Mutagenetix > Incidental Mutation

Incidental Mutation 'R6745:Cyp2g1'

530528

Institutional Source

Beutler Lab

Gene Symbol

Cyp2g1

Ensembl Gene

ENSMUSG00000049685

Gene Name

cytochrome P450, family 2, subfamily g, polypeptide 1

Synonyms

MMRRC Submission

044862-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6745 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26808892-26821205 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 26814179 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 181 (V181G)

Ref Sequence

ENSEMBL: ENSMUSP00000047150 (fasta)

Gene Model

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

AlphaFold

Q9WV19

Predicted Effect

probably damaging
Transcript: ENSMUST00000040944
AA Change: V181G

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

SMART Domains

Protein: ENSMUSP00000047150
Gene: ENSMUSG00000049685
AA Change: V181G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205273

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (43/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	G	T	10: 10,390,197	T1040K	probably damaging	Het
Adgrf3	A	G	5: 30,203,603	V59A	probably benign	Het
Ankk1	G	T	9: 49,416,180	H566Q	probably benign	Het
Avil	A	C	10: 127,014,119	D613A	probably benign	Het
Bbs9	A	G	9: 22,670,836	N613S	probably benign	Het
Chd1	A	G	17: 17,387,167	T326A	probably benign	Het
Clasp2	A	T	9: 113,875,270	R558*	probably null	Het
Cmbl	A	G	15: 31,589,787	D221G	possibly damaging	Het
Col3a1	G	T	1: 45,338,622		probably benign	Het
Creb5	A	T	6: 53,604,532	M172L	probably benign	Het
Crybg3	A	G	16: 59,552,244	V2291A	possibly damaging	Het
D430042O09Rik	T	C	7: 125,770,650	S137P	probably benign	Het
Dclk1	T	A	3: 55,477,808	S40T	probably damaging	Het
Dnah10	G	T	5: 124,808,812	M3053I	probably damaging	Het
Dnah12	T	A	14: 26,707,228	I268K	probably damaging	Het
Dock2	C	G	11: 34,705,842	D396H	probably damaging	Het
Dock2	T	A	11: 34,705,843	K395N	probably damaging	Het
Gpbp1	G	A	13: 111,453,385	R59C	probably benign	Het
Ifi47	T	G	11: 49,095,502	I32S	probably benign	Het
Ighg3	A	G	12: 113,360,270	V166A	unknown	Het
Kdm5d	T	A	Y: 927,112	C617S	probably benign	Homo
Kif20b	T	G	19: 34,928,876	S55A	possibly damaging	Het
Klhl1	C	T	14: 96,280,002		probably null	Het
Kndc1	C	T	7: 139,920,976	T727I	probably benign	Het
Lrrk1	A	T	7: 66,273,001	I298N	probably damaging	Het
Ly75	C	A	2: 60,308,179	R1448L	probably damaging	Het
Mup4	C	T	4: 59,960,091	V58M	possibly damaging	Het
Nr2c1	T	C	10: 94,190,664	F467S	probably damaging	Het
Olfr112	T	A	17: 37,563,579	H244L	probably damaging	Het
Pla2g4a	G	T	1: 149,886,230	Q151K	probably benign	Het
Pom121l2	A	T	13: 21,983,698	Q713L	probably benign	Het
Pomgnt1	T	A	4: 116,153,883	S210T	probably damaging	Het
Prb1	T	C	6: 132,209,420		probably null	Het
Pyroxd2	T	C	19: 42,747,360	D101G	probably damaging	Het
Ranbp3	A	G	17: 56,709,308	D359G	probably benign	Het
Rgsl1	T	A	1: 153,822,317	I531F	probably benign	Het
Serpina1b	T	C	12: 103,730,355	N265S	possibly damaging	Het
Slc51b	T	C	9: 65,412,930	E85G	possibly damaging	Het
Stk32c	T	A	7: 139,122,893	R195W	probably damaging	Het
Uggt2	T	C	14: 119,042,610	T819A	possibly damaging	Het
Ugt1a9	A	T	1: 88,071,176	E116V	probably benign	Het
Zswim5	C	G	4: 116,975,204	P543A	probably damaging	Het

Other mutations in Cyp2g1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01134:Cyp2g1	APN	7	26809831	missense	probably benign	0.05
IGL01137:Cyp2g1	APN	7	26814259	missense	possibly damaging	0.87
IGL02052:Cyp2g1	APN	7	26814294	splice site	probably benign
IGL02338:Cyp2g1	APN	7	26814804	splice site	probably benign
IGL02452:Cyp2g1	APN	7	26811446	missense	probably benign	0.28
IGL02523:Cyp2g1	APN	7	26819187	missense	probably damaging	1.00
IGL03165:Cyp2g1	APN	7	26809776	missense	possibly damaging	0.94
IGL03230:Cyp2g1	APN	7	26819403	missense	probably damaging	1.00
PIT4472001:Cyp2g1	UTSW	7	26814194	missense	probably benign	0.28
R0106:Cyp2g1	UTSW	7	26814182	missense	probably damaging	1.00
R0106:Cyp2g1	UTSW	7	26814182	missense	probably damaging	1.00
R0380:Cyp2g1	UTSW	7	26814295	splice site	probably benign
R0697:Cyp2g1	UTSW	7	26814727	nonsense	probably null
R0830:Cyp2g1	UTSW	7	26814791	missense	probably benign	0.00
R1660:Cyp2g1	UTSW	7	26809682	critical splice acceptor site	probably null
R2093:Cyp2g1	UTSW	7	26819433	missense	probably benign	0.35
R2131:Cyp2g1	UTSW	7	26820710	missense	probably damaging	0.99
R4606:Cyp2g1	UTSW	7	26814154	missense	possibly damaging	0.80
R5030:Cyp2g1	UTSW	7	26820801	missense	probably benign	0.06
R5574:Cyp2g1	UTSW	7	26820740	missense	possibly damaging	0.81
R5877:Cyp2g1	UTSW	7	26816640	missense	possibly damaging	0.80
R7040:Cyp2g1	UTSW	7	26820759	missense	probably damaging	0.99
R7223:Cyp2g1	UTSW	7	26814632	missense	probably damaging	0.98
R7934:Cyp2g1	UTSW	7	26819193	missense	probably damaging	1.00
R8112:Cyp2g1	UTSW	7	26819461	missense	probably benign
R8177:Cyp2g1	UTSW	7	26819153	missense	probably damaging	1.00
R8194:Cyp2g1	UTSW	7	26814734	missense	possibly damaging	0.89
R9043:Cyp2g1	UTSW	7	26809831	missense	probably benign	0.05
R9406:Cyp2g1	UTSW	7	26819485	critical splice donor site	probably null
R9441:Cyp2g1	UTSW	7	26814635	missense	possibly damaging	0.72
X0067:Cyp2g1	UTSW	7	26820762	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- TGCAGTTTGGAAAACCTAGACTC -3'
(R):5'- TTAAGGGCCTCCAAGGGATG -3'

Sequencing Primer
(F):5'- CCTAGACTCAGATATGATAATGAGGC -3'
(R):5'- AAAGTACAGGAATGTGCTTGCTTTG -3'

Posted On

2018-08-01