Incidental Mutation 'R5296:Pygm'
| ID |
405445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pygm
|
| Ensembl Gene |
ENSMUSG00000032648 |
| Gene Name |
muscle glycogen phosphorylase |
| Synonyms |
PG |
| MMRRC Submission |
042879-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5296 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6434438-6448494 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6434609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 34
(R34H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035269]
[ENSMUST00000113483]
|
| AlphaFold |
Q9WUB3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035269
AA Change: R34H
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000047564
Gene: ENSMUSG00000032648
AA Change: R34H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosphorylase
|
113 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113483
AA Change: R34H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109111
Gene: ENSMUSG00000032648
AA Change: R34H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosphorylase
|
62 |
742 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.6%
|
| Validation Efficiency |
100% (65/65) |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apobr |
A |
C |
7: 126,187,196 (GRCm39) |
D89A |
probably damaging |
Het |
| Bhlhe41 |
C |
T |
6: 145,808,694 (GRCm39) |
|
probably benign |
Het |
| Cacna1s |
G |
A |
1: 136,023,523 (GRCm39) |
V674M |
probably benign |
Het |
| Cavin2 |
T |
C |
1: 51,329,029 (GRCm39) |
|
probably null |
Het |
| Cd300lb |
T |
C |
11: 114,815,763 (GRCm39) |
S106G |
possibly damaging |
Het |
| Ceacam15 |
A |
G |
7: 16,407,121 (GRCm39) |
V132A |
probably benign |
Het |
| Ddi2 |
G |
T |
4: 141,412,076 (GRCm39) |
Q279K |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,847,151 (GRCm39) |
V4304A |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Epsti1 |
T |
A |
14: 78,142,090 (GRCm39) |
H55Q |
probably benign |
Het |
| Flad1 |
T |
C |
3: 89,318,503 (GRCm39) |
T17A |
probably damaging |
Het |
| Fzd2 |
C |
T |
11: 102,496,981 (GRCm39) |
T475M |
probably damaging |
Het |
| Gemin5 |
C |
A |
11: 58,020,887 (GRCm39) |
W1099L |
probably damaging |
Het |
| Gm9892 |
T |
C |
8: 52,649,964 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb2 |
A |
G |
2: 180,897,779 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,765,833 (GRCm39) |
E55G |
probably damaging |
Het |
| Gvin-ps3 |
A |
T |
7: 105,681,055 (GRCm39) |
|
noncoding transcript |
Het |
| Hltf |
T |
C |
3: 20,162,276 (GRCm39) |
S825P |
probably damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,139,820 (GRCm39) |
Q902L |
probably null |
Het |
| Kcnt2 |
C |
T |
1: 140,537,353 (GRCm39) |
P1037L |
probably damaging |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Lama5 |
A |
C |
2: 179,835,594 (GRCm39) |
L1253R |
probably damaging |
Het |
| Lancl2 |
T |
G |
6: 57,701,567 (GRCm39) |
S230A |
probably benign |
Het |
| Lmcd1 |
A |
G |
6: 112,292,549 (GRCm39) |
M134V |
probably damaging |
Het |
| Lrrc23 |
C |
A |
6: 124,751,445 (GRCm39) |
A205S |
probably damaging |
Het |
| Mfsd13b |
T |
A |
7: 120,590,961 (GRCm39) |
I234N |
probably damaging |
Het |
| Mroh3 |
A |
G |
1: 136,124,061 (GRCm39) |
S386P |
probably damaging |
Het |
| Mylk3 |
A |
C |
8: 86,082,060 (GRCm39) |
F313V |
possibly damaging |
Het |
| Myo9b |
A |
T |
8: 71,786,032 (GRCm39) |
Q643L |
possibly damaging |
Het |
| Nacad |
T |
C |
11: 6,555,745 (GRCm39) |
S2G |
unknown |
Het |
| Olfr908 |
T |
C |
9: 38,427,412 (GRCm39) |
F28S |
probably damaging |
Het |
| Or10z1 |
G |
T |
1: 174,078,322 (GRCm39) |
T57K |
possibly damaging |
Het |
| Or2n1d |
C |
T |
17: 38,646,347 (GRCm39) |
Q100* |
probably null |
Het |
| Or4x6 |
A |
T |
2: 89,949,043 (GRCm39) |
W300R |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,795,048 (GRCm39) |
V2245A |
probably damaging |
Het |
| Pkdrej |
G |
A |
15: 85,701,319 (GRCm39) |
T1539I |
possibly damaging |
Het |
| Plch2 |
G |
T |
4: 155,074,456 (GRCm39) |
|
probably null |
Het |
| Rgs12 |
T |
C |
5: 35,178,448 (GRCm39) |
|
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,462,890 (GRCm39) |
I338T |
probably damaging |
Het |
| Sapcd1 |
T |
A |
17: 35,245,707 (GRCm39) |
Q104L |
probably damaging |
Het |
| Satb2 |
T |
C |
1: 56,836,066 (GRCm39) |
E575G |
probably damaging |
Het |
| Sema6b |
T |
A |
17: 56,434,091 (GRCm39) |
|
probably null |
Het |
| Slc25a11 |
T |
C |
11: 70,537,011 (GRCm39) |
N15D |
probably damaging |
Het |
| Slc26a6 |
C |
T |
9: 108,737,845 (GRCm39) |
T526M |
probably damaging |
Het |
| Tcaf3 |
G |
T |
6: 42,564,444 (GRCm39) |
T906K |
possibly damaging |
Het |
| Thbd |
A |
T |
2: 148,248,903 (GRCm39) |
C322S |
probably damaging |
Het |
| Traf2 |
A |
G |
2: 25,410,452 (GRCm39) |
L399P |
probably damaging |
Het |
| Troap |
T |
A |
15: 98,976,698 (GRCm39) |
V274D |
probably damaging |
Het |
| Utrn |
G |
A |
10: 12,277,099 (GRCm39) |
T3406M |
probably damaging |
Het |
| Uts2 |
G |
T |
4: 151,083,508 (GRCm39) |
A40S |
possibly damaging |
Het |
| Vmn2r109 |
T |
A |
17: 20,774,603 (GRCm39) |
I251F |
possibly damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,786,230 (GRCm39) |
S592P |
probably damaging |
Het |
| Vps13b |
T |
G |
15: 35,876,559 (GRCm39) |
W2797G |
probably damaging |
Het |
| Ythdf1 |
A |
T |
2: 180,553,981 (GRCm39) |
M51K |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,437,955 (GRCm39) |
|
probably benign |
Het |
| Zfp882 |
T |
A |
8: 72,668,204 (GRCm39) |
F344I |
probably damaging |
Het |
|
| Other mutations in Pygm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
R6266:Pygm
|
UTSW |
19 |
6,448,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TAAATCCCCTCACAGCTGGG -3'
(R):5'- ATGTCTCAACTCTCTGCCAGG -3'
Sequencing Primer
(F):5'- GCAGCTCCACTCCCTGG -3'
(R):5'- AGGCCCAACTCCCTGCTAATTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation