Mutagenetix > Incidental Mutation

Incidental Mutation 'R8112:Cyp2g1'

630925

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 #

R8112 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26808892-26821205 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26819461 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 427 (D427E)

Ref Sequence

ENSEMBL: ENSMUSP00000047150 (fasta)

Gene Model

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

AlphaFold

Q9WV19

Predicted Effect

probably benign
Transcript: ENSMUST00000040944
AA Change: D427E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047150
Gene: ENSMUSG00000049685
AA Change: D427E

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: 99.8%
3x: 99.6%
10x: 98.5%
20x: 95.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,314,624	V3002A	probably benign	Het
Aifm3	T	C	16: 17,502,940	V422A	probably damaging	Het
Alx3	G	T	3: 107,604,984	E313*	probably null	Het
Arfgef3	A	G	10: 18,652,631	V336A	possibly damaging	Het
Art5	A	T	7: 102,098,011	V187E	probably benign	Het
Atxn1	A	G	13: 45,567,957	V154A	probably benign	Het
B3galt1	A	G	2: 68,118,358	D139G	probably damaging	Het
BC005561	T	C	5: 104,521,635	F1341S	probably benign	Het
Cbx5	A	G	15: 103,199,744	V158A	probably benign	Het
Cdca7l	T	C	12: 117,877,044		probably null	Het
Cecr2	T	C	6: 120,762,214	S1301P	probably benign	Het
Chmp3	T	A	6: 71,561,028	S80T	probably benign	Het
Depdc5	G	A	5: 32,968,706	V1199I	possibly damaging	Het
Ehmt1	G	T	2: 24,863,384	L335M	probably damaging	Het
Elfn2	A	G	15: 78,673,435	V304A	probably damaging	Het
Emc1	C	T	4: 139,367,187	R684W	probably benign	Het
Eme2	A	T	17: 24,894,835	V72E	probably damaging	Het
Fam208b	A	T	13: 3,569,516	D2238E	probably damaging	Het
Gen1	T	A	12: 11,254,373	K230*	probably null	Het
Gfap	T	A	11: 102,897,102	I6F	probably benign	Het
Gm11639	T	C	11: 104,950,200	V3643A	unknown	Het
Grid2	T	C	6: 63,908,907	S96P	probably damaging	Het
H2-M2	A	G	17: 37,483,492	L13P	unknown	Het
Hps4	T	G	5: 112,370,111	C323W	probably benign	Het
Ing3	A	G	6: 21,952,182	K52E	probably damaging	Het
Ippk	C	T	13: 49,446,342	P226S		Het
Klhl3	C	T	13: 58,013,863	V473M	possibly damaging	Het
Krt4	T	A	15: 101,920,289	N380I	probably damaging	Het
Lrp1	A	T	10: 127,605,846	C174S	probably damaging	Het
Lrrc8e	T	C	8: 4,235,575	I600T	probably benign	Het
Malt1	T	C	18: 65,449,609		probably null	Het
Mindy1	T	C	3: 95,294,811	L333P	probably damaging	Het
Mrgprb1	A	G	7: 48,447,934	S77P	probably damaging	Het
Mtus2	G	T	5: 148,076,903	E169*	probably null	Het
Muc5b	A	G	7: 141,862,028	T2904A	possibly damaging	Het
Noxa1	C	T	2: 25,092,541		probably null	Het
Ogfod3	G	A	11: 121,204,550	R5W	probably damaging	Het
Olfr1312	T	A	2: 112,042,637	I132F	probably damaging	Het
Olfr1504	A	G	19: 13,887,389	S274P	probably damaging	Het
Olfr855	T	A	9: 19,584,724	F62L	probably benign	Het
Pgm3	C	A	9: 86,564,775	R230L	probably benign	Het
Plpbp	A	G	8: 27,046,041	I121V	unknown	Het
Prl8a9	T	C	13: 27,559,372	D150G	probably benign	Het
Psapl1	A	G	5: 36,205,575	N504D	probably benign	Het
Ptchd4	A	C	17: 42,503,175	N656H	probably benign	Het
Ptprs	A	T	17: 56,434,532	Y577*	probably null	Het
Rasgef1c	A	G	11: 49,967,401	Y263C	probably damaging	Het
Rinl	A	G	7: 28,790,589		probably null	Het
Scd4	T	C	19: 44,337,506	F100L	probably benign	Het
Scgb2b20	T	G	7: 33,364,544	R100S	probably benign	Het
Scn8a	C	T	15: 101,029,837	A1399V	probably benign	Het
Slc22a7	A	G	17: 46,436,830	V267A	probably benign	Het
Slc7a11	T	C	3: 50,417,991	E263G	possibly damaging	Het
Slmap	A	G	14: 26,422,548	L728P	probably damaging	Het
Smarcb1	A	T	10: 75,910,152		probably null	Het
Sspn	T	C	6: 145,955,635	V80A	possibly damaging	Het
Terb1	T	C	8: 104,468,767	T581A	probably benign	Het
Themis	A	G	10: 28,797,506	*596W	probably null	Het
Trac	T	C	14: 54,223,100		probably benign	Het
Trim37	T	C	11: 87,218,267	F940S	possibly damaging	Het
Trpa1	T	C	1: 14,904,266	T231A	probably benign	Het
Ttn	T	C	2: 76,750,185	I23455V	probably benign	Het
Wap	G	T	11: 6,636,724	T125K	probably benign	Het
Wdfy4	G	A	14: 33,104,115	P1193L		Het
Zfp85	T	C	13: 67,748,774	D393G	possibly 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
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
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'- ATTGTACCCCAGTGTTGTCCTG -3'
(R):5'- CCTATGGCTAGGTTTACTAAATGTTTG -3'

Sequencing Primer
(F):5'- AGTGTTGTCCTGTCACCCATTC -3'
(R):5'- AGTCAGGATCTCACGTTAGCC -3'

Posted On

2020-06-30