Incidental Mutation 'R8343:Gapdh'
ID 645012
Institutional Source Beutler Lab
Gene Symbol Gapdh
Ensembl Gene ENSMUSG00000057666
Gene Name glyceraldehyde-3-phosphate dehydrogenase
Synonyms Gapd, Gapd
MMRRC Submission 067866-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8343 (G1)
Quality Score 123.008
Status Not validated
Chromosome 6
Chromosomal Location 125138812-125143450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125140226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 92 (V92A)
Ref Sequence ENSEMBL: ENSMUSP00000113942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043848] [ENSMUST00000073605] [ENSMUST00000117675] [ENSMUST00000117757] [ENSMUST00000118875] [ENSMUST00000119527] [ENSMUST00000144364] [ENSMUST00000182052] [ENSMUST00000182277] [ENSMUST00000183272]
AlphaFold P16858
Predicted Effect probably benign
Transcript: ENSMUST00000043848
SMART Domains Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252

DomainStartEndE-ValueType
Pfam:Cnd1_N 75 240 1.4e-41 PFAM
low complexity region 461 472 N/A INTRINSIC
low complexity region 936 949 N/A INTRINSIC
Pfam:Cnd1 1058 1224 2.5e-65 PFAM
low complexity region 1329 1345 N/A INTRINSIC
low complexity region 1357 1369 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073605
AA Change: V66A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000073289
Gene: ENSMUSG00000057666
AA Change: V66A

DomainStartEndE-ValueType
Gp_dh_N 2 143 4.2e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117675
SMART Domains Protein: ENSMUSP00000113088
Gene: ENSMUSG00000038271

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000117757
AA Change: V92A

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113942
Gene: ENSMUSG00000057666
AA Change: V92A

DomainStartEndE-ValueType
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: V66A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000113213
Gene: ENSMUSG00000057666
AA Change: V66A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000144364
SMART Domains Protein: ENSMUSP00000116701
Gene: ENSMUSG00000038271

DomainStartEndE-ValueType
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: ENSMUST00000148835
SMART Domains Protein: ENSMUSP00000115080
Gene: ENSMUSG00000038271

DomainStartEndE-ValueType
Filament 34 348 4.99e-2 SMART
low complexity region 356 379 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182052
AA Change: V26A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000138403
Gene: ENSMUSG00000057666
AA Change: V26A

DomainStartEndE-ValueType
Gp_dh_N 1 55 2.96e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182277
SMART Domains Protein: ENSMUSP00000138295
Gene: ENSMUSG00000057666

DomainStartEndE-ValueType
Gp_dh_N 2 57 2.75e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183272
AA Change: V23A

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138508
Gene: ENSMUSG00000057666
AA Change: V23A

DomainStartEndE-ValueType
Gp_dh_N 2 107 7.93e-64 SMART
Pfam:Gp_dh_C 112 269 3e-76 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (64/66)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,767,361 (GRCm39) W156R probably damaging Het
Acvr1 T A 2: 58,364,286 (GRCm39) probably null Het
Adamts2 G T 11: 50,494,315 (GRCm39) V130L probably damaging Het
Adcy4 C T 14: 56,012,697 (GRCm39) V541I probably benign Het
Adgrl2 C T 3: 148,552,542 (GRCm39) V654I probably damaging Het
Ago3 T A 4: 126,270,721 (GRCm39) K258* probably null Het
Akap11 A T 14: 78,749,929 (GRCm39) S819R Het
Alox5ap T C 5: 149,224,419 (GRCm39) F121L probably damaging Het
Baz2b A T 2: 59,731,858 (GRCm39) M2060K probably damaging Het
Bltp3b T C 10: 89,627,281 (GRCm39) S449P probably benign Het
C030005K15Rik T C 10: 97,561,414 (GRCm39) I106V unknown Het
Carmil2 T A 8: 106,417,716 (GRCm39) S604T probably benign Het
Ccdc121rt2 C T 5: 112,598,653 (GRCm39) T400I probably benign Het
Cdhr1 T C 14: 36,813,935 (GRCm39) T164A probably benign Het
Dhx30 T C 9: 109,914,569 (GRCm39) E976G possibly damaging Het
Dnah17 C T 11: 118,005,021 (GRCm39) G788R probably benign Het
Dus2 T C 8: 106,722,645 (GRCm39) probably benign Het
Etv6 T C 6: 134,225,717 (GRCm39) V316A possibly damaging Het
Fabp9 T G 3: 10,259,085 (GRCm39) K107T possibly damaging Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Gfy A G 7: 44,826,019 (GRCm39) L453P probably damaging Het
Gp2 C T 7: 119,042,010 (GRCm39) C505Y probably benign Het
Gtpbp8 T C 16: 44,566,676 (GRCm39) R9G probably benign Het
Hipk4 G T 7: 27,223,033 (GRCm39) R31L probably damaging Het
Htt T A 5: 35,063,068 (GRCm39) M2900K probably damaging Het
Ighv1-20 T C 12: 114,687,810 (GRCm39) I6V probably benign Het
Il17d C T 14: 57,779,937 (GRCm39) T153I probably damaging Het
Izumo3 T A 4: 92,034,581 (GRCm39) N117I probably damaging Het
Kcnh7 T C 2: 62,680,879 (GRCm39) D236G probably benign Het
Kmt2d T C 15: 98,750,478 (GRCm39) D2405G unknown Het
Map4k2 T C 19: 6,396,596 (GRCm39) W533R probably damaging Het
Matn1 C A 4: 130,673,300 (GRCm39) Y89* probably null Het
Mettl18 T A 1: 163,824,509 (GRCm39) Y277N probably damaging Het
Muc5b G A 7: 141,417,898 (GRCm39) G3615S probably benign Het
Mycbp2 A C 14: 103,398,111 (GRCm39) probably null Het
Myh4 T A 11: 67,143,390 (GRCm39) S1041T possibly damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naaladl1 T C 19: 6,159,703 (GRCm39) V378A possibly damaging Het
Nars1 T C 18: 64,637,458 (GRCm39) D374G probably benign Het
Neb C T 2: 52,198,283 (GRCm39) probably null Het
Neurl1b A G 17: 26,650,965 (GRCm39) Y79C probably damaging Het
Nynrin A G 14: 56,101,248 (GRCm39) T306A probably benign Het
Ola1 G T 2: 73,029,745 (GRCm39) R125S probably damaging Het
Or12d15 T A 17: 37,694,122 (GRCm39) F221L probably benign Het
Or51a43 A T 7: 103,717,383 (GRCm39) V285D probably damaging Het
Pak1ip1 C A 13: 41,158,214 (GRCm39) T29K probably benign Het
Podnl1 T A 8: 84,857,402 (GRCm39) L337H Het
Rictor T G 15: 6,807,800 (GRCm39) probably null Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Sel1l2 T C 2: 140,072,753 (GRCm39) I627M probably benign Het
Sh3rf2 T C 18: 42,244,493 (GRCm39) S352P probably damaging Het
Slc6a6 G A 6: 91,703,224 (GRCm39) W199* probably null Het
Smc2 T A 4: 52,450,965 (GRCm39) V261E probably benign Het
Sorcs3 G A 19: 48,692,808 (GRCm39) probably null Het
Spdye4a T A 5: 143,211,562 (GRCm39) M1L probably benign Het
Stag1 T C 9: 100,639,819 (GRCm39) I125T possibly damaging Het
Stx8 T A 11: 67,911,814 (GRCm39) D177E probably benign Het
Sun2 T C 15: 79,623,125 (GRCm39) Y71C probably damaging Het
Tmed9 T C 13: 55,742,617 (GRCm39) F129L probably benign Het
Tmem216 T A 19: 10,529,336 (GRCm39) T17S probably benign Het
Tmpo A T 10: 90,997,974 (GRCm39) N604K probably benign Het
Tmprss11f T A 5: 86,681,666 (GRCm39) I196F probably benign Het
Tnks A G 8: 35,301,738 (GRCm39) F1244L probably benign Het
Tspan2 T C 3: 102,676,226 (GRCm39) C212R probably damaging Het
Tspan4 A G 7: 141,071,718 (GRCm39) D155G probably damaging Het
Ttc6 T C 12: 57,707,282 (GRCm39) F730L possibly damaging Het
Txnrd2 G A 16: 18,245,291 (GRCm39) A33T unknown Het
Wnk1 C T 6: 119,940,454 (GRCm39) R761H probably damaging Het
Zfp217 T C 2: 169,962,024 (GRCm39) D101G probably damaging Het
Zfp281 T C 1: 136,555,620 (GRCm39) F866S probably damaging Het
Other mutations in Gapdh
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CTTGGTTTTCAGGTTGCACC -3'
(R):5'- AGGAGTTCTGATCTCAGCTCCC -3'

Sequencing Primer
(F):5'- TTCAGGTTGCACCATATCAAGGG -3'
(R):5'- CTTGTCTTTCAGATTTGGCCG -3'
Posted On 2020-09-02