Incidental Mutation 'R3818:Gpr21'
ID |
274766 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr21
|
Ensembl Gene |
ENSMUSG00000053164 |
Gene Name |
G protein-coupled receptor 21 |
Synonyms |
C230004C13Rik |
MMRRC Submission |
040772-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.136)
|
Stock # |
R3818 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
37406638-37409293 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 37408324 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 290
(T290N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061179]
[ENSMUST00000065441]
[ENSMUST00000066055]
[ENSMUST00000112920]
[ENSMUST00000183690]
|
AlphaFold |
Q8BX79 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061179
|
SMART Domains |
Protein: ENSMUSP00000061624 Gene: ENSMUSG00000035437
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
PTB
|
138 |
271 |
2.99e-30 |
SMART |
Pfam:DUF3694
|
301 |
433 |
1.1e-38 |
PFAM |
low complexity region
|
449 |
460 |
N/A |
INTRINSIC |
low complexity region
|
473 |
481 |
N/A |
INTRINSIC |
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
TBC
|
558 |
770 |
9.27e-74 |
SMART |
Blast:TBC
|
803 |
880 |
9e-33 |
BLAST |
coiled coil region
|
986 |
1038 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065441
AA Change: T290N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066449 Gene: ENSMUSG00000053164 AA Change: T290N
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
34 |
239 |
4.8e-7 |
PFAM |
Pfam:7tm_4
|
34 |
307 |
3.3e-9 |
PFAM |
Pfam:7tm_1
|
45 |
304 |
9.4e-39 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000066055
|
SMART Domains |
Protein: ENSMUSP00000068835 Gene: ENSMUSG00000035437
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
PTB
|
138 |
271 |
2.99e-30 |
SMART |
Pfam:DUF3694
|
301 |
433 |
7.1e-39 |
PFAM |
low complexity region
|
449 |
460 |
N/A |
INTRINSIC |
low complexity region
|
473 |
481 |
N/A |
INTRINSIC |
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
TBC
|
558 |
770 |
9.27e-74 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112920
|
SMART Domains |
Protein: ENSMUSP00000108542 Gene: ENSMUSG00000035437
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
PTB
|
138 |
271 |
2.99e-30 |
SMART |
Pfam:DUF3694
|
301 |
432 |
1.6e-35 |
PFAM |
low complexity region
|
449 |
460 |
N/A |
INTRINSIC |
low complexity region
|
473 |
481 |
N/A |
INTRINSIC |
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
TBC
|
558 |
770 |
9.27e-74 |
SMART |
Blast:TBC
|
803 |
880 |
9e-33 |
BLAST |
coiled coil region
|
986 |
1038 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159092
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159737
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183690
|
SMART Domains |
Protein: ENSMUSP00000139145 Gene: ENSMUSG00000026915
Domain | Start | End | E-Value | Type |
DZF
|
81 |
334 |
2.45e-168 |
SMART |
DSRM
|
388 |
452 |
3.11e-16 |
SMART |
low complexity region
|
474 |
497 |
N/A |
INTRINSIC |
DSRM
|
511 |
575 |
1.2e-22 |
SMART |
low complexity region
|
578 |
593 |
N/A |
INTRINSIC |
low complexity region
|
608 |
618 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.4971 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.4%
|
Validation Efficiency |
100% (34/34) |
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 G-protein-coupled receptor 1 family. G-protein coupled receptors are membrane proteins which activate signaling cascades as a response to extracellular stress. The encoded protein activates a Gq signal transduction pathway which mobilizes calcium. [provided by RefSeq, Nov 2012] PHENOTYPE: Mice homozygous for a targeted allele exhibit improved glucose tolerance, insulin response and resistance to diet-induced obesity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310011J03Rik |
T |
C |
10: 80,155,351 (GRCm39) |
D54G |
probably damaging |
Het |
Adra2b |
G |
T |
2: 127,205,755 (GRCm39) |
E86* |
probably null |
Het |
Cachd1 |
A |
T |
4: 100,848,062 (GRCm39) |
D1059V |
probably damaging |
Het |
Cd177 |
A |
G |
7: 24,453,817 (GRCm39) |
V358A |
probably benign |
Het |
Col25a1 |
A |
G |
3: 130,343,720 (GRCm39) |
K396R |
possibly damaging |
Het |
Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
Cyp4a30b |
G |
T |
4: 115,316,206 (GRCm39) |
A311S |
probably damaging |
Het |
Dse |
T |
C |
10: 34,029,429 (GRCm39) |
I554V |
probably benign |
Het |
Gabrg3 |
G |
A |
7: 57,031,412 (GRCm39) |
Q43* |
probably null |
Het |
Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
Gsdme |
A |
C |
6: 50,196,391 (GRCm39) |
S340A |
probably benign |
Het |
Hivep2 |
T |
C |
10: 14,019,685 (GRCm39) |
V2152A |
possibly damaging |
Het |
Mamdc4 |
C |
T |
2: 25,455,785 (GRCm39) |
S840N |
probably benign |
Het |
Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
Or8i2 |
G |
A |
2: 86,852,054 (GRCm39) |
T278I |
probably benign |
Het |
Pah |
A |
G |
10: 87,357,866 (GRCm39) |
|
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,284,917 (GRCm39) |
S794T |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,309,990 (GRCm39) |
H108R |
probably damaging |
Het |
Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
Prkd1 |
A |
T |
12: 50,466,667 (GRCm39) |
|
probably benign |
Het |
Pwp1 |
C |
T |
10: 85,723,993 (GRCm39) |
P498L |
possibly damaging |
Het |
Rasa4 |
A |
G |
5: 136,131,147 (GRCm39) |
T414A |
possibly damaging |
Het |
Rbm26 |
A |
T |
14: 105,378,706 (GRCm39) |
L594I |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
Sorcs3 |
A |
G |
19: 48,592,343 (GRCm39) |
N336S |
probably benign |
Het |
Sspo |
A |
T |
6: 48,458,037 (GRCm39) |
E3269V |
possibly damaging |
Het |
Tlr4 |
A |
G |
4: 66,759,553 (GRCm39) |
E782G |
probably benign |
Het |
Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ttl |
T |
C |
2: 128,934,914 (GRCm39) |
V358A |
probably damaging |
Het |
Wdhd1 |
A |
G |
14: 47,481,258 (GRCm39) |
|
probably null |
Het |
Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
Het |
Zfp939 |
T |
C |
7: 39,122,792 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Gpr21 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01510:Gpr21
|
APN |
2 |
37,408,433 (GRCm39) |
nonsense |
probably null |
|
IGL01877:Gpr21
|
APN |
2 |
37,408,093 (GRCm39) |
missense |
probably benign |
0.13 |
IGL03265:Gpr21
|
APN |
2 |
37,408,086 (GRCm39) |
missense |
probably damaging |
1.00 |
lasco
|
UTSW |
2 |
37,407,556 (GRCm39) |
missense |
probably damaging |
0.99 |
R0573:Gpr21
|
UTSW |
2 |
37,407,556 (GRCm39) |
missense |
probably damaging |
0.99 |
R1548:Gpr21
|
UTSW |
2 |
37,408,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R1781:Gpr21
|
UTSW |
2 |
37,407,550 (GRCm39) |
missense |
probably benign |
0.00 |
R1922:Gpr21
|
UTSW |
2 |
37,408,350 (GRCm39) |
missense |
probably damaging |
0.99 |
R2011:Gpr21
|
UTSW |
2 |
37,407,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R2144:Gpr21
|
UTSW |
2 |
37,408,243 (GRCm39) |
missense |
probably benign |
0.02 |
R3978:Gpr21
|
UTSW |
2 |
37,407,862 (GRCm39) |
missense |
probably benign |
0.23 |
R4412:Gpr21
|
UTSW |
2 |
37,407,444 (GRCm39) |
intron |
probably benign |
|
R4466:Gpr21
|
UTSW |
2 |
37,407,570 (GRCm39) |
missense |
probably benign |
0.10 |
R6807:Gpr21
|
UTSW |
2 |
37,407,974 (GRCm39) |
nonsense |
probably null |
|
R9477:Gpr21
|
UTSW |
2 |
37,408,386 (GRCm39) |
missense |
probably damaging |
0.98 |
R9612:Gpr21
|
UTSW |
2 |
37,408,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CCGATTCAGCAGCCAGAATG -3'
(R):5'- TCTCCTTGAAAATAGAGCGACTG -3'
Sequencing Primer
(F):5'- TTCAGCAGCCAGAATGGGGAG -3'
(R):5'- CCCTCAGATATGAGATCCATTAGGG -3'
|
Posted On |
2015-04-02 |