Mutagenetix > Incidental Mutation

Incidental Mutation 'R6212:Gapdh'

503499

Institutional Source

Beutler Lab

Gene Symbol

Gapdh

Ensembl Gene

ENSMUSG00000057666

Gene Name

glyceraldehyde-3-phosphate dehydrogenase

Synonyms

Gapd, Gapd

MMRRC Submission

044345-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6212 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125138812-125143450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125139661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 203 (H203R)

Ref Sequence

ENSEMBL: ENSMUSP00000113942 (fasta)

Gene Model

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

AlphaFold

P16858

Predicted Effect

probably benign
Transcript: ENSMUST00000073605
AA Change: H177R

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000073289
Gene: ENSMUSG00000057666
AA Change: H177R

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: H203R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113942
Gene: ENSMUSG00000057666
AA Change: H203R

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

probably benign
Transcript: ENSMUST00000118875
AA Change: H177R

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113213
Gene: ENSMUSG00000057666
AA Change: H177R

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: H134R

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138508
Gene: ENSMUSG00000057666
AA Change: H134R

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

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

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

noncoding transcript
Transcript: ENSMUST00000144205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144588

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

noncoding transcript
Transcript: ENSMUST00000141230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182464

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.2%

Validation Efficiency

96% (52/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	A	7: 119,172,505 (GRCm39)	I116N	probably damaging	Het
Ap3b1	T	C	13: 94,587,581 (GRCm39)	S452P	probably damaging	Het
Ap3b1	C	A	13: 94,630,207 (GRCm39)	H821N	unknown	Het
Apex1	C	T	14: 51,164,350 (GRCm39)	P264S	probably benign	Het
Arhgap27	T	C	11: 103,251,698 (GRCm39)	Y10C	probably damaging	Het
Bag6	A	G	17: 35,359,278 (GRCm39)	T208A	probably benign	Het
Brd4	G	T	17: 32,421,423 (GRCm39)	P771Q	probably damaging	Het
Capn3	A	G	2: 120,307,667 (GRCm39)	S69G	probably benign	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Celsr1	T	C	15: 85,800,888 (GRCm39)	H2519R	probably benign	Het
Chd8	T	A	14: 52,439,155 (GRCm39)	N48I	probably damaging	Het
Cmip	T	C	8: 118,103,895 (GRCm39)	Y128H	probably damaging	Het
Dnhd1	C	T	7: 105,353,255 (GRCm39)	P2803S	probably damaging	Het
Dusp26	G	A	8: 31,584,252 (GRCm39)	D120N	probably damaging	Het
Epha6	T	C	16: 60,245,719 (GRCm39)	H160R	possibly damaging	Het
Erg	C	T	16: 95,180,022 (GRCm39)	V215I	probably damaging	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Gabbr2	T	C	4: 46,681,189 (GRCm39)	D124G	probably damaging	Het
Garin1b	T	C	6: 29,319,373 (GRCm39)	L59P	probably damaging	Het
Ggnbp2	T	C	11: 84,727,503 (GRCm39)	M42V	possibly damaging	Het
Hk2	C	A	6: 82,705,823 (GRCm39)	A827S	probably benign	Het
Hoxa5	T	C	6: 52,179,694 (GRCm39)	E227G	probably damaging	Het
Itgax	C	A	7: 127,729,504 (GRCm39)	H31N	possibly damaging	Het
Itgax	A	G	7: 127,747,025 (GRCm39)	D942G	probably benign	Het
Kars1	A	T	8: 112,726,829 (GRCm39)		probably null	Het
Lama3	T	C	18: 12,646,702 (GRCm39)	F1739L	probably damaging	Het
Map2k1	A	T	9: 64,112,445 (GRCm39)	L155Q	probably damaging	Het
Mcf2l	A	T	8: 13,067,431 (GRCm39)	D1013V	probably damaging	Het
Mocs1	G	A	17: 49,742,224 (GRCm39)	G118S	probably damaging	Het
Ncam2	T	C	16: 81,229,650 (GRCm39)	S37P	probably damaging	Het
Nfxl1	A	G	5: 72,673,553 (GRCm39)		probably null	Het
Nodal	C	T	10: 61,259,300 (GRCm39)	H246Y	possibly damaging	Het
Nwd1	G	A	8: 73,421,950 (GRCm39)	V999M	possibly damaging	Het
Oaz3	T	A	3: 94,342,375 (GRCm39)	T139S	probably benign	Het
Or6z6	T	C	7: 6,491,367 (GRCm39)		probably null	Het
Or7e165	A	G	9: 19,694,585 (GRCm39)	D52G	probably damaging	Het
P3h3	T	A	6: 124,822,606 (GRCm39)	T522S	probably benign	Het
Pgap1	A	G	1: 54,554,052 (GRCm39)	F457S	probably damaging	Het
Prkce	T	C	17: 86,866,729 (GRCm39)	Y530H	probably damaging	Het
Ptpn3	A	T	4: 57,270,070 (GRCm39)	C31S	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Serpinb6e	T	A	13: 34,025,220 (GRCm39)	N24Y	probably damaging	Het
Slc4a8	T	C	15: 100,709,452 (GRCm39)	V937A	possibly damaging	Het
Smgc	T	A	15: 91,734,830 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,148,861 (GRCm39)	N2027K	probably damaging	Het
Stra6l	T	C	4: 45,884,664 (GRCm39)	Y565H	probably benign	Het
Tmem262	A	G	19: 6,130,668 (GRCm39)	E62G	possibly damaging	Het
Tnrc6a	T	A	7: 122,742,965 (GRCm39)		probably null	Het
Txlnb	T	C	10: 17,675,057 (GRCm39)	I70T	probably damaging	Het
Whrn	A	T	4: 63,412,923 (GRCm39)	L25*	probably null	Het
Zfp326	T	A	5: 106,058,097 (GRCm39)	V412E	probably damaging	Het
Zfp831	A	G	2: 174,487,661 (GRCm39)	R779G	possibly damaging	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
R5934:Gapdh	UTSW	6	125,139,664 (GRCm39)	missense	probably damaging	0.98
R6019:Gapdh	UTSW	6	125,139,996 (GRCm39)	nonsense	probably null
R6034:Gapdh	UTSW	6	125,142,261 (GRCm39)	missense	probably benign	0.25
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'- CATACAGGTTTCTCCAGGCG -3'
(R):5'- GACAACTTTGGCATTGTGGAAGG -3'

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

Posted On

2018-02-27