Incidental Mutation 'R1607:Ghr'
ID |
176582 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ghr
|
Ensembl Gene |
ENSMUSG00000055737 |
Gene Name |
growth hormone receptor |
Synonyms |
GHR/BP, GHBP |
MMRRC Submission |
039644-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1607 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
3347237-3612834 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3350056 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 374
(D374G)
|
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: D374G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000069457 Gene: ENSMUSG00000055737 AA Change: D374G
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: D374G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124064 Gene: ENSMUSG00000055737 AA Change: D374G
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: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.5%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
C |
T |
7: 119,850,514 (GRCm39) |
P789S |
probably damaging |
Het |
Adam17 |
T |
A |
12: 21,384,139 (GRCm39) |
|
probably null |
Het |
Afdn |
C |
T |
17: 14,030,763 (GRCm39) |
R224W |
probably damaging |
Het |
Als2 |
A |
G |
1: 59,219,306 (GRCm39) |
Y1215H |
probably damaging |
Het |
Anks1b |
A |
T |
10: 89,878,410 (GRCm39) |
D73V |
probably damaging |
Het |
Bpifb6 |
T |
C |
2: 153,748,781 (GRCm39) |
F259S |
probably damaging |
Het |
Cenpv |
A |
T |
11: 62,416,002 (GRCm39) |
M249K |
probably benign |
Het |
Ces1d |
C |
T |
8: 93,912,746 (GRCm39) |
V231I |
probably benign |
Het |
Clasp1 |
G |
A |
1: 118,432,689 (GRCm39) |
V460I |
probably damaging |
Het |
Cnot10 |
A |
T |
9: 114,458,163 (GRCm39) |
Y114* |
probably null |
Het |
Cpb1 |
G |
T |
3: 20,317,946 (GRCm39) |
R193S |
probably benign |
Het |
Ctc1 |
T |
C |
11: 68,926,976 (GRCm39) |
S1207P |
possibly damaging |
Het |
Cttnbp2 |
T |
A |
6: 18,435,432 (GRCm39) |
K142M |
probably damaging |
Het |
Dhrs7b |
T |
G |
11: 60,742,717 (GRCm39) |
D136E |
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,329,806 (GRCm39) |
S3217P |
probably damaging |
Het |
Eif4g3 |
C |
T |
4: 137,853,874 (GRCm39) |
S480L |
probably benign |
Het |
Enah |
A |
T |
1: 181,744,762 (GRCm39) |
|
probably null |
Het |
Epx |
T |
C |
11: 87,759,538 (GRCm39) |
D517G |
probably damaging |
Het |
Gabrg2 |
T |
A |
11: 41,867,490 (GRCm39) |
D43V |
probably damaging |
Het |
Gdf9 |
A |
T |
11: 53,328,338 (GRCm39) |
E431D |
possibly damaging |
Het |
Gin1 |
A |
T |
1: 97,713,875 (GRCm39) |
I392F |
probably damaging |
Het |
Greb1l |
A |
G |
18: 10,529,703 (GRCm39) |
E786G |
possibly damaging |
Het |
Grk4 |
T |
C |
5: 34,888,882 (GRCm39) |
V342A |
probably benign |
Het |
Hhipl2 |
A |
T |
1: 183,204,432 (GRCm39) |
Y135F |
possibly damaging |
Het |
Insig1 |
C |
T |
5: 28,276,706 (GRCm39) |
R91W |
probably damaging |
Het |
Kcnf1 |
C |
G |
12: 17,225,733 (GRCm39) |
D163H |
probably benign |
Het |
Kif11 |
A |
T |
19: 37,375,648 (GRCm39) |
K190* |
probably null |
Het |
Ldb2 |
T |
G |
5: 44,630,814 (GRCm39) |
E309A |
probably damaging |
Het |
Lipo4 |
T |
G |
19: 33,490,073 (GRCm39) |
D143A |
probably damaging |
Het |
Map3k6 |
T |
G |
4: 132,979,784 (GRCm39) |
I1261S |
probably damaging |
Het |
Mtus1 |
C |
T |
8: 41,468,446 (GRCm39) |
V27I |
possibly damaging |
Het |
Ndufaf2 |
C |
T |
13: 108,228,107 (GRCm39) |
V60I |
probably benign |
Het |
Nup133 |
A |
G |
8: 124,675,774 (GRCm39) |
F48L |
probably benign |
Het |
Or1i2 |
G |
T |
10: 78,447,974 (GRCm39) |
T167N |
probably benign |
Het |
Or2w4 |
A |
C |
13: 21,795,934 (GRCm39) |
F68L |
probably benign |
Het |
Or5w11 |
T |
A |
2: 87,459,321 (GRCm39) |
N171K |
probably benign |
Het |
Pcdhb21 |
A |
T |
18: 37,648,532 (GRCm39) |
N554Y |
probably damaging |
Het |
Pcx |
A |
T |
19: 4,653,187 (GRCm39) |
D284V |
possibly damaging |
Het |
Pcyt1a |
T |
C |
16: 32,285,937 (GRCm39) |
S203P |
probably damaging |
Het |
Pdlim3 |
A |
T |
8: 46,349,896 (GRCm39) |
I69F |
probably damaging |
Het |
Pkp4 |
T |
C |
2: 59,152,898 (GRCm39) |
V598A |
probably benign |
Het |
Plbd1 |
T |
C |
6: 136,589,304 (GRCm39) |
I509V |
probably benign |
Het |
Polr3b |
C |
A |
10: 84,488,647 (GRCm39) |
T319N |
probably benign |
Het |
Ptprj |
T |
C |
2: 90,293,664 (GRCm39) |
D380G |
probably benign |
Het |
Ralgapa1 |
T |
G |
12: 55,788,321 (GRCm39) |
R587S |
probably damaging |
Het |
Scn5a |
C |
A |
9: 119,315,158 (GRCm39) |
R1850L |
probably damaging |
Het |
Ssc5d |
C |
A |
7: 4,947,042 (GRCm39) |
T1132K |
probably benign |
Het |
Stard7 |
T |
A |
2: 127,137,406 (GRCm39) |
N285K |
possibly damaging |
Het |
Tcp11l2 |
C |
T |
10: 84,449,351 (GRCm39) |
R439W |
probably damaging |
Het |
Tecrl |
T |
C |
5: 83,428,355 (GRCm39) |
|
probably null |
Het |
Tep1 |
A |
T |
14: 51,062,020 (GRCm39) |
L2570Q |
probably null |
Het |
Tex14 |
A |
T |
11: 87,445,754 (GRCm39) |
D191V |
probably damaging |
Het |
Tm7sf2 |
A |
G |
19: 6,113,049 (GRCm39) |
|
probably null |
Het |
Tmem132e |
A |
G |
11: 82,328,196 (GRCm39) |
K408R |
probably benign |
Het |
Tube1 |
A |
G |
10: 39,020,762 (GRCm39) |
D216G |
possibly damaging |
Het |
Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
Vmn2r82 |
A |
G |
10: 79,215,253 (GRCm39) |
H412R |
possibly damaging |
Het |
Wtip |
T |
C |
7: 33,816,020 (GRCm39) |
E352G |
probably damaging |
Het |
Xirp2 |
T |
A |
2: 67,340,639 (GRCm39) |
L960* |
probably null |
Het |
Zc3h11a |
A |
C |
1: 133,552,425 (GRCm39) |
S561A |
probably benign |
Het |
Zfhx2 |
A |
T |
14: 55,300,442 (GRCm39) |
D2436E |
probably damaging |
Het |
Zfp763 |
T |
C |
17: 33,238,881 (GRCm39) |
H88R |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCAAGGCACAAGAGATCAGCTTCC -3'
(R):5'- CCCAGTCCCAGTTCCAAAGATTAAAGG -3'
Sequencing Primer
(F):5'- CCATATTTAACTTCTGTGACTGAGC -3'
(R):5'- gttggttgggttttgttgttg -3'
|
Posted On |
2014-04-24 |