Incidental Mutation 'IGL03230:Grk2'
| ID |
413881 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Grk2
|
| Ensembl Gene |
ENSMUSG00000024858 |
| Gene Name |
G protein-coupled receptor kinase 2 |
| Synonyms |
betaARK1, Bark-1, Adrbk-1, beta ARK1, Adrbk1, beta-AR kinase-1, beta-adrenergic receptor kinase-1, beta ARK |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03230
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4336029-4356250 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4337857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 508
(E508K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025791]
[ENSMUST00000056888]
[ENSMUST00000088737]
[ENSMUST00000113837]
[ENSMUST00000163858]
[ENSMUST00000171123]
[ENSMUST00000167511]
[ENSMUST00000167215]
|
| AlphaFold |
Q99MK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025791
AA Change: E508K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000025791
Gene: ENSMUSG00000024858
AA Change: E508K
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
12 |
133 |
3.17e-30 |
SMART |
|
S_TKc
|
149 |
411 |
2.43e-86 |
SMART |
|
S_TK_X
|
412 |
491 |
5.3e-9 |
SMART |
|
PH
|
517 |
612 |
2.79e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056888
|
| SMART Domains |
Protein: ENSMUSP00000053783
Gene: ENSMUSG00000005986
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
39 |
68 |
2.77e-3 |
SMART |
|
ANK
|
72 |
101 |
9.75e1 |
SMART |
|
Pfam:GPCR_chapero_1
|
155 |
469 |
1.2e-111 |
PFAM |
|
UIM
|
482 |
501 |
3.2e-2 |
SMART |
|
UIM
|
528 |
547 |
1.92e2 |
SMART |
|
UIM
|
564 |
583 |
8.18e0 |
SMART |
|
UIM
|
589 |
605 |
6e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088737
AA Change: E550K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000086114
Gene: ENSMUSG00000024858
AA Change: E550K
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
54 |
175 |
3.17e-30 |
SMART |
|
S_TKc
|
191 |
453 |
2.43e-86 |
SMART |
|
S_TK_X
|
454 |
533 |
5.3e-9 |
SMART |
|
PH
|
559 |
654 |
2.79e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113837
|
| SMART Domains |
Protein: ENSMUSP00000109468
Gene: ENSMUSG00000024858
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
54 |
175 |
3.17e-30 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163858
|
| SMART Domains |
Protein: ENSMUSP00000128932
Gene: ENSMUSG00000005986
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
39 |
68 |
2.77e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164427
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165954
|
| SMART Domains |
Protein: ENSMUSP00000128177
Gene: ENSMUSG00000024858
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
169 |
5.8e-46 |
PFAM |
|
Pfam:Pkinase_Tyr
|
2 |
155 |
9.3e-20 |
PFAM |
|
S_TK_X
|
170 |
208 |
3.39e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169991
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167172
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169653
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171123
|
| SMART Domains |
Protein: ENSMUSP00000126930
Gene: ENSMUSG00000024858
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
54 |
175 |
3.17e-30 |
SMART |
|
Pfam:Pkinase_Tyr
|
191 |
378 |
1.1e-21 |
PFAM |
|
Pfam:Pkinase
|
191 |
381 |
4.9e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167511
|
| SMART Domains |
Protein: ENSMUSP00000129839
Gene: ENSMUSG00000024858
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RGS
|
74 |
134 |
4.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168594
|
| SMART Domains |
Protein: ENSMUSP00000126025
Gene: ENSMUSG00000024858
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:S_TKc
|
2 |
38 |
2e-18 |
BLAST |
|
S_TK_X
|
39 |
85 |
2.95e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167215
|
| SMART Domains |
Protein: ENSMUSP00000128037
Gene: ENSMUSG00000005986
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
39 |
68 |
2.77e-3 |
SMART |
|
ANK
|
72 |
101 |
9.75e1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene phosphorylates the beta-2-adrenergic receptor and appears to mediate agonist-specific desensitization observed at high agonist concentrations. This protein is an ubiquitous cytosolic enzyme that specifically phosphorylates the activated form of the beta-adrenergic and related G-protein-coupled receptors. Abnormal coupling of beta-adrenergic receptor to G protein is involved in the pathogenesis of the failing heart. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality likely due to heart failure. Homozygous mutant embryos are pale in appearance and exhibit ventricular hypoplasia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,244,313 (GRCm39) |
Q2059K |
probably benign |
Het |
| Abcc1 |
A |
T |
16: 14,275,811 (GRCm39) |
T902S |
probably benign |
Het |
| Acly |
A |
T |
11: 100,384,885 (GRCm39) |
C623S |
probably damaging |
Het |
| Ak8 |
A |
G |
2: 28,599,935 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,918,065 (GRCm39) |
D1811G |
probably damaging |
Het |
| Bms1 |
T |
A |
6: 118,395,522 (GRCm39) |
K8N |
possibly damaging |
Het |
| Cdc25b |
T |
C |
2: 131,030,060 (GRCm39) |
F79L |
probably benign |
Het |
| Cdh13 |
T |
A |
8: 119,969,056 (GRCm39) |
V471D |
probably damaging |
Het |
| Cnot4 |
T |
C |
6: 35,028,344 (GRCm39) |
D424G |
probably damaging |
Het |
| Cyp2a12 |
A |
T |
7: 26,729,017 (GRCm39) |
I70F |
possibly damaging |
Het |
| Cyp2c66 |
A |
T |
19: 39,172,302 (GRCm39) |
R406W |
possibly damaging |
Het |
| Cyp2g1 |
C |
A |
7: 26,518,828 (GRCm39) |
P408Q |
probably damaging |
Het |
| Defa26 |
A |
G |
8: 22,108,314 (GRCm39) |
D39G |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 30,992,023 (GRCm39) |
S3020T |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,223,133 (GRCm39) |
K1119* |
probably null |
Het |
| Gm10110 |
A |
C |
14: 90,135,733 (GRCm39) |
|
noncoding transcript |
Het |
| Hpx |
A |
T |
7: 105,248,519 (GRCm39) |
I94N |
probably benign |
Het |
| Il23r |
C |
T |
6: 67,400,948 (GRCm39) |
A461T |
probably benign |
Het |
| Iqca1 |
A |
G |
1: 90,072,724 (GRCm39) |
I52T |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,090,550 (GRCm39) |
M1146K |
probably benign |
Het |
| Kifap3 |
C |
A |
1: 163,653,293 (GRCm39) |
T293K |
probably benign |
Het |
| Luzp1 |
G |
A |
4: 136,270,189 (GRCm39) |
S804N |
probably benign |
Het |
| Mcmdc2 |
C |
T |
1: 10,002,221 (GRCm39) |
|
probably benign |
Het |
| Mctp1 |
G |
T |
13: 76,972,976 (GRCm39) |
A403S |
possibly damaging |
Het |
| Mtnr1a |
T |
C |
8: 45,540,435 (GRCm39) |
I132T |
probably damaging |
Het |
| Musk |
T |
A |
4: 58,296,710 (GRCm39) |
N103K |
probably damaging |
Het |
| Nipal2 |
T |
A |
15: 34,575,702 (GRCm39) |
D352V |
probably damaging |
Het |
| Oas1a |
T |
A |
5: 121,036,419 (GRCm39) |
K336I |
probably benign |
Het |
| Oasl1 |
T |
C |
5: 115,075,115 (GRCm39) |
S392P |
probably damaging |
Het |
| Or2ag17 |
A |
G |
7: 106,389,911 (GRCm39) |
L99P |
probably damaging |
Het |
| Or3a1c |
A |
G |
11: 74,046,099 (GRCm39) |
T40A |
probably benign |
Het |
| Or4c117 |
A |
G |
2: 88,955,892 (GRCm39) |
F61S |
probably damaging |
Het |
| Or4c120 |
A |
T |
2: 89,001,433 (GRCm39) |
M41K |
possibly damaging |
Het |
| Or4c58 |
T |
C |
2: 89,674,457 (GRCm39) |
T287A |
probably benign |
Het |
| Or5m8 |
A |
T |
2: 85,822,583 (GRCm39) |
T141S |
probably benign |
Het |
| Pate3 |
T |
G |
9: 35,557,402 (GRCm39) |
T85P |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,174,791 (GRCm39) |
N1988D |
probably damaging |
Het |
| Plcxd3 |
T |
A |
15: 4,546,272 (GRCm39) |
I92N |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 75,968,654 (GRCm39) |
R213* |
probably null |
Het |
| Skic3 |
T |
A |
13: 76,303,766 (GRCm39) |
|
probably benign |
Het |
| Slit1 |
T |
C |
19: 41,717,524 (GRCm39) |
D80G |
probably damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,230,531 (GRCm39) |
V472A |
probably damaging |
Het |
| Trp63 |
T |
A |
16: 25,707,760 (GRCm39) |
D485E |
probably damaging |
Het |
| Tsr1 |
T |
C |
11: 74,791,297 (GRCm39) |
V292A |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,198,390 (GRCm39) |
A1485S |
probably benign |
Het |
| Vmn1r49 |
T |
A |
6: 90,049,650 (GRCm39) |
R117S |
probably damaging |
Het |
| Vmn2r97 |
C |
A |
17: 19,149,668 (GRCm39) |
P352H |
probably benign |
Het |
| Zxdc |
C |
T |
6: 90,350,785 (GRCm39) |
T412I |
probably damaging |
Het |
|
| Other mutations in Grk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00757:Grk2
|
APN |
19 |
4,339,339 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00927:Grk2
|
APN |
19 |
4,337,982 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01465:Grk2
|
APN |
19 |
4,340,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02692:Grk2
|
APN |
19 |
4,340,716 (GRCm39) |
splice site |
probably benign |
|
|
IGL02870:Grk2
|
APN |
19 |
4,340,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03210:Grk2
|
APN |
19 |
4,337,857 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03227:Grk2
|
APN |
19 |
4,337,857 (GRCm39) |
missense |
probably benign |
0.01 |
|
Greco
|
UTSW |
19 |
4,340,630 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4480001:Grk2
|
UTSW |
19 |
4,337,437 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0008:Grk2
|
UTSW |
19 |
4,337,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0371:Grk2
|
UTSW |
19 |
4,341,614 (GRCm39) |
splice site |
probably null |
|
|
R0426:Grk2
|
UTSW |
19 |
4,340,628 (GRCm39) |
splice site |
probably null |
|
|
R0494:Grk2
|
UTSW |
19 |
4,341,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0833:Grk2
|
UTSW |
19 |
4,339,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1240:Grk2
|
UTSW |
19 |
4,340,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1446:Grk2
|
UTSW |
19 |
4,337,437 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1499:Grk2
|
UTSW |
19 |
4,337,222 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1664:Grk2
|
UTSW |
19 |
4,337,268 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1796:Grk2
|
UTSW |
19 |
4,337,968 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1803:Grk2
|
UTSW |
19 |
4,344,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2021:Grk2
|
UTSW |
19 |
4,340,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3947:Grk2
|
UTSW |
19 |
4,342,445 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4551:Grk2
|
UTSW |
19 |
4,336,084 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4945:Grk2
|
UTSW |
19 |
4,340,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5299:Grk2
|
UTSW |
19 |
4,342,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5753:Grk2
|
UTSW |
19 |
4,340,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5754:Grk2
|
UTSW |
19 |
4,340,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Grk2
|
UTSW |
19 |
4,337,925 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6026:Grk2
|
UTSW |
19 |
4,340,811 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7117:Grk2
|
UTSW |
19 |
4,340,630 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7468:Grk2
|
UTSW |
19 |
4,356,063 (GRCm39) |
start gained |
probably benign |
|
|
R7764:Grk2
|
UTSW |
19 |
4,337,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8250:Grk2
|
UTSW |
19 |
4,339,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8789:Grk2
|
UTSW |
19 |
4,338,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9468:Grk2
|
UTSW |
19 |
4,344,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9508:Grk2
|
UTSW |
19 |
4,341,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Grk2
|
UTSW |
19 |
4,340,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9694:Grk2
|
UTSW |
19 |
4,338,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0009:Grk2
|
UTSW |
19 |
4,341,617 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Grk2
|
UTSW |
19 |
4,337,673 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation