Mutagenetix > Incidental Mutation

Incidental Mutation 'R7040:Cyp2g1'

546991

Institutional Source

Beutler Lab

Gene Symbol

Cyp2g1

Ensembl Gene

ENSMUSG00000049685

Gene Name

cytochrome P450, family 2, subfamily g, polypeptide 1

Synonyms

MMRRC Submission

045013-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7040 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26508352-26520622 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 26520184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 472 (D472A)

Ref Sequence

ENSEMBL: ENSMUSP00000047150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040944]

AlphaFold

Q9WV19

Predicted Effect

probably damaging
Transcript: ENSMUST00000040944
AA Change: D472A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047150
Gene: ENSMUSG00000049685
AA Change: D472A

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Pfam:p450	34	491	4e-150	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 127,835,897 (GRCm39)	L232P	possibly damaging	Het
Acaa1a	T	C	9: 119,178,104 (GRCm39)	V312A	probably damaging	Het
Bmp2	A	G	2: 133,403,604 (GRCm39)	D385G	probably damaging	Het
C1qtnf9	T	C	14: 61,017,241 (GRCm39)	V257A	probably damaging	Het
Cd3d	G	A	9: 44,896,991 (GRCm39)	V122I	probably damaging	Het
Cdc37	T	C	9: 21,053,519 (GRCm39)	E199G	probably damaging	Het
Crb2	T	A	2: 37,677,696 (GRCm39)	D326E	probably benign	Het
Cyp2c29	A	C	19: 39,318,781 (GRCm39)	K420N	possibly damaging	Het
Dab2	A	C	15: 6,451,732 (GRCm39)	H116P	probably damaging	Het
Dnah7b	G	C	1: 46,275,969 (GRCm39)	E2619Q	probably benign	Het
Dsg4	A	T	18: 20,584,909 (GRCm39)	M208L	probably benign	Het
Eif4enif1	T	G	11: 3,184,040 (GRCm39)	V521G	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fpr-rs6	A	G	17: 20,403,196 (GRCm39)	M55T	probably damaging	Het
Grhpr	A	G	4: 44,985,362 (GRCm39)	S101G	probably damaging	Het
Kif15	T	A	9: 122,840,679 (GRCm39)	D33E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,936,158 (GRCm39)	Q611R	possibly damaging	Het
Lrrc47	T	A	4: 154,104,909 (GRCm39)	*123R	probably null	Het
Map4k3	A	C	17: 80,988,344 (GRCm39)	V36G	probably damaging	Het
Mme	T	A	3: 63,276,344 (GRCm39)	I707N	probably damaging	Het
Muc2	A	G	7: 141,305,194 (GRCm39)	E166G	unknown	Het
Mucl1	T	A	15: 103,783,844 (GRCm39)	T108S	possibly damaging	Het
Myo1h	A	T	5: 114,497,805 (GRCm39)	D53V	possibly damaging	Het
Naa15	T	A	3: 51,380,205 (GRCm39)	L811Q	possibly damaging	Het
Nalcn	T	C	14: 123,525,267 (GRCm39)	T1487A	probably benign	Het
Nme8	A	T	13: 19,878,498 (GRCm39)	L87H	probably damaging	Het
Nr2e1	A	G	10: 42,444,374 (GRCm39)	V245A	probably damaging	Het
Nt5c2	A	T	19: 46,881,974 (GRCm39)	F291Y	possibly damaging	Het
Ooep	T	C	9: 78,285,683 (GRCm39)	N43S	possibly damaging	Het
Or10ak13	T	C	4: 118,639,183 (GRCm39)	M200V	probably benign	Het
Or4e1	T	C	14: 52,700,932 (GRCm39)	D178G	possibly damaging	Het
Or52i2	A	T	7: 102,319,937 (GRCm39)	Q270L	probably benign	Het
Or52n2c	A	T	7: 104,574,717 (GRCm39)	C85S	probably benign	Het
Ovch2	A	T	7: 107,395,772 (GRCm39)	I82N	probably damaging	Het
Palb2	A	T	7: 121,713,622 (GRCm39)	M524K	possibly damaging	Het
Patj	T	C	4: 98,329,317 (GRCm39)	S524P	probably benign	Het
Patl1	T	A	19: 11,907,318 (GRCm39)	Y401N	possibly damaging	Het
Pcdhb20	A	T	18: 37,637,770 (GRCm39)	T99S	probably benign	Het
Plcb4	G	A	2: 135,774,182 (GRCm39)	A155T	probably benign	Het
Rpap3	A	G	15: 97,576,993 (GRCm39)	V585A	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spen	T	A	4: 141,221,693 (GRCm39)	T302S	unknown	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Ube2o	T	C	11: 116,432,686 (GRCm39)	E760G	probably benign	Het
Uimc1	T	A	13: 55,223,267 (GRCm39)		probably null	Het
Usp16	C	T	16: 87,277,817 (GRCm39)	A689V	probably damaging	Het
Vmn2r60	G	A	7: 41,791,666 (GRCm39)	A530T	probably benign	Het
Vps8	T	A	16: 21,393,772 (GRCm39)	M1185K	probably damaging	Het
Vwa8	T	C	14: 79,149,645 (GRCm39)	S136P	probably damaging	Het
Ythdc2	A	G	18: 44,967,529 (GRCm39)	N175S	probably benign	Het
Zfp160	A	T	17: 21,246,794 (GRCm39)	H448L	probably damaging	Het
Zfp90	T	A	8: 107,151,641 (GRCm39)	C451*	probably null	Het
Zfp945	A	G	17: 23,071,264 (GRCm39)	C212R	probably damaging	Het

Other mutations in Cyp2g1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01134:Cyp2g1	APN	7	26,509,256 (GRCm39)	missense	probably benign	0.05
IGL01137:Cyp2g1	APN	7	26,513,684 (GRCm39)	missense	possibly damaging	0.87
IGL02052:Cyp2g1	APN	7	26,513,719 (GRCm39)	splice site	probably benign
IGL02338:Cyp2g1	APN	7	26,514,229 (GRCm39)	splice site	probably benign
IGL02452:Cyp2g1	APN	7	26,510,871 (GRCm39)	missense	probably benign	0.28
IGL02523:Cyp2g1	APN	7	26,518,612 (GRCm39)	missense	probably damaging	1.00
IGL03165:Cyp2g1	APN	7	26,509,201 (GRCm39)	missense	possibly damaging	0.94
IGL03230:Cyp2g1	APN	7	26,518,828 (GRCm39)	missense	probably damaging	1.00
PIT4472001:Cyp2g1	UTSW	7	26,513,619 (GRCm39)	missense	probably benign	0.28
R0106:Cyp2g1	UTSW	7	26,513,607 (GRCm39)	missense	probably damaging	1.00
R0106:Cyp2g1	UTSW	7	26,513,607 (GRCm39)	missense	probably damaging	1.00
R0380:Cyp2g1	UTSW	7	26,513,720 (GRCm39)	splice site	probably benign
R0697:Cyp2g1	UTSW	7	26,514,152 (GRCm39)	nonsense	probably null
R0830:Cyp2g1	UTSW	7	26,514,216 (GRCm39)	missense	probably benign	0.00
R1660:Cyp2g1	UTSW	7	26,509,107 (GRCm39)	critical splice acceptor site	probably null
R2093:Cyp2g1	UTSW	7	26,518,858 (GRCm39)	missense	probably benign	0.35
R2131:Cyp2g1	UTSW	7	26,520,135 (GRCm39)	missense	probably damaging	0.99
R4606:Cyp2g1	UTSW	7	26,513,579 (GRCm39)	missense	possibly damaging	0.80
R5030:Cyp2g1	UTSW	7	26,520,226 (GRCm39)	missense	probably benign	0.06
R5574:Cyp2g1	UTSW	7	26,520,165 (GRCm39)	missense	possibly damaging	0.81
R5877:Cyp2g1	UTSW	7	26,516,065 (GRCm39)	missense	possibly damaging	0.80
R6745:Cyp2g1	UTSW	7	26,513,604 (GRCm39)	missense	probably damaging	1.00
R7223:Cyp2g1	UTSW	7	26,514,057 (GRCm39)	missense	probably damaging	0.98
R7934:Cyp2g1	UTSW	7	26,518,618 (GRCm39)	missense	probably damaging	1.00
R8112:Cyp2g1	UTSW	7	26,518,886 (GRCm39)	missense	probably benign
R8177:Cyp2g1	UTSW	7	26,518,578 (GRCm39)	missense	probably damaging	1.00
R8194:Cyp2g1	UTSW	7	26,514,159 (GRCm39)	missense	possibly damaging	0.89
R9043:Cyp2g1	UTSW	7	26,509,256 (GRCm39)	missense	probably benign	0.05
R9406:Cyp2g1	UTSW	7	26,518,910 (GRCm39)	critical splice donor site	probably null
R9441:Cyp2g1	UTSW	7	26,514,060 (GRCm39)	missense	possibly damaging	0.72
X0067:Cyp2g1	UTSW	7	26,520,187 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- CGTGGGCTAAGATGCTGAATAATC -3'
(R):5'- TCTCAGAACAACAGTGAGAGTGAC -3'

Sequencing Primer
(F):5'- CTGAATAATCAGTCGAGGCTGC -3'
(R):5'- ACCTCTCTTCAAGGAGTATGGAG -3'

Posted On

2019-05-13