Mutagenetix > Incidental Mutation

Incidental Mutation 'R1517:Cyp2d12'

167132

Institutional Source

Beutler Lab

Gene Symbol

Cyp2d12

Ensembl Gene

ENSMUSG00000096852

Gene Name

cytochrome P450, family 2, subfamily d, polypeptide 12

Synonyms

9030605E09Rik

MMRRC Submission

039563-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R1517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82439244-82443614 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 82442337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 273 (M273R)

Ref Sequence

ENSEMBL: ENSMUSP00000154856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068861] [ENSMUST00000228974] [ENSMUST00000229103] [ENSMUST00000229904]

AlphaFold

Q8BVD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000068861
AA Change: M324R

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

SMART Domains

Protein: ENSMUSP00000071064
Gene: ENSMUSG00000096852
AA Change: M324R

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC
Pfam:p450	37	497	3.6e-143	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184191

Predicted Effect

probably benign
Transcript: ENSMUST00000228974

Predicted Effect

probably benign
Transcript: ENSMUST00000229103

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229792

Predicted Effect

probably damaging
Transcript: ENSMUST00000229904
AA Change: M273R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229988

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,862,640 (GRCm39)	K375R	possibly damaging	Het
Adrb2	T	C	18: 62,311,871 (GRCm39)	N318S	probably damaging	Het
Akap5	A	C	12: 76,376,036 (GRCm39)	E489D	possibly damaging	Het
Aldh7a1	T	A	18: 56,665,133 (GRCm39)	I385F	probably damaging	Het
Astn1	T	A	1: 158,407,146 (GRCm39)		probably benign	Het
Atp7b	T	A	8: 22,487,374 (GRCm39)	T1314S	probably damaging	Het
Bhmt2	C	A	13: 93,798,847 (GRCm39)	G325C	probably damaging	Het
Brpf1	T	A	6: 113,296,050 (GRCm39)	V781E	probably benign	Het
Cacna1c	T	A	6: 118,575,720 (GRCm39)	Y1860F	probably benign	Het
Ccdc7a	T	C	8: 129,788,162 (GRCm39)	T56A	probably damaging	Het
Cep78	A	G	19: 15,937,027 (GRCm39)	S560P	probably damaging	Het
Cnot1	G	A	8: 96,469,841 (GRCm39)	T1343I	probably benign	Het
Coq10b	T	C	1: 55,103,416 (GRCm39)	S65P	probably damaging	Het
Creld1	T	A	6: 113,466,745 (GRCm39)	C243S	probably damaging	Het
Cst12	A	T	2: 148,635,172 (GRCm39)	I121F	possibly damaging	Het
Cyp26a1	A	C	19: 37,687,308 (GRCm39)	E165A	probably benign	Het
Dnajb7	T	A	15: 81,291,657 (GRCm39)	S227C	probably damaging	Het
Evc	T	A	5: 37,476,379 (GRCm39)	Q390L	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,970 (GRCm39)	L351*	probably null	Het
Fga	T	C	3: 82,939,145 (GRCm39)	S507P	probably benign	Het
Gba1	A	T	3: 89,113,455 (GRCm39)	Y239F	probably damaging	Het
Golga2	C	A	2: 32,195,996 (GRCm39)	Y843*	probably null	Het
Gria4	C	A	9: 4,793,865 (GRCm39)	L64F	probably damaging	Het
Hectd3	A	G	4: 116,860,191 (GRCm39)	Y803C	probably damaging	Het
Hmcn1	T	C	1: 150,545,172 (GRCm39)	K2812E	probably damaging	Het
Il17b	T	G	18: 61,823,316 (GRCm39)	V50G	probably damaging	Het
Itga2b	A	T	11: 102,357,151 (GRCm39)	L243*	probably null	Het
Kank4	C	A	4: 98,667,266 (GRCm39)	V394L	possibly damaging	Het
Kat14	T	A	2: 144,215,711 (GRCm39)	D65E	probably benign	Het
Kcnh3	T	C	15: 99,136,090 (GRCm39)	Y696H	probably damaging	Het
Kctd19	C	A	8: 106,122,008 (GRCm39)	D180Y	probably damaging	Het
Klra8	A	C	6: 130,092,603 (GRCm39)	S233A	probably benign	Het
Masp2	A	T	4: 148,696,563 (GRCm39)	T387S	possibly damaging	Het
Midn	C	A	10: 79,989,957 (GRCm39)	T275N	probably damaging	Het
Mis18bp1	A	G	12: 65,180,587 (GRCm39)	F965L	probably benign	Het
Myo3a	G	T	2: 22,287,445 (GRCm39)	V186L	probably damaging	Het
Ncoa2	T	A	1: 13,235,281 (GRCm39)	N884I	probably benign	Het
Or10d4	T	C	9: 39,581,016 (GRCm39)	I221T	probably damaging	Het
Or13c25	A	T	4: 52,911,502 (GRCm39)	C97*	probably null	Het
Or8k35	T	A	2: 86,424,948 (GRCm39)	T75S	probably damaging	Het
Osr2	T	C	15: 35,300,813 (GRCm39)	V123A	probably benign	Het
P4ha2	A	G	11: 54,008,471 (GRCm39)	H226R	probably benign	Het
Pcdhb16	T	A	18: 37,611,151 (GRCm39)	V37E	probably benign	Het
Pcdhb18	T	A	18: 37,622,673 (GRCm39)	M1K	probably null	Het
Pcsk1	T	A	13: 75,246,166 (GRCm39)	Y181*	probably null	Het
Pros1	G	T	16: 62,705,875 (GRCm39)	C63F	probably damaging	Het
Ranbp3l	T	A	15: 9,065,081 (GRCm39)	C353*	probably null	Het
Rev3l	T	C	10: 39,714,439 (GRCm39)	Y2388H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rpl12-ps1	G	T	1: 36,997,458 (GRCm39)		noncoding transcript	Het
Rttn	T	C	18: 89,131,474 (GRCm39)	V1951A	probably benign	Het
Scn9a	G	A	2: 66,335,371 (GRCm39)		probably benign	Het
Sdk1	T	C	5: 142,113,591 (GRCm39)	F1546S	probably damaging	Het
Sh3glb2	C	T	2: 30,244,987 (GRCm39)	R71Q	probably damaging	Het
Slc30a6	T	C	17: 74,715,842 (GRCm39)	F101L	probably benign	Het
Snrpd1	T	C	18: 10,626,913 (GRCm39)	I60T	probably damaging	Het
Sox10	T	A	15: 79,043,378 (GRCm39)	E218D	probably benign	Het
Tekt3	C	A	11: 62,961,316 (GRCm39)	H162N	probably damaging	Het
Tnfsf13	T	C	11: 69,575,564 (GRCm39)	S246G	possibly damaging	Het
Trim10	T	A	17: 37,183,346 (GRCm39)	I214N	probably damaging	Het
Trp63	C	A	16: 25,708,003 (GRCm39)	D566E	probably damaging	Het
Uck2	T	C	1: 167,062,293 (GRCm39)	D156G	probably damaging	Het
Zfp386	T	A	12: 116,023,225 (GRCm39)	S314R	possibly damaging	Het
Zfp467	C	T	6: 48,415,170 (GRCm39)	R494H	probably damaging	Het
Zfp735	A	T	11: 73,601,470 (GRCm39)	D138V	probably benign	Het
Zfyve26	T	C	12: 79,298,925 (GRCm39)	E445G	probably damaging	Het

Other mutations in Cyp2d12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01959:Cyp2d12	APN	15	82,439,545 (GRCm39)	splice site	probably benign
IGL02318:Cyp2d12	APN	15	82,439,444 (GRCm39)	missense	probably benign	0.33
IGL02353:Cyp2d12	APN	15	82,443,171 (GRCm39)	missense	probably benign	0.02
IGL02360:Cyp2d12	APN	15	82,443,171 (GRCm39)	missense	probably benign	0.02
IGL02491:Cyp2d12	APN	15	82,442,682 (GRCm39)	missense	possibly damaging	0.88
IGL02651:Cyp2d12	APN	15	82,440,941 (GRCm39)	missense	probably damaging	0.99
IGL02664:Cyp2d12	APN	15	82,443,535 (GRCm39)	missense	probably benign
IGL03169:Cyp2d12	APN	15	82,443,492 (GRCm39)	missense	probably benign	0.00
IGL03354:Cyp2d12	APN	15	82,443,162 (GRCm39)	missense	probably damaging	1.00
PIT4581001:Cyp2d12	UTSW	15	82,442,652 (GRCm39)	missense	probably damaging	1.00
R0426:Cyp2d12	UTSW	15	82,443,164 (GRCm39)	missense	probably benign	0.12
R0578:Cyp2d12	UTSW	15	82,440,584 (GRCm39)	splice site	probably benign
R1297:Cyp2d12	UTSW	15	82,441,887 (GRCm39)	missense	probably benign	0.31
R1718:Cyp2d12	UTSW	15	82,442,251 (GRCm39)	missense	probably benign	0.00
R1829:Cyp2d12	UTSW	15	82,442,257 (GRCm39)	missense	possibly damaging	0.87
R2208:Cyp2d12	UTSW	15	82,441,137 (GRCm39)	missense	probably damaging	1.00
R2366:Cyp2d12	UTSW	15	82,439,355 (GRCm39)	missense	probably damaging	1.00
R2385:Cyp2d12	UTSW	15	82,442,696 (GRCm39)	missense	probably benign	0.00
R2504:Cyp2d12	UTSW	15	82,443,237 (GRCm39)	missense	probably benign	0.06
R4009:Cyp2d12	UTSW	15	82,440,493 (GRCm39)	missense	probably damaging	1.00
R4940:Cyp2d12	UTSW	15	82,442,251 (GRCm39)	missense	probably benign	0.00
R5237:Cyp2d12	UTSW	15	82,442,207 (GRCm39)	splice site	probably null
R5327:Cyp2d12	UTSW	15	82,439,423 (GRCm39)	missense	probably benign	0.00
R5549:Cyp2d12	UTSW	15	82,440,498 (GRCm39)	missense	probably benign	0.23
R6128:Cyp2d12	UTSW	15	82,443,166 (GRCm39)	missense	probably benign
R6275:Cyp2d12	UTSW	15	82,440,859 (GRCm39)	missense	probably benign	0.00
R6723:Cyp2d12	UTSW	15	82,441,085 (GRCm39)	missense	probably benign
R6808:Cyp2d12	UTSW	15	82,440,934 (GRCm39)	missense	probably damaging	1.00
R6947:Cyp2d12	UTSW	15	82,443,248 (GRCm39)	missense	probably benign
R7137:Cyp2d12	UTSW	15	82,442,022 (GRCm39)	missense	probably benign	0.42
R7224:Cyp2d12	UTSW	15	82,441,849 (GRCm39)	splice site	probably null
R7513:Cyp2d12	UTSW	15	82,442,621 (GRCm39)	missense	probably benign
R7698:Cyp2d12	UTSW	15	82,443,171 (GRCm39)	missense	probably benign	0.02
R7753:Cyp2d12	UTSW	15	82,441,164 (GRCm39)	missense	possibly damaging	0.68
R8465:Cyp2d12	UTSW	15	82,439,378 (GRCm39)	missense	possibly damaging	0.46
R8965:Cyp2d12	UTSW	15	82,443,186 (GRCm39)	missense	possibly damaging	0.87
R9031:Cyp2d12	UTSW	15	82,443,423 (GRCm39)	missense	probably null	0.02
R9286:Cyp2d12	UTSW	15	82,443,403 (GRCm39)	missense	probably damaging	1.00
R9296:Cyp2d12	UTSW	15	82,440,435 (GRCm39)	nonsense	probably null
X0065:Cyp2d12	UTSW	15	82,442,029 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGATGCCTTCCTGGCAGAGATAGAG -3'
(R):5'- GGGTTGAGGCCATGTCAGAAACAC -3'

Sequencing Primer
(F):5'- TGGCAGCTCCAAGACTTTTAG -3'
(R):5'- TGTCAGAAACACCAGTGAGC -3'

Posted On

2014-04-13