Incidental Mutation 'R3804:Pgm2l1'
ID274495
Institutional Source Beutler Lab
Gene Symbol Pgm2l1
Ensembl Gene ENSMUSG00000030729
Gene Namephosphoglucomutase 2-like 1
Synonyms4931406N15Rik, BM32A
MMRRC Submission 040879-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.217) question?
Stock #R3804 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location100227394-100278868 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 100252267 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 121 (V121A)
Ref Sequence ENSEMBL: ENSMUSP00000081998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054436] [ENSMUST00000084935] [ENSMUST00000162108]
Predicted Effect probably benign
Transcript: ENSMUST00000054436
AA Change: V121A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000054782
Gene: ENSMUSG00000030729
AA Change: V121A

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 benign
Transcript: ENSMUST00000084935
AA Change: V121A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000081998
Gene: ENSMUSG00000030729
AA Change: V121A

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 probably benign
Transcript: ENSMUST00000162108
AA Change: V121A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124851
Gene: ENSMUSG00000030729
AA Change: V121A

DomainStartEndE-ValueType
Pfam:PGM_PMM_I 64 212 4e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208158
Meta Mutation Damage Score 0.0598 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik C T 8: 79,248,293 E54K probably benign Het
2610301B20Rik A G 4: 10,898,014 T199A probably benign Het
Adgra1 A G 7: 139,845,594 T8A probably benign Het
Alms1 A G 6: 85,619,647 Y954C probably damaging Het
AU021092 A C 16: 5,216,762 F199V possibly damaging Het
Bahcc1 C T 11: 120,283,358 P1648L probably benign Het
Cacna1s T A 1: 136,107,018 C1319S possibly damaging Het
Capn13 G A 17: 73,339,401 P339L probably benign Het
Ccdc39 A T 3: 33,819,895 M596K probably damaging Het
Cntn5 A G 9: 9,781,663 probably benign Het
Cyth4 A G 15: 78,609,802 K159E probably damaging Het
Dgkz C A 2: 91,939,630 R563L probably benign Het
Dnah8 A G 17: 30,670,647 E718G probably benign Het
Dopey1 T C 9: 86,520,995 L1416P probably damaging Het
Dstyk G A 1: 132,449,726 A110T probably damaging Het
Eif1 A G 11: 100,320,824 K95E probably damaging Het
Espnl A G 1: 91,322,221 D30G probably benign Het
Gast T C 11: 100,336,810 S73P probably damaging Het
Gmppb T C 9: 108,050,574 Y176H probably damaging Het
Grap2 A G 15: 80,623,746 T4A possibly damaging Het
Grm8 T G 6: 28,125,636 N164H possibly damaging Het
Gstm3 G A 3: 107,964,235 T210I probably benign Het
Gtf3c3 A G 1: 54,424,007 probably null Het
Hmcn2 A G 2: 31,352,885 probably null Het
Icam2 A G 11: 106,380,822 L94P probably damaging Het
Iqcm C A 8: 75,669,393 T188K possibly damaging Het
Jarid2 T A 13: 44,902,831 N365K probably benign Het
Kank4 A G 4: 98,780,133 S26P probably damaging Het
Lgr4 A G 2: 110,008,197 K498E probably benign Het
Meltf A G 16: 31,884,998 H181R probably benign Het
Mslnl G A 17: 25,742,934 V128M probably damaging Het
Nf1 A G 11: 79,559,521 D511G probably null Het
Nhlrc3 A G 3: 53,458,631 V147A possibly damaging Het
Nrap C T 19: 56,321,779 D1595N probably damaging Het
Olfr1 T C 11: 73,395,950 Q24R probably benign Het
Olfr430 T A 1: 174,069,908 N203K probably damaging Het
Olfr481 A T 7: 108,081,171 I126F probably damaging Het
Olfr805 T A 10: 129,723,049 D165V possibly damaging Het
Pak3 G A X: 143,709,731 V87I probably damaging Het
Phf19 A G 2: 34,899,658 L350P probably damaging Het
Phf8 T C X: 151,572,576 S512P possibly damaging Het
Phkb G T 8: 85,922,229 E225* probably null Het
Pif1 T A 9: 65,588,306 V166E probably damaging Het
Plaa T C 4: 94,569,888 D615G probably damaging Het
Prpf4b T C 13: 34,883,682 probably benign Het
Rxra T C 2: 27,756,260 C374R probably damaging Het
Sept3 T C 15: 82,286,429 probably benign Het
Skint4 G T 4: 112,118,181 V113L probably damaging Het
Slc16a10 G C 10: 40,056,624 H314D possibly damaging Het
Slc22a15 C T 3: 101,897,274 G145D probably damaging Het
Slc28a1 A T 7: 81,126,221 I222F probably damaging Het
Slc43a2 T C 11: 75,563,598 L323P probably benign Het
Sorbs3 A G 14: 70,199,351 probably benign Het
Spink10 C T 18: 62,653,414 probably benign Het
Suclg2 A T 6: 95,497,668 I372N probably damaging Het
Sun1 C A 5: 139,225,362 C164* probably null Het
Tax1bp1 T C 6: 52,742,785 F453L probably benign Het
Tmem54 A G 4: 129,108,220 N9S probably benign Het
Tmx4 A G 2: 134,620,577 W145R probably damaging Het
Top1 A G 2: 160,702,768 H268R probably damaging Het
Ttn A G 2: 76,810,731 L13598P probably damaging Het
Vmn1r40 A G 6: 89,715,009 I269M probably benign Het
Wdr7 G T 18: 63,720,836 R80L probably benign Het
Zap70 A T 1: 36,771,142 Q111L possibly damaging Het
Zfp808 T A 13: 62,172,083 H375Q probably damaging Het
Zkscan2 A T 7: 123,495,142 probably benign Het
Other mutations in Pgm2l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Pgm2l1 APN 7 100255619 critical splice donor site probably null
R0044:Pgm2l1 UTSW 7 100250332 missense probably benign 0.01
R0044:Pgm2l1 UTSW 7 100250332 missense probably benign 0.01
R0106:Pgm2l1 UTSW 7 100250373 missense probably benign 0.07
R0106:Pgm2l1 UTSW 7 100250373 missense probably benign 0.07
R0394:Pgm2l1 UTSW 7 100252198 missense probably damaging 1.00
R1518:Pgm2l1 UTSW 7 100261725 missense probably benign 0.00
R2184:Pgm2l1 UTSW 7 100268155 missense possibly damaging 0.82
R2207:Pgm2l1 UTSW 7 100268112 splice site probably null
R2344:Pgm2l1 UTSW 7 100259908 missense probably damaging 0.99
R4292:Pgm2l1 UTSW 7 100250301 missense probably damaging 1.00
R4789:Pgm2l1 UTSW 7 100267587 missense probably benign
R4872:Pgm2l1 UTSW 7 100227997 missense probably damaging 1.00
R5001:Pgm2l1 UTSW 7 100272376 missense probably benign 0.00
R5081:Pgm2l1 UTSW 7 100268265 missense probably benign
R5181:Pgm2l1 UTSW 7 100261758 missense probably benign 0.01
R5417:Pgm2l1 UTSW 7 100272376 missense probably benign 0.00
R5500:Pgm2l1 UTSW 7 100268133 missense probably benign 0.00
R6057:Pgm2l1 UTSW 7 100266674 missense probably benign 0.33
R6414:Pgm2l1 UTSW 7 100255540 missense possibly damaging 0.88
R7356:Pgm2l1 UTSW 7 100268119 missense possibly damaging 0.94
R7658:Pgm2l1 UTSW 7 100250328 missense probably damaging 0.98
R7967:Pgm2l1 UTSW 7 100261647 missense probably damaging 1.00
R8031:Pgm2l1 UTSW 7 100272418 missense probably damaging 1.00
R8283:Pgm2l1 UTSW 7 100253253 missense probably benign 0.26
Z1176:Pgm2l1 UTSW 7 100270455 missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- CCAGTTCTGAGTCAATAAGCAGC -3'
(R):5'- AGCTTCGTAATTACTCCTACTCGG -3'

Sequencing Primer
(F):5'- ATGTAGCTCAGTGGCAATGC -3'
(R):5'- AATTACTCCTACTCGGTTCCTAGAC -3'
Posted On2015-04-02