Mutagenetix > Incidental Mutation

Incidental Mutation 'R4606:Cyp2g1'

346017

Institutional Source

Beutler Lab

Gene Symbol

Cyp2g1

Ensembl Gene

ENSMUSG00000049685

Gene Name

cytochrome P450, family 2, subfamily g, polypeptide 1

Synonyms

MMRRC Submission

041817-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4606 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26808892-26821205 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26814154 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 173 (Y173N)

Ref Sequence

ENSEMBL: ENSMUSP00000047150 (fasta)

Gene Model

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

AlphaFold

Q9WV19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040944
AA Change: Y173N

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047150
Gene: ENSMUSG00000049685
AA Change: Y173N

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

96% (69/72)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	T	8: 79,210,745	W178R	probably benign	Het
Abcb5	T	C	12: 118,932,610		probably null	Het
Akr1b3	C	A	6: 34,306,664		probably benign	Het
Arid1a	A	G	4: 133,687,323	F1199S	unknown	Het
Atp4b	A	G	8: 13,389,998	F116S	probably damaging	Het
Atp6v1b1	T	C	6: 83,752,461	S127P	probably damaging	Het
Blk	C	T	14: 63,374,203	V428I	probably benign	Het
C87414	A	T	5: 93,636,602	D137E	probably damaging	Het
Ccser1	T	C	6: 61,311,584	S244P	probably damaging	Het
Ceacam1	T	A	7: 25,474,526	I235F	probably damaging	Het
Ddr2	T	A	1: 170,001,852	I278F	probably benign	Het
Degs1	T	C	1: 182,276,823	D299G	probably damaging	Het
Dip2b	G	A	15: 100,215,329	V1542I	possibly damaging	Het
Dmxl1	T	A	18: 49,962,181	S2942R	probably damaging	Het
Dpf1	T	A	7: 29,316,590		probably benign	Het
Ephb6	A	G	6: 41,616,574	Y518C	probably benign	Het
Eps15l1	A	T	8: 72,373,916	F606I	possibly damaging	Het
Extl1	A	G	4: 134,371,379	S114P	probably damaging	Het
Extl1	A	C	4: 134,371,380	D113E	probably benign	Het
Fat1	T	C	8: 44,950,683	V157A	possibly damaging	Het
Fcho1	A	T	8: 71,712,480	D444E	probably benign	Het
Fgd3	T	A	13: 49,296,560	D71V	probably damaging	Het
Fgd5	T	A	6: 91,988,209	D316E	possibly damaging	Het
Gys2	A	T	6: 142,454,484	F334I	possibly damaging	Het
Ik	G	T	18: 36,753,555	R360L	possibly damaging	Het
Kazn	A	C	4: 142,118,288		probably null	Het
Kmt2d	A	T	15: 98,839,716		probably benign	Het
Krr1	T	C	10: 111,975,677		probably benign	Het
Krt83	C	T	15: 101,487,049	E389K	probably benign	Het
Lrrc4c	T	C	2: 97,630,313	V428A	probably benign	Het
Lvrn	C	A	18: 46,864,765	T260K	possibly damaging	Het
Mcc	C	T	18: 44,468,421	E614K	probably damaging	Het
Msrb3	A	T	10: 120,849,997	V81D	probably damaging	Het
Muc19	C	T	15: 91,934,383		noncoding transcript	Het
Myadm	T	A	7: 3,297,400	L226*	probably null	Het
Myof	C	T	19: 37,967,099	V526M	probably damaging	Het
Nckap5l	A	G	15: 99,429,323		probably benign	Het
Olfr1010	T	A	2: 85,753,940		probably benign	Het
Olfr1260	C	A	2: 89,978,006	A76D	possibly damaging	Het
Olfr1270	G	T	2: 90,148,816		probably benign	Het
Olfr398	A	G	11: 73,983,892	S239P	probably damaging	Het
Pars2	T	C	4: 106,654,050	V307A	probably benign	Het
Pcdhb1	T	G	18: 37,265,528	Y177*	probably null	Het
Pcdhb4	T	A	18: 37,308,652	D338E	probably damaging	Het
Pik3r2	G	A	8: 70,772,136	R199*	probably null	Het
Pla2g4f	C	T	2: 120,313,986	R24Q	probably benign	Het
Pnma2	T	C	14: 66,916,232	I35T	probably benign	Het
Podn	C	A	4: 108,017,867	A568S	probably benign	Het
Pou3f1	A	T	4: 124,658,836	E377V	probably damaging	Het
Ppfia1	T	C	7: 144,485,192	D494G	probably damaging	Het
Ptpn9	A	T	9: 57,022,211	T71S	possibly damaging	Het
Ptprz1	C	T	6: 23,001,487	P1192L	possibly damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rnf217	T	A	10: 31,517,476	K370*	probably null	Het
Rpap2	G	A	5: 107,601,795	V62I	possibly damaging	Het
Scaper	A	T	9: 55,655,903		probably null	Het
Sos2	T	C	12: 69,614,606		probably benign	Het
Sptbn5	C	T	2: 120,067,446		probably null	Het
Sumo1	A	G	1: 59,644,509		probably benign	Het
Syne2	C	A	12: 75,989,253	N3771K	probably damaging	Het
Tbx18	T	C	9: 87,730,769	I26V	possibly damaging	Het
Trpm3	T	A	19: 22,978,624	M1140K	probably benign	Het
Usp29	G	A	7: 6,963,357		probably null	Het
Wdr7	C	T	18: 63,779,945	Q946*	probably null	Het
Ythdf1	T	C	2: 180,912,182	D46G	probably damaging	Het
Zfp217	T	C	2: 170,119,750	N219S	possibly damaging	Het
Zkscan3	A	G	13: 21,393,783	I256T	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
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
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'- GGTTGCAGTTTGGAAAACCTAGAC -3'
(R):5'- ATTTAAGGGCCTCCAAGGGATG -3'

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

Posted On

2015-09-25