Incidental Mutation 'IGL01366:Ghr'
| ID |
75944 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ghr
|
| Ensembl Gene |
ENSMUSG00000055737 |
| Gene Name |
growth hormone receptor |
| Synonyms |
GHR/BP, GHBP |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01366
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
3347237-3612834 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3349669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 503
(D503G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069451]
[ENSMUST00000161561]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069451
AA Change: D503G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069457
Gene: ENSMUSG00000055737
AA Change: D503G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EpoR_lig-bind
|
43 |
152 |
3.6e-12 |
PFAM |
|
FN3
|
159 |
249 |
3.99e0 |
SMART |
|
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
Pfam:GHBP
|
325 |
636 |
2.1e-110 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161561
AA Change: D503G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124064
Gene: ENSMUSG00000055737
AA Change: D503G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EpoR_lig-bind
|
43 |
152 |
3.6e-12 |
PFAM |
|
FN3
|
159 |
249 |
3.99e0 |
SMART |
|
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
Pfam:GHBP
|
325 |
628 |
1.8e-132 |
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 type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit retarded postnatal growth, proportionate dwarfism, decreased plasma insulin-like growth factor I levels, small pituitaries, reduced fecundity in females, and extended life-span. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
A |
T |
4: 73,868,937 (GRCm39) |
|
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,687,295 (GRCm39) |
Y1041H |
probably damaging |
Het |
| Adck5 |
A |
C |
15: 76,479,816 (GRCm39) |
*568C |
probably null |
Het |
| AK157302 |
T |
A |
13: 21,679,471 (GRCm39) |
|
probably benign |
Het |
| Bmpr2 |
G |
T |
1: 59,852,836 (GRCm39) |
G56W |
probably damaging |
Het |
| Capn11 |
A |
C |
17: 45,964,126 (GRCm39) |
I146S |
probably damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,456,302 (GRCm39) |
D1613E |
possibly damaging |
Het |
| Ccdc167 |
T |
C |
17: 29,924,286 (GRCm39) |
E50G |
probably damaging |
Het |
| Col5a2 |
G |
T |
1: 45,431,048 (GRCm39) |
P864Q |
possibly damaging |
Het |
| Col7a1 |
C |
T |
9: 108,806,187 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
T |
A |
16: 3,944,370 (GRCm39) |
H556L |
probably damaging |
Het |
| Dcpp1 |
T |
A |
17: 24,101,710 (GRCm39) |
I153N |
possibly damaging |
Het |
| Dgke |
C |
T |
11: 88,946,212 (GRCm39) |
R196H |
probably benign |
Het |
| Efr3a |
T |
A |
15: 65,722,999 (GRCm39) |
I459K |
probably benign |
Het |
| Espl1 |
T |
A |
15: 102,228,271 (GRCm39) |
C1682S |
probably benign |
Het |
| Exosc3 |
C |
T |
4: 45,317,747 (GRCm39) |
R185H |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,879,338 (GRCm39) |
V64A |
possibly damaging |
Het |
| Fhip2b |
G |
A |
14: 70,822,813 (GRCm39) |
R688C |
probably damaging |
Het |
| Gata3 |
A |
G |
2: 9,882,276 (GRCm39) |
L42P |
probably damaging |
Het |
| Ggta1 |
C |
A |
2: 35,292,462 (GRCm39) |
E282* |
probably null |
Het |
| Gls |
C |
T |
1: 52,207,558 (GRCm39) |
G602D |
probably damaging |
Het |
| Gm2058 |
A |
G |
7: 39,238,658 (GRCm39) |
|
noncoding transcript |
Het |
| Grb7 |
T |
C |
11: 98,343,100 (GRCm39) |
|
probably benign |
Het |
| Ifngr1 |
A |
T |
10: 19,485,348 (GRCm39) |
H449L |
probably damaging |
Het |
| Ighg2b |
T |
G |
12: 113,270,656 (GRCm39) |
D158A |
possibly damaging |
Het |
| Nphs2 |
T |
C |
1: 156,138,605 (GRCm39) |
V83A |
probably benign |
Het |
| Parp6 |
T |
A |
9: 59,543,996 (GRCm39) |
M390K |
possibly damaging |
Het |
| Pask |
T |
C |
1: 93,238,574 (GRCm39) |
K1304E |
probably benign |
Het |
| Scai |
A |
G |
2: 38,996,973 (GRCm39) |
S274P |
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,818,763 (GRCm39) |
S404P |
probably damaging |
Het |
| Slc7a8 |
A |
T |
14: 55,018,645 (GRCm39) |
I47N |
probably damaging |
Het |
| Tas2r113 |
A |
T |
6: 132,870,760 (GRCm39) |
I263F |
probably benign |
Het |
| Tdrd1 |
T |
A |
19: 56,843,734 (GRCm39) |
D737E |
probably benign |
Het |
| Trio |
T |
C |
15: 27,732,954 (GRCm39) |
T2976A |
possibly damaging |
Het |
| Ttc28 |
T |
C |
5: 111,233,037 (GRCm39) |
|
probably null |
Het |
| Vmn1r21 |
A |
G |
6: 57,820,799 (GRCm39) |
I215T |
probably benign |
Het |
|
| Other mutations in Ghr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Ghr
|
APN |
15 |
3,357,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01446:Ghr
|
APN |
15 |
3,362,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01730:Ghr
|
APN |
15 |
3,350,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01908:Ghr
|
APN |
15 |
3,349,929 (GRCm39) |
nonsense |
probably null |
|
|
IGL02396:Ghr
|
APN |
15 |
3,487,480 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
IGL02476:Ghr
|
APN |
15 |
3,349,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02863:Ghr
|
APN |
15 |
3,357,584 (GRCm39) |
nonsense |
probably null |
|
|
IGL03338:Ghr
|
APN |
15 |
3,377,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Elfin
|
UTSW |
15 |
3,370,409 (GRCm39) |
missense |
probably damaging |
0.98 |
|
garden
|
UTSW |
15 |
3,377,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
gnome
|
UTSW |
15 |
3,418,128 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0334:Ghr
|
UTSW |
15 |
3,370,580 (GRCm39) |
splice site |
probably benign |
|
|
R0387:Ghr
|
UTSW |
15 |
3,349,373 (GRCm39) |
missense |
probably benign |
|
|
R0581:Ghr
|
UTSW |
15 |
3,418,116 (GRCm39) |
splice site |
probably benign |
|
|
R1185:Ghr
|
UTSW |
15 |
3,357,544 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1185:Ghr
|
UTSW |
15 |
3,357,544 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1185:Ghr
|
UTSW |
15 |
3,357,544 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1216:Ghr
|
UTSW |
15 |
3,349,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1294:Ghr
|
UTSW |
15 |
3,418,128 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1607:Ghr
|
UTSW |
15 |
3,350,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1743:Ghr
|
UTSW |
15 |
3,349,723 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2006:Ghr
|
UTSW |
15 |
3,357,464 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2197:Ghr
|
UTSW |
15 |
3,362,956 (GRCm39) |
nonsense |
probably null |
|
|
R2274:Ghr
|
UTSW |
15 |
3,349,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2332:Ghr
|
UTSW |
15 |
3,349,891 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4283:Ghr
|
UTSW |
15 |
3,362,930 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4519:Ghr
|
UTSW |
15 |
3,362,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4521:Ghr
|
UTSW |
15 |
3,355,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4714:Ghr
|
UTSW |
15 |
3,349,879 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4717:Ghr
|
UTSW |
15 |
3,349,235 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4724:Ghr
|
UTSW |
15 |
3,355,422 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5087:Ghr
|
UTSW |
15 |
3,349,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5269:Ghr
|
UTSW |
15 |
3,349,561 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5429:Ghr
|
UTSW |
15 |
3,418,157 (GRCm39) |
nonsense |
probably null |
|
|
R6012:Ghr
|
UTSW |
15 |
3,370,409 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6135:Ghr
|
UTSW |
15 |
3,355,447 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6588:Ghr
|
UTSW |
15 |
3,349,750 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7069:Ghr
|
UTSW |
15 |
3,349,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7074:Ghr
|
UTSW |
15 |
3,362,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7408:Ghr
|
UTSW |
15 |
3,377,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7540:Ghr
|
UTSW |
15 |
3,349,396 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7575:Ghr
|
UTSW |
15 |
3,349,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7822:Ghr
|
UTSW |
15 |
3,487,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7922:Ghr
|
UTSW |
15 |
3,370,556 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8221:Ghr
|
UTSW |
15 |
3,362,901 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9041:Ghr
|
UTSW |
15 |
3,357,530 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9074:Ghr
|
UTSW |
15 |
3,370,470 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9467:Ghr
|
UTSW |
15 |
3,357,506 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9579:Ghr
|
UTSW |
15 |
3,349,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9605:Ghr
|
UTSW |
15 |
3,362,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9642:Ghr
|
UTSW |
15 |
3,355,469 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0017:Ghr
|
UTSW |
15 |
3,350,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Ghr
|
UTSW |
15 |
3,349,694 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1176:Ghr
|
UTSW |
15 |
3,376,967 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2013-10-07 |
Incidental Mutation