Incidental Mutation 'R6801:Gmppa'
ID 533315
Institutional Source Beutler Lab
Gene Symbol Gmppa
Ensembl Gene ENSMUSG00000033021
Gene Name GDP-mannose pyrophosphorylase A
Synonyms 1810012N01Rik
MMRRC Submission 044914-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.452) question?
Stock # R6801 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 75412574-75419823 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 75418391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 258 (S258C)
Ref Sequence ENSEMBL: ENSMUSP00000109214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037796] [ENSMUST00000113584] [ENSMUST00000131545] [ENSMUST00000133418] [ENSMUST00000140287] [ENSMUST00000141124] [ENSMUST00000143730] [ENSMUST00000144874] [ENSMUST00000145166] [ENSMUST00000188097]
AlphaFold Q922H4
Predicted Effect possibly damaging
Transcript: ENSMUST00000037796
AA Change: S258C

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000035564
Gene: ENSMUSG00000033021
AA Change: S258C

DomainStartEndE-ValueType
Pfam:NTP_transferase 3 209 1.2e-30 PFAM
Pfam:NTP_transf_3 4 206 4.1e-10 PFAM
Pfam:Hexapep 280 321 2.6e-8 PFAM
low complexity region 357 365 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113584
AA Change: S258C

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109214
Gene: ENSMUSG00000033021
AA Change: S258C

DomainStartEndE-ValueType
Pfam:NTP_transferase 3 209 1.6e-28 PFAM
Pfam:NTP_transf_3 4 206 1.6e-9 PFAM
Pfam:Hexapep 286 321 4.3e-8 PFAM
low complexity region 357 365 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131545
SMART Domains Protein: ENSMUSP00000120841
Gene: ENSMUSG00000033021

DomainStartEndE-ValueType
Pfam:NTP_transferase 3 209 7.2e-31 PFAM
Pfam:NTP_transf_3 4 157 1.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133418
SMART Domains Protein: ENSMUSP00000122443
Gene: ENSMUSG00000033021

DomainStartEndE-ValueType
Pfam:NTP_transferase 3 209 6.8e-31 PFAM
Pfam:NTP_transf_3 4 204 1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140287
SMART Domains Protein: ENSMUSP00000121552
Gene: ENSMUSG00000033021

DomainStartEndE-ValueType
Pfam:NTP_transferase 3 161 1.7e-22 PFAM
Pfam:NTP_transf_3 4 155 6.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141124
SMART Domains Protein: ENSMUSP00000116783
Gene: ENSMUSG00000033021

DomainStartEndE-ValueType
Pfam:NTP_transferase 3 72 1.1e-13 PFAM
Pfam:NTP_transf_3 4 71 1.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143730
SMART Domains Protein: ENSMUSP00000114375
Gene: ENSMUSG00000033021

DomainStartEndE-ValueType
Pfam:NTP_transferase 3 196 1.1e-30 PFAM
Pfam:NTP_transf_3 4 173 9.2e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144874
SMART Domains Protein: ENSMUSP00000121418
Gene: ENSMUSG00000033021

DomainStartEndE-ValueType
Pfam:NTP_transferase 1 174 6.6e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145166
SMART Domains Protein: ENSMUSP00000116754
Gene: ENSMUSG00000033021

DomainStartEndE-ValueType
Pfam:NTP_transferase 3 91 5.2e-15 PFAM
Pfam:NTP_transf_3 4 88 1.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188097
SMART Domains Protein: ENSMUSP00000139936
Gene: ENSMUSG00000033021

DomainStartEndE-ValueType
Pfam:NTP_transferase 1 150 2.3e-15 PFAM
Pfam:NTP_transf_3 2 142 9.8e-7 PFAM
Meta Mutation Damage Score 0.4158 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.8%
Validation Efficiency 100% (49/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T A 8: 25,174,680 (GRCm39) Y695F possibly damaging Het
Arhgap20 A G 9: 51,759,892 (GRCm39) D545G probably damaging Het
Arhgef11 A G 3: 87,643,159 (GRCm39) E1457G possibly damaging Het
Atp2b4 T A 1: 133,655,524 (GRCm39) I747F probably damaging Het
Bche T A 3: 73,609,133 (GRCm39) I98L probably benign Het
C2cd6 TC T 1: 59,133,742 (GRCm39) probably null Het
Ccdc90b A G 7: 92,216,943 (GRCm39) T72A probably benign Het
Chrd A G 16: 20,554,497 (GRCm39) E352G possibly damaging Het
Csmd2 A G 4: 128,277,743 (GRCm39) E953G probably benign Het
Dchs2 T A 3: 83,035,841 (GRCm39) M196K probably benign Het
Ddx10 G A 9: 53,159,207 (GRCm39) Q33* probably null Het
Dennd4b T A 3: 90,176,086 (GRCm39) V201E probably damaging Het
Fbn2 T A 18: 58,246,420 (GRCm39) H494L probably benign Het
Fbxw13 G A 9: 109,023,795 (GRCm39) A83V probably null Het
Fxr1 A G 3: 34,108,452 (GRCm39) D321G possibly damaging Het
Galm A G 17: 80,489,053 (GRCm39) H233R probably benign Het
Gm7298 A G 6: 121,752,768 (GRCm39) T837A probably benign Het
Hk1 T G 10: 62,116,910 (GRCm39) E645A probably damaging Het
Igkv1-132 A G 6: 67,737,324 (GRCm39) T97A probably damaging Het
Kcnc1 T C 7: 46,084,716 (GRCm39) F547L probably damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lingo2 T A 4: 35,709,566 (GRCm39) E138V probably damaging Het
Myb T C 10: 21,020,865 (GRCm39) probably null Het
Mybl1 A G 1: 9,753,353 (GRCm39) V243A probably benign Het
Mylk4 C T 13: 32,912,393 (GRCm39) S189N probably benign Het
Or13c7 T A 4: 43,855,206 (GRCm39) L299* probably null Het
Or2y16 A G 11: 49,335,169 (GRCm39) M164V probably benign Het
Or4k77 A T 2: 111,199,394 (GRCm39) Q139L probably benign Het
Or4x12-ps1 A T 2: 89,915,953 (GRCm39) I284N probably damaging Het
Or5w1b A G 2: 87,475,667 (GRCm39) Y267H probably benign Het
Or8g19 A T 9: 39,055,506 (GRCm39) I37F probably benign Het
Oxld1 A T 11: 120,347,650 (GRCm39) D182E probably damaging Het
Phf13 A T 4: 152,076,017 (GRCm39) L295Q probably damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Prss33 A G 17: 24,053,813 (GRCm39) L88P possibly damaging Het
Ralgds A G 2: 28,438,448 (GRCm39) Y596C probably damaging Het
Rftn2 A G 1: 55,233,418 (GRCm39) I379T possibly damaging Het
Rnf214 C T 9: 45,807,403 (GRCm39) E267K probably damaging Het
Rpp14 T C 14: 8,083,717 (GRCm38) probably benign Het
Rpusd2 A G 2: 118,865,876 (GRCm39) Y191C probably damaging Het
Serpinb9c T A 13: 33,341,807 (GRCm39) M1L probably benign Het
Shroom3 A G 5: 93,088,795 (GRCm39) D434G probably damaging Het
Smc5 G A 19: 23,192,010 (GRCm39) S888L probably benign Het
Suv39h2 C T 2: 3,465,458 (GRCm39) R299K probably benign Het
Trappc4 A T 9: 44,315,685 (GRCm39) I176N probably damaging Het
Trim12c A T 7: 103,997,337 (GRCm39) V73E probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Other mutations in Gmppa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01871:Gmppa APN 1 75,413,661 (GRCm39) missense probably damaging 0.98
IGL02418:Gmppa APN 1 75,415,664 (GRCm39) missense probably damaging 1.00
IGL02899:Gmppa APN 1 75,418,474 (GRCm39) splice site probably null
IGL03009:Gmppa APN 1 75,416,014 (GRCm39) missense probably damaging 1.00
PIT4151001:Gmppa UTSW 1 75,418,468 (GRCm39) nonsense probably null
R0708:Gmppa UTSW 1 75,419,218 (GRCm39) missense probably damaging 1.00
R1352:Gmppa UTSW 1 75,417,178 (GRCm39) missense probably benign 0.00
R1886:Gmppa UTSW 1 75,419,152 (GRCm39) missense probably damaging 1.00
R2000:Gmppa UTSW 1 75,418,172 (GRCm39) missense probably damaging 1.00
R3053:Gmppa UTSW 1 75,418,400 (GRCm39) missense probably benign 0.04
R4301:Gmppa UTSW 1 75,419,140 (GRCm39) missense possibly damaging 0.77
R5054:Gmppa UTSW 1 75,416,015 (GRCm39) nonsense probably null
R5791:Gmppa UTSW 1 75,418,899 (GRCm39) missense possibly damaging 0.58
R7806:Gmppa UTSW 1 75,415,581 (GRCm39) missense probably damaging 1.00
R8105:Gmppa UTSW 1 75,413,641 (GRCm39) missense possibly damaging 0.82
R8747:Gmppa UTSW 1 75,416,025 (GRCm39) missense probably damaging 0.97
R8878:Gmppa UTSW 1 75,414,932 (GRCm39) missense probably damaging 1.00
R9491:Gmppa UTSW 1 75,415,602 (GRCm39) missense probably damaging 0.98
R9541:Gmppa UTSW 1 75,417,094 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCACCTCACCGATGGTATC -3'
(R):5'- GCGGTTGGATGGATGTAAAC -3'

Sequencing Primer
(F):5'- ACCTCACCGATGGTATCTGGAG -3'
(R):5'- CGGTTGGATGGATGTAAACATTTCC -3'
Posted On 2018-09-12