Mutagenetix > Incidental Mutation

Incidental Mutation 'R9749:Cyp2a22'

732408

Institutional Source

Beutler Lab

Gene Symbol

Cyp2a22

Ensembl Gene

ENSMUSG00000091867

Gene Name

cytochrome P450, family 2, subfamily a, polypeptide 22

Synonyms

EG233005

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R9749 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26631056-26638809 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26638715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 24 (W24R)

Ref Sequence

ENSEMBL: ENSMUSP00000128030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170227]

AlphaFold

B2RXZ2

Predicted Effect

probably null
Transcript: ENSMUST00000170227
AA Change: W24R

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000128030
Gene: ENSMUSG00000091867
AA Change: W24R

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:p450	33	489	7.4e-148	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,080,521 (GRCm39)	I382F	possibly damaging	Het
Adamtsl3	A	G	7: 82,099,394 (GRCm39)	S183G	probably benign	Het
Adamtsl4	T	C	3: 95,591,457 (GRCm39)	H170R	probably benign	Het
Adcy2	T	C	13: 68,773,974 (GRCm39)	D1023G	probably damaging	Het
Agrn	C	A	4: 156,258,114 (GRCm39)	V1083F	probably benign	Het
Arhgap21	T	C	2: 20,854,026 (GRCm39)	T1789A	probably benign	Het
Atr	T	C	9: 95,819,703 (GRCm39)		probably null	Het
Bcl2l13	T	C	6: 120,842,633 (GRCm39)	S109P	possibly damaging	Het
Bik	A	T	15: 83,425,540 (GRCm39)	T14S	possibly damaging	Het
Car7	A	G	8: 105,275,054 (GRCm39)	D164G	probably damaging	Het
Cat	T	A	2: 103,285,445 (GRCm39)	K499M	probably benign	Het
Ccar2	T	A	14: 70,388,728 (GRCm39)	Q161L	probably benign	Het
Cd109	T	G	9: 78,592,166 (GRCm39)	V760G	probably damaging	Het
Cep350	A	T	1: 155,828,985 (GRCm39)	H246Q	probably benign	Het
Cfap91	A	G	16: 38,128,487 (GRCm39)	I496T	probably damaging	Het
Chst13	T	C	6: 90,295,251 (GRCm39)	D54G	probably damaging	Het
Cilk1	T	A	9: 78,060,999 (GRCm39)	V215E	probably damaging	Het
Col4a4	A	G	1: 82,463,353 (GRCm39)	S1046P	unknown	Het
Col6a5	T	C	9: 105,739,190 (GRCm39)	Q2581R	probably damaging	Het
Cox5b-ps	G	A	13: 21,685,515 (GRCm39)	A25V	probably benign	Het
Csmd2	A	T	4: 128,389,921 (GRCm39)	I2219F		Het
Cux2	G	A	5: 122,007,780 (GRCm39)	S627L	possibly damaging	Het
Dhrs7c	A	T	11: 67,702,479 (GRCm39)	T156S	probably damaging	Het
Dnah9	A	G	11: 65,986,202 (GRCm39)	V1144A	probably damaging	Het
Folh1	T	C	7: 86,368,908 (GRCm39)	T740A	probably damaging	Het
Foxo4	G	A	X: 100,301,955 (GRCm39)	S209N	probably benign	Het
Gm10300	A	G	4: 131,802,029 (GRCm39)	T8A	unknown	Het
Gns	T	A	10: 121,214,057 (GRCm39)	I244N	probably benign	Het
Gsdmd	A	G	15: 75,735,411 (GRCm39)	K52E	probably damaging	Het
H1f0	A	G	15: 78,913,217 (GRCm39)	D99G	probably benign	Het
Hapln4	T	C	8: 70,539,724 (GRCm39)	Y252H	probably damaging	Het
Hmcn1	A	C	1: 150,632,339 (GRCm39)	I866S	possibly damaging	Het
Hrnr	C	T	3: 93,231,384 (GRCm39)	R541C	unknown	Het
Igkv4-57-1	A	G	6: 69,521,408 (GRCm39)	I98T	probably damaging	Het
Itih3	T	A	14: 30,641,279 (GRCm39)	D253V	probably damaging	Het
Kansl1l	T	A	1: 66,760,970 (GRCm39)	E869D	probably damaging	Het
Kif13a	T	C	13: 46,914,227 (GRCm39)	Q502R	probably damaging	Het
Lama5	T	A	2: 179,825,433 (GRCm39)	Q2447L	probably benign	Het
Lcn6	A	T	2: 25,570,034 (GRCm39)	M1L	probably benign	Het
Lrrtm1	T	C	6: 77,220,855 (GRCm39)	V104A	probably damaging	Het
Map3k13	T	C	16: 21,740,581 (GRCm39)	L636P	probably benign	Het
Melk	T	A	4: 44,307,067 (GRCm39)	H74Q	possibly damaging	Het
Mixl1	A	T	1: 180,522,311 (GRCm39)	M190K	probably benign	Het
Mttp	A	G	3: 137,830,989 (GRCm39)	S27P	probably damaging	Het
Myh6	T	C	14: 55,190,943 (GRCm39)	I911V	probably damaging	Het
Ncapd3	T	A	9: 26,956,873 (GRCm39)	I262N	probably benign	Het
Ncapg2	C	A	12: 116,411,368 (GRCm39)	S1051*	probably null	Het
Nckap1	G	A	2: 80,401,568 (GRCm39)	Q39*	probably null	Het
Nemp1	A	G	10: 127,524,198 (GRCm39)	D76G	probably benign	Het
Or12e10	A	C	2: 87,640,202 (GRCm39)	K13Q	probably benign	Het
Or2a20	G	A	6: 43,194,258 (GRCm39)	W137*	probably null	Het
Or2l13	A	T	16: 19,306,113 (GRCm39)	H175L	possibly damaging	Het
Or4a2	T	A	2: 89,248,662 (GRCm39)	I32F	possibly damaging	Het
Or8k36-ps1	T	C	2: 86,437,909 (GRCm39)	E2G	probably benign	Het
Osbpl5	C	A	7: 143,249,308 (GRCm39)	V578L	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Rabl3	A	G	16: 37,377,190 (GRCm39)	D49G	possibly damaging	Het
Rngtt	A	G	4: 33,368,618 (GRCm39)	I384V	possibly damaging	Het
Robo1	T	C	16: 72,105,257 (GRCm39)		probably benign	Het
Rtcb	C	A	10: 85,785,453 (GRCm39)	R125L	probably damaging	Het
Rtn4rl2	C	A	2: 84,702,954 (GRCm39)	R206L	probably damaging	Het
Sbk2	A	T	7: 4,960,333 (GRCm39)	I279N	probably benign	Het
Scaf1	A	G	7: 44,656,576 (GRCm39)	S768P	unknown	Het
Slc6a9	A	G	4: 117,721,198 (GRCm39)	H316R	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Tas2r136	G	T	6: 132,755,106 (GRCm39)	T7K	probably damaging	Het
Tbc1d9	T	A	8: 83,968,339 (GRCm39)		probably null	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tmem40	T	C	6: 115,719,306 (GRCm39)	D53G	probably benign	Het
Tram1	A	T	1: 13,640,238 (GRCm39)	V272D	possibly damaging	Het
Trpc4	G	A	3: 54,102,302 (GRCm39)	D67N	probably damaging	Het
Ttc6	A	T	12: 57,701,559 (GRCm39)	T591S	probably benign	Het
Ube2g1	A	T	11: 72,570,199 (GRCm39)	E144V	probably benign	Het
Unc80	A	G	1: 66,544,179 (GRCm39)	D434G	probably damaging	Het
Vmn1r168	C	A	7: 23,240,237 (GRCm39)	N31K	probably damaging	Het
Vmn1r79	A	T	7: 11,910,450 (GRCm39)	T111S	probably damaging	Het
Vmn2r118	C	T	17: 55,915,415 (GRCm39)		probably null	Het
Vps35l	C	A	7: 118,352,107 (GRCm39)	D195E	probably benign	Het
Yy1	A	G	12: 108,772,417 (GRCm39)	D231G	possibly damaging	Het
Zfp748	A	G	13: 67,690,573 (GRCm39)	V229A	probably benign	Het

Other mutations in Cyp2a22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Cyp2a22	APN	7	26,637,163 (GRCm39)	missense	probably benign	0.09
IGL01111:Cyp2a22	APN	7	26,635,883 (GRCm39)	missense	probably damaging	1.00
IGL01388:Cyp2a22	APN	7	26,637,217 (GRCm39)	missense	probably benign	0.02
IGL01449:Cyp2a22	APN	7	26,632,978 (GRCm39)	missense	probably benign	0.01
IGL01642:Cyp2a22	APN	7	26,638,184 (GRCm39)	missense	possibly damaging	0.81
IGL02253:Cyp2a22	APN	7	26,637,662 (GRCm39)	splice site	probably benign
IGL02327:Cyp2a22	APN	7	26,634,206 (GRCm39)	missense	probably damaging	0.99
IGL02673:Cyp2a22	APN	7	26,637,525 (GRCm39)	missense	probably benign	0.00
IGL02813:Cyp2a22	APN	7	26,635,859 (GRCm39)	missense	probably benign	0.19
IGL02896:Cyp2a22	APN	7	26,635,886 (GRCm39)	missense	probably damaging	0.98
IGL03193:Cyp2a22	APN	7	26,635,846 (GRCm39)	missense	probably benign	0.00
IGL03350:Cyp2a22	APN	7	26,634,279 (GRCm39)	missense	possibly damaging	0.88
R1648:Cyp2a22	UTSW	7	26,631,793 (GRCm39)	missense	probably damaging	0.98
R1679:Cyp2a22	UTSW	7	26,635,736 (GRCm39)	nonsense	probably null
R1733:Cyp2a22	UTSW	7	26,634,187 (GRCm39)	missense	possibly damaging	0.78
R2001:Cyp2a22	UTSW	7	26,634,197 (GRCm39)	missense	probably damaging	1.00
R2858:Cyp2a22	UTSW	7	26,633,687 (GRCm39)	missense	probably damaging	0.99
R3054:Cyp2a22	UTSW	7	26,638,254 (GRCm39)	missense	probably damaging	1.00
R4528:Cyp2a22	UTSW	7	26,634,194 (GRCm39)	missense	possibly damaging	0.95
R4623:Cyp2a22	UTSW	7	26,632,916 (GRCm39)	missense	probably damaging	1.00
R4669:Cyp2a22	UTSW	7	26,637,280 (GRCm39)	missense	possibly damaging	0.88
R4690:Cyp2a22	UTSW	7	26,638,634 (GRCm39)	nonsense	probably null
R4840:Cyp2a22	UTSW	7	26,631,949 (GRCm39)	missense	probably benign	0.13
R4915:Cyp2a22	UTSW	7	26,637,195 (GRCm39)	missense	probably benign	0.33
R5071:Cyp2a22	UTSW	7	26,631,906 (GRCm39)	missense	probably benign	0.01
R5072:Cyp2a22	UTSW	7	26,631,906 (GRCm39)	missense	probably benign	0.01
R5074:Cyp2a22	UTSW	7	26,631,906 (GRCm39)	missense	probably benign	0.01
R5147:Cyp2a22	UTSW	7	26,635,750 (GRCm39)	missense	probably damaging	1.00
R5363:Cyp2a22	UTSW	7	26,635,858 (GRCm39)	missense	probably damaging	0.99
R5705:Cyp2a22	UTSW	7	26,638,640 (GRCm39)	missense	probably benign	0.05
R6014:Cyp2a22	UTSW	7	26,638,605 (GRCm39)	splice site	probably null
R6042:Cyp2a22	UTSW	7	26,633,664 (GRCm39)	missense	probably damaging	1.00
R6253:Cyp2a22	UTSW	7	26,633,657 (GRCm39)	missense	probably benign	0.18
R6757:Cyp2a22	UTSW	7	26,638,629 (GRCm39)	missense	probably benign	0.00
R6994:Cyp2a22	UTSW	7	26,638,606 (GRCm39)	critical splice donor site	probably null
R7581:Cyp2a22	UTSW	7	26,637,573 (GRCm39)	missense	possibly damaging	0.87
R8212:Cyp2a22	UTSW	7	26,637,205 (GRCm39)	missense	possibly damaging	0.89
R9225:Cyp2a22	UTSW	7	26,637,202 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CTGCAATCACACAGACTCTTGTC -3'
(R):5'- TTGCAACACAGACAGAGTCC -3'

Sequencing Primer
(F):5'- GACTCTTGTCTGTGTCCCATG -3'
(R):5'- CCATGTAAGGAGATAGAATTGCAATC -3'

Posted On

2022-11-14