Mutagenetix > Incidental Mutation

Incidental Mutation 'R0165:Cyp2d22'

24128

Institutional Source

Beutler Lab

Gene Symbol

Cyp2d22

Ensembl Gene

ENSMUSG00000061740

Gene Name

cytochrome P450, family 2, subfamily d, polypeptide 22

Synonyms

2D22

MMRRC Submission

038441-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R0165 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

82370527-82380260 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 82373280 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 228 (N228T)

Ref Sequence

ENSEMBL: ENSMUSP00000023083 (fasta)

Gene Model

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

AlphaFold

Q9JKY7

Predicted Effect

probably benign
Transcript: ENSMUST00000023083
AA Change: N228T

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000023083
Gene: ENSMUSG00000061740
AA Change: N228T

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

Meta Mutation Damage Score

0.2747

Coding Region Coverage

1x: 99.4%
3x: 98.5%
10x: 96.2%
20x: 91.4%

Validation Efficiency

96% (81/84)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,216,382	V1413M	probably damaging	Het
2700049A03Rik	T	C	12: 71,167,150	I717T	possibly damaging	Het
3632451O06Rik	A	G	14: 49,773,786	S155P	probably benign	Het
6430571L13Rik	A	G	9: 107,346,184		probably benign	Het
Abca15	T	A	7: 120,350,903		probably benign	Het
Abca6	A	G	11: 110,219,604	V573A	possibly damaging	Het
Adgrl2	A	G	3: 148,852,863		probably benign	Het
Agap3	A	G	5: 24,479,745	T544A	probably damaging	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
Akr1c20	T	C	13: 4,523,296	T7A	probably benign	Het
Ankrd26	A	G	6: 118,540,484	S459P	probably benign	Het
Ascc3	T	A	10: 50,842,127		probably null	Het
Brd1	T	C	15: 88,729,777	N305S	probably damaging	Het
Catip	T	A	1: 74,368,469	L320Q	possibly damaging	Het
Cttnbp2	G	A	6: 18,435,410	Q150*	probably null	Het
Dapk1	T	C	13: 60,761,593	V1340A	probably benign	Het
Dcaf4	G	A	12: 83,535,988		probably benign	Het
Ddhd1	G	A	14: 45,595,592	T849M	probably damaging	Het
Dnah6	A	G	6: 73,021,323	S3987P	probably benign	Het
Dst	C	A	1: 34,154,646		probably benign	Het
Epha2	T	C	4: 141,321,892		probably null	Het
Ern2	T	C	7: 122,179,779	T281A	probably benign	Het
Extl1	A	G	4: 134,357,703	F652S	probably damaging	Het
Gckr	A	G	5: 31,326,948	S541G	possibly damaging	Het
Gdap1l1	A	G	2: 163,451,499		probably null	Het
Gm7535	T	C	17: 17,911,175		probably benign	Het
Gmps	T	A	3: 63,993,954	I398N	probably damaging	Het
Igf2r	A	G	17: 12,698,527	V1556A	probably benign	Het
Il3ra	T	A	14: 14,350,967	N283K	probably benign	Het
Ist1	A	G	8: 109,675,366		probably benign	Het
Lama3	A	T	18: 12,524,810	I1934F	probably damaging	Het
Lars	A	T	18: 42,202,697	M1118K	possibly damaging	Het
Lpin2	C	T	17: 71,246,519	S846L	probably damaging	Het
Lrrc4b	C	A	7: 44,462,315	T537K	probably damaging	Het
Ltn1	G	A	16: 87,405,519		probably benign	Het
Meiob	A	G	17: 24,835,161	T401A	probably benign	Het
Mettl21e	G	A	1: 44,211,123	T41M	probably damaging	Het
Miga1	C	T	3: 152,290,843	E323K	probably damaging	Het
Ndufs1	A	T	1: 63,159,748		probably null	Het
Olfr486	T	C	7: 108,172,675	D23G	probably benign	Het
Otog	G	A	7: 46,304,231	V2638M	probably damaging	Het
Parp6	T	C	9: 59,632,925	Y274H	probably damaging	Het
Prom2	A	T	2: 127,539,514		probably benign	Het
Prune2	T	A	19: 17,122,610	M1826K	probably benign	Het
Qk	T	A	17: 10,238,963	D159V	probably damaging	Het
Rab12	A	T	17: 66,500,317	I139N	probably damaging	Het
Rab25	T	A	3: 88,548,055	E7D	probably benign	Het
Rala	A	T	13: 17,888,589	V139E	probably benign	Het
Ralgapa2	A	G	2: 146,388,487		probably benign	Het
Rbl2	T	A	8: 91,074,176	Y89N	probably damaging	Het
Rho	A	T	6: 115,932,227	I75F	probably damaging	Het
Slc38a4	C	A	15: 97,008,949	A303S	probably benign	Het
Slc6a15	A	G	10: 103,409,809	D551G	probably null	Het
Smyd3	T	C	1: 179,043,872	N314S	probably benign	Het
Speer4f1	T	A	5: 17,479,514	L180*	probably null	Het
Stat6	T	C	10: 127,657,227	V576A	probably damaging	Het
Strn	T	C	17: 78,677,374	D127G	possibly damaging	Het
Syne1	T	C	10: 5,033,096	R8610G	probably benign	Het
Tbc1d7	A	C	13: 43,153,202		probably null	Het
Tcf3	C	T	10: 80,412,997	R548Q	probably damaging	Het
Tlr9	C	A	9: 106,226,087	A859D	probably benign	Het
Tmem106c	T	A	15: 97,968,139		probably benign	Het
Tmprss11c	A	T	5: 86,231,927		probably benign	Het
Tnfsf18	A	G	1: 161,494,731	R7G	probably benign	Het
Tnrc6b	T	A	15: 80,858,670		probably null	Het
Trpm7	A	T	2: 126,797,513	F1684I	probably damaging	Het
Ttbk1	C	A	17: 46,478,938	R133L	possibly damaging	Het
Ttn	A	G	2: 76,721,342	S22962P	probably damaging	Het
Ube2q1	T	A	3: 89,776,153	L135Q	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vwce	T	C	19: 10,659,973		probably benign	Het
Wdhd1	A	G	14: 47,267,068	S350P	probably benign	Het
Zbtb21	A	G	16: 97,951,404	S560P	probably damaging	Het

Other mutations in Cyp2d22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Cyp2d22	APN	15	82371668	missense	probably damaging	1.00
IGL01750:Cyp2d22	APN	15	82374369	missense	probably benign	0.12
IGL01801:Cyp2d22	APN	15	82372845	missense	probably benign	0.41
IGL02449:Cyp2d22	APN	15	82373241	missense	probably benign	0.00
ANU22:Cyp2d22	UTSW	15	82371668	missense	probably damaging	1.00
R0294:Cyp2d22	UTSW	15	82374445	missense	possibly damaging	0.86
R1381:Cyp2d22	UTSW	15	82372508	missense	probably benign	0.00
R1479:Cyp2d22	UTSW	15	82371936	missense	probably damaging	0.97
R1562:Cyp2d22	UTSW	15	82373978	missense	probably damaging	0.99
R1968:Cyp2d22	UTSW	15	82373172	missense	probably benign	0.04
R1972:Cyp2d22	UTSW	15	82375827	missense	probably benign	0.11
R4492:Cyp2d22	UTSW	15	82374370	missense	probably benign	0.00
R4575:Cyp2d22	UTSW	15	82371932	missense	possibly damaging	0.94
R4702:Cyp2d22	UTSW	15	82375917	missense	probably damaging	1.00
R4703:Cyp2d22	UTSW	15	82375917	missense	probably damaging	1.00
R5344:Cyp2d22	UTSW	15	82371638	missense	possibly damaging	0.95
R5523:Cyp2d22	UTSW	15	82372571	missense	probably damaging	1.00
R5888:Cyp2d22	UTSW	15	82373813	missense	probably benign
R6060:Cyp2d22	UTSW	15	82375885	missense	probably benign	0.00
R6108:Cyp2d22	UTSW	15	82371905	missense	possibly damaging	0.59
R6146:Cyp2d22	UTSW	15	82373835	critical splice acceptor site	probably null
R6279:Cyp2d22	UTSW	15	82373968	missense	probably damaging	1.00
R6563:Cyp2d22	UTSW	15	82371912	missense	probably damaging	1.00
R7597:Cyp2d22	UTSW	15	82375852	missense	probably damaging	1.00
R7709:Cyp2d22	UTSW	15	82374411	missense	possibly damaging	0.88
R7839:Cyp2d22	UTSW	15	82372571	missense	probably damaging	1.00
R8094:Cyp2d22	UTSW	15	82374355	missense	probably benign	0.19
R8302:Cyp2d22	UTSW	15	82371820	critical splice donor site	probably null
R8515:Cyp2d22	UTSW	15	82373912	missense	probably benign	0.27
R9245:Cyp2d22	UTSW	15	82372547	missense	probably damaging	0.97
R9323:Cyp2d22	UTSW	15	82374006	missense	probably damaging	1.00
R9521:Cyp2d22	UTSW	15	82372487	missense	probably damaging	1.00
Z1186:Cyp2d22	UTSW	15	82375885	missense	probably benign	0.00
Z1190:Cyp2d22	UTSW	15	82375885	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCCAGGAAGGCATCAGTCAAATC -3'
(R):5'- GCTGGGGTCAAGTGCTCGAAAATG -3'

Sequencing Primer
(F):5'- TTTTCCCAGGGAAGACCTTG -3'
(R):5'- AAAATGGTGCCTGTGCTCC -3'

Posted On

2013-04-16