Mutagenetix > Incidental Mutation

Incidental Mutation 'R9245:Cyp2d22'

701256

Institutional Source

Beutler Lab

Gene Symbol

Cyp2d22

Ensembl Gene

ENSMUSG00000061740

Gene Name

cytochrome P450, family 2, subfamily d, polypeptide 22

Synonyms

2D22

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R9245 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82254728-82264461 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82256748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 342 (I342K)

Ref Sequence

ENSEMBL: ENSMUSP00000023083 (fasta)

Gene Model

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

AlphaFold

Q9JKY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000023083
AA Change: I342K

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023083
Gene: ENSMUSG00000061740
AA Change: I342K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228986
AA Change: I104K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	C	A	11: 77,406,312 (GRCm39)	H96Q	possibly damaging	Het
Ankhd1	A	G	18: 36,788,653 (GRCm39)	Q411R		Het
Ankrd34c	A	T	9: 89,610,940 (GRCm39)	V467E	probably damaging	Het
Apobr	A	T	7: 126,186,507 (GRCm39)	R673*	probably null	Het
Arhgap18	T	C	10: 26,722,107 (GRCm39)	V98A	possibly damaging	Het
Arhgap30	G	T	1: 171,235,957 (GRCm39)	W777L	possibly damaging	Het
Atp8a1	A	G	5: 67,779,977 (GRCm39)	Y1154H	unknown	Het
B3gntl1	A	G	11: 121,514,770 (GRCm39)	F299S	possibly damaging	Het
Baz2a	C	T	10: 127,957,812 (GRCm39)	T1055I	probably benign	Het
Baz2b	T	C	2: 59,743,331 (GRCm39)	M1547V	probably benign	Het
Bsn	T	C	9: 107,993,292 (GRCm39)	D820G	probably damaging	Het
Castor1	T	A	11: 4,170,485 (GRCm39)	N160K	probably damaging	Het
Ccdc57	A	G	11: 120,812,578 (GRCm39)	Y59H	probably damaging	Het
Crim1	T	A	17: 78,651,871 (GRCm39)	C532S	probably damaging	Het
Csmd2	A	C	4: 128,200,168 (GRCm39)	D451A		Het
Des	A	T	1: 75,343,406 (GRCm39)	T430S	probably benign	Het
Dnah17	C	T	11: 118,016,503 (GRCm39)	V283I	probably benign	Het
Dnah9	C	T	11: 65,786,731 (GRCm39)	G3634E	probably benign	Het
Dst	A	G	1: 34,228,943 (GRCm39)	S2179G	probably benign	Het
Elp1	C	A	4: 56,771,003 (GRCm39)	R980L	probably benign	Het
Esrp2	T	A	8: 106,858,775 (GRCm39)	T621S	possibly damaging	Het
Ext2	C	T	2: 93,534,836 (GRCm39)	V643I	probably benign	Het
Fastk	G	A	5: 24,649,172 (GRCm39)	P72S	probably benign	Het
Fbxo28	A	G	1: 182,145,566 (GRCm39)	I174T	possibly damaging	Het
Fstl3	C	T	10: 79,614,411 (GRCm39)	L38F	probably damaging	Het
Golgb1	C	T	16: 36,739,181 (GRCm39)	Q2548*	probably null	Het
Gstm3	T	C	3: 107,874,956 (GRCm39)	T99A	probably benign	Het
H2bc15	A	G	13: 21,938,369 (GRCm39)	D26G	unknown	Het
Hadh	T	C	3: 131,034,636 (GRCm39)	N220S	probably damaging	Het
Hnrnpab	T	C	11: 51,497,240 (GRCm39)	T51A	probably benign	Het
Immt	G	T	6: 71,823,350 (GRCm39)	W67L	probably benign	Het
Ints8	T	A	4: 11,213,811 (GRCm39)		probably null	Het
Ipo7	T	C	7: 109,643,826 (GRCm39)	V407A	probably damaging	Het
Kics2	A	T	10: 121,586,273 (GRCm39)	H196L	probably damaging	Het
Kif20b	T	C	19: 34,915,725 (GRCm39)	S501P	probably benign	Het
Krt39	T	G	11: 99,407,450 (GRCm39)	Q348P	probably damaging	Het
Lrp1b	T	A	2: 40,488,456 (GRCm39)	N4543I		Het
Macrod2	T	C	2: 141,652,534 (GRCm39)	V199A	probably benign	Het
Mast2	A	G	4: 116,167,701 (GRCm39)	V1052A	probably damaging	Het
Mfap4	T	C	11: 61,378,007 (GRCm39)	F149S	probably damaging	Het
Moap1	A	G	12: 102,708,526 (GRCm39)	V341A	unknown	Het
Mprip	G	T	11: 59,628,403 (GRCm39)	E283D	possibly damaging	Het
Mrgpra2a	A	G	7: 47,077,004 (GRCm39)	F85L	possibly damaging	Het
Mx1	T	A	16: 97,252,753 (GRCm39)		probably null	Het
Ndc80	A	T	17: 71,807,294 (GRCm39)	M554K	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Or52j3	A	T	7: 102,836,194 (GRCm39)	I129F	probably damaging	Het
Or5k1b	T	A	16: 58,581,126 (GRCm39)	K138*	probably null	Het
Or6c38	T	A	10: 128,929,472 (GRCm39)	I124F	probably damaging	Het
Pck1	C	T	2: 172,996,569 (GRCm39)	T161I	probably damaging	Het
Pclo	T	A	5: 14,726,959 (GRCm39)	M1939K	unknown	Het
Pcm1	T	A	8: 41,732,877 (GRCm39)	N711K	probably damaging	Het
Pkd2l1	A	G	19: 44,143,894 (GRCm39)	V393A	probably benign	Het
Pla2g15	G	T	8: 106,889,539 (GRCm39)	A229S	possibly damaging	Het
Plekhg1	G	A	10: 3,907,141 (GRCm39)	R741Q		Het
Plod1	A	G	4: 148,010,626 (GRCm39)	L275P	possibly damaging	Het
Plvap	G	T	8: 71,964,323 (GRCm39)	T13K	possibly damaging	Het
Plxna1	A	T	6: 89,314,320 (GRCm39)	I707N	probably damaging	Het
Pnma8b	A	G	7: 16,680,843 (GRCm39)	E609G	probably benign	Het
Ptger4	C	T	15: 5,273,193 (GRCm39)		probably benign	Het
Qars1	G	T	9: 108,386,132 (GRCm39)	E108*	probably null	Het
Rfpl4	C	A	7: 5,113,840 (GRCm39)	D114Y	probably damaging	Het
Rint1	A	G	5: 24,010,411 (GRCm39)	T207A	probably benign	Het
Rxfp1	A	G	3: 79,552,261 (GRCm39)	I680T	probably benign	Het
Skint2	A	T	4: 112,502,616 (GRCm39)	K275N	probably benign	Het
Slc29a3	A	G	10: 60,559,755 (GRCm39)	V133A	possibly damaging	Het
Slc9a2	A	G	1: 40,805,460 (GRCm39)	K680E	probably benign	Het
Smc1b	A	T	15: 85,004,846 (GRCm39)	F409L	probably benign	Het
Sos2	A	T	12: 69,695,239 (GRCm39)	M166K	probably damaging	Het
Spata31h1	T	C	10: 82,123,554 (GRCm39)	D3152G	probably benign	Het
Tead1	A	G	7: 112,358,723 (GRCm39)	I12V	probably benign	Het
Tead3	C	A	17: 28,551,709 (GRCm39)	K461N	probably benign	Het
Tex12	C	A	9: 50,468,772 (GRCm39)	A83S	probably damaging	Het
Top6bl	T	G	19: 4,746,068 (GRCm39)	K199Q	possibly damaging	Het
Ttc28	A	G	5: 111,325,525 (GRCm39)	T319A	unknown	Het
Ttn	T	C	2: 76,728,593 (GRCm39)	I5496V	unknown	Het
Tubb4a	T	A	17: 57,387,959 (GRCm39)	I356F	possibly damaging	Het
Txk	A	T	5: 72,891,610 (GRCm39)	W119R	probably damaging	Het
Txnl4a	A	T	18: 80,261,937 (GRCm39)	I58F	probably benign	Het
Uba6	A	T	5: 86,318,418 (GRCm39)	Y44N	probably damaging	Het
Usp40	T	C	1: 87,878,009 (GRCm39)	T1093A	probably benign	Het
Vmn1r194	T	C	13: 22,428,731 (GRCm39)	I116T	probably benign	Het
Vmn2r14	A	G	5: 109,368,176 (GRCm39)	M272T	possibly damaging	Het
Vmn2r85	C	A	10: 130,255,033 (GRCm39)	M550I	possibly damaging	Het
Vmn2r85	C	A	10: 130,261,534 (GRCm39)	V268F	probably damaging	Het
Vwa5b2	T	A	16: 20,416,890 (GRCm39)	V529E	probably damaging	Het
Zfp141	A	T	7: 42,124,821 (GRCm39)	Y550*	probably null	Het
Zik1	G	A	7: 10,224,156 (GRCm39)	L314F	probably damaging	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
R6146:Cyp2d22	UTSW	15	82,258,036 (GRCm39)	critical splice acceptor site	probably null
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
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'- TCTTAAGTGGACAGCTCAGGC -3'
(R):5'- AGGACATTTGTGGCTCCCAG -3'

Sequencing Primer
(F):5'- ACTAGACATTGGAGGGTCCC -3'
(R):5'- GCACTCCAGCAAGGACAATGG -3'

Posted On

2022-03-25