Incidental Mutation 'R5017:Phkb'
| ID |
385619 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phkb
|
| Ensembl Gene |
ENSMUSG00000036879 |
| Gene Name |
phosphorylase kinase beta |
| Synonyms |
|
| MMRRC Submission |
042608-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.877)
|
| Stock # |
R5017 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
86567588-86788005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86776438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 954
(H954L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053771]
|
| AlphaFold |
Q7TSH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053771
AA Change: H954L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879
AA Change: H954L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_15
|
39 |
870 |
1.5e-111 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162305
|
| Meta Mutation Damage Score |
0.0912 |
| Coding Region Coverage |
- 1x: 98.1%
- 3x: 97.0%
- 10x: 94.3%
- 20x: 87.9%
|
| Validation Efficiency |
96% (46/48) |
| 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, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, 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 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
T |
C |
14: 68,810,694 (GRCm39) |
D154G |
probably benign |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| Arhgef3 |
G |
T |
14: 26,987,487 (GRCm39) |
R20L |
possibly damaging |
Het |
| Birc2 |
A |
T |
9: 7,818,886 (GRCm39) |
C568* |
probably null |
Het |
| Bltp3a |
T |
A |
17: 28,113,713 (GRCm39) |
L1295* |
probably null |
Het |
| Cep44 |
A |
G |
8: 56,997,242 (GRCm39) |
S99P |
possibly damaging |
Het |
| Clstn2 |
A |
G |
9: 97,365,139 (GRCm39) |
W456R |
probably damaging |
Het |
| Cog5 |
T |
A |
12: 31,970,604 (GRCm39) |
S783T |
probably benign |
Het |
| Endod1 |
G |
A |
9: 14,268,187 (GRCm39) |
R433* |
probably null |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gdpd4 |
C |
A |
7: 97,653,482 (GRCm39) |
Y498* |
probably null |
Het |
| Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
| Hapln2 |
A |
G |
3: 87,931,308 (GRCm39) |
V69A |
probably damaging |
Het |
| Ifit3 |
A |
C |
19: 34,564,592 (GRCm39) |
N46T |
possibly damaging |
Het |
| Kcnh8 |
T |
C |
17: 53,200,958 (GRCm39) |
L464S |
probably damaging |
Het |
| Lrrc9 |
C |
A |
12: 72,553,099 (GRCm39) |
R1334S |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,345,906 (GRCm39) |
F2631L |
probably damaging |
Het |
| Mafa |
T |
C |
15: 75,619,338 (GRCm39) |
H145R |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,226,795 (GRCm39) |
T1411A |
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,571,717 (GRCm39) |
|
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,807,484 (GRCm39) |
|
probably benign |
Het |
| Or10g6 |
A |
T |
9: 39,933,672 (GRCm39) |
|
probably benign |
Het |
| Or8a1b |
A |
T |
9: 37,622,821 (GRCm39) |
Y251* |
probably null |
Het |
| Or8g20 |
A |
T |
9: 39,396,051 (GRCm39) |
M166K |
possibly damaging |
Het |
| Pde11a |
A |
T |
2: 75,966,711 (GRCm39) |
D579E |
probably benign |
Het |
| Phldb3 |
C |
T |
7: 24,319,521 (GRCm39) |
T353M |
probably damaging |
Het |
| Pigu |
A |
T |
2: 155,141,128 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
A |
G |
2: 60,353,104 (GRCm39) |
|
probably null |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
C |
A |
18: 78,899,809 (GRCm39) |
G1286V |
possibly damaging |
Het |
| Siglecg |
T |
A |
7: 43,060,810 (GRCm39) |
|
probably benign |
Het |
| Slc25a46 |
A |
T |
18: 31,738,836 (GRCm39) |
H118Q |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,132,510 (GRCm39) |
F167I |
unknown |
Het |
| Sycp1 |
A |
T |
3: 102,803,303 (GRCm39) |
|
probably null |
Het |
| Tmem132c |
A |
G |
5: 127,640,414 (GRCm39) |
T862A |
probably benign |
Het |
| Tmem256 |
T |
C |
11: 69,729,818 (GRCm39) |
|
probably benign |
Het |
| Tpr |
A |
T |
1: 150,274,388 (GRCm39) |
E98D |
probably benign |
Het |
| Trdn |
A |
G |
10: 33,344,155 (GRCm39) |
D623G |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,812,879 (GRCm39) |
N1485S |
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,894,580 (GRCm39) |
|
probably benign |
Het |
| Vmn1r227 |
T |
C |
17: 20,956,340 (GRCm39) |
|
noncoding transcript |
Het |
| Xpo6 |
G |
A |
7: 125,703,919 (GRCm39) |
A21V |
probably benign |
Het |
| Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Phkb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00840:Phkb
|
APN |
8 |
86,684,216 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL01126:Phkb
|
APN |
8 |
86,672,730 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01700:Phkb
|
APN |
8 |
86,744,094 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01761:Phkb
|
APN |
8 |
86,745,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02404:Phkb
|
APN |
8 |
86,604,744 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02672:Phkb
|
APN |
8 |
86,668,987 (GRCm39) |
missense |
probably benign |
|
|
IGL02682:Phkb
|
APN |
8 |
86,602,275 (GRCm39) |
makesense |
probably null |
|
|
IGL02693:Phkb
|
APN |
8 |
86,668,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02798:Phkb
|
APN |
8 |
86,770,406 (GRCm39) |
missense |
probably benign |
|
|
IGL02888:Phkb
|
APN |
8 |
86,662,101 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03106:Phkb
|
APN |
8 |
86,745,095 (GRCm39) |
splice site |
probably benign |
|
|
PIT4544001:Phkb
|
UTSW |
8 |
86,738,266 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0088:Phkb
|
UTSW |
8 |
86,669,020 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0107:Phkb
|
UTSW |
8 |
86,743,560 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0504:Phkb
|
UTSW |
8 |
86,783,153 (GRCm39) |
missense |
probably benign |
|
|
R0569:Phkb
|
UTSW |
8 |
86,744,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Phkb
|
UTSW |
8 |
86,602,322 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0894:Phkb
|
UTSW |
8 |
86,744,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1491:Phkb
|
UTSW |
8 |
86,602,286 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1502:Phkb
|
UTSW |
8 |
86,785,968 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1595:Phkb
|
UTSW |
8 |
86,753,182 (GRCm39) |
splice site |
probably benign |
|
|
R1686:Phkb
|
UTSW |
8 |
86,748,278 (GRCm39) |
missense |
probably benign |
|
|
R1913:Phkb
|
UTSW |
8 |
86,628,549 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1919:Phkb
|
UTSW |
8 |
86,648,790 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1968:Phkb
|
UTSW |
8 |
86,697,580 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2008:Phkb
|
UTSW |
8 |
86,783,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2051:Phkb
|
UTSW |
8 |
86,776,450 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2148:Phkb
|
UTSW |
8 |
86,744,115 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2305:Phkb
|
UTSW |
8 |
86,770,431 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3801:Phkb
|
UTSW |
8 |
86,648,858 (GRCm39) |
nonsense |
probably null |
|
|
R3804:Phkb
|
UTSW |
8 |
86,648,858 (GRCm39) |
nonsense |
probably null |
|
|
R4159:Phkb
|
UTSW |
8 |
86,748,162 (GRCm39) |
splice site |
probably null |
|
|
R4624:Phkb
|
UTSW |
8 |
86,575,341 (GRCm39) |
intron |
probably benign |
|
|
R4833:Phkb
|
UTSW |
8 |
86,628,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5169:Phkb
|
UTSW |
8 |
86,623,120 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5337:Phkb
|
UTSW |
8 |
86,604,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5391:Phkb
|
UTSW |
8 |
86,744,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5395:Phkb
|
UTSW |
8 |
86,744,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5480:Phkb
|
UTSW |
8 |
86,648,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5538:Phkb
|
UTSW |
8 |
86,648,756 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5623:Phkb
|
UTSW |
8 |
86,569,677 (GRCm39) |
unclassified |
probably benign |
|
|
R5753:Phkb
|
UTSW |
8 |
86,604,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5909:Phkb
|
UTSW |
8 |
86,748,076 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5929:Phkb
|
UTSW |
8 |
86,697,543 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6093:Phkb
|
UTSW |
8 |
86,668,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6320:Phkb
|
UTSW |
8 |
86,602,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6324:Phkb
|
UTSW |
8 |
86,745,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6626:Phkb
|
UTSW |
8 |
86,648,780 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6687:Phkb
|
UTSW |
8 |
86,756,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6848:Phkb
|
UTSW |
8 |
86,756,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7228:Phkb
|
UTSW |
8 |
86,569,636 (GRCm39) |
unclassified |
probably benign |
|
|
R7260:Phkb
|
UTSW |
8 |
86,604,759 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7271:Phkb
|
UTSW |
8 |
86,770,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7314:Phkb
|
UTSW |
8 |
86,669,021 (GRCm39) |
splice site |
probably null |
|
|
R7586:Phkb
|
UTSW |
8 |
86,756,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:Phkb
|
UTSW |
8 |
86,667,516 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7958:Phkb
|
UTSW |
8 |
86,748,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8269:Phkb
|
UTSW |
8 |
86,756,211 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8811:Phkb
|
UTSW |
8 |
86,745,156 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8967:Phkb
|
UTSW |
8 |
86,756,063 (GRCm39) |
intron |
probably benign |
|
|
R9176:Phkb
|
UTSW |
8 |
86,697,623 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9350:Phkb
|
UTSW |
8 |
86,743,493 (GRCm39) |
nonsense |
probably null |
|
|
R9465:Phkb
|
UTSW |
8 |
86,623,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9480:Phkb
|
UTSW |
8 |
86,684,216 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9490:Phkb
|
UTSW |
8 |
86,628,525 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9700:Phkb
|
UTSW |
8 |
86,567,696 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9708:Phkb
|
UTSW |
8 |
86,783,119 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9716:Phkb
|
UTSW |
8 |
86,604,798 (GRCm39) |
missense |
probably null |
0.00 |
|
X0021:Phkb
|
UTSW |
8 |
86,756,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCACACTTAACCCTGCTC -3'
(R):5'- TCTGTCTACATGGACACTGAAATTTGG -3'
Sequencing Primer
(F):5'- GCTCTTTCCAGTAACAAACTTGATC -3'
(R):5'- AAACATGGGATGGATAAAAACAATTC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation