Mutagenetix > Incidental Mutation

Incidental Mutation 'R6146:Cyp2d22'

488906

Institutional Source

Beutler Lab

Gene Symbol

Cyp2d22

Ensembl Gene

ENSMUSG00000061740

Gene Name

cytochrome P450, family 2, subfamily d, polypeptide 22

Synonyms

2D22

MMRRC Submission

044293-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R6146 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82254728-82264461 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 82258036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023083] [ENSMUST00000228986]

AlphaFold

Q9JKY7

Predicted Effect

probably null
Transcript: ENSMUST00000023083

SMART Domains

Protein: ENSMUSP00000023083
Gene: ENSMUSG00000061740

Domain	Start	End	E-Value	Type
transmembrane domain	9	28	N/A	INTRINSIC
Pfam:p450	37	497	8.1e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000228986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229438

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229599

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230663

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 8,946,587 (GRCm39)	E29G	probably benign	Het
Abi3bp	T	C	16: 56,491,628 (GRCm39)	S552P	probably damaging	Het
Adgrg7	A	G	16: 56,593,829 (GRCm39)	I129T	probably benign	Het
Adhfe1	A	G	1: 9,623,943 (GRCm39)	N148S	probably damaging	Het
AI182371	A	G	2: 34,987,983 (GRCm39)	Y77H	probably damaging	Het
Aldh5a1	C	T	13: 25,103,661 (GRCm39)		probably null	Het
Ankrd2	A	G	19: 42,028,544 (GRCm39)	T67A	possibly damaging	Het
Anln	A	T	9: 22,287,604 (GRCm39)	C232*	probably null	Het
Cchcr1	A	G	17: 35,839,475 (GRCm39)	D587G	possibly damaging	Het
Cgn	G	T	3: 94,674,435 (GRCm39)	Q901K	possibly damaging	Het
Cip2a	A	T	16: 48,814,692 (GRCm39)	K18*	probably null	Het
Cluh	G	T	11: 74,558,054 (GRCm39)		probably null	Het
Crebbp	G	A	16: 3,902,487 (GRCm39)	Q2213*	probably null	Het
Dcdc2a	T	C	13: 25,389,440 (GRCm39)	V456A	probably benign	Het
Depdc5	A	G	5: 33,126,075 (GRCm39)	E569G	probably benign	Het
Dnah5	T	C	15: 28,459,331 (GRCm39)	F4517L	probably benign	Het
Doc2b	T	C	11: 75,664,421 (GRCm39)	K317E	probably damaging	Het
Dysf	T	A	6: 84,180,181 (GRCm39)	D1951E	probably damaging	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
F2rl2	A	C	13: 95,837,149 (GRCm39)	I65L	probably benign	Het
Fbxw17	A	G	13: 50,586,548 (GRCm39)	K417E	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fxr2	A	G	11: 69,532,165 (GRCm39)	M96V	possibly damaging	Het
Kcnj10	C	A	1: 172,196,892 (GRCm39)	Y135*	probably null	Het
Kidins220	G	A	12: 25,102,812 (GRCm39)	R1238Q	probably damaging	Het
Krt31	T	C	11: 99,939,056 (GRCm39)	N255S	probably benign	Het
Lrp2	T	C	2: 69,341,345 (GRCm39)	D945G	probably benign	Het
Lrrc66	T	C	5: 73,765,432 (GRCm39)	D537G	probably benign	Het
Ltbp4	T	A	7: 27,019,149 (GRCm39)	I992F	probably damaging	Het
Lzts1	A	G	8: 69,593,524 (GRCm39)	S28P	probably benign	Het
Mrc2	C	A	11: 105,216,470 (GRCm39)	N86K	probably damaging	Het
Mroh6	C	A	15: 75,758,486 (GRCm39)	A302S	possibly damaging	Het
Muc16	T	A	9: 18,409,093 (GRCm39)	N198Y	probably damaging	Het
Myo9a	T	C	9: 59,778,512 (GRCm39)	S1423P	probably benign	Het
Or10ag58	A	T	2: 87,265,662 (GRCm39)	D277V	possibly damaging	Het
Or2b28	A	T	13: 21,531,164 (GRCm39)	Y22F	possibly damaging	Het
Or5h22	A	G	16: 58,895,077 (GRCm39)	V122A	probably benign	Het
Or5p56	G	T	7: 107,589,620 (GRCm39)	G16V	probably damaging	Het
Or5w17	A	C	2: 87,583,602 (GRCm39)	L245R	probably damaging	Het
Or9g4	T	A	2: 85,504,938 (GRCm39)	K186*	probably null	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Polg	T	C	7: 79,100,260 (GRCm39)	M1184V	probably benign	Het
Prl8a8	T	C	13: 27,694,463 (GRCm39)	Y108C	probably damaging	Het
Proser1	T	A	3: 53,385,540 (GRCm39)	I474N	probably damaging	Het
Rab44	A	G	17: 29,354,391 (GRCm39)		probably benign	Het
Rbp1	C	A	9: 98,307,669 (GRCm39)	D79E	possibly damaging	Het
Rnf213	T	C	11: 119,326,825 (GRCm39)	V1605A	probably benign	Het
Rps24	A	T	14: 24,540,803 (GRCm39)		probably null	Het
Setd5	T	C	6: 113,098,773 (GRCm39)		probably null	Het
Skic3	A	G	13: 76,333,359 (GRCm39)	E1536G	probably damaging	Het
Slc38a3	T	C	9: 107,532,228 (GRCm39)	I435V	probably benign	Het
Slco1a5	T	A	6: 142,180,534 (GRCm39)	M623L	probably benign	Het
Spaca9	G	A	2: 28,583,793 (GRCm39)	R64W	probably damaging	Het
Spn	A	G	7: 126,735,479 (GRCm39)	S343P	possibly damaging	Het
Sptan1	A	G	2: 29,894,535 (GRCm39)	T1168A	probably benign	Het
Sptbn4	A	T	7: 27,064,012 (GRCm39)	L2138*	probably null	Het
Tg	T	A	15: 66,545,216 (GRCm39)		probably null	Het
Tigd5	T	A	15: 75,782,094 (GRCm39)	L152Q	probably damaging	Het
Tmem163	C	T	1: 127,447,126 (GRCm39)	V170I	probably benign	Het
Tpr	T	C	1: 150,298,913 (GRCm39)	C1068R	possibly damaging	Het
Ubr1	A	T	2: 120,723,690 (GRCm39)	Y1290N	probably damaging	Het
Vmn1r184	T	A	7: 25,966,817 (GRCm39)	F188I	probably benign	Het
Vmn2r100	G	A	17: 19,742,522 (GRCm39)	V299I	probably benign	Het
Vmn2r91	T	G	17: 18,356,518 (GRCm39)	H728Q	probably benign	Het
Vta1	T	C	10: 14,581,096 (GRCm39)	Y37C	probably damaging	Het
Wbp2	C	A	11: 115,974,728 (GRCm39)	M35I	probably benign	Het
Zcchc9	G	A	13: 91,953,986 (GRCm39)	Q90*	probably null	Het

Other mutations in Cyp2d22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Cyp2d22	APN	15	82,255,869 (GRCm39)	missense	probably damaging	1.00
IGL01750:Cyp2d22	APN	15	82,258,570 (GRCm39)	missense	probably benign	0.12
IGL01801:Cyp2d22	APN	15	82,257,046 (GRCm39)	missense	probably benign	0.41
IGL02449:Cyp2d22	APN	15	82,257,442 (GRCm39)	missense	probably benign	0.00
ANU22:Cyp2d22	UTSW	15	82,255,869 (GRCm39)	missense	probably damaging	1.00
R0165:Cyp2d22	UTSW	15	82,257,481 (GRCm39)	missense	probably benign	0.06
R0294:Cyp2d22	UTSW	15	82,258,646 (GRCm39)	missense	possibly damaging	0.86
R1381:Cyp2d22	UTSW	15	82,256,709 (GRCm39)	missense	probably benign	0.00
R1479:Cyp2d22	UTSW	15	82,256,137 (GRCm39)	missense	probably damaging	0.97
R1562:Cyp2d22	UTSW	15	82,258,179 (GRCm39)	missense	probably damaging	0.99
R1968:Cyp2d22	UTSW	15	82,257,373 (GRCm39)	missense	probably benign	0.04
R1972:Cyp2d22	UTSW	15	82,260,028 (GRCm39)	missense	probably benign	0.11
R4492:Cyp2d22	UTSW	15	82,258,571 (GRCm39)	missense	probably benign	0.00
R4575:Cyp2d22	UTSW	15	82,256,133 (GRCm39)	missense	possibly damaging	0.94
R4702:Cyp2d22	UTSW	15	82,260,118 (GRCm39)	missense	probably damaging	1.00
R4703:Cyp2d22	UTSW	15	82,260,118 (GRCm39)	missense	probably damaging	1.00
R5344:Cyp2d22	UTSW	15	82,255,839 (GRCm39)	missense	possibly damaging	0.95
R5523:Cyp2d22	UTSW	15	82,256,772 (GRCm39)	missense	probably damaging	1.00
R5888:Cyp2d22	UTSW	15	82,258,014 (GRCm39)	missense	probably benign
R6060:Cyp2d22	UTSW	15	82,260,086 (GRCm39)	missense	probably benign	0.00
R6108:Cyp2d22	UTSW	15	82,256,106 (GRCm39)	missense	possibly damaging	0.59
R6279:Cyp2d22	UTSW	15	82,258,169 (GRCm39)	missense	probably damaging	1.00
R6563:Cyp2d22	UTSW	15	82,256,113 (GRCm39)	missense	probably damaging	1.00
R7597:Cyp2d22	UTSW	15	82,260,053 (GRCm39)	missense	probably damaging	1.00
R7709:Cyp2d22	UTSW	15	82,258,612 (GRCm39)	missense	possibly damaging	0.88
R7839:Cyp2d22	UTSW	15	82,256,772 (GRCm39)	missense	probably damaging	1.00
R8094:Cyp2d22	UTSW	15	82,258,556 (GRCm39)	missense	probably benign	0.19
R8302:Cyp2d22	UTSW	15	82,256,021 (GRCm39)	critical splice donor site	probably null
R8515:Cyp2d22	UTSW	15	82,258,113 (GRCm39)	missense	probably benign	0.27
R9245:Cyp2d22	UTSW	15	82,256,748 (GRCm39)	missense	probably damaging	0.97
R9323:Cyp2d22	UTSW	15	82,258,207 (GRCm39)	missense	probably damaging	1.00
R9521:Cyp2d22	UTSW	15	82,256,688 (GRCm39)	missense	probably damaging	1.00
Z1186:Cyp2d22	UTSW	15	82,260,086 (GRCm39)	missense	probably benign	0.00
Z1190:Cyp2d22	UTSW	15	82,260,086 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACACCATGGGTAGGAATCC -3'
(R):5'- TAAGTGTGGCCCTCCAGGTATAG -3'

Sequencing Primer
(F):5'- ACCATGGGTAGGAATCCAGCTTC -3'
(R):5'- CCAGGTATAGTCCTAGCACGGTATG -3'

Posted On

2017-10-10