Mutagenetix > Incidental Mutation

Incidental Mutation 'R5934:Gapdh'

462097

Institutional Source

Beutler Lab

Gene Symbol

Gapdh

Ensembl Gene

ENSMUSG00000057666

Gene Name

glyceraldehyde-3-phosphate dehydrogenase

Synonyms

Gapd, Gapd

MMRRC Submission

044128-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5934 (G1)

Quality Score

179

Status

Not validated

Chromosome

Chromosomal Location

125138812-125143450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125139664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 202 (V202A)

Ref Sequence

ENSEMBL: ENSMUSP00000113942 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073605] [ENSMUST00000117675] [ENSMUST00000117757] [ENSMUST00000118875] [ENSMUST00000119527] [ENSMUST00000183272] [ENSMUST00000182052] [ENSMUST00000144364] [ENSMUST00000182277]

AlphaFold

P16858

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073605
AA Change: V176A

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000073289
Gene: ENSMUSG00000057666
AA Change: V176A

Domain	Start	End	E-Value	Type
Gp_dh_N	2	143	4.2e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117675

SMART Domains

Protein: ENSMUSP00000113088
Gene: ENSMUSG00000038271

Domain	Start	End	E-Value	Type
coiled coil region	21	58	N/A	INTRINSIC
low complexity region	105	126	N/A	INTRINSIC
coiled coil region	190	242	N/A	INTRINSIC
low complexity region	362	375	N/A	INTRINSIC
low complexity region	381	392	N/A	INTRINSIC
PDB:1GK4\|F	393	459	6e-7	PDB
low complexity region	474	497	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117757
AA Change: V202A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113942
Gene: ENSMUSG00000057666
AA Change: V202A

Domain	Start	End	E-Value	Type
Gp_dh_N	2	150	7.33e-109	SMART
Pfam:Gp_dh_C	155	312	5.2e-74	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118875
AA Change: V176A

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113213
Gene: ENSMUSG00000057666
AA Change: V176A

Domain	Start	End	E-Value	Type
Gp_dh_N	2	150	7.33e-109	SMART
Pfam:Gp_dh_C	155	312	7.4e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119527

SMART Domains

Protein: ENSMUSP00000113376
Gene: ENSMUSG00000038271

Domain	Start	End	E-Value	Type
coiled coil region	21	58	N/A	INTRINSIC
low complexity region	105	126	N/A	INTRINSIC
coiled coil region	190	242	N/A	INTRINSIC
low complexity region	359	372	N/A	INTRINSIC
low complexity region	378	389	N/A	INTRINSIC
PDB:1GK4\|F	390	456	6e-7	PDB
low complexity region	471	494	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139071

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183272
AA Change: V133A

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138508
Gene: ENSMUSG00000057666
AA Change: V133A

Domain	Start	End	E-Value	Type
Gp_dh_N	2	107	7.93e-64	SMART
Pfam:Gp_dh_C	112	269	3e-76	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144588

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144205

Predicted Effect

probably benign
Transcript: ENSMUST00000182052

SMART Domains

Protein: ENSMUSP00000138403
Gene: ENSMUSG00000057666

Domain	Start	End	E-Value	Type
Gp_dh_N	1	55	2.96e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144364

SMART Domains

Protein: ENSMUSP00000116701
Gene: ENSMUSG00000038271

Domain	Start	End	E-Value	Type
coiled coil region	21	58	N/A	INTRINSIC
low complexity region	105	126	N/A	INTRINSIC
coiled coil region	190	242	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182277

SMART Domains

Protein: ENSMUSP00000138295
Gene: ENSMUSG00000057666

Domain	Start	End	E-Value	Type
Gp_dh_N	2	57	2.75e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148835

SMART Domains

Protein: ENSMUSP00000115080
Gene: ENSMUSG00000038271

Domain	Start	End	E-Value	Type
Filament	34	348	4.99e-2	SMART
low complexity region	356	379	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the glyceraldehyde-3-phosphate dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein was originally identified as a key glycolytic enzyme that converts D-glyceraldehyde 3-phosphate (G3P) into 3-phospho-D-glyceroyl phosphate. Subsequent studies have assigned a variety of additional functions to the protein including nitrosylation of nuclear proteins, the regulation of mRNA stability, and acting as a transferrin receptor on the cell surface of macrophage. Alternative splicing results in multiple transcript variants. Many pseudogenes similar to this locus are found throughout the mouse genome. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mutant heterozygotes show reduced enzyme levels. The currently known mutant allels are homozygous lethal. [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
Abcb4	T	C	5: 8,980,806 (GRCm39)	V596A	probably benign	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Afg1l	G	A	10: 42,194,682 (GRCm39)	T370M	probably damaging	Het
Aldh2	T	C	5: 121,717,678 (GRCm39)	T118A	probably benign	Het
Apcdd1	C	T	18: 63,084,940 (GRCm39)	A379V	possibly damaging	Het
Atp1a3	T	C	7: 24,678,299 (GRCm39)		probably benign	Het
Calhm5	A	G	10: 33,968,198 (GRCm39)	V285A	possibly damaging	Het
Cd96	G	T	16: 45,938,266 (GRCm39)	D66E	probably benign	Het
Cdh5	T	A	8: 104,864,900 (GRCm39)	V506E	probably benign	Het
Cep70	T	C	9: 99,136,318 (GRCm39)	I7T	probably benign	Het
Ckb	A	T	12: 111,636,663 (GRCm39)	V237D	probably damaging	Het
Col6a6	C	T	9: 105,644,274 (GRCm39)	D1306N	probably damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Ddhd2	A	G	8: 26,243,140 (GRCm39)	S19P	probably damaging	Het
Dnah17	G	T	11: 117,931,928 (GRCm39)	D3681E	probably benign	Het
Dop1a	T	A	9: 86,424,495 (GRCm39)	Y2068*	probably null	Het
Fryl	T	C	5: 73,248,060 (GRCm39)	Y1019C	probably damaging	Het
Fsip2	G	A	2: 82,817,092 (GRCm39)	C4275Y	possibly damaging	Het
Gmeb2	T	C	2: 180,897,367 (GRCm39)	I250M	possibly damaging	Het
Gpr88	C	T	3: 116,045,958 (GRCm39)	G118R	probably damaging	Het
Hdhd3	C	A	4: 62,417,607 (GRCm39)	V190L	possibly damaging	Het
Heg1	C	T	16: 33,547,289 (GRCm39)	T461M	probably damaging	Het
Hspg2	A	G	4: 137,246,083 (GRCm39)	Y989C	probably damaging	Het
Ift74	A	T	4: 94,520,971 (GRCm39)	M175L	probably benign	Het
Kcnh3	G	A	15: 99,124,414 (GRCm39)	R101Q	possibly damaging	Het
Kif20b	G	T	19: 34,918,721 (GRCm39)	V702F	probably benign	Het
Klhl1	A	G	14: 96,360,651 (GRCm39)		probably null	Het
Lrrk2	T	C	15: 91,618,249 (GRCm39)	V916A	probably benign	Het
Macir	A	T	1: 97,573,655 (GRCm39)	C137S	possibly damaging	Het
Mpp4	A	T	1: 59,160,535 (GRCm39)	D589E	probably damaging	Het
Msl2	T	C	9: 100,979,017 (GRCm39)	C464R	probably damaging	Het
Mucl2	A	T	15: 103,927,832 (GRCm39)	S42T	probably benign	Het
Musk	T	A	4: 58,373,613 (GRCm39)	L838Q	probably damaging	Het
Nos1	A	G	5: 118,074,510 (GRCm39)	H1052R	probably damaging	Het
Or10d4b	C	T	9: 39,534,479 (GRCm39)	T20I	probably damaging	Het
Or10v1	A	G	19: 11,874,293 (GRCm39)	R303G	probably benign	Het
Or1j20	T	A	2: 36,760,280 (GRCm39)	I234N	probably benign	Het
Or2at1	A	T	7: 99,416,596 (GRCm39)	I76F	probably damaging	Het
Or4d2	T	C	11: 87,784,049 (GRCm39)	R234G	possibly damaging	Het
Or52e15	C	A	7: 104,645,385 (GRCm39)	C242F	probably damaging	Het
Or56a5	G	A	7: 104,792,867 (GRCm39)	S211F	probably benign	Het
Or5w8	T	C	2: 87,687,585 (GRCm39)	V22A	probably benign	Het
Or8u8	T	A	2: 86,012,446 (GRCm39)	Q3L	probably benign	Het
Pard3	T	G	8: 128,115,819 (GRCm39)	L636R	probably damaging	Het
Pigr	A	T	1: 130,772,264 (GRCm39)	S161C	probably damaging	Het
Polr1e	T	C	4: 45,029,369 (GRCm39)	S325P	probably damaging	Het
Prrc2a	A	T	17: 35,369,060 (GRCm39)	V1992E	probably damaging	Het
Psma5-ps	T	C	10: 85,150,145 (GRCm39)		noncoding transcript	Het
Ptpdc1	T	C	13: 48,739,845 (GRCm39)	K468E	probably benign	Het
Rab22a	A	G	2: 173,503,297 (GRCm39)	T37A	probably damaging	Het
Rai14	T	A	15: 10,575,245 (GRCm39)	K571I	probably damaging	Het
Reck	G	A	4: 43,930,979 (GRCm39)	G660D	probably damaging	Het
Rgs4	T	C	1: 169,572,807 (GRCm39)	D43G	possibly damaging	Het
Ryr2	A	T	13: 11,599,040 (GRCm39)	D4645E	probably damaging	Het
Sf3b3	A	G	8: 111,550,102 (GRCm39)	S639P	probably damaging	Het
Slc27a4	G	T	2: 29,701,672 (GRCm39)	R430L	probably damaging	Het
Slfn1	T	A	11: 83,012,770 (GRCm39)	Y295*	probably null	Het
Slfn5	C	T	11: 82,847,418 (GRCm39)	S101L	probably damaging	Het
Sult1d1	CCATG	CCATGGCATG	5: 87,707,629 (GRCm39)		probably null	Het
Tchh	A	T	3: 93,351,419 (GRCm39)	Q286H	unknown	Het
Tmem184c	A	T	8: 78,331,352 (GRCm39)	Y172*	probably null	Het
Tsc22d1	T	G	14: 76,656,266 (GRCm39)	M833R	possibly damaging	Het
Ugt1a7c	G	T	1: 88,023,601 (GRCm39)	L253F	probably damaging	Het
Usp19	C	T	9: 108,369,766 (GRCm39)		probably benign	Het
Xirp2	T	A	2: 67,355,148 (GRCm39)	I3303K	possibly damaging	Het
Zfp574	G	A	7: 24,779,757 (GRCm39)	A260T	probably benign	Het
Zswim6	A	G	13: 107,880,642 (GRCm39)		noncoding transcript	Het

Other mutations in Gapdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Gapdh	APN	6	125,139,470 (GRCm39)	missense	probably damaging	0.99
R2203:Gapdh	UTSW	6	125,139,569 (GRCm39)	missense	probably benign	0.18
R3195:Gapdh	UTSW	6	125,139,583 (GRCm39)	missense	possibly damaging	0.94
R4181:Gapdh	UTSW	6	125,142,197 (GRCm39)	intron	probably benign
R4480:Gapdh	UTSW	6	125,140,145 (GRCm39)	missense	possibly damaging	0.55
R6019:Gapdh	UTSW	6	125,139,996 (GRCm39)	nonsense	probably null
R6034:Gapdh	UTSW	6	125,142,261 (GRCm39)	missense	probably benign	0.25
R6212:Gapdh	UTSW	6	125,139,661 (GRCm39)	missense	probably damaging	1.00
R6776:Gapdh	UTSW	6	125,139,236 (GRCm39)	missense	probably damaging	1.00
R6928:Gapdh	UTSW	6	125,139,634 (GRCm39)	missense	probably damaging	1.00
R7188:Gapdh	UTSW	6	125,142,403 (GRCm39)	intron	probably benign
R7330:Gapdh	UTSW	6	125,139,900 (GRCm39)	missense	probably benign	0.03
R7777:Gapdh	UTSW	6	125,139,911 (GRCm39)	nonsense	probably null
R8027:Gapdh	UTSW	6	125,139,331 (GRCm39)	missense	probably benign	0.05
R8343:Gapdh	UTSW	6	125,140,226 (GRCm39)	missense	probably benign	0.05
R8737:Gapdh	UTSW	6	125,139,017 (GRCm39)	missense	probably benign	0.00
R9304:Gapdh	UTSW	6	125,139,819 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ACATACAGGTTTCTCCAGGCG -3'
(R):5'- GACAACTTTGGCATTGTGGAAG -3'

Sequencing Primer
(F):5'- TCCACGACGGACACATTGG -3'
(R):5'- AAGGGCTCATGGTATGTAGGC -3'

Posted On

2017-02-28