Mutagenetix > Incidental Mutation

Incidental Mutation 'R8177:Cyp2g1'

634410

Institutional Source

Beutler Lab

Gene Symbol

Cyp2g1

Ensembl Gene

ENSMUSG00000049685

Gene Name

cytochrome P450, family 2, subfamily g, polypeptide 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8177 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26808892-26821205 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26819153 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 364 (D364E)

Ref Sequence

ENSEMBL: ENSMUSP00000047150 (fasta)

Gene Model

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

AlphaFold

Q9WV19

Predicted Effect

probably damaging
Transcript: ENSMUST00000040944
AA Change: D364E

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

SMART Domains

Protein: ENSMUSP00000047150
Gene: ENSMUSG00000049685
AA Change: D364E

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: 99.6%
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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,128,564	Y127*	probably null	Het
Abcb5	C	T	12: 118,872,790	V1129I	possibly damaging	Het
Abcc2	A	G	19: 43,807,080	D425G	probably damaging	Het
Adamts15	T	A	9: 30,922,026	D71V	probably damaging	Het
Add1	A	G	5: 34,616,705	H435R	possibly damaging	Het
AI464131	G	T	4: 41,497,568	Y687*	probably null	Het
Akr1c19	A	G	13: 4,242,592	N204S	probably benign	Het
Ankub1	C	A	3: 57,690,416	R44S	possibly damaging	Het
Ano3	T	A	2: 110,666,456	N783Y	probably damaging	Het
Bbs9	A	G	9: 22,514,063	M138V	probably benign	Het
Ccdc18	G	A	5: 108,197,795	E936K	possibly damaging	Het
Cit	T	G	5: 115,988,159	L1604V	probably benign	Het
Col2a1	T	A	15: 97,976,773	S1396C	unknown	Het
Col3a1	G	C	1: 45,335,764	G653R	unknown	Het
Col6a1	T	C	10: 76,725,029	E45G	probably damaging	Het
Col9a3	T	A	2: 180,607,657	F271I	probably damaging	Het
Dmbt1	T	A	7: 131,106,432	V1457D	possibly damaging	Het
Dnah17	A	T	11: 118,128,927	I98N	possibly damaging	Het
Dyrk1b	T	A	7: 28,183,176	M222K	possibly damaging	Het
Epha8	T	C	4: 136,945,663	D270G	probably benign	Het
Fbxw17	T	C	13: 50,425,624	L159P	probably damaging	Het
Fgl2	G	A	5: 21,373,309		probably null	Het
Fmnl1	A	T	11: 103,189,959	M309L	probably damaging	Het
Fn1	T	C	1: 71,609,587	I1479V	probably benign	Het
Gm11939	A	T	11: 99,559,298	S57T	possibly damaging	Het
Gm5415	T	C	1: 32,546,376	E151G	probably benign	Het
Gm9195	C	T	14: 72,460,537	A1268T	possibly damaging	Het
Gnpda1	A	G	18: 38,333,295	W90R	possibly damaging	Het
Igkv5-43	T	A	6: 69,823,461	R81W	probably damaging	Het
Mapk3	T	A	7: 126,763,765	W230R	probably null	Het
Mplkip	A	G	13: 17,695,620	S46G	probably benign	Het
Mrs2	T	C	13: 25,004,978	T118A	probably benign	Het
Mst1r	T	A	9: 107,907,585	H147Q	probably damaging	Het
Muc5ac	G	C	7: 141,807,331	G1460R	probably damaging	Het
Naip1	T	C	13: 100,427,403	H418R	probably benign	Het
Ncapg	A	G	5: 45,693,753	T763A	probably benign	Het
Nr6a1	T	C	2: 38,729,498	I462V	probably benign	Het
Nudcd3	T	C	11: 6,193,460	D70G	possibly damaging	Het
Nup210	A	G	6: 91,014,488	S1858P	probably benign	Het
Olfr1080	T	A	2: 86,553,279	I282F	noncoding transcript	Het
Olfr1110	C	A	2: 87,135,950	V124L	possibly damaging	Het
Olfr1148	T	A	2: 87,833,168	I43N	probably benign	Het
Olfr2	G	C	7: 107,001,456	L135V	probably damaging	Het
Olfr775	A	G	10: 129,250,921	H129R	probably benign	Het
Pde4dip	T	C	3: 97,767,532	T23A	probably damaging	Het
Pex6	A	G	17: 46,714,062	Q347R	probably benign	Het
Rbm27	A	G	18: 42,324,110	K694R	probably damaging	Het
Rnf40	T	G	7: 127,596,150	D549E	probably benign	Het
Rpl22	A	G	4: 152,327,511	K15E	probably damaging	Het
Rsph6a	T	A	7: 19,074,239	D697E	unknown	Het
Sec23b	C	T	2: 144,585,623	P590L	probably benign	Het
Slc17a7	T	A	7: 45,174,932	M524K	probably benign	Het
Slc28a1	G	A	7: 81,164,416	D454N	probably benign	Het
Slc6a13	C	T	6: 121,325,028	R190*	probably null	Het
Slc7a9	G	A	7: 35,456,133	V257I	probably benign	Het
Slco1a6	T	A	6: 142,101,734	M377L	probably damaging	Het
Slit3	A	G	11: 35,579,092	E307G	probably damaging	Het
Smchd1	A	G	17: 71,390,453	M1164T	probably benign	Het
Stk4	T	C	2: 164,088,857	I126T	probably damaging	Het
Syndig1	A	T	2: 149,899,868	S125C	probably damaging	Het
Synm	T	C	7: 67,734,065	D1283G	probably benign	Het
Tmprss6	T	C	15: 78,465,127	M73V	probably benign	Het
Tmprss9	A	G	10: 80,895,048	I803V	probably benign	Het
Tmx4	A	T	2: 134,643,902	V35E	probably damaging	Het
Topbp1	T	G	9: 103,320,541	S440A	probably benign	Het
Twf1	T	C	15: 94,584,395	I157V	possibly damaging	Het
Vmn1r205	T	C	13: 22,592,245	N229S	probably benign	Het
Vmn1r27	T	A	6: 58,215,774	I82L	probably benign	Het
Vmn2r112	A	G	17: 22,603,613	N424S	possibly damaging	Het
Vmn2r68	A	T	7: 85,222,214	Y620*	probably null	Het
Zfp51	A	G	17: 21,463,867	D248G	probably benign	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
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
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'- GCAGAACATGGCTTGCTCTAAC -3'
(R):5'- ACATCTGTACCCTGGGAGAC -3'

Sequencing Primer
(F):5'- AGACATGTGGCTCATACCTG -3'
(R):5'- CAGACAGAGGCTATTAGAGTTCTGTG -3'

Posted On

2020-07-13