Mutagenetix > Incidental Mutation

Incidental Mutation 'R4469:G6pd2'

329313

Institutional Source

Beutler Lab

Gene Symbol

G6pd2

Ensembl Gene

ENSMUSG00000089992

Gene Name

glucose-6-phosphate dehydrogenase 2

Synonyms

G6pdx-ps1, Gpd-2, Gpd2

MMRRC Submission

041726-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4469 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61966186-61967820 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61966288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 21 (Y21F)

Ref Sequence

ENSEMBL: ENSMUSP00000131163 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053876
AA Change: Y21F

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

SMART Domains

Protein: ENSMUSP00000131163
Gene: ENSMUSG00000089992
AA Change: Y21F

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,606,345 (GRCm39)	K196E	probably damaging	Het
Ackr1	T	C	1: 173,160,112 (GRCm39)		probably null	Het
Adgra1	C	T	7: 139,455,977 (GRCm39)	T535I	probably damaging	Het
Ankrd11	A	G	8: 123,623,326 (GRCm39)	Y310H	probably damaging	Het
Arhgef5	T	C	6: 43,252,033 (GRCm39)	I928T	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Asb4	C	A	6: 5,423,409 (GRCm39)	F185L	probably benign	Het
Ces2g	A	T	8: 105,692,602 (GRCm39)	I301F	probably benign	Het
Chd1	T	C	17: 15,980,657 (GRCm39)	I1308T	probably damaging	Het
Cntnap4	A	T	8: 113,391,898 (GRCm39)	N121I	probably damaging	Het
Csf1	C	T	3: 107,657,997 (GRCm39)		probably null	Het
Dnah7a	T	A	1: 53,483,685 (GRCm39)	H3364L	probably benign	Het
Dnmt3c	A	G	2: 153,562,280 (GRCm39)	T555A	possibly damaging	Het
Dst	A	G	1: 34,230,923 (GRCm39)	T3017A	probably benign	Het
Efcab7	A	G	4: 99,766,901 (GRCm39)	D482G	possibly damaging	Het
Fbxl5	A	G	5: 43,925,528 (GRCm39)	V154A	probably damaging	Het
Flt3	T	C	5: 147,312,454 (GRCm39)		silent	Het
Gm9376	C	T	14: 118,505,011 (GRCm39)	P148S	probably damaging	Het
Gpsm1	G	A	2: 26,209,843 (GRCm39)		probably benign	Het
Gtpbp2	A	G	17: 46,472,239 (GRCm39)	Y58C	probably damaging	Het
Hcrtr2	T	A	9: 76,137,838 (GRCm39)	T426S	probably benign	Het
Herc3	T	A	6: 58,853,794 (GRCm39)	Y613*	probably null	Het
Hsd17b1	A	T	11: 100,970,838 (GRCm39)	M265L	probably benign	Het
Ier3ip1	A	G	18: 77,028,294 (GRCm39)		probably benign	Het
Kif11	A	G	19: 37,404,940 (GRCm39)	M924V	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lancl2	T	A	6: 57,690,019 (GRCm39)	L75H	probably damaging	Het
Mfsd4b1	T	C	10: 39,888,091 (GRCm39)		probably benign	Het
Nlrc5	A	T	8: 95,247,467 (GRCm39)	I1588F	probably damaging	Het
Nostrin	C	G	2: 69,006,061 (GRCm39)	I248M	probably damaging	Het
Or12d14-ps1	A	G	17: 37,673,528 (GRCm39)	I170M	possibly damaging	Het
Or14j1	T	C	17: 38,146,607 (GRCm39)	L239P	probably benign	Het
Qng1	A	G	13: 58,530,239 (GRCm39)	L257P	probably damaging	Het
Rabggta	A	G	14: 55,953,944 (GRCm39)	V266A	probably benign	Het
Ror2	G	A	13: 53,286,016 (GRCm39)	T66M	possibly damaging	Het
Rps6-ps2	A	G	8: 89,533,319 (GRCm39)		noncoding transcript	Het
Skp1	C	T	11: 52,135,905 (GRCm39)	T138I	probably benign	Het
Smad9	T	C	3: 54,690,182 (GRCm39)	V134A	probably damaging	Het
Snx29	T	A	16: 11,238,565 (GRCm39)		probably null	Het
Sos1	A	G	17: 80,761,240 (GRCm39)	I152T	probably damaging	Het
Ssbp2	G	A	13: 91,842,175 (GRCm39)	G302D	probably damaging	Het
Stom	T	C	2: 35,211,545 (GRCm39)	N159D	possibly damaging	Het
Trav16d-dv11	A	G	14: 53,285,035 (GRCm39)	K37R	probably benign	Het
Trim75	A	G	8: 65,436,369 (GRCm39)	V27A	probably damaging	Het
Ttn	T	C	2: 76,548,105 (GRCm39)	T32066A	probably damaging	Het
Txndc11	T	C	16: 10,893,087 (GRCm39)	H881R	probably benign	Het
Ubp1	C	T	9: 113,787,775 (GRCm39)	T222I	probably benign	Het
Unc5cl	C	G	17: 48,766,833 (GRCm39)	P69R	possibly damaging	Het
Zfp616	T	A	11: 73,961,950 (GRCm39)	C24S	probably damaging	Het

Other mutations in G6pd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:G6pd2	APN	5	61,967,406 (GRCm39)	missense	probably benign
IGL01329:G6pd2	APN	5	61,967,281 (GRCm39)	missense	probably damaging	1.00
IGL02072:G6pd2	APN	5	61,966,753 (GRCm39)	missense	probably damaging	1.00
IGL02502:G6pd2	APN	5	61,966,971 (GRCm39)	missense	probably damaging	1.00
IGL02800:G6pd2	APN	5	61,966,735 (GRCm39)	missense	probably damaging	1.00
IGL03012:G6pd2	APN	5	61,966,816 (GRCm39)	missense	probably damaging	1.00
IGL03085:G6pd2	APN	5	61,967,645 (GRCm39)	missense	probably benign
R0505:G6pd2	UTSW	5	61,966,910 (GRCm39)	missense	probably benign
R0632:G6pd2	UTSW	5	61,967,514 (GRCm39)	missense	probably benign
R0658:G6pd2	UTSW	5	61,967,017 (GRCm39)	missense	probably damaging	1.00
R1399:G6pd2	UTSW	5	61,967,361 (GRCm39)	missense	probably benign	0.02
R1918:G6pd2	UTSW	5	61,967,664 (GRCm39)	missense	probably benign
R2077:G6pd2	UTSW	5	61,967,594 (GRCm39)	missense	probably damaging	0.97
R2338:G6pd2	UTSW	5	61,967,351 (GRCm39)	missense	probably benign
R2566:G6pd2	UTSW	5	61,966,330 (GRCm39)	missense	probably damaging	1.00
R2918:G6pd2	UTSW	5	61,966,869 (GRCm39)	missense	probably damaging	1.00
R3963:G6pd2	UTSW	5	61,966,228 (GRCm39)	start codon destroyed	probably null	0.50
R4399:G6pd2	UTSW	5	61,967,516 (GRCm39)	missense	probably benign	0.01
R4560:G6pd2	UTSW	5	61,967,686 (GRCm39)	missense	possibly damaging	0.95
R4563:G6pd2	UTSW	5	61,967,686 (GRCm39)	missense	possibly damaging	0.95
R4914:G6pd2	UTSW	5	61,967,672 (GRCm39)	nonsense	probably null
R5106:G6pd2	UTSW	5	61,967,695 (GRCm39)	missense	probably benign
R5242:G6pd2	UTSW	5	61,966,785 (GRCm39)	missense	probably benign	0.00
R5838:G6pd2	UTSW	5	61,966,568 (GRCm39)	missense	probably benign
R6131:G6pd2	UTSW	5	61,966,593 (GRCm39)	missense	probably benign	0.03
R6200:G6pd2	UTSW	5	61,967,214 (GRCm39)	missense	probably benign	0.00
R7009:G6pd2	UTSW	5	61,966,234 (GRCm39)	missense	probably benign	0.00
R7337:G6pd2	UTSW	5	61,967,562 (GRCm39)	missense	probably benign	0.13
R9694:G6pd2	UTSW	5	61,966,460 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGAGTGGCTACAATGTTGAGCC -3'
(R):5'- GTCATCCACTGTGAGTTGTGAG -3'

Sequencing Primer
(F):5'- GCTACAATGTTGAGCCCTTTG -3'
(R):5'- AGTTGTGAGCGGGCATAGC -3'

Posted On

2015-07-21