Incidental Mutation 'R4561:Grk4'
| ID |
343085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grk4
|
| Ensembl Gene |
ENSMUSG00000052783 |
| Gene Name |
G protein-coupled receptor kinase 4 |
| Synonyms |
Gprk2l, A830025H08Rik |
| MMRRC Submission |
041786-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R4561 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
34817723-34912649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 34852157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 134
(Q134K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074223
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001112]
[ENSMUST00000074651]
|
| AlphaFold |
O70291 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001112
AA Change: Q134K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000001112
Gene: ENSMUSG00000052783
AA Change: Q134K
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
51 |
171 |
1.61e-31 |
SMART |
|
S_TKc
|
186 |
448 |
7.78e-85 |
SMART |
|
S_TK_X
|
449 |
528 |
2.98e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074651
AA Change: Q134K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000074223
Gene: ENSMUSG00000052783
AA Change: Q134K
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
51 |
163 |
1.39e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201216
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating its deactivation. This gene has been linked to both genetic and acquired hypertension. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice heterozygous for a knock-out allele are viable, fertile and overtly normal. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(2)
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
T |
C |
10: 69,837,848 (GRCm39) |
S1601P |
probably damaging |
Het |
| Arnt |
A |
G |
3: 95,359,924 (GRCm39) |
N56D |
probably damaging |
Het |
| Atad5 |
A |
G |
11: 79,986,715 (GRCm39) |
T601A |
probably benign |
Het |
| Calr4 |
A |
G |
4: 109,103,379 (GRCm39) |
N163S |
probably damaging |
Het |
| Cenpc1 |
C |
A |
5: 86,195,491 (GRCm39) |
A93S |
probably damaging |
Het |
| Cep135 |
C |
T |
5: 76,786,040 (GRCm39) |
H1048Y |
possibly damaging |
Het |
| Ctnna2 |
A |
G |
6: 77,613,696 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
T |
C |
8: 62,395,495 (GRCm39) |
L144P |
probably damaging |
Het |
| Dera |
A |
T |
6: 137,757,736 (GRCm39) |
T96S |
possibly damaging |
Het |
| Dock9 |
T |
A |
14: 121,796,419 (GRCm39) |
M1853L |
probably benign |
Het |
| Erbb4 |
G |
A |
1: 68,383,080 (GRCm39) |
R306* |
probably null |
Het |
| Glyat |
G |
T |
19: 12,628,644 (GRCm39) |
L146F |
possibly damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,245,618 (GRCm39) |
Q181R |
probably benign |
Het |
| Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
| Ipo4 |
C |
T |
14: 55,867,546 (GRCm39) |
|
probably benign |
Het |
| Ivl |
CCTGCTGCTGCT |
CCTGCTGCTGCTGCT |
3: 92,479,262 (GRCm39) |
|
probably benign |
Het |
| Kcnd2 |
A |
G |
6: 21,216,395 (GRCm39) |
Q33R |
probably benign |
Het |
| Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
| Klhl30 |
A |
T |
1: 91,288,753 (GRCm39) |
H504L |
probably damaging |
Het |
| Map4 |
A |
G |
9: 109,881,439 (GRCm39) |
Y101C |
possibly damaging |
Het |
| Mfn2 |
C |
A |
4: 147,961,492 (GRCm39) |
R707L |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,911,438 (GRCm39) |
N1511D |
probably benign |
Het |
| Neb |
A |
T |
2: 52,176,167 (GRCm39) |
Y1431N |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,203,774 (GRCm39) |
T625A |
probably damaging |
Het |
| Or5g27 |
G |
T |
2: 85,409,964 (GRCm39) |
C127F |
probably damaging |
Het |
| Pax2 |
A |
G |
19: 44,824,402 (GRCm39) |
Y374C |
unknown |
Het |
| Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,604,943 (GRCm39) |
L1124Q |
possibly damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,754,681 (GRCm39) |
F189L |
probably damaging |
Het |
| Prex2 |
G |
A |
1: 11,254,769 (GRCm39) |
|
probably null |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Slc22a22 |
T |
A |
15: 57,126,781 (GRCm39) |
Q77L |
probably damaging |
Het |
| Slc24a2 |
A |
T |
4: 87,145,634 (GRCm39) |
V140D |
probably damaging |
Het |
| Slc35g2 |
C |
A |
9: 100,435,287 (GRCm39) |
R128L |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
| Spag7 |
T |
C |
11: 70,555,816 (GRCm39) |
I80M |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,758,015 (GRCm39) |
M164T |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,452,468 (GRCm39) |
|
probably null |
Het |
| Tcte2 |
T |
C |
17: 13,942,864 (GRCm39) |
|
probably benign |
Het |
| Tmem117 |
A |
T |
15: 94,992,677 (GRCm39) |
M446L |
probably benign |
Het |
| Tmtc4 |
T |
C |
14: 123,200,710 (GRCm39) |
T194A |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,016,562 (GRCm39) |
Y1269C |
probably damaging |
Het |
| Zfp236 |
A |
T |
18: 82,638,531 (GRCm39) |
I1363N |
probably damaging |
Het |
| Zfp760 |
T |
A |
17: 21,942,648 (GRCm39) |
S608T |
probably benign |
Het |
| Zfp947 |
G |
T |
17: 22,365,124 (GRCm39) |
Y183* |
probably null |
Het |
|
| Other mutations in Grk4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Grk4
|
APN |
5 |
34,873,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00574:Grk4
|
APN |
5 |
34,852,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02127:Grk4
|
APN |
5 |
34,867,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02191:Grk4
|
APN |
5 |
34,912,533 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02227:Grk4
|
APN |
5 |
34,852,126 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03152:Grk4
|
APN |
5 |
34,902,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03214:Grk4
|
APN |
5 |
34,909,553 (GRCm39) |
missense |
probably benign |
|
|
F5426:Grk4
|
UTSW |
5 |
34,902,503 (GRCm39) |
splice site |
probably benign |
|
|
R0110:Grk4
|
UTSW |
5 |
34,873,557 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0469:Grk4
|
UTSW |
5 |
34,873,557 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0671:Grk4
|
UTSW |
5 |
34,905,611 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1466:Grk4
|
UTSW |
5 |
34,852,094 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1466:Grk4
|
UTSW |
5 |
34,852,094 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1584:Grk4
|
UTSW |
5 |
34,852,094 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1605:Grk4
|
UTSW |
5 |
34,831,901 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1607:Grk4
|
UTSW |
5 |
34,888,882 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1903:Grk4
|
UTSW |
5 |
34,833,531 (GRCm39) |
splice site |
probably null |
|
|
R2352:Grk4
|
UTSW |
5 |
34,826,520 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4580:Grk4
|
UTSW |
5 |
34,818,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4807:Grk4
|
UTSW |
5 |
34,909,552 (GRCm39) |
missense |
probably benign |
|
|
R5412:Grk4
|
UTSW |
5 |
34,902,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5905:Grk4
|
UTSW |
5 |
34,869,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6360:Grk4
|
UTSW |
5 |
34,831,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6604:Grk4
|
UTSW |
5 |
34,877,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6865:Grk4
|
UTSW |
5 |
34,888,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7265:Grk4
|
UTSW |
5 |
34,873,608 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7394:Grk4
|
UTSW |
5 |
34,908,962 (GRCm39) |
missense |
probably benign |
|
|
R7718:Grk4
|
UTSW |
5 |
34,852,160 (GRCm39) |
missense |
probably benign |
|
|
R7821:Grk4
|
UTSW |
5 |
34,867,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8074:Grk4
|
UTSW |
5 |
34,833,482 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8218:Grk4
|
UTSW |
5 |
34,826,540 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8499:Grk4
|
UTSW |
5 |
34,902,690 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9026:Grk4
|
UTSW |
5 |
34,877,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Grk4
|
UTSW |
5 |
34,905,653 (GRCm39) |
missense |
|
|
|
X0064:Grk4
|
UTSW |
5 |
34,877,228 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTACTGGGTGATACTTTGACT -3'
(R):5'- TCTTTTGTCTTGGCGGTTACCA -3'
Sequencing Primer
(F):5'- AGAGTAGGCATTAGGTTCTTTG -3'
(R):5'- TACCATCCTAGAGCCTTAGAAGTAGG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation