Mutagenetix > Incidental Mutation

Incidental Mutation 'R1718:Cyp2d12'

191230

Institutional Source

Beutler Lab

Gene Symbol

Cyp2d12

Ensembl Gene

ENSMUSG00000096852

Gene Name

cytochrome P450, family 2, subfamily d, polypeptide 12

Synonyms

9030605E09Rik

MMRRC Submission

039751-MU

Accession Numbers

Essential gene?

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

Stock #

R1718 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82439244-82443614 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82442251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 244 (D244E)

Ref Sequence

ENSEMBL: ENSMUSP00000154856 (fasta)

Gene Model

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

AlphaFold

Q8BVD2

Predicted Effect

probably benign
Transcript: ENSMUST00000068861
AA Change: D295E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071064
Gene: ENSMUSG00000096852
AA Change: D295E

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 benign
Transcript: ENSMUST00000229904
AA Change: D244E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230859

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	G	T	13: 77,393,489 (GRCm39)		probably benign	Het
Acot3	T	G	12: 84,100,717 (GRCm39)		probably null	Het
Acox1	A	T	11: 116,065,508 (GRCm39)	C523*	probably null	Het
Adamts19	G	A	18: 59,105,897 (GRCm39)	C764Y	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,250,976 (GRCm39)		probably null	Het
Apob	A	G	12: 8,066,087 (GRCm39)	K4319R	probably benign	Het
AU016765	A	C	17: 64,862,433 (GRCm39)		noncoding transcript	Het
Bpifb1	T	A	2: 154,055,903 (GRCm39)		probably null	Het
Btn2a2	A	G	13: 23,666,106 (GRCm39)	V242A	probably benign	Het
Camta1	A	G	4: 151,168,481 (GRCm39)	S1281P	probably benign	Het
Ccdc116	T	C	16: 16,959,772 (GRCm39)	K306E	probably benign	Het
Cemip	A	G	7: 83,584,866 (GRCm39)	V1350A	probably benign	Het
Clip2	A	T	5: 134,531,783 (GRCm39)	L674*	probably null	Het
Cyp4x1	A	G	4: 114,968,867 (GRCm39)	V379A	possibly damaging	Het
Dnah9	T	A	11: 66,058,905 (GRCm39)	H130L	possibly damaging	Het
Enpp7	A	G	11: 118,881,809 (GRCm39)	Y318C	probably damaging	Het
Fras1	A	T	5: 96,702,748 (GRCm39)		probably null	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm28042	T	A	2: 119,866,872 (GRCm39)	S172T	possibly damaging	Het
Gm7808	T	A	9: 19,839,299 (GRCm39)		probably benign	Het
Gpr61	C	T	3: 108,057,696 (GRCm39)	V322M	possibly damaging	Het
H2-T5	A	G	17: 36,472,676 (GRCm39)		probably benign	Het
Hapln3	A	G	7: 78,773,198 (GRCm39)	V15A	unknown	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Klk1b4	A	G	7: 43,859,096 (GRCm39)	Y38C	probably damaging	Het
Lrrfip1	A	G	1: 91,043,277 (GRCm39)	K561E	probably damaging	Het
Map3k1	A	G	13: 111,891,953 (GRCm39)	C1101R	probably benign	Het
Mcoln2	A	G	3: 145,896,229 (GRCm39)		probably benign	Het
Mfsd2b	G	A	12: 4,919,037 (GRCm39)	T73I	probably damaging	Het
Mfsd4b5	C	T	10: 39,851,199 (GRCm39)	V19I	probably benign	Het
Mgme1	T	A	2: 144,114,238 (GRCm39)	D113E	probably benign	Het
Mki67	A	G	7: 135,297,223 (GRCm39)	S2604P	probably damaging	Het
Mob3c	A	G	4: 115,688,841 (GRCm39)	I125V	probably benign	Het
Mrps9	G	A	1: 42,942,559 (GRCm39)	R339H	probably damaging	Het
Ndst1	T	C	18: 60,840,875 (GRCm39)	D269G	probably damaging	Het
Nedd9	T	C	13: 41,492,402 (GRCm39)	N30S	probably damaging	Het
Notch4	G	A	17: 34,795,737 (GRCm39)		probably benign	Het
Or5ak25	T	C	2: 85,269,149 (GRCm39)	M118V	probably benign	Het
Or5t15	A	T	2: 86,681,531 (GRCm39)	N170K	probably benign	Het
Or8b9	G	A	9: 37,766,749 (GRCm39)	V212I	probably benign	Het
Or8c10	A	G	9: 38,278,890 (GRCm39)	D6G	probably benign	Het
Papss1	C	A	3: 131,324,946 (GRCm39)	R447S	probably damaging	Het
Pla2g4a	C	T	1: 149,747,274 (GRCm39)		probably benign	Het
Rab11fip2	A	G	19: 59,924,081 (GRCm39)	F266L	probably damaging	Het
Ralgapb	T	A	2: 158,285,200 (GRCm39)	Y554*	probably null	Het
Rem2	T	C	14: 54,716,607 (GRCm39)	V240A	probably damaging	Het
Retsat	T	C	6: 72,579,654 (GRCm39)	V143A	probably benign	Het
Rnf141	G	T	7: 110,420,480 (GRCm39)	Q175K	probably damaging	Het
Rtcb	C	A	10: 85,777,881 (GRCm39)	G431V	probably damaging	Het
Slc7a6os	A	G	8: 106,930,971 (GRCm39)	W222R	probably damaging	Het
Smarcc2	T	C	10: 128,304,867 (GRCm39)		probably benign	Het
Smchd1	A	T	17: 71,755,828 (GRCm39)	Y218N	possibly damaging	Het
Sp110	G	A	1: 85,522,106 (GRCm39)	H66Y	probably benign	Het
Speg	G	A	1: 75,394,507 (GRCm39)	E1739K	probably benign	Het
Speg	A	G	1: 75,398,388 (GRCm39)	Q1945R	possibly damaging	Het
Sprtn	T	C	8: 125,625,096 (GRCm39)	V67A	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tnks1bp1	G	T	2: 84,902,082 (GRCm39)	E997D	probably benign	Het
Tti1	A	T	2: 157,850,144 (GRCm39)	V365E	probably benign	Het
Tulp4	A	G	17: 6,272,715 (GRCm39)	I590V	probably benign	Het
Vmn2r61	A	G	7: 41,950,121 (GRCm39)	D847G	probably benign	Het
Zfp184	A	G	13: 22,143,442 (GRCm39)	T383A	possibly damaging	Het
Zik1	T	A	7: 10,226,268 (GRCm39)	E33V	probably damaging	Het
Zik1	C	A	7: 10,226,269 (GRCm39)	E33*	probably null	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
R1517:Cyp2d12	UTSW	15	82,442,337 (GRCm39)	missense	probably damaging	1.00
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'- TCACCCCGAAATTTGACTGATGCC -3'
(R):5'- AGCCACAATCAACTGACTGGGGAC -3'

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

Posted On

2014-05-14