 (GRCm39)		probably null	Het
Ahnak	C	A	19: 8,991,131 (GRCm39)	N4138K	possibly damaging	Het
Ahnak	T	C	19: 8,995,575 (GRCm39)	S5620P	probably damaging	Het
Akap13	C	T	7: 75,378,894 (GRCm39)	T2145I	probably damaging	Het
Alpk2	T	A	18: 65,440,694 (GRCm39)	Q700L	probably damaging	Het
Apobec1	T	C	6: 122,557,732 (GRCm39)	Y159C	probably damaging	Het
Atg9a	T	C	1: 75,162,916 (GRCm39)	T395A	probably damaging	Het
Atp6v1f	A	G	6: 29,467,957 (GRCm39)	I48V	probably benign	Het
BC051665	A	C	13: 60,930,518 (GRCm39)	V278G	probably damaging	Het
Bicd1	A	T	6: 149,415,201 (GRCm39)	H638L	probably damaging	Het
Cacna2d4	A	G	6: 119,251,192 (GRCm39)	Y460C	probably damaging	Het
Ccdc157	C	A	11: 4,094,538 (GRCm39)	R496L	probably benign	Het
Cdcp3	T	G	7: 130,843,696 (GRCm39)		probably null	Het
Cep44	C	G	8: 56,994,056 (GRCm39)	V174L	probably damaging	Het
Clca3a1	G	T	3: 144,722,522 (GRCm39)	F283L	possibly damaging	Het
Csk	T	C	9: 57,537,585 (GRCm39)	T110A	probably benign	Het
Cspg4	T	A	9: 56,792,506 (GRCm39)		probably null	Het
Cutc	A	G	19: 43,748,468 (GRCm39)	I124V	probably benign	Het
Cyp2j9	G	T	4: 96,465,951 (GRCm39)	T294K	probably benign	Het
D630003M21Rik	T	A	2: 158,046,577 (GRCm39)		probably null	Het
Dcaf15	G	T	8: 84,825,081 (GRCm39)	F450L	probably damaging	Het
Ddhd1	A	T	14: 45,840,125 (GRCm39)	I723K	probably damaging	Het
Dnah17	C	T	11: 118,005,039 (GRCm39)	A782T	probably benign	Het
Dnah3	T	C	7: 119,677,724 (GRCm39)	D399G	probably benign	Het
Dync2h1	T	C	9: 7,148,717 (GRCm39)	N909S	probably benign	Het
Erbin	A	G	13: 103,975,813 (GRCm39)		probably null	Het
Fanci	G	A	7: 79,083,069 (GRCm39)	V682I	probably benign	Het
Fap	A	T	2: 62,403,847 (GRCm39)	F9L	probably benign	Het
Fat3	T	C	9: 15,849,757 (GRCm39)	I3882V	probably benign	Het
Fkbp15	A	T	4: 62,244,294 (GRCm39)		probably null	Het
Fsd2	T	C	7: 81,186,975 (GRCm39)	Y601C	probably damaging	Het
Gm5900	T	C	7: 104,599,468 (GRCm39)		noncoding transcript	Het
Gramd4	G	T	15: 85,984,985 (GRCm39)	G82V	probably damaging	Het
Hc	C	T	2: 34,887,449 (GRCm39)	V1352I	probably benign	Het
Hsph1	A	T	5: 149,548,623 (GRCm39)	N466K	probably damaging	Het
Ice2	T	A	9: 69,315,544 (GRCm39)	D133E	probably benign	Het
Ifi213	T	C	1: 173,396,545 (GRCm39)	M510V	probably benign	Het
Itpkb	T	G	1: 180,248,880 (GRCm39)	L861R	probably damaging	Het
Kbtbd3	T	A	9: 4,330,476 (GRCm39)	D283E	probably damaging	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Masp1	T	A	16: 23,310,677 (GRCm39)	I252F	probably damaging	Het
Megf11	G	T	9: 64,593,246 (GRCm39)	C586F	probably damaging	Het
Myh2	C	A	11: 67,083,545 (GRCm39)	A1476E	possibly damaging	Het
Myo18b	A	T	5: 112,950,196 (GRCm39)		probably null	Het
Naip6	A	T	13: 100,435,829 (GRCm39)	V898E	possibly damaging	Het
Nav1	T	C	1: 135,512,884 (GRCm39)	M59V	probably benign	Het
Nlrp3	A	T	11: 59,437,678 (GRCm39)	Y119F	probably benign	Het
Oxa1l	T	A	14: 54,600,758 (GRCm39)	I77N	possibly damaging	Het
Pcdhb8	T	A	18: 37,490,537 (GRCm39)	D738E	possibly damaging	Het
Pdia5	A	T	16: 35,243,335 (GRCm39)	W269R	probably damaging	Het
Peak1	T	A	9: 56,114,622 (GRCm39)	T1440S	probably benign	Het
Piezo1	A	G	8: 123,214,682 (GRCm39)	V1547A	probably benign	Het
Pkp1	T	C	1: 135,810,259 (GRCm39)	Y437C	probably damaging	Het
Pla2r1	T	C	2: 60,253,104 (GRCm39)	D1329G	probably damaging	Het
Ppip5k2	T	C	1: 97,671,887 (GRCm39)		probably benign	Het
Prrg4	C	T	2: 104,675,378 (GRCm39)	S75N	probably benign	Het
Psmb9	T	A	17: 34,401,266 (GRCm39)	I198F	probably damaging	Het
Rcbtb2	T	A	14: 73,399,405 (GRCm39)	L23*	probably null	Het
Sbno1	A	T	5: 124,524,854 (GRCm39)		probably benign	Het
Scn3a	T	C	2: 65,345,039 (GRCm39)	E483G	probably damaging	Het
Sdccag8	T	A	1: 176,652,388 (GRCm39)	D46E	probably benign	Het
Selenov	A	G	7: 27,987,579 (GRCm39)	F293L	probably damaging	Het
Septin2	A	C	1: 93,407,023 (GRCm39)	D20A	probably benign	Het
Shc1	T	A	3: 89,334,274 (GRCm39)	Y313*	probably null	Het
Siglec1	T	A	2: 130,915,553 (GRCm39)	Y1346F	probably damaging	Het
Slc22a5	T	A	11: 53,764,559 (GRCm39)	I296F	probably damaging	Het
Slc9c1	A	G	16: 45,365,123 (GRCm39)	N152S	probably damaging	Het
Smoc1	C	T	12: 81,151,531 (GRCm39)	R83*	probably null	Het
Ssx2ip	A	G	3: 146,133,586 (GRCm39)	D227G	possibly damaging	Het
Tbrg4	T	C	11: 6,567,372 (GRCm39)	D576G	probably damaging	Het
Tbx20	T	A	9: 24,670,155 (GRCm39)	Y226F	probably damaging	Het
Trav10d	G	T	14: 53,048,929 (GRCm39)	A107S	probably damaging	Het
Trim60	A	T	8: 65,453,016 (GRCm39)	L411*	probably null	Het
Ttbk2	A	T	2: 120,575,521 (GRCm39)	V1083D	probably benign	Het
Unc93a	T	A	17: 13,344,464 (GRCm39)	Q26L	probably damaging	Het
Usp14	T	A	18: 10,022,819 (GRCm39)	N65I	possibly damaging	Het
Vip	A	T	10: 5,593,988 (GRCm39)	S114C	probably damaging	Het
Vmn1r237	A	T	17: 21,534,813 (GRCm39)	I179F	probably damaging	Het
Wdr47	T	A	3: 108,545,201 (GRCm39)		probably null	Het
Zfp975	A	T	7: 42,311,963 (GRCm39)	C217S	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
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'- CTGTGAGCTGTGAGGCAAGATG -3'
(R):5'- GCTGAGGCCATGTCAGAAAC -3'

Sequencing Primer
(F):5'- GAGTCCTGTGTATCACCAAGTGAC -3'
(R):5'- GGCCATGTCAGAAACACCAGTG -3'

Posted On

2017-02-15