Mutagenetix > Incidental Mutation

Incidental Mutation 'R8194:Cyp2d11'

635370

Institutional Source

Beutler Lab

Gene Symbol

Cyp2d11

Ensembl Gene

ENSMUSG00000068085

Gene Name

cytochrome P450, family 2, subfamily d, polypeptide 11

Synonyms

Cyp2d, P450-2D

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R8194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82389154-82394022 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 82390437 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 313 (T313N)

Ref Sequence

ENSEMBL: ENSMUSP00000130338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170255]

AlphaFold

P24457

Predicted Effect

probably damaging
Transcript: ENSMUST00000170255
AA Change: T313N

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

SMART Domains

Protein: ENSMUSP00000130338
Gene: ENSMUSG00000068085
AA Change: T313N

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:p450	37	497	7.7e-140	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid4a	T	A	12: 71,060,115	Y320*	probably null	Het
Ash1l	T	A	3: 89,052,755	C2265S	probably damaging	Het
Atg4b	T	A	1: 93,785,972	C55*	probably null	Het
Cacna1s	A	T	1: 136,077,692	N405I	probably benign	Het
Capn11	A	T	17: 45,633,399	D526E	probably damaging	Het
Ccdc188	A	G	16: 18,218,380	R71G	probably benign	Het
Ccser2	G	A	14: 36,896,263	R772W	probably damaging	Het
Cenpf	T	A	1: 189,682,403	E172D	probably benign	Het
Cep85	T	C	4: 134,134,089	M627V	probably null	Het
Chd1	G	A	17: 17,374,475		probably benign	Het
Cnst	A	G	1: 179,610,194	H441R	probably benign	Het
Cyp2g1	A	G	7: 26,814,734	N255S	possibly damaging	Het
Dnah5	A	G	15: 28,453,268	D4395G	probably damaging	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 76,002,775		probably benign	Het
Fcnb	C	T	2: 28,078,318	S209N	possibly damaging	Het
Gpsm1	CT	CTT	2: 26,327,352		probably null	Het
Lama4	A	G	10: 39,078,720	S1090G	probably damaging	Het
Malrd1	A	G	2: 15,925,120	D1479G	unknown	Het
Man2a2	T	C	7: 80,361,018	K742E	probably benign	Het
Mapk8	A	T	14: 33,382,284	S392T	probably benign	Het
Mark3	T	C	12: 111,592,683	I53T	probably damaging	Het
Mcmdc2	A	G	1: 9,916,642	I219V	probably benign	Het
Mlycd	A	T	8: 119,407,593	E278V	probably benign	Het
Muc2	G	T	7: 141,704,252	C29F		Het
Mup20	T	C	4: 62,053,484	I77V	probably benign	Het
Myh3	A	G	11: 67,092,002	E849G	probably damaging	Het
Nedd4	A	G	9: 72,686,107	N154S	probably damaging	Het
Olfr397	A	T	11: 73,965,414	I269F	probably benign	Het
Pcdh7	A	T	5: 57,720,336	N411I	probably damaging	Het
Plekhm1	A	G	11: 103,395,060	I183T	possibly damaging	Het
Prkar2a	G	A	9: 108,692,511	V19M	probably damaging	Het
Prss35	T	G	9: 86,755,613	N145K	possibly damaging	Het
Ranbp2	T	A	10: 58,455,925	D251E	possibly damaging	Het
Rnf169	C	A	7: 99,926,444	V315F	probably damaging	Het
Slc32a1	T	C	2: 158,613,841	Y139H	probably damaging	Het
Slc5a2	T	C	7: 128,271,156	V522A	probably benign	Het
Slc6a6	A	T	6: 91,740,971	Q297L	probably damaging	Het
Sos2	A	C	12: 69,598,824	Y914D	probably damaging	Het
Spata1	G	T	3: 146,489,859	T32N	possibly damaging	Het
Srcap	C	T	7: 127,539,197	R1180C	probably damaging	Het
St14	A	T	9: 31,131,625	M1K	probably null	Het
Tcaf1	T	C	6: 42,675,302	T749A	probably benign	Het
Tcp1	T	C	17: 12,922,734		probably null	Het
Tle6	A	G	10: 81,591,054	V576A	probably damaging	Het
Ttc25	G	A	11: 100,563,676	G429E	probably benign	Het
Usp17lc	T	A	7: 103,418,200	M234K	probably benign	Het
Washc4	A	G	10: 83,580,299	I818V	possibly damaging	Het
Zdhhc18	A	G	4: 133,613,854	L236P	probably damaging	Het
Zfp266	T	C	9: 20,500,314	D189G	probably benign	Het
Zfp474	A	T	18: 52,639,157	D294V	probably damaging	Het
Zfp568	T	C	7: 30,023,333	F568L	probably damaging	Het
Zfp93	A	G	7: 24,276,054	K488R	probably benign	Het

Other mutations in Cyp2d11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Cyp2d11	APN	15	82392468	missense	probably benign	0.00
IGL00896:Cyp2d11	APN	15	82391074	splice site	probably benign
IGL02119:Cyp2d11	APN	15	82390064	missense	probably damaging	0.98
IGL02234:Cyp2d11	APN	15	82390139	missense	probably benign
IGL02347:Cyp2d11	APN	15	82390480	missense	probably benign	0.22
IGL02352:Cyp2d11	APN	15	82393920	missense	possibly damaging	0.50
IGL02359:Cyp2d11	APN	15	82393920	missense	possibly damaging	0.50
IGL02876:Cyp2d11	APN	15	82389496	missense	possibly damaging	0.85
IGL03079:Cyp2d11	APN	15	82390966	missense	probably damaging	1.00
IGL03259:Cyp2d11	APN	15	82390020	missense	probably damaging	0.99
FR4340:Cyp2d11	UTSW	15	82390022	frame shift	probably null
R0066:Cyp2d11	UTSW	15	82391757	missense	probably benign
R0066:Cyp2d11	UTSW	15	82391757	missense	probably benign
R0101:Cyp2d11	UTSW	15	82390194	splice site	probably benign
R0125:Cyp2d11	UTSW	15	82389221	missense	probably benign	0.45
R0973:Cyp2d11	UTSW	15	82389529	missense	possibly damaging	0.80
R1466:Cyp2d11	UTSW	15	82391735	missense	probably benign	0.00
R1466:Cyp2d11	UTSW	15	82391735	missense	probably benign	0.00
R1525:Cyp2d11	UTSW	15	82389297	missense	probably damaging	0.98
R1708:Cyp2d11	UTSW	15	82390432	missense	probably benign	0.01
R1968:Cyp2d11	UTSW	15	82389548	missense	probably benign	0.01
R2117:Cyp2d11	UTSW	15	82391753	missense	probably damaging	0.99
R2223:Cyp2d11	UTSW	15	82390131	missense	probably benign	0.23
R2405:Cyp2d11	UTSW	15	82389266	missense	possibly damaging	0.88
R3745:Cyp2d11	UTSW	15	82391855	missense	probably benign	0.31
R4081:Cyp2d11	UTSW	15	82391801	missense	possibly damaging	0.86
R4496:Cyp2d11	UTSW	15	82391948	splice site	probably benign
R4732:Cyp2d11	UTSW	15	82389227	missense	probably benign	0.03
R4733:Cyp2d11	UTSW	15	82389227	missense	probably benign	0.03
R4880:Cyp2d11	UTSW	15	82392105	missense	probably benign	0.01
R4898:Cyp2d11	UTSW	15	82391023	missense	probably benign	0.03
R5045:Cyp2d11	UTSW	15	82391071	critical splice acceptor site	probably null
R5328:Cyp2d11	UTSW	15	82391771	missense	probably benign	0.04
R5356:Cyp2d11	UTSW	15	82390511	missense	probably benign	0.11
R5397:Cyp2d11	UTSW	15	82392078	missense	probably damaging	1.00
R5582:Cyp2d11	UTSW	15	82392118	splice site	probably null
R6862:Cyp2d11	UTSW	15	82390138	missense	probably benign
R7194:Cyp2d11	UTSW	15	82391768	missense	probably benign
R8097:Cyp2d11	UTSW	15	82390380	critical splice donor site	probably null
R8122:Cyp2d11	UTSW	15	82392543	missense	probably benign	0.27
R8152:Cyp2d11	UTSW	15	82392487	missense	probably benign
R8531:Cyp2d11	UTSW	15	82389228	missense	probably benign
R8894:Cyp2d11	UTSW	15	82390470	missense	probably benign	0.22
R8905:Cyp2d11	UTSW	15	82390901	missense	probably benign	0.00
R9112:Cyp2d11	UTSW	15	82392002	missense	possibly damaging	0.94
Z1088:Cyp2d11	UTSW	15	82390111	missense	probably damaging	0.99
Z1177:Cyp2d11	UTSW	15	82392499	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACCATGGTAAGGACTGAGGC -3'
(R):5'- TGTCCTGGGAACAATGGGAG -3'

Sequencing Primer
(F):5'- TGGTAAGGACTGAGGCGATGTG -3'
(R):5'- TCACTCTATAGACCAGGCTGG -3'

Posted On

2020-07-13