Incidental Mutation 'R2405:Pygb'
| ID |
247944 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pygb
|
| Ensembl Gene |
ENSMUSG00000033059 |
| Gene Name |
brain glycogen phosphorylase |
| Synonyms |
|
| MMRRC Submission |
040371-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
R2405 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
150628716-150673668 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 150662695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 554
(Y554C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035743
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045441]
|
| AlphaFold |
Q8CI94 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045441
AA Change: Y554C
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000035743
Gene: ENSMUSG00000033059
AA Change: Y554C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosphorylase
|
113 |
829 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129610
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154366
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Abl1 |
T |
C |
2: 31,690,986 (GRCm39) |
L835P |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,607,774 (GRCm39) |
V1426D |
probably damaging |
Het |
| Ccny |
A |
G |
18: 9,353,480 (GRCm39) |
Y98H |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,660,626 (GRCm39) |
T509M |
probably damaging |
Het |
| Crnkl1 |
A |
T |
2: 145,770,077 (GRCm39) |
Y255* |
probably null |
Het |
| Cyp2d11 |
C |
T |
15: 82,273,467 (GRCm39) |
S468N |
possibly damaging |
Het |
| Dnah7b |
C |
A |
1: 46,402,114 (GRCm39) |
T3983N |
probably benign |
Het |
| Ebf1 |
T |
A |
11: 44,882,349 (GRCm39) |
M427K |
probably damaging |
Het |
| Fxr1 |
T |
A |
3: 34,116,003 (GRCm39) |
S438T |
probably damaging |
Het |
| Gabrr1 |
A |
T |
4: 33,157,110 (GRCm39) |
D209V |
probably damaging |
Het |
| Gbx2 |
G |
T |
1: 89,858,630 (GRCm39) |
|
probably benign |
Het |
| Gng14 |
A |
G |
8: 85,794,270 (GRCm39) |
I56T |
possibly damaging |
Het |
| Gulo |
A |
G |
14: 66,228,477 (GRCm39) |
|
probably null |
Het |
| Hhla1 |
A |
T |
15: 65,808,160 (GRCm39) |
L295* |
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,736,092 (GRCm39) |
I126L |
probably damaging |
Het |
| Hpse |
A |
G |
5: 100,856,637 (GRCm39) |
S121P |
possibly damaging |
Het |
| Inpp5d |
A |
G |
1: 87,627,451 (GRCm39) |
H321R |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kdm5b |
T |
A |
1: 134,536,754 (GRCm39) |
M658K |
probably damaging |
Het |
| Kidins220 |
A |
T |
12: 25,061,508 (GRCm39) |
E875V |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,511,810 (GRCm39) |
M53V |
unknown |
Het |
| Nlrp4b |
A |
G |
7: 10,448,655 (GRCm39) |
E286G |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Pde3a |
A |
T |
6: 141,426,968 (GRCm39) |
I710F |
probably damaging |
Het |
| Phb1 |
T |
C |
11: 95,566,094 (GRCm39) |
I126T |
probably benign |
Het |
| Ppp4r1 |
C |
T |
17: 66,118,341 (GRCm39) |
T164I |
possibly damaging |
Het |
| Psmc1 |
G |
A |
12: 100,086,362 (GRCm39) |
R333Q |
probably benign |
Het |
| Ror2 |
G |
A |
13: 53,284,980 (GRCm39) |
P144L |
possibly damaging |
Het |
| Serpina3a |
A |
T |
12: 104,087,577 (GRCm39) |
M357L |
possibly damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,444,063 (GRCm39) |
M361K |
probably benign |
Het |
| Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
| Slc15a2 |
G |
A |
16: 36,572,199 (GRCm39) |
Q691* |
probably null |
Het |
| Slc25a25 |
C |
T |
2: 32,307,731 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
A |
G |
5: 53,215,523 (GRCm39) |
N9S |
probably benign |
Het |
| Slc4a2 |
A |
G |
5: 24,640,599 (GRCm39) |
T665A |
probably damaging |
Het |
| Spef2 |
C |
A |
15: 9,626,120 (GRCm39) |
E1149* |
probably null |
Het |
| Tmem179 |
A |
G |
12: 112,468,347 (GRCm39) |
W45R |
probably damaging |
Het |
| Tmpo |
C |
A |
10: 90,999,216 (GRCm39) |
K190N |
probably damaging |
Het |
| Triml1 |
T |
C |
8: 43,583,320 (GRCm39) |
Y427C |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,770,558 (GRCm39) |
L720P |
probably damaging |
Het |
| Vmn1r60 |
A |
G |
7: 5,547,912 (GRCm39) |
Y63H |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,102 (GRCm39) |
C560S |
probably damaging |
Het |
| Vps35l |
G |
C |
7: 118,391,818 (GRCm39) |
A410P |
probably damaging |
Het |
| Zdhhc13 |
A |
G |
7: 48,472,478 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Pygb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00979:Pygb
|
APN |
2 |
150,661,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01395:Pygb
|
APN |
2 |
150,643,503 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01571:Pygb
|
APN |
2 |
150,672,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01960:Pygb
|
APN |
2 |
150,655,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03118:Pygb
|
APN |
2 |
150,662,731 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0106:Pygb
|
UTSW |
2 |
150,648,123 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0106:Pygb
|
UTSW |
2 |
150,648,123 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0423:Pygb
|
UTSW |
2 |
150,665,904 (GRCm39) |
missense |
probably benign |
|
|
R0545:Pygb
|
UTSW |
2 |
150,657,626 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0674:Pygb
|
UTSW |
2 |
150,657,054 (GRCm39) |
splice site |
probably null |
|
|
R1052:Pygb
|
UTSW |
2 |
150,628,858 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1590:Pygb
|
UTSW |
2 |
150,659,583 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1706:Pygb
|
UTSW |
2 |
150,669,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Pygb
|
UTSW |
2 |
150,658,692 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3522:Pygb
|
UTSW |
2 |
150,670,473 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4082:Pygb
|
UTSW |
2 |
150,668,391 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4319:Pygb
|
UTSW |
2 |
150,657,534 (GRCm39) |
splice site |
probably benign |
|
|
R4662:Pygb
|
UTSW |
2 |
150,657,036 (GRCm39) |
missense |
probably benign |
|
|
R5072:Pygb
|
UTSW |
2 |
150,643,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5665:Pygb
|
UTSW |
2 |
150,662,808 (GRCm39) |
splice site |
probably null |
|
|
R5874:Pygb
|
UTSW |
2 |
150,628,798 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5910:Pygb
|
UTSW |
2 |
150,657,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6610:Pygb
|
UTSW |
2 |
150,665,886 (GRCm39) |
splice site |
probably null |
|
|
R6820:Pygb
|
UTSW |
2 |
150,658,674 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7348:Pygb
|
UTSW |
2 |
150,628,903 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7920:Pygb
|
UTSW |
2 |
150,628,922 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7936:Pygb
|
UTSW |
2 |
150,657,589 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9226:Pygb
|
UTSW |
2 |
150,662,781 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9308:Pygb
|
UTSW |
2 |
150,668,297 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9618:Pygb
|
UTSW |
2 |
150,657,008 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTGAATGGCCAGAACACCC -3'
(R):5'- ATCTGTGGCTCATGAGGGAAG -3'
Sequencing Primer
(F):5'- GGCCAGAACACCCATTTTCATTGTAG -3'
(R):5'- AAGGCAGATGTTGTGCAATTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation