Incidental Mutation 'R5877:Gapdhs'
ID 490532
Institutional Source Beutler Lab
Gene Symbol Gapdhs
Ensembl Gene ENSMUSG00000061099
Gene Name glyceraldehyde-3-phosphate dehydrogenase, spermatogenic
Synonyms Gapd-s, Gapds
MMRRC Submission 044083-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R5877 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 30429204-30443106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30431772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 280 (T280A)
Ref Sequence ENSEMBL: ENSMUSP00000138634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006478] [ENSMUST00000074758] [ENSMUST00000182067] [ENSMUST00000182634] [ENSMUST00000208169] [ENSMUST00000207296] [ENSMUST00000209065] [ENSMUST00000207779] [ENSMUST00000207263]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000006478
SMART Domains Protein: ENSMUSP00000006478
Gene: ENSMUSG00000006315

DomainStartEndE-ValueType
Pfam:DUF2053 2 158 3.1e-69 PFAM
transmembrane domain 168 190 N/A INTRINSIC
transmembrane domain 197 219 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000074758
AA Change: T278A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074317
Gene: ENSMUSG00000061099
AA Change: T278A

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
Gp_dh_N 106 254 6.13e-79 SMART
Pfam:Gp_dh_C 259 416 2.3e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180820
SMART Domains Protein: ENSMUSP00000137757
Gene: ENSMUSG00000097320

DomainStartEndE-ValueType
SCOP:d1i7oa2 53 93 5e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182067
SMART Domains Protein: ENSMUSP00000138697
Gene: ENSMUSG00000061099

DomainStartEndE-ValueType
PDB:2VYV|D 1 44 3e-15 PDB
Blast:Gp_dh_N 4 33 9e-7 BLAST
SCOP:d1cf2o2 9 45 3e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182488
Predicted Effect probably damaging
Transcript: ENSMUST00000182634
AA Change: T280A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138634
Gene: ENSMUSG00000061099
AA Change: T280A

DomainStartEndE-ValueType
low complexity region 21 48 N/A INTRINSIC
Gp_dh_N 108 256 6.13e-79 SMART
Pfam:Gp_dh_C 261 418 4.4e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183194
Predicted Effect probably benign
Transcript: ENSMUST00000208169
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207955
Predicted Effect probably benign
Transcript: ENSMUST00000207296
Predicted Effect probably benign
Transcript: ENSMUST00000209065
Predicted Effect probably benign
Transcript: ENSMUST00000207779
Predicted Effect probably benign
Transcript: ENSMUST00000207263
Meta Mutation Damage Score 0.8857 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency 97% (68/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display male infertility and asthenozoospermia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,453,822 (GRCm39) H213L probably damaging Het
Alk A G 17: 72,274,521 (GRCm39) W597R probably damaging Het
Ark2n G T 18: 77,730,902 (GRCm39) probably null Het
Ash1l G A 3: 88,888,891 (GRCm39) V257I probably benign Het
Atp9b C T 18: 80,796,004 (GRCm39) V957I probably benign Het
Birc2 A C 9: 7,849,347 (GRCm39) C576G probably damaging Het
Brca2 T C 5: 150,466,686 (GRCm39) M2150T possibly damaging Het
C3ar1 T G 6: 122,827,581 (GRCm39) D212A probably benign Het
Cacna1s T C 1: 136,028,405 (GRCm39) F914S probably damaging Het
Camk1d T C 2: 5,570,476 (GRCm39) I62V probably benign Het
Caskin1 T C 17: 24,724,239 (GRCm39) M1009T possibly damaging Het
Casp2 A G 6: 42,253,571 (GRCm39) probably benign Het
Cd2bp2 T A 7: 126,793,971 (GRCm39) Y106F probably damaging Het
Celsr3 G A 9: 108,722,926 (GRCm39) C2763Y probably damaging Het
Cyp2g1 T G 7: 26,516,065 (GRCm39) L310V possibly damaging Het
Dusp22 G A 13: 30,891,944 (GRCm39) V99M probably damaging Het
Elp1 A T 4: 56,787,807 (GRCm39) W375R probably damaging Het
Fam131b G A 6: 42,297,913 (GRCm39) S92L probably benign Het
Fbxw10 A T 11: 62,748,542 (GRCm39) N390Y probably damaging Het
Flg2 A T 3: 93,110,756 (GRCm39) H928L unknown Het
Hdac11 A G 6: 91,134,524 (GRCm39) K50E probably damaging Het
Hif3a G T 7: 16,785,071 (GRCm39) A181E probably damaging Het
Itgb8 A G 12: 119,166,271 (GRCm39) S87P probably benign Het
Klhl12 T A 1: 134,411,558 (GRCm39) Y302* probably null Het
Lhx1 C A 11: 84,413,065 (GRCm39) D30Y probably damaging Het
Mrpl40 A G 16: 18,691,135 (GRCm39) Y148H probably damaging Het
Myh13 A T 11: 67,244,484 (GRCm39) H1007L possibly damaging Het
Nhlrc2 T C 19: 56,559,016 (GRCm39) I167T probably damaging Het
Nxpe3 A T 16: 55,686,564 (GRCm39) I148K probably damaging Het
Odf2l A G 3: 144,834,771 (GRCm39) probably null Het
Otud7b C T 3: 96,059,277 (GRCm39) R347* probably null Het
P3h4 G T 11: 100,304,843 (GRCm39) H181Q probably benign Het
P4htm T A 9: 108,460,932 (GRCm39) Y180F possibly damaging Het
Pcna-ps2 A G 19: 9,261,463 (GRCm39) I241V probably benign Het
Pcnx2 T C 8: 126,480,467 (GRCm39) S1947G probably damaging Het
Piezo2 T C 18: 63,247,005 (GRCm39) I336V probably benign Het
Plcd1 T C 9: 118,905,240 (GRCm39) D157G probably damaging Het
Plekhm2 A C 4: 141,367,004 (GRCm39) I212S probably damaging Het
Pmvk G T 3: 89,371,676 (GRCm39) C57F probably benign Het
Pole T C 5: 110,480,329 (GRCm39) S91P probably benign Het
Ppargc1b C G 18: 61,442,164 (GRCm39) D591H probably damaging Het
Ppp4r3b A T 11: 29,159,356 (GRCm39) D570V probably damaging Het
Pxdn T A 12: 30,053,045 (GRCm39) I1074N probably damaging Het
Ralgapa2 A T 2: 146,230,489 (GRCm39) D1025E probably damaging Het
Ralgps1 A G 2: 33,133,640 (GRCm39) probably benign Het
Rasal1 C T 5: 120,817,135 (GRCm39) probably benign Het
Rps2 A T 17: 24,939,890 (GRCm39) probably benign Het
Scn7a G C 2: 66,530,217 (GRCm39) Y709* probably null Het
Skint1 T A 4: 111,878,720 (GRCm39) C217* probably null Het
Slc50a1 T C 3: 89,176,460 (GRCm39) Y82C probably damaging Het
Slc9a4 T C 1: 40,651,423 (GRCm39) V567A probably benign Het
Snx27 A T 3: 94,410,270 (GRCm39) W469R probably damaging Het
Sos2 A G 12: 69,643,569 (GRCm39) L937P probably damaging Het
Ssh1 T C 5: 114,081,181 (GRCm39) T728A probably benign Het
Tnfrsf8 G A 4: 145,019,257 (GRCm39) R193C probably benign Het
Tut4 T C 4: 108,370,120 (GRCm39) V673A probably damaging Het
Usp33 T A 3: 152,085,113 (GRCm39) M583K possibly damaging Het
Usp33 G A 3: 152,085,233 (GRCm39) C623Y probably damaging Het
Wdfy3 T C 5: 102,017,855 (GRCm39) I2562V probably damaging Het
Wnk2 T C 13: 49,220,782 (GRCm39) D1175G probably damaging Het
Zfp341 G A 2: 154,474,209 (GRCm39) E338K probably damaging Het
Zfp398 A G 6: 47,817,638 (GRCm39) probably benign Het
Zp2 T A 7: 119,732,562 (GRCm39) K661N probably null Het
Other mutations in Gapdhs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01611:Gapdhs APN 7 30,429,866 (GRCm39) unclassified probably benign
IGL01667:Gapdhs APN 7 30,436,062 (GRCm39) missense possibly damaging 0.90
IGL02860:Gapdhs APN 7 30,429,308 (GRCm39) splice site probably null
IGL02878:Gapdhs APN 7 30,429,304 (GRCm39) unclassified probably benign
IGL03372:Gapdhs APN 7 30,432,674 (GRCm39) unclassified probably benign
R1662:Gapdhs UTSW 7 30,436,427 (GRCm39) missense probably damaging 1.00
R2255:Gapdhs UTSW 7 30,429,333 (GRCm39) splice site probably null
R4941:Gapdhs UTSW 7 30,432,691 (GRCm39) missense probably benign 0.02
R5059:Gapdhs UTSW 7 30,431,410 (GRCm39) missense probably benign 0.17
R7571:Gapdhs UTSW 7 30,437,383 (GRCm39) missense unknown
R7622:Gapdhs UTSW 7 30,438,756 (GRCm39) missense unknown
R7714:Gapdhs UTSW 7 30,431,349 (GRCm39) missense probably damaging 1.00
R7902:Gapdhs UTSW 7 30,436,146 (GRCm39) missense probably damaging 1.00
R8410:Gapdhs UTSW 7 30,437,335 (GRCm39) missense unknown
R8954:Gapdhs UTSW 7 30,432,591 (GRCm39) missense probably damaging 1.00
R9477:Gapdhs UTSW 7 30,431,682 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGCCAAAGGTCTTCTACTCCC -3'
(R):5'- AACTTCGGGATCGTGGAAGG -3'

Sequencing Primer
(F):5'- TCCTAGGGTGTGTGTCCACC -3'
(R):5'- CTAATGGTGAGTCGGGGCAG -3'
Posted On 2017-10-20