Incidental Mutation 'R5181:Pgm2l1'
ID397549
Institutional Source Beutler Lab
Gene Symbol Pgm2l1
Ensembl Gene ENSMUSG00000030729
Gene Namephosphoglucomutase 2-like 1
Synonyms4931406N15Rik, BM32A
MMRRC Submission 042761-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.261) question?
Stock #R5181 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location100227394-100278868 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 100261758 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 303 (C303Y)
Ref Sequence ENSEMBL: ENSMUSP00000081998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054436] [ENSMUST00000084935] [ENSMUST00000162108]
Predicted Effect probably benign
Transcript: ENSMUST00000054436
AA Change: C303Y

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000054782
Gene: ENSMUSG00000030729
AA Change: C303Y

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: C303Y

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000081998
Gene: ENSMUSG00000030729
AA Change: C303Y

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 noncoding transcript
Transcript: ENSMUST00000160622
Predicted Effect probably benign
Transcript: ENSMUST00000162108
SMART Domains Protein: ENSMUSP00000124851
Gene: ENSMUSG00000030729

DomainStartEndE-ValueType
Pfam:PGM_PMM_I 64 212 4e-37 PFAM
Meta Mutation Damage Score 0.0680 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,714,937 D642E probably benign Het
Anxa2 T C 9: 69,476,065 V54A probably benign Het
Ccnb1 C G 13: 100,781,775 Q121H possibly damaging Het
Cdca2 A G 14: 67,680,165 S595P probably damaging Het
Cenpe G A 3: 135,242,303 E1208K probably damaging Het
Cfh T C 1: 140,147,646 probably benign Het
Colq T A 14: 31,557,842 H9L probably benign Het
Coq8b T C 7: 27,252,322 I403T possibly damaging Het
Dcdc2a C A 13: 25,202,364 T407K possibly damaging Het
Fam198b A T 3: 79,886,311 S29C probably benign Het
Fam49b T A 15: 63,938,677 M234L probably damaging Het
Grhl3 T A 4: 135,559,104 K89* probably null Het
Inpp5f A G 7: 128,679,831 T519A probably damaging Het
Isl2 G T 9: 55,542,277 R79L probably benign Het
Kif9 T A 9: 110,521,268 D742E probably damaging Het
Lgi2 T A 5: 52,554,450 K176M probably damaging Het
Lin9 T A 1: 180,669,198 L351I probably benign Het
Lrch4 A G 5: 137,629,403 D66G probably damaging Het
Milr1 G A 11: 106,754,980 G116D probably damaging Het
Myof T C 19: 37,932,623 D1397G possibly damaging Het
Neurod2 T C 11: 98,327,378 H320R probably benign Het
Nox3 A T 17: 3,635,286 Y562* probably null Het
Nrap G A 19: 56,345,528 H884Y possibly damaging Het
Pde3a T C 6: 141,481,255 probably null Het
Phip A G 9: 82,871,190 probably benign Het
Plxna4 A G 6: 32,516,997 I228T probably damaging Het
Prdm2 A G 4: 143,134,966 S585P probably benign Het
Prpf6 T C 2: 181,649,546 I718T probably damaging Het
Rpp40 T C 13: 35,896,712 probably null Het
Skiv2l T C 17: 34,844,826 D547G probably benign Het
Slc22a22 T A 15: 57,255,123 Y264F probably benign Het
Slc5a4b A T 10: 76,060,387 L578* probably null Het
Sptan1 A T 2: 29,993,724 probably benign Het
St5 T C 7: 109,556,790 Y251C probably benign Het
Sult2a4 T G 7: 13,988,391 I50L probably benign Het
Taar6 T C 10: 23,984,785 T288A possibly damaging Het
Tmem71 C T 15: 66,555,214 S44N probably benign Het
Tmem98 T C 11: 80,819,932 V139A probably damaging Het
Triobp T C 15: 78,967,754 Y703H probably benign Het
Ttc25 G A 11: 100,549,893 D67N probably damaging Het
Ttc34 A G 4: 154,862,246 T868A probably benign Het
Ttn C T 2: 76,834,881 probably benign Het
Vipas39 A T 12: 87,239,827 W470R probably damaging Het
Vmn2r102 T C 17: 19,676,741 Y117H probably benign Het
Vmn2r111 T C 17: 22,571,020 N335S possibly damaging Het
Vmn2r70 A G 7: 85,559,179 Y697H probably damaging Het
Wnk4 C A 11: 101,265,377 R461S probably damaging Het
Xylb T A 9: 119,364,501 L87Q probably damaging Het
Zcchc9 T A 13: 91,797,162 K101* probably null Het
Zfp503 C A 14: 21,985,637 A404S probably benign Het
Zhx1 C G 15: 58,054,074 G259R probably damaging 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
R3804:Pgm2l1 UTSW 7 100252267 missense probably benign 0.00
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
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
R8031:Pgm2l1 UTSW 7 100272418 missense probably damaging 1.00
Z1176:Pgm2l1 UTSW 7 100270455 missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- TGTCTGATTTTCCTTTACAGGGAC -3'
(R):5'- CAGTGACCCCAAAAGGCTAG -3'

Sequencing Primer
(F):5'- GGGACTTAAATTCAAAGACCACCTTG -3'
(R):5'- CATGCGGTCTAGAGAGTTTGAAC -3'
Posted On2016-07-06