Incidental Mutation 'R1494:Pygl'
| ID |
163831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pygl
|
| Ensembl Gene |
ENSMUSG00000021069 |
| Gene Name |
liver glycogen phosphorylase |
| Synonyms |
|
| MMRRC Submission |
039545-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.562)
|
| Stock # |
R1494 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
70237589-70274457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70246504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 348
(R348W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071250]
[ENSMUST00000161083]
|
| AlphaFold |
Q9ET01 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071250
AA Change: R439W
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000071231
Gene: ENSMUSG00000021069
AA Change: R439W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosphorylase
|
113 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161083
AA Change: R348W
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125585
Gene: ENSMUSG00000021069
AA Change: R348W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosphorylase
|
21 |
739 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162613
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222093
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.3%
|
| Validation Efficiency |
97% (57/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
A |
G |
17: 48,400,991 (GRCm39) |
E92G |
probably benign |
Het |
| Abca13 |
C |
T |
11: 9,416,429 (GRCm39) |
Q4064* |
probably null |
Het |
| Abca14 |
G |
A |
7: 119,815,524 (GRCm39) |
M257I |
probably benign |
Het |
| Acsm2 |
T |
A |
7: 119,174,855 (GRCm39) |
C207S |
probably damaging |
Het |
| Actr3 |
A |
G |
1: 125,344,018 (GRCm39) |
I67T |
probably benign |
Het |
| Adcy7 |
T |
C |
8: 89,046,835 (GRCm39) |
V606A |
probably benign |
Het |
| Ahnak2 |
G |
A |
12: 112,751,570 (GRCm39) |
S54F |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,870,388 (GRCm39) |
S848P |
probably damaging |
Het |
| Atg3 |
C |
T |
16: 44,992,123 (GRCm39) |
|
probably benign |
Het |
| Atp8b1 |
T |
A |
18: 64,697,597 (GRCm39) |
S416C |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 142,987,072 (GRCm39) |
|
probably benign |
Het |
| Capn11 |
A |
T |
17: 45,954,735 (GRCm39) |
V134E |
probably damaging |
Het |
| Ccnd3 |
A |
G |
17: 47,909,033 (GRCm39) |
|
probably null |
Het |
| Chaf1b |
T |
A |
16: 93,684,998 (GRCm39) |
V149E |
probably damaging |
Het |
| Col5a2 |
T |
A |
1: 45,542,074 (GRCm39) |
M1L |
unknown |
Het |
| Copa |
T |
C |
1: 171,931,694 (GRCm39) |
I315T |
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,318,077 (GRCm39) |
M353V |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,160,942 (GRCm39) |
M828V |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,232,761 (GRCm39) |
K1080* |
probably null |
Het |
| Dock6 |
A |
G |
9: 21,726,038 (GRCm39) |
V1424A |
probably benign |
Het |
| Foxa1 |
T |
C |
12: 57,588,984 (GRCm39) |
D412G |
probably damaging |
Het |
| Foxp4 |
G |
C |
17: 48,191,278 (GRCm39) |
|
probably benign |
Het |
| Galnt9 |
T |
A |
5: 110,736,196 (GRCm39) |
S171T |
probably damaging |
Het |
| Glt6d1 |
A |
G |
2: 25,684,260 (GRCm39) |
Y249H |
probably damaging |
Het |
| Gm37240 |
A |
T |
3: 84,434,998 (GRCm39) |
Y104N |
probably damaging |
Het |
| Gpx8 |
C |
T |
13: 113,182,149 (GRCm39) |
E95K |
possibly damaging |
Het |
| Grm1 |
T |
C |
10: 10,565,450 (GRCm39) |
T953A |
probably benign |
Het |
| Helz |
T |
C |
11: 107,494,889 (GRCm39) |
|
probably benign |
Het |
| Hif3a |
T |
C |
7: 16,788,647 (GRCm39) |
Y108C |
probably damaging |
Het |
| Kcnj13 |
A |
T |
1: 87,316,939 (GRCm39) |
L58Q |
probably damaging |
Het |
| Mfsd14b |
A |
T |
13: 65,243,485 (GRCm39) |
V53D |
probably damaging |
Het |
| Mrps7 |
G |
C |
11: 115,494,952 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
G |
A |
6: 121,856,259 (GRCm39) |
G1013D |
probably damaging |
Het |
| Or52h7 |
T |
A |
7: 104,214,038 (GRCm39) |
Y203* |
probably null |
Het |
| Or6c8 |
A |
T |
10: 128,915,484 (GRCm39) |
M116K |
probably damaging |
Het |
| Pax6 |
T |
C |
2: 105,521,955 (GRCm39) |
I19T |
probably benign |
Het |
| Pde8b |
G |
A |
13: 95,184,304 (GRCm39) |
R416C |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,731,309 (GRCm39) |
D1874V |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sncaip |
T |
C |
18: 53,001,958 (GRCm39) |
S160P |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,133,719 (GRCm39) |
V79A |
probably damaging |
Het |
| Sptlc3 |
A |
T |
2: 139,431,480 (GRCm39) |
Y334F |
possibly damaging |
Het |
| Supt16 |
A |
G |
14: 52,409,916 (GRCm39) |
Y764H |
probably benign |
Het |
| Syne3 |
A |
T |
12: 104,921,841 (GRCm39) |
V438E |
possibly damaging |
Het |
| Tagap1 |
T |
C |
17: 7,224,210 (GRCm39) |
D162G |
probably damaging |
Het |
| Terb1 |
T |
C |
8: 105,225,122 (GRCm39) |
|
probably benign |
Het |
| Themis3 |
C |
A |
17: 66,866,949 (GRCm39) |
R97L |
probably benign |
Het |
| Tnk1 |
T |
A |
11: 69,747,372 (GRCm39) |
E86D |
possibly damaging |
Het |
| Tnpo3 |
A |
G |
6: 29,557,043 (GRCm39) |
L53P |
probably damaging |
Het |
| Trpc6 |
G |
A |
9: 8,658,305 (GRCm39) |
R725K |
probably benign |
Het |
| Ttll11 |
T |
G |
2: 35,685,391 (GRCm39) |
T566P |
probably damaging |
Het |
| Unc5c |
A |
T |
3: 141,533,310 (GRCm39) |
T779S |
possibly damaging |
Het |
| Zfp42 |
A |
G |
8: 43,748,638 (GRCm39) |
C288R |
possibly damaging |
Het |
| Zfp763 |
G |
A |
17: 33,240,477 (GRCm39) |
T52I |
probably damaging |
Het |
|
| Other mutations in Pygl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Pygl
|
APN |
12 |
70,237,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00903:Pygl
|
APN |
12 |
70,254,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01965:Pygl
|
APN |
12 |
70,237,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02347:Pygl
|
APN |
12 |
70,248,666 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02403:Pygl
|
APN |
12 |
70,241,032 (GRCm39) |
missense |
probably benign |
|
|
IGL02501:Pygl
|
APN |
12 |
70,237,908 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02727:Pygl
|
APN |
12 |
70,254,442 (GRCm39) |
splice site |
probably null |
|
|
IGL03125:Pygl
|
APN |
12 |
70,244,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03158:Pygl
|
APN |
12 |
70,242,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03202:Pygl
|
APN |
12 |
70,246,420 (GRCm39) |
missense |
probably benign |
|
|
IGL03368:Pygl
|
APN |
12 |
70,237,926 (GRCm39) |
missense |
probably benign |
|
|
R0096:Pygl
|
UTSW |
12 |
70,237,940 (GRCm39) |
splice site |
probably benign |
|
|
R0096:Pygl
|
UTSW |
12 |
70,237,940 (GRCm39) |
splice site |
probably benign |
|
|
R0524:Pygl
|
UTSW |
12 |
70,254,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Pygl
|
UTSW |
12 |
70,253,178 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0894:Pygl
|
UTSW |
12 |
70,241,148 (GRCm39) |
splice site |
probably benign |
|
|
R0905:Pygl
|
UTSW |
12 |
70,257,791 (GRCm39) |
splice site |
probably benign |
|
|
R1621:Pygl
|
UTSW |
12 |
70,237,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1647:Pygl
|
UTSW |
12 |
70,243,784 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R3082:Pygl
|
UTSW |
12 |
70,244,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3845:Pygl
|
UTSW |
12 |
70,245,217 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3876:Pygl
|
UTSW |
12 |
70,248,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4358:Pygl
|
UTSW |
12 |
70,242,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4614:Pygl
|
UTSW |
12 |
70,257,753 (GRCm39) |
splice site |
probably null |
|
|
R4707:Pygl
|
UTSW |
12 |
70,254,532 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4908:Pygl
|
UTSW |
12 |
70,243,807 (GRCm39) |
missense |
probably null |
|
|
R4940:Pygl
|
UTSW |
12 |
70,253,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5077:Pygl
|
UTSW |
12 |
70,248,666 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5186:Pygl
|
UTSW |
12 |
70,248,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5726:Pygl
|
UTSW |
12 |
70,237,916 (GRCm39) |
nonsense |
probably null |
|
|
R5953:Pygl
|
UTSW |
12 |
70,266,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5957:Pygl
|
UTSW |
12 |
70,246,494 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6020:Pygl
|
UTSW |
12 |
70,263,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6024:Pygl
|
UTSW |
12 |
70,243,841 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7050:Pygl
|
UTSW |
12 |
70,266,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7159:Pygl
|
UTSW |
12 |
70,244,180 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7194:Pygl
|
UTSW |
12 |
70,241,094 (GRCm39) |
missense |
probably benign |
|
|
R7283:Pygl
|
UTSW |
12 |
70,263,342 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7360:Pygl
|
UTSW |
12 |
70,274,306 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7446:Pygl
|
UTSW |
12 |
70,243,784 (GRCm39) |
missense |
probably benign |
|
|
R7637:Pygl
|
UTSW |
12 |
70,244,569 (GRCm39) |
splice site |
probably null |
|
|
R7886:Pygl
|
UTSW |
12 |
70,253,130 (GRCm39) |
splice site |
probably null |
|
|
R8054:Pygl
|
UTSW |
12 |
70,274,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8693:Pygl
|
UTSW |
12 |
70,244,180 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8753:Pygl
|
UTSW |
12 |
70,242,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8803:Pygl
|
UTSW |
12 |
70,242,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8842:Pygl
|
UTSW |
12 |
70,274,368 (GRCm39) |
intron |
probably benign |
|
|
R9192:Pygl
|
UTSW |
12 |
70,243,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9221:Pygl
|
UTSW |
12 |
70,242,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9437:Pygl
|
UTSW |
12 |
70,246,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9750:Pygl
|
UTSW |
12 |
70,245,303 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Z1176:Pygl
|
UTSW |
12 |
70,269,648 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTAAGCAGCTTCTCTGCACC -3'
(R):5'- AGTCGTCGTGAAAGATGCTGACC -3'
Sequencing Primer
(F):5'- AGTGGATCTTTGCTACACCG -3'
(R):5'- GATGCTGACCTCTCAGGAGAATC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation