Incidental Mutation 'R6266:Pygm'
ID 507040
Institutional Source Beutler Lab
Gene Symbol Pygm
Ensembl Gene ENSMUSG00000032648
Gene Name muscle glycogen phosphorylase
Synonyms PG
MMRRC Submission 044378-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6266 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 6434438-6448494 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6448169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 737 (I737T)
Ref Sequence ENSEMBL: ENSMUSP00000109111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035269] [ENSMUST00000035716] [ENSMUST00000113467] [ENSMUST00000113468] [ENSMUST00000113469] [ENSMUST00000113471] [ENSMUST00000113483] [ENSMUST00000113472] [ENSMUST00000113475] [ENSMUST00000139522] [ENSMUST00000127021] [ENSMUST00000113476] [ENSMUST00000138555] [ENSMUST00000146601] [ENSMUST00000146831] [ENSMUST00000150713] [ENSMUST00000167240]
AlphaFold Q9WUB3
Predicted Effect probably damaging
Transcript: ENSMUST00000035269
AA Change: I825T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047564
Gene: ENSMUSG00000032648
AA Change: I825T

DomainStartEndE-ValueType
Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000035716
SMART Domains Protein: ENSMUSP00000041135
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
RasGEF 150 388 1.08e-100 SMART
EFh 430 458 8.25e-3 SMART
EFh 459 487 1.42e1 SMART
C1 499 548 3.22e-14 SMART
low complexity region 575 595 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113467
SMART Domains Protein: ENSMUSP00000109095
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
Blast:RasGEFN 3 24 9e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000113468
SMART Domains Protein: ENSMUSP00000109096
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 97 1.93e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113469
SMART Domains Protein: ENSMUSP00000109097
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
Blast:RasGEFN 3 24 1e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000113471
SMART Domains Protein: ENSMUSP00000109099
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 126 7.2e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139775
Predicted Effect probably damaging
Transcript: ENSMUST00000113483
AA Change: I737T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109111
Gene: ENSMUSG00000032648
AA Change: I737T

DomainStartEndE-ValueType
Pfam:Phosphorylase 62 742 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133968
Predicted Effect probably benign
Transcript: ENSMUST00000113472
SMART Domains Protein: ENSMUSP00000109100
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 126 7.2e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113475
SMART Domains Protein: ENSMUSP00000109103
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 126 7.2e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139522
SMART Domains Protein: ENSMUSP00000123036
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 125 6.02e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127021
SMART Domains Protein: ENSMUSP00000119740
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
Blast:RasGEFN 3 24 1e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000113476
SMART Domains Protein: ENSMUSP00000109104
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
RasGEF 150 388 1.08e-100 SMART
EFh 430 458 8.25e-3 SMART
EFh 459 487 1.42e1 SMART
C1 499 548 3.22e-14 SMART
low complexity region 575 595 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138555
SMART Domains Protein: ENSMUSP00000121635
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
Pfam:RasGEF 151 231 1.6e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145611
Predicted Effect probably benign
Transcript: ENSMUST00000146601
SMART Domains Protein: ENSMUSP00000117681
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
Blast:RasGEFN 3 58 1e-35 BLAST
SCOP:d1bkds_ 9 58 1e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146831
SMART Domains Protein: ENSMUSP00000120630
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150713
SMART Domains Protein: ENSMUSP00000120949
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 95 6.73e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167240
SMART Domains Protein: ENSMUSP00000129873
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
RasGEF 150 388 1.08e-100 SMART
EFh 430 458 8.25e-3 SMART
EFh 459 487 1.42e1 SMART
C1 499 548 3.22e-14 SMART
low complexity region 575 595 N/A INTRINSIC
Meta Mutation Damage Score 0.9535 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a glycolysis enzyme found in muscle. Highly similar enzymes encoded by different genes are found in liver and brain. The encoded protein is involved in regulating the breakdown of glycogen to glucose-1-phosphate, which is necessary for ATP generation. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null mutation exhibit massive muscle glycogen accumulation, elevated creatine kinase levels in blood, and very poor exercise performance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T C 13: 4,320,206 (GRCm39) T295A probably benign Het
Aldh2 C A 5: 121,706,997 (GRCm39) V217L probably damaging Het
Arap3 G A 18: 38,123,844 (GRCm39) R392C probably damaging Het
Aurkaip1 T G 4: 155,916,977 (GRCm39) L75R probably damaging Het
Blm C A 7: 80,149,688 (GRCm39) K640N probably benign Het
Brap A T 5: 121,823,328 (GRCm39) T487S probably benign Het
Ccser2 G A 14: 36,601,632 (GRCm39) P276L probably damaging Het
Cdc42bpg A G 19: 6,361,503 (GRCm39) E343G probably damaging Het
Cecr2 A G 6: 120,738,647 (GRCm39) S1097G probably benign Het
D7Ertd443e A T 7: 133,951,514 (GRCm39) V53D probably damaging Het
Ddx3y G A Y: 1,266,635 (GRCm39) T274I probably damaging Homo
Dnah5 T A 15: 28,335,773 (GRCm39) F2246L possibly damaging Het
Dock3 T A 9: 106,841,952 (GRCm39) H959L probably damaging Het
Dpy19l1 A G 9: 24,350,442 (GRCm39) S406P probably damaging Het
Efcab8 T C 2: 153,625,688 (GRCm39) L116P probably damaging Het
Efnb2 T C 8: 8,710,524 (GRCm39) I31V probably benign Het
Fbxl12 A T 9: 20,549,911 (GRCm39) L271Q probably damaging Het
Fmn1 T A 2: 113,426,683 (GRCm39) N1133K probably damaging Het
Frmpd2 T C 14: 33,287,864 (GRCm39) S1219P probably benign Het
Gm7298 A T 6: 121,759,663 (GRCm39) R1187S probably damaging Het
H6pd T C 4: 150,080,414 (GRCm39) I136V probably benign Het
Hyal2 A G 9: 107,447,914 (GRCm39) N189S probably benign Het
Jmjd1c C T 10: 67,085,439 (GRCm39) P2410S probably damaging Het
Larp1 A G 11: 57,933,089 (GRCm39) D231G probably damaging Het
Lilra5 T A 7: 4,244,927 (GRCm39) S233T possibly damaging Het
Lrrc43 T C 5: 123,641,340 (GRCm39) F508S probably damaging Het
Marchf4 T C 1: 72,491,647 (GRCm39) Y208C probably damaging Het
Mtarc2 T C 1: 184,566,140 (GRCm39) R85G probably damaging Het
Nr1h2 A T 7: 44,201,476 (GRCm39) C45* probably null Het
Or10ag2 T A 2: 87,249,350 (GRCm39) S319R probably benign Het
Or2n1e A G 17: 38,586,039 (GRCm39) I126V probably benign Het
Ppp2r5d G T 17: 46,996,629 (GRCm39) probably null Het
Prpf40a A T 2: 53,046,639 (GRCm39) S324T probably benign Het
Psmb7 T C 2: 38,530,199 (GRCm39) D94G probably damaging Het
Psmd11 A G 11: 80,336,767 (GRCm39) T140A probably benign Het
Rbp3 G A 14: 33,676,418 (GRCm39) R122H probably benign Het
Relch T G 1: 105,659,007 (GRCm39) probably null Het
Rrp8 T C 7: 105,385,596 (GRCm39) E3G probably damaging Het
Sacm1l T C 9: 123,371,485 (GRCm39) S37P probably damaging Het
Slc12a3 A G 8: 95,085,099 (GRCm39) R939G possibly damaging Het
Slc20a1 T C 2: 129,051,814 (GRCm39) S608P possibly damaging Het
Sntg1 T C 1: 8,624,953 (GRCm39) Q281R possibly damaging Het
Spata31d1e C T 13: 59,890,126 (GRCm39) V147I probably benign Het
Tefm A G 11: 80,028,814 (GRCm39) L194P probably damaging Het
Terf2ip T A 8: 112,738,547 (GRCm39) V145E probably damaging Het
Tmem231 T A 8: 112,641,897 (GRCm39) E219V probably null Het
Tmx3 T A 18: 90,555,334 (GRCm39) probably null Het
Tns3 G A 11: 8,442,987 (GRCm39) P459S probably damaging Het
Trav13d-1 T A 14: 53,089,220 (GRCm39) S76R probably benign Het
Trp63 A G 16: 25,681,210 (GRCm39) N254S probably damaging Het
Tsen34 A G 7: 3,696,984 (GRCm39) probably benign Het
Unc13d A G 11: 115,959,064 (GRCm39) V701A probably damaging Het
Usp36 A G 11: 118,159,411 (GRCm39) S513P probably damaging Het
Uspl1 T A 5: 149,141,176 (GRCm39) S392T probably damaging Het
Vmn2r102 T A 17: 19,899,007 (GRCm39) C450S probably benign Het
Zfp128 T C 7: 12,624,897 (GRCm39) Y422H possibly damaging Het
Zkscan7 C T 9: 122,724,299 (GRCm39) Q423* probably null Het
Other mutations in Pygm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Pygm APN 19 6,441,424 (GRCm39) missense probably benign
IGL01743:Pygm APN 19 6,443,024 (GRCm39) splice site probably null
IGL01827:Pygm APN 19 6,440,407 (GRCm39) missense probably damaging 1.00
IGL02032:Pygm APN 19 6,438,117 (GRCm39) missense probably benign 0.23
IGL02261:Pygm APN 19 6,438,301 (GRCm39) missense probably damaging 1.00
IGL02431:Pygm APN 19 6,438,148 (GRCm39) missense probably damaging 1.00
IGL02511:Pygm APN 19 6,435,718 (GRCm39) missense probably benign 0.22
IGL02967:Pygm APN 19 6,443,868 (GRCm39) missense probably damaging 1.00
IGL03081:Pygm APN 19 6,438,851 (GRCm39) missense possibly damaging 0.53
R0336:Pygm UTSW 19 6,438,788 (GRCm39) missense probably damaging 1.00
R0415:Pygm UTSW 19 6,441,396 (GRCm39) missense probably benign 0.06
R0799:Pygm UTSW 19 6,436,048 (GRCm39) intron probably benign
R1445:Pygm UTSW 19 6,439,917 (GRCm39) missense probably benign 0.20
R1752:Pygm UTSW 19 6,441,064 (GRCm39) missense probably damaging 0.99
R1828:Pygm UTSW 19 6,447,637 (GRCm39) missense possibly damaging 0.72
R2054:Pygm UTSW 19 6,438,185 (GRCm39) missense probably benign 0.02
R2086:Pygm UTSW 19 6,441,511 (GRCm39) critical splice donor site probably null
R2116:Pygm UTSW 19 6,436,438 (GRCm39) missense probably damaging 0.98
R2431:Pygm UTSW 19 6,443,815 (GRCm39) missense probably damaging 1.00
R2516:Pygm UTSW 19 6,447,631 (GRCm39) missense probably benign 0.20
R3938:Pygm UTSW 19 6,442,980 (GRCm39) missense probably benign 0.42
R4609:Pygm UTSW 19 6,441,439 (GRCm39) missense possibly damaging 0.92
R4924:Pygm UTSW 19 6,443,754 (GRCm39) missense probably damaging 1.00
R4995:Pygm UTSW 19 6,448,169 (GRCm39) missense probably damaging 1.00
R5225:Pygm UTSW 19 6,439,494 (GRCm39) missense probably benign 0.01
R5296:Pygm UTSW 19 6,434,609 (GRCm39) missense probably damaging 1.00
R5437:Pygm UTSW 19 6,440,412 (GRCm39) missense probably damaging 1.00
R5994:Pygm UTSW 19 6,448,073 (GRCm39) critical splice acceptor site probably null
R6030:Pygm UTSW 19 6,438,842 (GRCm39) missense possibly damaging 0.78
R6030:Pygm UTSW 19 6,438,842 (GRCm39) missense possibly damaging 0.78
R6188:Pygm UTSW 19 6,447,967 (GRCm39) splice site probably null
R6799:Pygm UTSW 19 6,448,157 (GRCm39) missense probably damaging 1.00
R6855:Pygm UTSW 19 6,443,787 (GRCm39) missense probably damaging 1.00
R6856:Pygm UTSW 19 6,443,787 (GRCm39) missense probably damaging 1.00
R6857:Pygm UTSW 19 6,443,787 (GRCm39) missense probably damaging 1.00
R7223:Pygm UTSW 19 6,438,893 (GRCm39) missense probably benign
R7256:Pygm UTSW 19 6,435,926 (GRCm39) missense probably benign 0.01
R7263:Pygm UTSW 19 6,438,357 (GRCm39) missense probably damaging 1.00
R7398:Pygm UTSW 19 6,435,966 (GRCm39) missense probably damaging 1.00
R8093:Pygm UTSW 19 6,436,072 (GRCm39) missense probably damaging 1.00
R8351:Pygm UTSW 19 6,438,117 (GRCm39) missense possibly damaging 0.83
R8499:Pygm UTSW 19 6,440,392 (GRCm39) missense probably damaging 0.99
R8967:Pygm UTSW 19 6,434,744 (GRCm39) missense probably damaging 1.00
R9331:Pygm UTSW 19 6,448,129 (GRCm39) missense probably damaging 1.00
R9656:Pygm UTSW 19 6,438,187 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTGTACAAGGTGAGGGGTCC -3'
(R):5'- ACACTAGGCATCAGGACCTAG -3'

Sequencing Primer
(F):5'- CTGGCAGGGCTTTGACTC -3'
(R):5'- CTAGGCATCAGGACCTAGAGACTG -3'
Posted On 2018-03-15