Mutagenetix > Incidental Mutation

Incidental Mutation 'R6087:Cyp2d40'

484624

Institutional Source

Beutler Lab

Gene Symbol

Cyp2d40

Ensembl Gene

ENSMUSG00000068083

Gene Name

cytochrome P450, family 2, subfamily d, polypeptide 40

Synonyms

1300013D18Rik

MMRRC Submission

044244-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R6087 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82644034-82648323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82648205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 36 (Y36C)

Ref Sequence

ENSEMBL: ENSMUSP00000060524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055721]

AlphaFold

Q6P8N9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055721
AA Change: Y36C

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000060524
Gene: ENSMUSG00000068083
AA Change: Y36C

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
Pfam:p450	59	335	1.3e-94	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230433

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,119,621 (GRCm39)	K126R	possibly damaging	Het
Adam7	A	T	14: 68,748,206 (GRCm39)	C548S	probably damaging	Het
Adar	C	A	3: 89,652,897 (GRCm39)	H260N	probably benign	Het
Ak9	A	G	10: 41,258,828 (GRCm39)	E775G	probably benign	Het
Arhgap35	T	C	7: 16,297,568 (GRCm39)	Y499C	probably damaging	Het
Bank1	A	G	3: 135,772,190 (GRCm39)	L480P	probably damaging	Het
Cep135	G	T	5: 76,763,638 (GRCm39)		probably null	Het
Cnga1	G	T	5: 72,768,155 (GRCm39)	A177E	probably damaging	Het
Cubn	T	A	2: 13,432,658 (GRCm39)	D1221V	probably damaging	Het
Dock8	C	A	19: 25,138,438 (GRCm39)	N1254K	probably benign	Het
Elapor2	T	C	5: 9,449,255 (GRCm39)	S128P	probably damaging	Het
Fam13b	C	T	18: 34,620,192 (GRCm39)	V231I	possibly damaging	Het
Fbxo8	T	A	8: 57,022,353 (GRCm39)	Y122N	probably damaging	Het
Fmo2	T	A	1: 162,708,002 (GRCm39)	I378F	probably benign	Het
Golga3	A	T	5: 110,352,812 (GRCm39)	Q861L	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ighv3-8	G	T	12: 114,286,000 (GRCm39)	A114E	probably damaging	Het
Itga3	C	T	11: 94,943,269 (GRCm39)		probably null	Het
Kank1	G	A	19: 25,387,088 (GRCm39)	V254I	probably benign	Het
Lipo5	A	T	19: 33,443,375 (GRCm39)	I147K	unknown	Het
Lrfn2	A	G	17: 49,378,154 (GRCm39)	S412G	probably benign	Het
Lrrn3	T	C	12: 41,503,534 (GRCm39)	N261S	possibly damaging	Het
Mical2	C	T	7: 111,917,692 (GRCm39)	Q350*	probably null	Het
Nras	T	C	3: 102,967,637 (GRCm39)	F78L	probably damaging	Het
Nudt9	A	G	5: 104,198,679 (GRCm39)	I65V	probably benign	Het
Or10ag59	A	G	2: 87,406,259 (GRCm39)	D277G	probably benign	Het
Or4f17-ps1	A	T	2: 111,358,526 (GRCm39)	E289V	possibly damaging	Het
Oscar	G	A	7: 3,614,311 (GRCm39)	P143S	probably benign	Het
Pla2g4d	C	T	2: 120,100,487 (GRCm39)	G615D	probably damaging	Het
Plekha1	T	G	7: 130,502,301 (GRCm39)	S175A	probably benign	Het
Psg27	T	C	7: 18,290,869 (GRCm39)	K445E	probably benign	Het
Rad51c	A	G	11: 87,271,705 (GRCm39)	Y318H	probably benign	Het
Ret	G	T	6: 118,153,252 (GRCm39)	T472K	possibly damaging	Het
Tarbp1	T	C	8: 127,155,709 (GRCm39)	D1343G	probably benign	Het
Top2b	C	A	14: 16,409,864 (GRCm38)	R844S	probably benign	Het
Vmn1r171	T	A	7: 23,332,429 (GRCm39)	M218K	probably damaging	Het
Vmn2r89	A	T	14: 51,695,033 (GRCm39)		probably null	Het
Zc3h13	T	A	14: 75,568,149 (GRCm39)	D1147E	probably damaging	Het
Zgrf1	T	A	3: 127,409,135 (GRCm39)	L1703H	probably damaging	Het

Other mutations in Cyp2d40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01134:Cyp2d40	APN	15	82,645,102 (GRCm39)	missense	unknown
IGL01313:Cyp2d40	APN	15	82,645,478 (GRCm39)	missense	unknown
IGL01714:Cyp2d40	APN	15	82,645,441 (GRCm39)	missense	possibly damaging	0.55
IGL02324:Cyp2d40	APN	15	82,645,149 (GRCm39)	splice site	probably benign
IGL02993:Cyp2d40	APN	15	82,645,722 (GRCm39)	missense	probably benign	0.19
IGL03162:Cyp2d40	APN	15	82,644,243 (GRCm39)	missense	unknown
R0070:Cyp2d40	UTSW	15	82,644,975 (GRCm39)	missense	unknown
R0499:Cyp2d40	UTSW	15	82,645,418 (GRCm39)	missense	probably benign	0.11
R0885:Cyp2d40	UTSW	15	82,645,116 (GRCm39)	missense	unknown
R1587:Cyp2d40	UTSW	15	82,645,334 (GRCm39)	splice site	probably null
R1613:Cyp2d40	UTSW	15	82,645,640 (GRCm39)	missense	unknown
R4773:Cyp2d40	UTSW	15	82,645,763 (GRCm39)	missense	possibly damaging	0.73
R5047:Cyp2d40	UTSW	15	82,644,460 (GRCm39)	missense	unknown
R5604:Cyp2d40	UTSW	15	82,648,256 (GRCm39)	missense	probably damaging	0.99
R6334:Cyp2d40	UTSW	15	82,645,753 (GRCm39)	missense	probably benign	0.03
R6841:Cyp2d40	UTSW	15	82,645,687 (GRCm39)	missense	probably benign	0.03
R7017:Cyp2d40	UTSW	15	82,644,234 (GRCm39)	missense	unknown
R7045:Cyp2d40	UTSW	15	82,645,763 (GRCm39)	missense	probably benign	0.01
R7565:Cyp2d40	UTSW	15	82,644,975 (GRCm39)	missense	unknown
R7934:Cyp2d40	UTSW	15	82,648,212 (GRCm39)	missense	probably damaging	0.99
R8896:Cyp2d40	UTSW	15	82,644,454 (GRCm39)	missense	unknown
R9378:Cyp2d40	UTSW	15	82,645,802 (GRCm39)	missense	possibly damaging	0.86
R9522:Cyp2d40	UTSW	15	82,648,274 (GRCm39)	missense	possibly damaging	0.50
R9558:Cyp2d40	UTSW	15	82,645,667 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAAACTTGGCCCGTTTAGAG -3'
(R):5'- AAGGTGGTAGGATCCAAGCTTG -3'

Sequencing Primer
(F):5'- CCCGTTTAGAGGTTCCAGATCG -3'
(R):5'- GGTCTTCCTGATCCAAGGTG -3'

Posted On

2017-08-16