Incidental Mutation 'R5287:Phkg2'
| ID |
424407 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phkg2
|
| Ensembl Gene |
ENSMUSG00000030815 |
| Gene Name |
phosphorylase kinase, gamma 2 (testis) |
| Synonyms |
1500017I02Rik |
| MMRRC Submission |
042871-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.541)
|
| Stock # |
R5287 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127172512-127182479 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GCTGCCGGACGAGTGGCCT to GCT
at 127181929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033086]
[ENSMUST00000072155]
[ENSMUST00000121004]
[ENSMUST00000146383]
[ENSMUST00000205633]
[ENSMUST00000154891]
|
| AlphaFold |
Q9DB30 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033086
|
| SMART Domains |
Protein: ENSMUSP00000033086
Gene: ENSMUSG00000030815
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
24 |
291 |
6.4e-104 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072155
|
| SMART Domains |
Protein: ENSMUSP00000072019
Gene: ENSMUSG00000057176
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLAMP
|
130 |
228 |
3.1e-37 |
PFAM |
|
low complexity region
|
243 |
274 |
N/A |
INTRINSIC |
|
coiled coil region
|
285 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000121004
|
| SMART Domains |
Protein: ENSMUSP00000113533
Gene: ENSMUSG00000030815
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
24 |
291 |
6.4e-104 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133621
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138158
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146383
|
| SMART Domains |
Protein: ENSMUSP00000115593
Gene: ENSMUSG00000030815
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
24 |
85 |
8.6e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206220
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151908
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205850
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206818
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149853
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154891
|
| SMART Domains |
Protein: ENSMUSP00000116860
Gene: ENSMUSG00000030815
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
24 |
78 |
4.5e-6 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
T |
C |
2: 93,666,298 (GRCm39) |
D463G |
probably damaging |
Het |
| Acsbg3 |
G |
T |
17: 57,183,221 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,588,001 (GRCm39) |
V929I |
probably benign |
Het |
| Anp32a |
A |
T |
9: 62,249,275 (GRCm39) |
I16F |
possibly damaging |
Het |
| Arpin |
T |
C |
7: 79,577,997 (GRCm39) |
E144G |
probably damaging |
Het |
| Asb18 |
T |
C |
1: 89,942,110 (GRCm39) |
T64A |
probably benign |
Het |
| Asxl2 |
A |
G |
12: 3,546,893 (GRCm39) |
N559S |
probably benign |
Het |
| Brd7 |
G |
T |
8: 89,084,169 (GRCm39) |
Q148K |
probably damaging |
Het |
| Brinp1 |
A |
G |
4: 68,711,201 (GRCm39) |
W336R |
probably benign |
Het |
| Btnl9 |
A |
G |
11: 49,060,434 (GRCm39) |
V438A |
probably benign |
Het |
| Cat |
T |
C |
2: 103,304,705 (GRCm39) |
T107A |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,397,263 (GRCm39) |
Y1080C |
possibly damaging |
Het |
| Ccdc138 |
T |
A |
10: 58,411,527 (GRCm39) |
F632I |
possibly damaging |
Het |
| Cd46 |
C |
T |
1: 194,744,719 (GRCm39) |
V340I |
possibly damaging |
Het |
| Celf1 |
T |
C |
2: 90,839,552 (GRCm39) |
S326P |
possibly damaging |
Het |
| Ces1e |
T |
G |
8: 93,935,240 (GRCm39) |
D404A |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,239,895 (GRCm39) |
|
probably null |
Het |
| Clhc1 |
A |
G |
11: 29,528,244 (GRCm39) |
|
probably benign |
Het |
| Cops8 |
C |
T |
1: 90,534,342 (GRCm39) |
|
probably benign |
Het |
| Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
| Csmd2 |
C |
T |
4: 128,380,677 (GRCm39) |
R2078C |
probably benign |
Het |
| Dnm1l |
A |
C |
16: 16,151,732 (GRCm39) |
V240G |
probably damaging |
Het |
| Fezf1 |
C |
T |
6: 23,248,010 (GRCm39) |
V22M |
probably benign |
Het |
| Gm6818 |
T |
G |
7: 38,099,911 (GRCm39) |
|
noncoding transcript |
Het |
| Hand2 |
C |
T |
8: 57,775,080 (GRCm39) |
L47F |
probably damaging |
Het |
| Insyn2b |
A |
T |
11: 34,353,058 (GRCm39) |
T367S |
probably benign |
Het |
| Itga7 |
C |
A |
10: 128,779,027 (GRCm39) |
R351S |
probably benign |
Het |
| Mmp8 |
G |
T |
9: 7,567,507 (GRCm39) |
A456S |
probably benign |
Het |
| Mroh5 |
TGGAG |
TG |
15: 73,654,923 (GRCm39) |
|
probably benign |
Het |
| Opn4 |
T |
C |
14: 34,314,894 (GRCm39) |
T460A |
probably benign |
Het |
| Or6b2 |
A |
T |
1: 92,408,019 (GRCm39) |
V108E |
possibly damaging |
Het |
| Otog |
T |
C |
7: 45,918,753 (GRCm39) |
F943S |
probably damaging |
Het |
| Pcnx1 |
A |
T |
12: 82,028,825 (GRCm39) |
Y1668F |
probably damaging |
Het |
| Pheta1 |
A |
G |
5: 121,990,794 (GRCm39) |
E52G |
possibly damaging |
Het |
| Phf24 |
A |
T |
4: 42,933,831 (GRCm39) |
|
probably null |
Het |
| Ppargc1a |
G |
A |
5: 51,620,167 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
G |
A |
4: 75,872,405 (GRCm39) |
R1355* |
probably null |
Het |
| Ptprn2 |
A |
T |
12: 117,175,482 (GRCm39) |
M721L |
probably damaging |
Het |
| Sec23ip |
A |
G |
7: 128,367,860 (GRCm39) |
E624G |
probably benign |
Het |
| Sfmbt1 |
G |
A |
14: 30,538,777 (GRCm39) |
V799M |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,073,607 (GRCm39) |
V1335A |
probably benign |
Het |
| Sp140 |
G |
A |
1: 85,538,545 (GRCm39) |
|
probably null |
Het |
| Spdye4c |
T |
C |
2: 128,434,560 (GRCm39) |
S46P |
possibly damaging |
Het |
| Syde1 |
T |
C |
10: 78,425,871 (GRCm39) |
R99G |
probably benign |
Het |
| T2 |
A |
T |
17: 8,636,835 (GRCm39) |
M57L |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,625,744 (GRCm39) |
S1402L |
probably benign |
Het |
| Tfap2e |
T |
C |
4: 126,628,439 (GRCm39) |
I172M |
probably benign |
Het |
| Tk1 |
A |
T |
11: 117,707,367 (GRCm39) |
V140E |
probably damaging |
Het |
| Tln2 |
G |
A |
9: 67,149,641 (GRCm39) |
T1192M |
probably damaging |
Het |
| Tmed8 |
C |
A |
12: 87,220,957 (GRCm39) |
A210S |
probably damaging |
Het |
| Tnip2 |
A |
G |
5: 34,671,108 (GRCm39) |
L45P |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,260,703 (GRCm39) |
V1396A |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,562,436 (GRCm39) |
S28803Y |
probably damaging |
Het |
| Wdr90 |
A |
T |
17: 26,080,441 (GRCm39) |
|
probably benign |
Het |
| Zfp7 |
G |
A |
15: 76,775,422 (GRCm39) |
R488Q |
probably damaging |
Het |
|
| Other mutations in Phkg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01953:Phkg2
|
APN |
7 |
127,181,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02259:Phkg2
|
APN |
7 |
127,181,458 (GRCm39) |
intron |
probably benign |
|
|
IGL02699:Phkg2
|
APN |
7 |
127,181,722 (GRCm39) |
missense |
probably benign |
|
|
IGL03039:Phkg2
|
APN |
7 |
127,178,866 (GRCm39) |
nonsense |
probably null |
|
|
R0326:Phkg2
|
UTSW |
7 |
127,173,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2141:Phkg2
|
UTSW |
7 |
127,181,386 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2142:Phkg2
|
UTSW |
7 |
127,181,386 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2763:Phkg2
|
UTSW |
7 |
127,179,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4614:Phkg2
|
UTSW |
7 |
127,176,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4615:Phkg2
|
UTSW |
7 |
127,176,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4616:Phkg2
|
UTSW |
7 |
127,176,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4666:Phkg2
|
UTSW |
7 |
127,177,156 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4981:Phkg2
|
UTSW |
7 |
127,181,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4993:Phkg2
|
UTSW |
7 |
127,173,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5416:Phkg2
|
UTSW |
7 |
127,182,107 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7276:Phkg2
|
UTSW |
7 |
127,181,558 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7655:Phkg2
|
UTSW |
7 |
127,182,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7656:Phkg2
|
UTSW |
7 |
127,182,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8504:Phkg2
|
UTSW |
7 |
127,181,528 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTTGAGCGCTGTGAAGGC -3'
(R):5'- GGAGTCTCCTTCGAGTTCAGTG -3'
Sequencing Primer
(F):5'- TGTGAAGGCAGCCAACC -3'
(R):5'- CTTCGAGTTCAGTGGCAGCAATG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation