Incidental Mutation 'IGL01877:Gpr21'
| ID |
178914 |
| 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: 0.136)
|
| Stock # |
IGL01877
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
37406638-37409293 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 37408093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 213
(N213T)
|
| 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 benign
Transcript: ENSMUST00000065441
AA Change: N213T
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000066449
Gene: ENSMUSG00000053164
AA Change: N213T
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
A |
G |
8: 41,248,982 (GRCm39) |
E364G |
probably benign |
Het |
| Aknad1 |
C |
T |
3: 108,682,406 (GRCm39) |
P523S |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,599,393 (GRCm39) |
N1875K |
possibly damaging |
Het |
| Ano4 |
A |
T |
10: 88,860,932 (GRCm39) |
Y179* |
probably null |
Het |
| Cacna1h |
A |
T |
17: 25,607,024 (GRCm39) |
F965I |
probably damaging |
Het |
| Cfh |
T |
A |
1: 140,028,567 (GRCm39) |
I1043F |
probably damaging |
Het |
| Galnt12 |
T |
A |
4: 47,112,315 (GRCm39) |
|
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hexa |
T |
C |
9: 59,471,163 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
T |
C |
6: 145,093,525 (GRCm39) |
S94P |
probably damaging |
Het |
| Itga6 |
T |
C |
2: 71,668,624 (GRCm39) |
I521T |
probably benign |
Het |
| Jmjd6 |
G |
T |
11: 116,733,519 (GRCm39) |
Q53K |
probably benign |
Het |
| Mylk3 |
T |
C |
8: 86,085,671 (GRCm39) |
T225A |
possibly damaging |
Het |
| Pcgf2 |
A |
G |
11: 97,583,359 (GRCm39) |
V79A |
probably damaging |
Het |
| Setd1b |
T |
C |
5: 123,286,511 (GRCm39) |
M519T |
unknown |
Het |
| Slco1c1 |
T |
C |
6: 141,500,879 (GRCm39) |
S454P |
probably damaging |
Het |
| Tubb1 |
C |
A |
2: 174,298,691 (GRCm39) |
S124R |
possibly damaging |
Het |
| Umodl1 |
A |
G |
17: 31,201,294 (GRCm39) |
I408V |
probably benign |
Het |
| Unc13b |
T |
C |
4: 43,249,583 (GRCm39) |
|
probably null |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r80 |
A |
G |
10: 79,007,334 (GRCm39) |
|
probably null |
Het |
| Yipf4 |
T |
G |
17: 74,799,383 (GRCm39) |
L41R |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,334,218 (GRCm39) |
S267P |
probably damaging |
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 |
|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation