Incidental Mutation 'R1743:Ghr'
| ID |
200541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ghr
|
| Ensembl Gene |
ENSMUSG00000055737 |
| Gene Name |
growth hormone receptor |
| Synonyms |
GHR/BP, GHBP |
| MMRRC Submission |
039775-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1743 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
3347237-3612834 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3349723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 485
(P485L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069451]
[ENSMUST00000161561]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069451
AA Change: P485L
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000069457
Gene: ENSMUSG00000055737
AA Change: P485L
| 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 benign
Transcript: ENSMUST00000161561
AA Change: P485L
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000124064
Gene: ENSMUSG00000055737
AA Change: P485L
| 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 |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.7%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff4 |
T |
A |
11: 53,259,522 (GRCm39) |
M11K |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,722,324 (GRCm39) |
D88G |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,170,727 (GRCm39) |
E1169G |
probably benign |
Het |
| Atp7b |
A |
T |
8: 22,496,403 (GRCm39) |
V865E |
probably damaging |
Het |
| Bcl2l13 |
T |
A |
6: 120,825,504 (GRCm39) |
Y13* |
probably null |
Het |
| Birc6 |
A |
G |
17: 74,886,751 (GRCm39) |
Q693R |
possibly damaging |
Het |
| Bub1 |
T |
C |
2: 127,655,770 (GRCm39) |
D520G |
probably damaging |
Het |
| Ccdc15 |
A |
T |
9: 37,188,773 (GRCm39) |
Y770* |
probably null |
Het |
| Cenpf |
T |
C |
1: 189,386,460 (GRCm39) |
E1940G |
probably benign |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,233,825 (GRCm39) |
V421A |
probably benign |
Het |
| Cnnm1 |
A |
T |
19: 43,460,352 (GRCm39) |
Y698F |
possibly damaging |
Het |
| Cnst |
C |
T |
1: 179,437,957 (GRCm39) |
T507I |
probably benign |
Het |
| Coq8a |
T |
C |
1: 180,009,794 (GRCm39) |
M4V |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 48,485,485 (GRCm39) |
L140P |
probably damaging |
Het |
| Cul2 |
A |
T |
18: 3,426,851 (GRCm39) |
I431F |
probably damaging |
Het |
| Dnah8 |
G |
T |
17: 30,988,625 (GRCm39) |
E3198D |
probably benign |
Het |
| Dnai3 |
C |
A |
3: 145,803,017 (GRCm39) |
R58L |
possibly damaging |
Het |
| Epn2 |
T |
A |
11: 61,437,237 (GRCm39) |
I112F |
possibly damaging |
Het |
| Ext2 |
T |
C |
2: 93,560,570 (GRCm39) |
E532G |
probably damaging |
Het |
| Fndc3a |
A |
T |
14: 72,889,521 (GRCm39) |
V37E |
probably damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,677,603 (GRCm39) |
F759S |
possibly damaging |
Het |
| Glipr1l2 |
G |
T |
10: 111,928,470 (GRCm39) |
V122L |
probably benign |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gm6871 |
G |
T |
7: 41,195,876 (GRCm39) |
T287K |
probably damaging |
Het |
| Gm7275 |
A |
G |
16: 47,894,120 (GRCm39) |
|
noncoding transcript |
Het |
| Hephl1 |
C |
T |
9: 15,001,364 (GRCm39) |
V254I |
probably damaging |
Het |
| Hnf4a |
C |
A |
2: 163,408,259 (GRCm39) |
Q362K |
possibly damaging |
Het |
| Kcne3 |
C |
T |
7: 99,833,631 (GRCm39) |
R83C |
probably damaging |
Het |
| Klb |
C |
A |
5: 65,533,204 (GRCm39) |
N504K |
probably damaging |
Het |
| Loxl2 |
T |
A |
14: 69,929,851 (GRCm39) |
I743N |
possibly damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,502,891 (GRCm39) |
L287F |
probably damaging |
Het |
| Mcm3ap |
C |
T |
10: 76,320,508 (GRCm39) |
P822L |
possibly damaging |
Het |
| Nacc2 |
T |
C |
2: 25,950,155 (GRCm39) |
N527S |
probably benign |
Het |
| Ncam1 |
G |
T |
9: 49,468,445 (GRCm39) |
P338H |
probably damaging |
Het |
| Nfkbiz |
G |
T |
16: 55,636,757 (GRCm39) |
Q515K |
possibly damaging |
Het |
| Nipsnap2 |
T |
C |
5: 129,834,149 (GRCm39) |
L263P |
probably damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,015,032 (GRCm39) |
S73T |
probably benign |
Het |
| Nomo1 |
G |
A |
7: 45,719,461 (GRCm39) |
|
probably null |
Het |
| Nos3 |
G |
A |
5: 24,582,310 (GRCm39) |
G594D |
probably benign |
Het |
| Oprm1 |
A |
G |
10: 6,780,105 (GRCm39) |
I256V |
probably damaging |
Het |
| Or10ak16 |
A |
G |
4: 118,750,723 (GRCm39) |
T148A |
probably benign |
Het |
| Or10n1 |
A |
T |
9: 39,524,916 (GRCm39) |
T18S |
possibly damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,620 (GRCm39) |
I150V |
probably benign |
Het |
| Oxct2a |
A |
T |
4: 123,217,309 (GRCm39) |
L24Q |
possibly damaging |
Het |
| Pcdhb14 |
T |
G |
18: 37,581,231 (GRCm39) |
S112R |
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,630,329 (GRCm39) |
I1246T |
probably damaging |
Het |
| Ppil4 |
A |
T |
10: 7,683,145 (GRCm39) |
K327N |
probably damaging |
Het |
| Pramel30 |
T |
C |
4: 144,059,575 (GRCm39) |
S429P |
probably benign |
Het |
| Pstpip1 |
T |
C |
9: 56,033,214 (GRCm39) |
Y249H |
probably damaging |
Het |
| Qrsl1 |
A |
T |
10: 43,757,511 (GRCm39) |
V369E |
probably damaging |
Het |
| Ranbp10 |
G |
T |
8: 106,506,610 (GRCm39) |
P237T |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,567,110 (GRCm39) |
N1097S |
probably damaging |
Het |
| Repin1 |
T |
A |
6: 48,574,684 (GRCm39) |
S538T |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,543,046 (GRCm39) |
M1151L |
probably benign |
Het |
| Rin3 |
T |
A |
12: 102,356,355 (GRCm39) |
D965E |
possibly damaging |
Het |
| Sdc2 |
A |
G |
15: 33,028,224 (GRCm39) |
D114G |
probably benign |
Het |
| Slc25a30 |
C |
A |
14: 76,012,523 (GRCm39) |
A42S |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Ssh2 |
T |
A |
11: 77,328,582 (GRCm39) |
F383I |
probably damaging |
Het |
| St8sia1 |
A |
T |
6: 142,774,742 (GRCm39) |
V279E |
probably damaging |
Het |
| Tacc2 |
C |
A |
7: 130,228,328 (GRCm39) |
S1690* |
probably null |
Het |
| Taf1b |
A |
G |
12: 24,597,177 (GRCm39) |
D372G |
possibly damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Tmem165 |
G |
T |
5: 76,355,673 (GRCm39) |
G272C |
probably damaging |
Het |
| Tsc22d2 |
TCAGTTAACACCTATGAACAGT |
TCAGT |
3: 58,324,960 (GRCm39) |
|
probably null |
Het |
| Tssk4 |
C |
A |
14: 55,888,488 (GRCm39) |
A119D |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,316,727 (GRCm39) |
Y1941H |
probably damaging |
Het |
| Vmn2r42 |
A |
T |
7: 8,187,264 (GRCm39) |
M786K |
probably benign |
Het |
| Wdfy3 |
G |
T |
5: 101,991,931 (GRCm39) |
T3470K |
probably benign |
Het |
| Zc3h14 |
T |
C |
12: 98,745,448 (GRCm39) |
V479A |
probably benign |
Het |
| Zfp821 |
G |
A |
8: 110,450,796 (GRCm39) |
R263Q |
probably damaging |
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 |
|
IGL01366:Ghr
|
APN |
15 |
3,349,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCATCTGACTCACAAAAGTAGGC -3'
(R):5'- GATGATGATTCTGGGCGTACCAGC -3'
Sequencing Primer
(F):5'- AAAGTAGGCACTGTTCATGCTG -3'
(R):5'- ACGACCCTGACATTTTGGATACTG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation