Mutagenetix > Incidental Mutation

Incidental Mutation 'R6563:Cyp2d22'

522577

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

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R6563 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82370527-82380260 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82371912 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 174 (W174R)

Ref Sequence

ENSEMBL: ENSMUSP00000155368 (fasta)

Gene Model

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

AlphaFold

Q9JKY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000023083
AA Change: W412R

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

SMART Domains

Protein: ENSMUSP00000023083
Gene: ENSMUSG00000061740
AA Change: W412R

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: W174R

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

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

0.9677

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	T	C	5: 118,258,982	V92A	possibly damaging	Het
Arhgap11a	A	T	2: 113,833,902	C679S	probably benign	Het
Atg4d	C	T	9: 21,268,460	L235F	possibly damaging	Het
Cyp4a14	T	A	4: 115,492,086	H259L	probably benign	Het
Dennd3	A	T	15: 73,544,380	H493L	probably damaging	Het
Diexf	C	A	1: 193,118,390	R374L	probably damaging	Het
Dnm1	T	A	2: 32,312,726	D759V	probably damaging	Het
Dvl1	T	A	4: 155,856,253	N443K	probably damaging	Het
Dync2h1	A	G	9: 7,120,819	V2156A	probably benign	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Ermp1	T	C	19: 29,623,778	D523G	probably damaging	Het
Fam83c	A	G	2: 155,830,952	V295A	probably damaging	Het
Gphn	T	C	12: 78,680,396		probably null	Het
Irs1	T	A	1: 82,288,407	N696I	probably damaging	Het
Kmt5c	A	G	7: 4,742,629	Y96C	probably damaging	Het
Krt77	G	T	15: 101,862,923	T315N	probably damaging	Het
L3mbtl3	A	C	10: 26,302,863		probably null	Het
Lama3	A	T	18: 12,537,766	Y2409F	probably damaging	Het
Lrrc9	A	G	12: 72,486,395		probably null	Het
Ltbp4	A	T	7: 27,309,063	N1273K	probably damaging	Het
Mfsd13b	G	A	7: 120,995,467	A321T	probably damaging	Het
Mvb12b	A	T	2: 33,825,116	H167Q	probably benign	Het
Myo1g	T	A	11: 6,517,146	N230Y	possibly damaging	Het
Olfr57	A	T	10: 79,035,217	R140S	possibly damaging	Het
Prkar2b	G	T	12: 31,993,786		probably null	Het
Pwwp2a	G	T	11: 43,705,765	A586S	possibly damaging	Het
Ryr1	A	G	7: 29,095,492	V1150A	possibly damaging	Het
Sh3bgr	A	G	16: 96,205,943		probably null	Het
Slk	T	C	19: 47,636,469		probably null	Het
Snx3	A	G	10: 42,526,036	E82G	possibly damaging	Het
Srcin1	A	T	11: 97,534,774	Y486N	possibly damaging	Het
Tecpr2	A	G	12: 110,929,087	E336G	probably benign	Het
Terf2ip	G	T	8: 112,018,202	V384F	probably damaging	Het
Tnn	T	A	1: 160,088,398	S1250C	probably damaging	Het
Tspoap1	A	G	11: 87,777,159	E1263G	possibly damaging	Het
Tubgcp5	A	G	7: 55,825,661	R932G	possibly damaging	Het
Vmn1r175	A	G	7: 23,808,605	I199T	possibly damaging	Het
Vmn1r225	C	T	17: 20,502,501	A68V	probably benign	Het
Vmn2r24	A	T	6: 123,804,178	N448Y	possibly 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
R0165:Cyp2d22	UTSW	15	82373280	missense	probably benign	0.06
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
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'- CTGAGATGCTAAAGCGCTGC -3'
(R):5'- CCACTAGGGCTAGGGTTATATGAAAG -3'

Sequencing Primer
(F):5'- CATGATCTGCGGCCTGTG -3'
(R):5'- CTAGGGTTATATGAAAGGATCCAGTC -3'

Posted On

2018-06-06