Mutagenetix > Incidental Mutation

Incidental Mutation 'R5877:Cyp2g1'

455602

Institutional Source

Beutler Lab

Gene Symbol

Cyp2g1

Ensembl Gene

ENSMUSG00000049685

Gene Name

cytochrome P450, family 2, subfamily g, polypeptide 1

Synonyms

MMRRC Submission

044083-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26808892-26821205 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 26816640 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 310 (L310V)

Ref Sequence

ENSEMBL: ENSMUSP00000047150 (fasta)

Gene Model

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

AlphaFold

Q9WV19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040944
AA Change: L310V

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047150
Gene: ENSMUSG00000049685
AA Change: L310V

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

97% (68/70)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030462N17Rik	G	T	18: 77,643,206		probably null	Het
Adam6b	A	T	12: 113,490,202	H213L	probably damaging	Het
Alk	A	G	17: 71,967,526	W597R	probably damaging	Het
Ash1l	G	A	3: 88,981,584	V257I	probably benign	Het
Atp9b	C	T	18: 80,752,789	V957I	probably benign	Het
Birc3	A	C	9: 7,849,346	C576G	probably damaging	Het
Brca2	T	C	5: 150,543,221	M2150T	possibly damaging	Het
C3ar1	T	G	6: 122,850,622	D212A	probably benign	Het
Cacna1s	T	C	1: 136,100,667	F914S	probably damaging	Het
Camk1d	T	C	2: 5,565,665	I62V	probably benign	Het
Caskin1	T	C	17: 24,505,265	M1009T	possibly damaging	Het
Casp2	A	G	6: 42,276,637		probably benign	Het
Cd2bp2	T	A	7: 127,194,799	Y106F	probably damaging	Het
Celsr3	G	A	9: 108,845,727	C2763Y	probably damaging	Het
Dusp22	G	A	13: 30,707,961	V99M	probably damaging	Het
Fam131b	G	A	6: 42,320,979	S92L	probably benign	Het
Fbxw10	A	T	11: 62,857,716	N390Y	probably damaging	Het
Flg2	A	T	3: 93,203,449	H928L	unknown	Het
Gapdhs	T	C	7: 30,732,347	T280A	probably damaging	Het
Hdac11	A	G	6: 91,157,542	K50E	probably damaging	Het
Hif3a	G	T	7: 17,051,146	A181E	probably damaging	Het
Ikbkap	A	T	4: 56,787,807	W375R	probably damaging	Het
Itgb8	A	G	12: 119,202,536	S87P	probably benign	Het
Klhl12	T	A	1: 134,483,820	Y302*	probably null	Het
Lhx1	C	A	11: 84,522,239	D30Y	probably damaging	Het
Mrpl40	A	G	16: 18,872,385	Y148H	probably damaging	Het
Myh13	A	T	11: 67,353,658	H1007L	possibly damaging	Het
Nhlrc2	T	C	19: 56,570,584	I167T	probably damaging	Het
Nxpe3	A	T	16: 55,866,201	I148K	probably damaging	Het
Odf2l	A	G	3: 145,129,010		probably null	Het
Otud7b	C	T	3: 96,151,960	R347*	probably null	Het
P3h4	G	T	11: 100,414,017	H181Q	probably benign	Het
P4htm	T	A	9: 108,583,733	Y180F	possibly damaging	Het
Pcna-ps2	A	G	19: 9,284,099	I241V	probably benign	Het
Pcnx2	T	C	8: 125,753,728	S1947G	probably damaging	Het
Piezo2	T	C	18: 63,113,934	I336V	probably benign	Het
Plcd1	T	C	9: 119,076,172	D157G	probably damaging	Het
Plekhm2	A	C	4: 141,639,693	I212S	probably damaging	Het
Pmvk	G	T	3: 89,464,369	C57F	probably benign	Het
Pole	T	C	5: 110,332,463	S91P	probably benign	Het
Ppargc1b	C	G	18: 61,309,093	D591H	probably damaging	Het
Ppp4r3b	A	T	11: 29,209,356	D570V	probably damaging	Het
Pxdn	T	A	12: 30,003,046	I1074N	probably damaging	Het
Ralgapa2	A	T	2: 146,388,569	D1025E	probably damaging	Het
Ralgps1	A	G	2: 33,243,628		probably benign	Het
Rasal1	C	T	5: 120,679,070		probably benign	Het
Rps2	A	T	17: 24,720,916		probably benign	Het
Scn7a	G	C	2: 66,699,873	Y709*	probably null	Het
Skint1	T	A	4: 112,021,523	C217*	probably null	Het
Slc50a1	T	C	3: 89,269,153	Y82C	probably damaging	Het
Slc9a4	T	C	1: 40,612,263	V567A	probably benign	Het
Snx27	A	T	3: 94,502,963	W469R	probably damaging	Het
Sos2	A	G	12: 69,596,795	L937P	probably damaging	Het
Ssh1	T	C	5: 113,943,120	T728A	probably benign	Het
Tnfrsf8	G	A	4: 145,292,687	R193C	probably benign	Het
Usp33	T	A	3: 152,379,476	M583K	possibly damaging	Het
Usp33	G	A	3: 152,379,596	C623Y	probably damaging	Het
Wdfy3	T	C	5: 101,869,989	I2562V	probably damaging	Het
Wnk2	T	C	13: 49,067,306	D1175G	probably damaging	Het
Zcchc11	T	C	4: 108,512,923	V673A	probably damaging	Het
Zfp341	G	A	2: 154,632,289	E338K	probably damaging	Het
Zfp398	A	G	6: 47,840,704		probably benign	Het
Zp2	T	A	7: 120,133,339	K661N	probably null	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
R6745:Cyp2g1	UTSW	7	26814179	missense	probably damaging	1.00
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'- AATGCACCCTCTTTACACGG -3'
(R):5'- CCACTTTGAGAAGTCCTGACTAG -3'

Sequencing Primer
(F):5'- CTCTTTACACGGAGGAAAAAGGAAG -3'
(R):5'- AGGGTCATATGATAAATACAGGCTAC -3'

Posted On

2017-02-10