Incidental Mutation 'R5973:Grk2'
ID |
471580 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
044156-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5973 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
4336029-4356250 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4337925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 485
(D485G)
|
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 |
possibly damaging
Transcript: ENSMUST00000025791
AA Change: D485G
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000025791 Gene: ENSMUSG00000024858 AA Change: D485G
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 |
possibly damaging
Transcript: ENSMUST00000088737
AA Change: D527G
PolyPhen 2
Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000086114 Gene: ENSMUSG00000024858 AA Change: D527G
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: ENSMUST00000169653
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169991
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167172
|
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: 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: 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.3%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
T |
A |
5: 114,364,928 (GRCm39) |
I1536N |
probably damaging |
Het |
Actr1b |
A |
G |
1: 36,741,162 (GRCm39) |
S140P |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Anapc7 |
A |
T |
5: 122,566,366 (GRCm39) |
T92S |
probably benign |
Het |
Ash2l |
G |
A |
8: 26,307,642 (GRCm39) |
T585M |
possibly damaging |
Het |
Asxl1 |
T |
C |
2: 153,243,931 (GRCm39) |
F1495L |
probably damaging |
Het |
Atp5pf |
T |
C |
16: 84,625,328 (GRCm39) |
|
probably null |
Het |
Bcl2a1c |
A |
G |
9: 114,159,465 (GRCm39) |
N81S |
probably benign |
Het |
Bfsp2 |
A |
C |
9: 103,309,856 (GRCm39) |
|
probably null |
Het |
Casq1 |
A |
G |
1: 172,047,068 (GRCm39) |
Y64H |
probably damaging |
Het |
Ceacam16 |
A |
G |
7: 19,590,262 (GRCm39) |
V227A |
probably damaging |
Het |
Cers6 |
T |
A |
2: 68,898,969 (GRCm39) |
|
probably null |
Het |
Chrnb1 |
A |
G |
11: 69,686,671 (GRCm39) |
|
probably benign |
Het |
Clpb |
G |
A |
7: 101,313,204 (GRCm39) |
V63I |
probably benign |
Het |
Dnah11 |
G |
T |
12: 118,074,687 (GRCm39) |
D1388E |
probably benign |
Het |
Dst |
T |
C |
1: 34,195,938 (GRCm39) |
L405P |
probably damaging |
Het |
Dstyk |
A |
G |
1: 132,362,149 (GRCm39) |
E193G |
probably damaging |
Het |
Dusp2 |
A |
T |
2: 127,179,208 (GRCm39) |
S188C |
probably damaging |
Het |
Ep400 |
T |
C |
5: 110,877,697 (GRCm39) |
I810V |
unknown |
Het |
Faim2 |
C |
T |
15: 99,419,132 (GRCm39) |
G79D |
probably benign |
Het |
Fpgt |
A |
T |
3: 154,793,040 (GRCm39) |
I329K |
probably damaging |
Het |
Fut8 |
A |
G |
12: 77,411,771 (GRCm39) |
T78A |
probably benign |
Het |
Gm15130 |
A |
G |
2: 110,965,714 (GRCm39) |
|
probably benign |
Het |
Gm17087 |
A |
C |
17: 8,785,529 (GRCm39) |
I58R |
probably benign |
Het |
Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,439,568 (GRCm39) |
S5539P |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,310,335 (GRCm39) |
V3310M |
probably damaging |
Het |
Impdh1 |
A |
T |
6: 29,207,161 (GRCm39) |
L61Q |
probably damaging |
Het |
Inhbb |
A |
T |
1: 119,345,806 (GRCm39) |
V161D |
possibly damaging |
Het |
Kansl2 |
C |
T |
15: 98,427,306 (GRCm39) |
V192M |
probably damaging |
Het |
Krt1c |
T |
C |
15: 101,724,747 (GRCm39) |
K288E |
probably damaging |
Het |
Lyar |
A |
G |
5: 38,385,290 (GRCm39) |
K110R |
probably damaging |
Het |
Lyrm9 |
C |
A |
11: 78,726,961 (GRCm39) |
H35N |
probably damaging |
Het |
Mab21l1 |
A |
G |
3: 55,690,533 (GRCm39) |
D40G |
probably benign |
Het |
Maml2 |
A |
C |
9: 13,532,915 (GRCm39) |
|
probably benign |
Het |
Mbd5 |
A |
G |
2: 49,162,401 (GRCm39) |
H69R |
probably benign |
Het |
Morc2b |
G |
T |
17: 33,356,446 (GRCm39) |
A442E |
probably damaging |
Het |
Moxd2 |
A |
T |
6: 40,855,744 (GRCm39) |
L615Q |
probably damaging |
Het |
Msh2 |
G |
A |
17: 88,016,011 (GRCm39) |
G548S |
probably damaging |
Het |
Napg |
G |
A |
18: 63,128,054 (GRCm39) |
S279N |
possibly damaging |
Het |
Ncor1 |
A |
T |
11: 62,240,136 (GRCm39) |
|
probably null |
Het |
Nkiras2 |
G |
T |
11: 100,516,866 (GRCm39) |
R128L |
probably damaging |
Het |
Npy4r |
T |
C |
14: 33,868,664 (GRCm39) |
D208G |
probably benign |
Het |
Or10ak11 |
C |
T |
4: 118,687,413 (GRCm39) |
V75I |
probably benign |
Het |
Or52e2 |
A |
G |
7: 102,804,081 (GRCm39) |
V291A |
possibly damaging |
Het |
Or8b42 |
G |
T |
9: 38,341,627 (GRCm39) |
L16F |
probably damaging |
Het |
Pcdhgb2 |
A |
G |
18: 37,823,560 (GRCm39) |
T184A |
probably benign |
Het |
Plxna4 |
T |
C |
6: 32,228,000 (GRCm39) |
|
probably null |
Het |
Pnldc1 |
C |
T |
17: 13,113,260 (GRCm39) |
E328K |
probably benign |
Het |
Pon1 |
T |
A |
6: 5,185,334 (GRCm39) |
L55F |
probably damaging |
Het |
Pramel51 |
T |
C |
12: 88,142,683 (GRCm39) |
I312V |
probably benign |
Het |
Prkci |
G |
T |
3: 31,092,605 (GRCm39) |
D296Y |
probably damaging |
Het |
Prkd1 |
T |
C |
12: 50,435,038 (GRCm39) |
H563R |
probably damaging |
Het |
Ptpru |
T |
C |
4: 131,546,236 (GRCm39) |
N266S |
probably benign |
Het |
Rapgef6 |
A |
T |
11: 54,530,609 (GRCm39) |
I589F |
probably damaging |
Het |
Rcan3 |
A |
T |
4: 135,145,853 (GRCm39) |
S127T |
probably benign |
Het |
Sh3tc2 |
A |
G |
18: 62,110,975 (GRCm39) |
D277G |
probably benign |
Het |
Sipa1l3 |
G |
A |
7: 29,098,949 (GRCm39) |
A440V |
probably benign |
Het |
Slc13a2 |
A |
C |
11: 78,291,358 (GRCm39) |
I372S |
probably damaging |
Het |
Slco1a7 |
T |
A |
6: 141,700,182 (GRCm39) |
T117S |
probably benign |
Het |
Spns1 |
A |
T |
7: 125,969,495 (GRCm39) |
I528N |
probably damaging |
Het |
Sult6b2 |
T |
C |
6: 142,736,021 (GRCm39) |
K191R |
probably benign |
Het |
Swt1 |
A |
G |
1: 151,278,700 (GRCm39) |
|
probably null |
Het |
Tcn2 |
A |
T |
11: 3,877,546 (GRCm39) |
L34* |
probably null |
Het |
Tmem131l |
C |
T |
3: 83,829,553 (GRCm39) |
A1035T |
possibly damaging |
Het |
Trpc4 |
A |
G |
3: 54,223,263 (GRCm39) |
E733G |
probably damaging |
Het |
Uap1l1 |
A |
T |
2: 25,254,642 (GRCm39) |
H184Q |
possibly damaging |
Het |
Vil1 |
T |
G |
1: 74,455,192 (GRCm39) |
V48G |
possibly damaging |
Het |
Vps39 |
A |
T |
2: 120,159,186 (GRCm39) |
H367Q |
probably damaging |
Het |
Wars2 |
A |
G |
3: 99,094,962 (GRCm39) |
T86A |
probably benign |
Het |
Wdr90 |
A |
G |
17: 26,064,107 (GRCm39) |
S1872P |
probably damaging |
Het |
Wdr90 |
A |
G |
17: 26,065,381 (GRCm39) |
L1625P |
probably damaging |
Het |
Xaf1 |
A |
T |
11: 72,194,256 (GRCm39) |
M46L |
probably damaging |
Het |
Zfp1005 |
A |
G |
2: 150,109,855 (GRCm39) |
T182A |
unknown |
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 |
IGL03230: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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGTACAAGACATGGGATGCAG -3'
(R):5'- GATGGTGGTTACAGGTGACC -3'
Sequencing Primer
(F):5'- ATGGGATGCAGGCTCAGCAC -3'
(R):5'- TACAGGTGACCATGCCTAGCTTAG -3'
|
Posted On |
2017-03-31 |