Incidental Mutation 'IGL00264:Ghsr'
| ID |
6923 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ghsr
|
| Ensembl Gene |
ENSMUSG00000051136 |
| Gene Name |
growth hormone secretagogue receptor |
| Synonyms |
C530020I22Rik, Ghsr1a |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00264
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
27425500-27432159 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27429022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 349
(L349Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057186]
|
| AlphaFold |
Q99P50 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057186
AA Change: L349Q
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000061153
Gene: ENSMUSG00000051136
AA Change: L349Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
43 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srw
|
47 |
339 |
5.8e-12 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
53 |
336 |
9.4e-8 |
PFAM |
|
Pfam:7tm_1
|
59 |
321 |
7.9e-51 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
61 |
338 |
4.8e-9 |
PFAM |
|
| 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 family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]
PHENOTYPE: Homeostasis is disrupted by inactivation of this gene, namely growth hormone release and appetite stimulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
T |
G |
1: 125,324,966 (GRCm39) |
I319L |
probably benign |
Het |
| Akap7 |
C |
T |
10: 25,047,138 (GRCm39) |
D20N |
probably benign |
Het |
| Ambra1 |
T |
A |
2: 91,741,934 (GRCm39) |
S1070T |
probably benign |
Het |
| Arhgef9 |
T |
C |
X: 94,125,237 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
G |
10: 50,590,531 (GRCm39) |
V1083G |
probably damaging |
Het |
| Asns |
T |
A |
6: 7,680,179 (GRCm39) |
E312D |
probably damaging |
Het |
| Bpifc |
A |
C |
10: 85,796,392 (GRCm39) |
V472G |
possibly damaging |
Het |
| Ccdc71 |
T |
A |
9: 108,340,237 (GRCm39) |
S17T |
probably damaging |
Het |
| Cebpzos |
T |
C |
17: 79,225,777 (GRCm39) |
|
probably benign |
Het |
| Cfi |
T |
C |
3: 129,666,744 (GRCm39) |
I489T |
probably damaging |
Het |
| Chrm2 |
T |
A |
6: 36,500,326 (GRCm39) |
F61Y |
probably damaging |
Het |
| Cpxm1 |
T |
C |
2: 130,237,863 (GRCm39) |
Y149C |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,172,720 (GRCm39) |
I246T |
probably benign |
Het |
| Ereg |
C |
A |
5: 91,222,638 (GRCm39) |
S7Y |
probably benign |
Het |
| Gm10754 |
A |
G |
10: 97,518,274 (GRCm39) |
|
probably benign |
Het |
| Gm8237 |
A |
T |
14: 5,864,475 (GRCm38) |
L29H |
probably benign |
Het |
| Hexim2 |
A |
G |
11: 103,029,281 (GRCm39) |
E111G |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,128,899 (GRCm39) |
N586K |
possibly damaging |
Het |
| Kat6b |
A |
G |
14: 21,718,627 (GRCm39) |
D1102G |
probably benign |
Het |
| Kif27 |
A |
T |
13: 58,485,418 (GRCm39) |
M514K |
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,428,616 (GRCm39) |
I660T |
probably damaging |
Het |
| Mki67 |
C |
A |
7: 135,309,549 (GRCm39) |
G301* |
probably null |
Het |
| Or13a25 |
T |
A |
7: 140,247,854 (GRCm39) |
I211N |
probably benign |
Het |
| Or1l4b |
T |
C |
2: 37,037,079 (GRCm39) |
F285S |
probably damaging |
Het |
| Or5b121 |
A |
C |
19: 13,507,214 (GRCm39) |
Y103S |
probably damaging |
Het |
| Or5b99 |
A |
G |
19: 12,976,683 (GRCm39) |
Y111C |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,488,526 (GRCm39) |
H68L |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,354,425 (GRCm39) |
V272A |
possibly damaging |
Het |
| Pstpip2 |
T |
C |
18: 77,959,259 (GRCm39) |
|
probably benign |
Het |
| Rdh14 |
G |
T |
12: 10,441,134 (GRCm39) |
G99W |
probably damaging |
Het |
| Rmc1 |
T |
C |
18: 12,312,276 (GRCm39) |
V172A |
probably benign |
Het |
| Sra1 |
A |
T |
18: 36,801,792 (GRCm39) |
S99R |
probably benign |
Het |
| Tbrg1 |
G |
T |
9: 37,562,337 (GRCm39) |
N280K |
probably benign |
Het |
| Ugt8a |
A |
G |
3: 125,708,285 (GRCm39) |
|
probably null |
Het |
| Usp40 |
A |
T |
1: 87,931,960 (GRCm39) |
|
probably benign |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,646 (GRCm39) |
Y108F |
probably damaging |
Het |
| Zfp521 |
A |
G |
18: 13,979,559 (GRCm39) |
Y285H |
probably benign |
Het |
|
| Other mutations in Ghsr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Ghsr
|
APN |
3 |
27,426,532 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01376:Ghsr
|
APN |
3 |
27,425,977 (GRCm39) |
missense |
probably benign |
|
|
IGL02444:Ghsr
|
APN |
3 |
27,426,189 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02650:Ghsr
|
APN |
3 |
27,429,004 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02754:Ghsr
|
APN |
3 |
27,426,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0571:Ghsr
|
UTSW |
3 |
27,426,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0825:Ghsr
|
UTSW |
3 |
27,428,776 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1036:Ghsr
|
UTSW |
3 |
27,428,869 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1462:Ghsr
|
UTSW |
3 |
27,426,025 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1462:Ghsr
|
UTSW |
3 |
27,426,025 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1529:Ghsr
|
UTSW |
3 |
27,426,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1598:Ghsr
|
UTSW |
3 |
27,426,426 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4846:Ghsr
|
UTSW |
3 |
27,425,986 (GRCm39) |
missense |
probably benign |
|
|
R4951:Ghsr
|
UTSW |
3 |
27,426,510 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4993:Ghsr
|
UTSW |
3 |
27,426,403 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5055:Ghsr
|
UTSW |
3 |
27,426,421 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6843:Ghsr
|
UTSW |
3 |
27,426,676 (GRCm39) |
missense |
probably benign |
|
|
R6936:Ghsr
|
UTSW |
3 |
27,426,474 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7068:Ghsr
|
UTSW |
3 |
27,425,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7318:Ghsr
|
UTSW |
3 |
27,426,616 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7510:Ghsr
|
UTSW |
3 |
27,426,523 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7889:Ghsr
|
UTSW |
3 |
27,426,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9514:Ghsr
|
UTSW |
3 |
27,426,630 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9571:Ghsr
|
UTSW |
3 |
27,426,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9741:Ghsr
|
UTSW |
3 |
27,428,898 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2012-04-20 |
Incidental Mutation