Incidental Mutation 'R3622:Phka2'
| ID |
268693 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phka2
|
| Ensembl Gene |
ENSMUSG00000031295 |
| Gene Name |
phosphorylase kinase alpha 2 |
| Synonyms |
k, 6330505C01Rik, Phk |
| MMRRC Submission |
040677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R3622 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
X |
| Chromosomal Location |
159285162-159381874 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 159327291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 334
(Y334*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033652]
[ENSMUST00000112376]
[ENSMUST00000112377]
[ENSMUST00000112380]
|
| AlphaFold |
Q8BWJ3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033652
AA Change: Y334*
|
| SMART Domains |
Protein: ENSMUSP00000033652
Gene: ENSMUSG00000031295
AA Change: Y334*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_15
|
8 |
919 |
9.2e-200 |
PFAM |
|
low complexity region
|
1039 |
1055 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112376
AA Change: Y334*
|
| SMART Domains |
Protein: ENSMUSP00000107995
Gene: ENSMUSG00000031295
AA Change: Y334*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_15
|
8 |
521 |
1.5e-158 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112377
AA Change: Y334*
|
| SMART Domains |
Protein: ENSMUSP00000107996
Gene: ENSMUSG00000031295
AA Change: Y334*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_15
|
8 |
919 |
9.2e-200 |
PFAM |
|
low complexity region
|
1039 |
1055 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112380
AA Change: Y334*
|
| SMART Domains |
Protein: ENSMUSP00000107999
Gene: ENSMUSG00000031295
AA Change: Y334*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_15
|
8 |
919 |
4.5e-197 |
PFAM |
|
low complexity region
|
1039 |
1055 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154142
|
| Meta Mutation Damage Score |
0.9712 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (42/42) |
| 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, and the hepatic isoform is encoded by this gene. 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, which are encoded by two different genes. 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 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,950,036 (GRCm39) |
Y503* |
probably null |
Het |
| Akap9 |
C |
A |
5: 4,026,235 (GRCm39) |
Q1297K |
possibly damaging |
Het |
| Dffb |
T |
C |
4: 154,049,976 (GRCm39) |
T296A |
probably damaging |
Het |
| Dpf1 |
G |
A |
7: 29,015,631 (GRCm39) |
|
probably null |
Het |
| Elp1 |
A |
T |
4: 56,759,925 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
T |
C |
5: 143,371,774 (GRCm39) |
S666P |
probably damaging |
Het |
| Gucy2e |
T |
A |
11: 69,115,877 (GRCm39) |
E835V |
probably damaging |
Het |
| Hdac5 |
G |
A |
11: 102,086,644 (GRCm39) |
P120S |
probably benign |
Het |
| Htr1d |
T |
C |
4: 136,170,815 (GRCm39) |
I348T |
probably damaging |
Het |
| Hyal4 |
A |
T |
6: 24,765,737 (GRCm39) |
S364C |
probably damaging |
Het |
| Igkv1-133 |
A |
T |
6: 67,701,944 (GRCm39) |
Q16L |
probably benign |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Met |
A |
T |
6: 17,549,085 (GRCm39) |
D979V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,772,245 (GRCm39) |
T1702A |
probably damaging |
Het |
| Midn |
A |
G |
10: 79,986,144 (GRCm39) |
D78G |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,405,595 (GRCm39) |
|
probably benign |
Het |
| Oma1 |
T |
C |
4: 103,223,288 (GRCm39) |
I491T |
probably benign |
Het |
| Or1e30 |
A |
G |
11: 73,678,567 (GRCm39) |
T268A |
probably benign |
Het |
| Or5ak24 |
C |
T |
2: 85,260,837 (GRCm39) |
C112Y |
probably benign |
Het |
| Or5b107 |
T |
A |
19: 13,143,020 (GRCm39) |
M214K |
probably benign |
Het |
| Or8b48 |
A |
G |
9: 38,492,792 (GRCm39) |
Y73C |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,897,470 (GRCm39) |
L57P |
probably damaging |
Het |
| Plin4 |
G |
T |
17: 56,411,112 (GRCm39) |
T973K |
possibly damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,515 (GRCm39) |
R143H |
possibly damaging |
Het |
| Rps18 |
G |
C |
17: 34,171,247 (GRCm39) |
|
probably null |
Het |
| Samd9l |
A |
T |
6: 3,374,032 (GRCm39) |
C1076* |
probably null |
Het |
| Scml4 |
T |
C |
10: 42,806,607 (GRCm39) |
|
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 40,017,890 (GRCm39) |
V48A |
probably benign |
Het |
| Slc6a5 |
T |
C |
7: 49,567,371 (GRCm39) |
V275A |
probably benign |
Het |
| Smad9 |
C |
T |
3: 54,696,705 (GRCm39) |
R257W |
probably damaging |
Het |
| Snrpb |
C |
A |
2: 130,017,299 (GRCm39) |
R73L |
probably null |
Het |
| Srsf9 |
C |
T |
5: 115,468,571 (GRCm39) |
A69V |
probably damaging |
Het |
| Stfa2 |
A |
G |
16: 36,224,433 (GRCm39) |
Y90H |
probably damaging |
Het |
| Tgm6 |
T |
A |
2: 129,993,681 (GRCm39) |
V640E |
possibly damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,640,451 (GRCm39) |
R1414C |
probably damaging |
Het |
| Tyk2 |
A |
T |
9: 21,038,606 (GRCm39) |
C8S |
probably damaging |
Het |
| Upp2 |
G |
A |
2: 58,680,128 (GRCm39) |
R300Q |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,593,855 (GRCm39) |
|
probably benign |
Het |
| Veph1 |
C |
T |
3: 66,122,858 (GRCm39) |
V224I |
probably benign |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,437 (GRCm39) |
F132I |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,605,025 (GRCm39) |
S113G |
probably benign |
Het |
| Vps53 |
A |
C |
11: 76,008,609 (GRCm39) |
V237G |
probably benign |
Het |
|
| Other mutations in Phka2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02063:Phka2
|
APN |
X |
159,347,209 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02179:Phka2
|
APN |
X |
159,337,376 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03034:Phka2
|
APN |
X |
159,360,546 (GRCm39) |
nonsense |
probably null |
|
|
R1996:Phka2
|
UTSW |
X |
159,324,411 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2054:Phka2
|
UTSW |
X |
159,337,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2237:Phka2
|
UTSW |
X |
159,324,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2238:Phka2
|
UTSW |
X |
159,324,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2239:Phka2
|
UTSW |
X |
159,324,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3623:Phka2
|
UTSW |
X |
159,327,291 (GRCm39) |
nonsense |
probably null |
|
|
R3701:Phka2
|
UTSW |
X |
159,316,045 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5735:Phka2
|
UTSW |
X |
159,342,862 (GRCm39) |
frame shift |
probably null |
|
|
R5736:Phka2
|
UTSW |
X |
159,342,862 (GRCm39) |
frame shift |
probably null |
|
|
R5737:Phka2
|
UTSW |
X |
159,342,862 (GRCm39) |
frame shift |
probably null |
|
|
R5738:Phka2
|
UTSW |
X |
159,342,862 (GRCm39) |
frame shift |
probably null |
|
|
R6812:Phka2
|
UTSW |
X |
159,316,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6813:Phka2
|
UTSW |
X |
159,316,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6957:Phka2
|
UTSW |
X |
159,316,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6960:Phka2
|
UTSW |
X |
159,316,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0066:Phka2
|
UTSW |
X |
159,332,268 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGTATTGACTGAGACAGG -3'
(R):5'- AGCATGAAGTCTAATCACTCAGAG -3'
Sequencing Primer
(F):5'- ACTGAGACAGGCAAGGGAAACC -3'
(R):5'- AGATTCTACTGCTGTGAGAAGCCC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation