Incidental Mutation 'IGL03265:Gpr21'
| ID |
415042 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpr21
|
| Ensembl Gene |
ENSMUSG00000053164 |
| Gene Name |
G protein-coupled receptor 21 |
| Synonyms |
C230004C13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
IGL03265
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
37406638-37409293 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37408086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 211
(Y211H)
|
| 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: Y211H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066449
Gene: ENSMUSG00000053164
AA Change: Y211H
| 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 |
|
| Coding Region Coverage |
|
| 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 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
C |
A |
11: 109,943,929 (GRCm39) |
M1113I |
probably benign |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Akr1a1 |
A |
G |
4: 116,495,014 (GRCm39) |
M286T |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,469,117 (GRCm39) |
S1575G |
probably damaging |
Het |
| Apba2 |
A |
G |
7: 64,345,071 (GRCm39) |
D87G |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,854,439 (GRCm39) |
F1641S |
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,074,628 (GRCm39) |
H1062Q |
probably benign |
Het |
| Bivm |
A |
G |
1: 44,181,005 (GRCm39) |
R396G |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,102,140 (GRCm39) |
D4777E |
probably benign |
Het |
| Bmi1 |
T |
A |
2: 18,686,672 (GRCm39) |
M17K |
possibly damaging |
Het |
| Bptf |
T |
C |
11: 106,945,454 (GRCm39) |
N2480S |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,674,243 (GRCm39) |
E944G |
probably damaging |
Het |
| Ces2a |
C |
T |
8: 105,464,075 (GRCm39) |
H236Y |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,568,007 (GRCm39) |
D1863G |
probably benign |
Het |
| Dnajc17 |
C |
A |
2: 119,016,199 (GRCm39) |
E91D |
probably benign |
Het |
| Dus2 |
C |
A |
8: 106,760,423 (GRCm39) |
|
probably benign |
Het |
| Epha6 |
T |
C |
16: 59,880,594 (GRCm39) |
|
probably benign |
Het |
| Erap1 |
A |
T |
13: 74,812,246 (GRCm39) |
T354S |
probably damaging |
Het |
| Fbxo11 |
T |
C |
17: 88,300,259 (GRCm39) |
H851R |
probably damaging |
Het |
| Gm20532 |
G |
A |
2: 26,522,696 (GRCm39) |
C90Y |
unknown |
Het |
| Hectd4 |
A |
G |
5: 121,398,002 (GRCm39) |
|
probably benign |
Het |
| Hephl1 |
G |
A |
9: 14,972,255 (GRCm39) |
T895I |
probably benign |
Het |
| Hey1 |
T |
C |
3: 8,729,974 (GRCm39) |
Y161C |
probably benign |
Het |
| Kdr |
A |
G |
5: 76,121,433 (GRCm39) |
Y526H |
probably damaging |
Het |
| Lpp |
A |
G |
16: 24,580,737 (GRCm39) |
Y151C |
probably damaging |
Het |
| Macc1 |
A |
G |
12: 119,410,711 (GRCm39) |
N493S |
probably benign |
Het |
| Or2t45 |
T |
C |
11: 58,669,697 (GRCm39) |
V248A |
probably damaging |
Het |
| Or52s6 |
C |
A |
7: 103,091,655 (GRCm39) |
R225L |
probably benign |
Het |
| Or5m10b |
T |
A |
2: 85,699,494 (GRCm39) |
M186K |
possibly damaging |
Het |
| Or5t16 |
T |
A |
2: 86,819,424 (GRCm39) |
Y32F |
probably damaging |
Het |
| Or6c1b |
A |
T |
10: 129,272,794 (GRCm39) |
T38S |
possibly damaging |
Het |
| Pcdhb21 |
A |
G |
18: 37,648,206 (GRCm39) |
D445G |
probably damaging |
Het |
| Prkra |
T |
C |
2: 76,470,614 (GRCm39) |
N123D |
probably benign |
Het |
| Slc25a33 |
A |
C |
4: 149,846,893 (GRCm39) |
L56R |
probably damaging |
Het |
| Usp36 |
A |
G |
11: 118,155,635 (GRCm39) |
V714A |
possibly damaging |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,898 (GRCm39) |
L188* |
probably null |
Het |
| Vmn2r12 |
A |
G |
5: 109,239,936 (GRCm39) |
V209A |
probably benign |
Het |
| Zfp809 |
A |
G |
9: 22,154,339 (GRCm39) |
Y352C |
probably benign |
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 |
|
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 |
|
R3818:Gpr21
|
UTSW |
2 |
37,408,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation