Incidental Mutation 'R2352:Grk4'
ID |
246189 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grk4
|
Ensembl Gene |
ENSMUSG00000052783 |
Gene Name |
G protein-coupled receptor kinase 4 |
Synonyms |
Gprk2l, A830025H08Rik |
MMRRC Submission |
040334-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.148)
|
Stock # |
R2352 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
34817723-34912649 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34826520 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 40
(M40T)
|
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: M40T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000001112 Gene: ENSMUSG00000052783 AA Change: M40T
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: M40T
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000074223 Gene: ENSMUSG00000052783 AA Change: M40T
Domain | Start | End | E-Value | Type |
RGS
|
51 |
163 |
1.39e-12 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000148588
AA Change: M32T
|
SMART Domains |
Protein: ENSMUSP00000122826 Gene: ENSMUSG00000052783 AA Change: M32T
Domain | Start | End | E-Value | Type |
PDB:3NYO|B
|
2 |
80 |
2e-27 |
PDB |
SCOP:d1dk8a_
|
32 |
79 |
3e-5 |
SMART |
Blast:RGS
|
44 |
81 |
3e-18 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd28 |
C |
T |
14: 31,432,904 (GRCm39) |
V548I |
probably benign |
Het |
Aspm |
T |
C |
1: 139,385,300 (GRCm39) |
S315P |
probably benign |
Het |
Caln1 |
G |
T |
5: 130,534,993 (GRCm39) |
E70* |
probably null |
Het |
Cd69 |
A |
T |
6: 129,246,567 (GRCm39) |
W114R |
probably damaging |
Het |
Cnbd2 |
T |
C |
2: 156,177,275 (GRCm39) |
Y90H |
probably damaging |
Het |
Crebrf |
C |
T |
17: 26,961,320 (GRCm39) |
S147F |
probably damaging |
Het |
Cts7 |
A |
T |
13: 61,500,586 (GRCm39) |
C320* |
probably null |
Het |
Dgat1 |
T |
C |
15: 76,386,513 (GRCm39) |
I474V |
possibly damaging |
Het |
Dmxl2 |
T |
A |
9: 54,301,146 (GRCm39) |
I2322F |
probably damaging |
Het |
Dnah11 |
A |
T |
12: 117,892,065 (GRCm39) |
F3703I |
probably damaging |
Het |
Foxb2 |
A |
G |
19: 16,850,433 (GRCm39) |
L191P |
unknown |
Het |
Gli3 |
A |
T |
13: 15,836,977 (GRCm39) |
E453D |
probably benign |
Het |
Gnl3 |
C |
T |
14: 30,738,783 (GRCm39) |
|
probably null |
Het |
Golgb1 |
A |
T |
16: 36,718,921 (GRCm39) |
T276S |
probably damaging |
Het |
Hoxb1 |
A |
G |
11: 96,257,203 (GRCm39) |
N184S |
possibly damaging |
Het |
Insr |
G |
T |
8: 3,242,593 (GRCm39) |
T42N |
probably damaging |
Het |
Iqgap3 |
A |
G |
3: 88,011,815 (GRCm39) |
K836E |
possibly damaging |
Het |
Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
Leng9 |
T |
A |
7: 4,152,409 (GRCm39) |
E89V |
probably damaging |
Het |
Lhcgr |
C |
T |
17: 89,049,727 (GRCm39) |
V600I |
possibly damaging |
Het |
Lima1 |
T |
C |
15: 99,692,396 (GRCm39) |
N183S |
probably benign |
Het |
Lmtk2 |
A |
G |
5: 144,110,729 (GRCm39) |
D483G |
probably benign |
Het |
Lpcat2b |
T |
G |
5: 107,581,307 (GRCm39) |
L212R |
probably damaging |
Het |
Lrrc61 |
A |
T |
6: 48,545,806 (GRCm39) |
I210F |
probably benign |
Het |
Lypd8l |
A |
T |
11: 58,503,676 (GRCm39) |
L10H |
probably damaging |
Het |
Lypd8l |
G |
A |
11: 58,502,934 (GRCm39) |
Q72* |
probably null |
Het |
Med12l |
C |
T |
3: 59,148,113 (GRCm39) |
L977F |
probably damaging |
Het |
Mical1 |
A |
T |
10: 41,358,229 (GRCm39) |
D414V |
probably benign |
Het |
Mmp14 |
C |
T |
14: 54,678,002 (GRCm39) |
A541V |
probably benign |
Het |
Mtmr10 |
A |
G |
7: 63,947,328 (GRCm39) |
D81G |
possibly damaging |
Het |
Myh1 |
G |
A |
11: 67,111,363 (GRCm39) |
V1601M |
probably benign |
Het |
Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,177,348 (GRCm39) |
Y1331C |
probably damaging |
Het |
Otop2 |
T |
C |
11: 115,219,927 (GRCm39) |
S256P |
probably damaging |
Het |
Prl8a1 |
A |
G |
13: 27,759,572 (GRCm39) |
L155P |
probably damaging |
Het |
Rrp1b |
A |
T |
17: 32,278,302 (GRCm39) |
M658L |
possibly damaging |
Het |
Sema4b |
C |
A |
7: 79,870,627 (GRCm39) |
A525D |
probably damaging |
Het |
Slc13a5 |
T |
A |
11: 72,143,147 (GRCm39) |
I369F |
probably benign |
Het |
Slc22a18 |
T |
C |
7: 143,051,152 (GRCm39) |
S344P |
probably benign |
Het |
Slc25a4 |
A |
C |
8: 46,662,212 (GRCm39) |
S149A |
probably benign |
Het |
Smc2 |
A |
T |
4: 52,460,266 (GRCm39) |
E547D |
probably benign |
Het |
Stx8 |
A |
G |
11: 67,864,077 (GRCm39) |
T46A |
probably benign |
Het |
Tacr3 |
T |
C |
3: 134,560,631 (GRCm39) |
V190A |
probably benign |
Het |
Tdrkh |
A |
T |
3: 94,336,467 (GRCm39) |
K468M |
possibly damaging |
Het |
Tmem145 |
T |
C |
7: 25,005,598 (GRCm39) |
S4P |
probably benign |
Het |
Tmem74 |
A |
G |
15: 43,730,506 (GRCm39) |
I179T |
probably damaging |
Het |
Vmn1r222 |
A |
C |
13: 23,416,683 (GRCm39) |
W177G |
probably benign |
Het |
Zfp426 |
T |
C |
9: 20,381,401 (GRCm39) |
I529V |
probably benign |
Het |
Zfp462 |
A |
G |
4: 55,008,313 (GRCm39) |
Y93C |
probably null |
Het |
Zfyve26 |
G |
A |
12: 79,330,890 (GRCm39) |
T443I |
probably damaging |
Het |
Zkscan16 |
A |
C |
4: 58,951,869 (GRCm39) |
R181S |
possibly damaging |
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 |
|
R4561:Grk4
|
UTSW |
5 |
34,852,157 (GRCm39) |
missense |
probably benign |
0.00 |
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'- GCTGTATGACTGACCCTAACATGAAG -3'
(R):5'- ACTGCACTCTAGAGTCTCCATTACAC -3'
Sequencing Primer
(F):5'- GACTGACCCTAACATGAAGTTAATG -3'
(R):5'- TCTAGAGTCTCCATTACACACAAAAG -3'
|
Posted On |
2014-10-30 |