Mutagenetix > Incidental Mutations

Incidental Mutation 'R6131:G6pd2'

487124

Institutional Source

Beutler Lab

Gene Symbol

G6pd2

Ensembl Gene

ENSMUSG00000089992

Gene Name

glucose-6-phosphate dehydrogenase 2

Synonyms

Gpd2, Gpd-2, G6pdx-ps1

MMRRC Submission

044278-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6131 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61808816-61811163 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61809250 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 123 (S123C)

Ref Sequence

ENSEMBL: ENSMUSP00000131163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053876]

Predicted Effect

probably benign
Transcript: ENSMUST00000053876
AA Change: S123C

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000131163
Gene: ENSMUSG00000089992
AA Change: S123C

Domain	Start	End	E-Value	Type
Pfam:G6PD_N	35	210	4.1e-60	PFAM
Pfam:G6PD_C	212	504	9.9e-119	PFAM

Meta Mutation Damage Score

0.0708

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,960,592	W75R	probably damaging	Het
Abca15	T	C	7: 120,340,205	V274A	probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ap1m2	T	C	9: 21,296,501	Y396C	probably damaging	Het
Apob	T	C	12: 8,015,874	S405P	probably benign	Het
Arhgap26	G	T	18: 39,286,585	G533*	probably null	Het
Atxn2l	T	C	7: 126,503,165		probably benign	Het
Ccdc88c	A	T	12: 100,941,128	L995H	probably damaging	Het
Cep192	A	G	18: 67,837,997	H1023R	possibly damaging	Het
Cog5	T	A	12: 31,886,221	M589K	possibly damaging	Het
Col25a1	C	A	3: 130,535,465	P337Q	probably damaging	Het
Cyfip1	T	G	7: 55,873,480	V51G	possibly damaging	Het
Dnah7b	A	T	1: 46,253,466	I3004F	probably damaging	Het
Dsg3	A	T	18: 20,538,512	D758V	probably damaging	Het
Dsg3	A	G	18: 20,520,477		probably null	Het
Eml5	A	T	12: 98,861,251	H573Q	probably damaging	Het
Erp27	T	C	6: 136,908,203	D199G	probably damaging	Het
Flnb	A	G	14: 7,894,635	Y811C	possibly damaging	Het
Gm17677	T	A	9: 35,741,544	C27*	probably null	Het
Gm1818	T	A	12: 48,555,536		noncoding transcript	Het
Gm29340	C	T	2: 116,968,038		noncoding transcript	Het
Gm8298	A	G	3: 59,868,903	K165R	possibly damaging	Het
Hcn2	G	T	10: 79,733,908	G581W	probably damaging	Het
Hist1h2bf	C	A	13: 23,574,136		probably benign	Het
Kidins220	T	C	12: 24,992,314		probably null	Het
Lonp1	T	C	17: 56,614,457	E926G	probably benign	Het
Lrp1	T	C	10: 127,560,157	I2415V	probably benign	Het
Mmel1	C	T	4: 154,895,018	H728Y	probably damaging	Het
Mmp10	A	G	9: 7,503,632		probably null	Het
Myo16	T	A	8: 10,569,877	I1476N	probably benign	Het
Nectin3	G	T	16: 46,395,152	H76N	probably damaging	Het
Nov	A	G	15: 54,749,360	D255G	probably benign	Het
Nphs2	G	A	1: 156,325,951	R204Q	probably damaging	Het
Olfr194	T	C	16: 59,119,893	Y59C	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Olfr920	T	A	9: 38,756,066	I126N	probably damaging	Het
Otx1	A	T	11: 21,999,406	L24H	probably damaging	Het
Psme2b	T	C	11: 48,945,925	D65G	probably damaging	Het
Rlf	T	C	4: 121,154,975	K214E	probably damaging	Het
Rnasel	A	T	1: 153,754,460	T241S	probably damaging	Het
Samd9l	C	G	6: 3,377,252	G3A	probably benign	Het
Smg7	A	G	1: 152,845,211		probably null	Het
Spag16	A	G	1: 70,725,083		probably null	Het
Spata31d1c	T	A	13: 65,035,671	D342E	probably benign	Het
Stab2	A	G	10: 86,883,778		probably null	Het
Taar7b	A	T	10: 24,000,717	Y260F	probably benign	Het
Vcpip1	T	C	1: 9,747,292	I289V	probably damaging	Het
Vmn2r39	A	G	7: 9,014,964	V791A	probably damaging	Het
Vmn2r66	T	A	7: 84,995,016	I729F	probably damaging	Het
Vmn2r-ps130	C	T	17: 23,063,655	A103V	probably benign	Het
Zfp536	T	A	7: 37,569,712	D93V	probably damaging	Het

Other mutations in G6pd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:G6pd2	APN	5	61810063	missense	probably benign
IGL01329:G6pd2	APN	5	61809938	missense	probably damaging	1.00
IGL02072:G6pd2	APN	5	61809410	missense	probably damaging	1.00
IGL02502:G6pd2	APN	5	61809628	missense	probably damaging	1.00
IGL02800:G6pd2	APN	5	61809392	missense	probably damaging	1.00
IGL03012:G6pd2	APN	5	61809473	missense	probably damaging	1.00
IGL03085:G6pd2	APN	5	61810302	missense	probably benign
R0505:G6pd2	UTSW	5	61809567	missense	probably benign
R0632:G6pd2	UTSW	5	61810171	missense	probably benign
R0658:G6pd2	UTSW	5	61809674	missense	probably damaging	1.00
R1399:G6pd2	UTSW	5	61810018	missense	probably benign	0.02
R1918:G6pd2	UTSW	5	61810321	missense	probably benign
R2077:G6pd2	UTSW	5	61810251	missense	probably damaging	0.97
R2338:G6pd2	UTSW	5	61810008	missense	probably benign
R2566:G6pd2	UTSW	5	61808987	missense	probably damaging	1.00
R2918:G6pd2	UTSW	5	61809526	missense	probably damaging	1.00
R3963:G6pd2	UTSW	5	61808885	start codon destroyed	probably null	0.50
R4399:G6pd2	UTSW	5	61810173	missense	probably benign	0.01
R4469:G6pd2	UTSW	5	61808945	missense	probably benign
R4560:G6pd2	UTSW	5	61810343	missense	possibly damaging	0.95
R4563:G6pd2	UTSW	5	61810343	missense	possibly damaging	0.95
R4914:G6pd2	UTSW	5	61810329	nonsense	probably null
R5106:G6pd2	UTSW	5	61810352	missense	probably benign
R5242:G6pd2	UTSW	5	61809442	missense	probably benign	0.00
R5838:G6pd2	UTSW	5	61809225	missense	probably benign
R6200:G6pd2	UTSW	5	61809871	missense	probably benign	0.00
R7009:G6pd2	UTSW	5	61808891	missense	probably benign	0.00
R7337:G6pd2	UTSW	5	61810219	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- CAAAGAAACCTTCATTGTGGGC -3'
(R):5'- TCTGGTCTTCACGGAAAAGAG -3'

Sequencing Primer
(F):5'- AGAAACCTTCATTGTGGGCTATGC -3'
(R):5'- ACAATTGATTGGAGCTCTGCAG -3'

Posted On

2017-10-10