Incidental Mutation 'R4292:Pgm2l1'
ID 323119
Institutional Source Beutler Lab
Gene Symbol Pgm2l1
Ensembl Gene ENSMUSG00000030729
Gene Name phosphoglucomutase 2-like 1
Synonyms 4931406N15Rik, BM32A
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # R4292 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 99876601-99928075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99899508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 41 (T41A)
Ref Sequence ENSEMBL: ENSMUSP00000081998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054436] [ENSMUST00000084935] [ENSMUST00000162108]
AlphaFold Q8CAA7
Predicted Effect probably damaging
Transcript: ENSMUST00000054436
AA Change: T41A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054782
Gene: ENSMUSG00000030729
AA Change: T41A

DomainStartEndE-ValueType
Pfam:PGM_PMM_I 64 212 2.5e-36 PFAM
Pfam:PGM_PMM_II 237 347 2e-25 PFAM
Pfam:PGM_PMM_III 353 481 5.4e-15 PFAM
Pfam:PGM_PMM_IV 524 604 5.9e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000084935
AA Change: T41A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081998
Gene: ENSMUSG00000030729
AA Change: T41A

DomainStartEndE-ValueType
Pfam:PGM_PMM_I 64 212 4e-36 PFAM
Pfam:PGM_PMM_II 237 347 2.4e-26 PFAM
Pfam:PGM_PMM_III 353 481 8e-16 PFAM
Pfam:PGM_PMM_IV 526 601 8.1e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000162108
AA Change: T41A

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124851
Gene: ENSMUSG00000030729
AA Change: T41A

DomainStartEndE-ValueType
Pfam:PGM_PMM_I 64 212 4e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208158
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,772,977 (GRCm39) K1232E possibly damaging Het
Angel1 A G 12: 86,767,057 (GRCm39) Y440H probably damaging Het
Bclaf1 A G 10: 20,199,524 (GRCm39) Q20R probably damaging Het
Bivm A T 1: 44,177,793 (GRCm39) R364S probably damaging Het
Brwd1 G A 16: 95,818,804 (GRCm39) P1343S probably damaging Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Cep68 A T 11: 20,190,079 (GRCm39) V311D probably damaging Het
Cip2a T A 16: 48,833,612 (GRCm39) F571Y probably benign Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gcn1 G A 5: 115,714,207 (GRCm39) A116T possibly damaging Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Hddc2 A T 10: 31,190,583 (GRCm39) M48L possibly damaging Het
Kif18a A T 2: 109,128,471 (GRCm39) I376L probably damaging Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Myh2 A G 11: 67,085,723 (GRCm39) K1855R possibly damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Or5b98 G A 19: 12,931,520 (GRCm39) C189Y possibly damaging Het
Or8d2b A G 9: 38,788,609 (GRCm39) I46V probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Pdss2 A G 10: 43,097,834 (GRCm39) Y26C probably benign Het
Prss58 T C 6: 40,874,244 (GRCm39) D144G probably damaging Het
Rrp12 T C 19: 41,861,344 (GRCm39) probably null Het
Sash1 A G 10: 8,606,006 (GRCm39) S795P possibly damaging Het
Sec16a A G 2: 26,312,167 (GRCm39) Y1998H probably benign Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Slco4c1 C G 1: 96,772,381 (GRCm39) probably null Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Tgfb2 T C 1: 186,364,735 (GRCm39) H253R probably damaging Het
Top3b A T 16: 16,701,383 (GRCm39) I232F probably damaging Het
Trim24 G A 6: 37,877,627 (GRCm39) R39H possibly damaging Het
Tsc22d1 T A 14: 76,656,320 (GRCm39) M851K probably benign Het
Ttn A G 2: 76,762,855 (GRCm39) V3268A possibly damaging Het
Unc79 A T 12: 103,149,703 (GRCm39) Q2599L probably damaging Het
Vmn1r192 T A 13: 22,371,465 (GRCm39) I252F probably damaging Het
Vwce A G 19: 10,636,996 (GRCm39) T693A probably benign Het
Other mutations in Pgm2l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Pgm2l1 APN 7 99,904,826 (GRCm39) critical splice donor site probably null
R0044:Pgm2l1 UTSW 7 99,899,539 (GRCm39) missense probably benign 0.01
R0044:Pgm2l1 UTSW 7 99,899,539 (GRCm39) missense probably benign 0.01
R0106:Pgm2l1 UTSW 7 99,899,580 (GRCm39) missense probably benign 0.07
R0106:Pgm2l1 UTSW 7 99,899,580 (GRCm39) missense probably benign 0.07
R0394:Pgm2l1 UTSW 7 99,901,405 (GRCm39) missense probably damaging 1.00
R1518:Pgm2l1 UTSW 7 99,910,932 (GRCm39) missense probably benign 0.00
R2184:Pgm2l1 UTSW 7 99,917,362 (GRCm39) missense possibly damaging 0.82
R2207:Pgm2l1 UTSW 7 99,917,319 (GRCm39) splice site probably null
R2344:Pgm2l1 UTSW 7 99,909,115 (GRCm39) missense probably damaging 0.99
R3804:Pgm2l1 UTSW 7 99,901,474 (GRCm39) missense probably benign 0.00
R4789:Pgm2l1 UTSW 7 99,916,794 (GRCm39) missense probably benign
R4872:Pgm2l1 UTSW 7 99,877,204 (GRCm39) missense probably damaging 1.00
R5001:Pgm2l1 UTSW 7 99,921,583 (GRCm39) missense probably benign 0.00
R5081:Pgm2l1 UTSW 7 99,917,472 (GRCm39) missense probably benign
R5181:Pgm2l1 UTSW 7 99,910,965 (GRCm39) missense probably benign 0.01
R5417:Pgm2l1 UTSW 7 99,921,583 (GRCm39) missense probably benign 0.00
R5500:Pgm2l1 UTSW 7 99,917,340 (GRCm39) missense probably benign 0.00
R6057:Pgm2l1 UTSW 7 99,915,881 (GRCm39) missense probably benign 0.33
R6414:Pgm2l1 UTSW 7 99,904,747 (GRCm39) missense possibly damaging 0.88
R7356:Pgm2l1 UTSW 7 99,917,326 (GRCm39) missense possibly damaging 0.94
R7658:Pgm2l1 UTSW 7 99,899,535 (GRCm39) missense probably damaging 0.98
R7967:Pgm2l1 UTSW 7 99,910,854 (GRCm39) missense probably damaging 1.00
R8031:Pgm2l1 UTSW 7 99,921,625 (GRCm39) missense probably damaging 1.00
R8283:Pgm2l1 UTSW 7 99,902,460 (GRCm39) missense probably benign 0.26
R8432:Pgm2l1 UTSW 7 99,909,260 (GRCm39) missense possibly damaging 0.48
R9289:Pgm2l1 UTSW 7 99,919,629 (GRCm39) missense probably damaging 1.00
Z1176:Pgm2l1 UTSW 7 99,919,662 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- TCTTGAGGACTCAGTAAGTGGAAGG -3'
(R):5'- ATGTAATACTTGCCTGTGTTGACTG -3'

Sequencing Primer
(F):5'- CAGGCTGTGAGTCTACAT -3'
(R):5'- ATACTTGCCTGTGTTGACTGTATTAC -3'
Posted On 2015-06-20