Incidental Mutation 'R5087:Ghr'
ID |
387535 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ghr
|
Ensembl Gene |
ENSMUSG00000055737 |
Gene Name |
growth hormone receptor |
Synonyms |
GHR/BP, GHBP |
MMRRC Submission |
042676-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5087 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
3347237-3612834 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 3349622 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamine
at position 519
(K519Q)
|
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: K519Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000069457 Gene: ENSMUSG00000055737 AA Change: K519Q
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: K519Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124064 Gene: ENSMUSG00000055737 AA Change: K519Q
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 |
|
Meta Mutation Damage Score |
0.5034 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
99% (66/67) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adhfe1 |
A |
G |
1: 9,631,851 (GRCm39) |
|
probably benign |
Het |
Anln |
T |
C |
9: 22,286,340 (GRCm39) |
T322A |
possibly damaging |
Het |
Best3 |
A |
T |
10: 116,844,907 (GRCm39) |
Y354F |
probably benign |
Het |
Cd44 |
C |
T |
2: 102,661,699 (GRCm39) |
V509I |
possibly damaging |
Het |
Cdk5rap1 |
T |
C |
2: 154,184,315 (GRCm39) |
N529S |
probably damaging |
Het |
Cnst |
A |
G |
1: 179,450,378 (GRCm39) |
D614G |
possibly damaging |
Het |
Cpq |
T |
C |
15: 33,213,008 (GRCm39) |
I9T |
probably benign |
Het |
Cyp2j6 |
T |
C |
4: 96,419,936 (GRCm39) |
H265R |
probably damaging |
Het |
Dctn1 |
T |
A |
6: 83,168,621 (GRCm39) |
M458K |
probably damaging |
Het |
Disc1 |
A |
C |
8: 125,858,899 (GRCm39) |
I454L |
probably benign |
Het |
Dnaja4 |
A |
G |
9: 54,607,023 (GRCm39) |
E4G |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Eipr1 |
C |
A |
12: 28,878,855 (GRCm39) |
N136K |
probably benign |
Het |
Fut11 |
A |
G |
14: 20,746,229 (GRCm39) |
N357S |
probably damaging |
Het |
Gbp2b |
C |
T |
3: 142,304,015 (GRCm39) |
P37S |
probably damaging |
Het |
Gipr |
C |
A |
7: 18,893,689 (GRCm39) |
C328F |
probably damaging |
Het |
Gm27013 |
A |
T |
6: 130,654,633 (GRCm39) |
N276K |
probably damaging |
Het |
Got2 |
C |
A |
8: 96,598,951 (GRCm39) |
K150N |
probably benign |
Het |
Gucy2c |
A |
G |
6: 136,744,033 (GRCm39) |
S189P |
possibly damaging |
Het |
H2-T5 |
C |
A |
17: 36,476,308 (GRCm39) |
G347* |
probably null |
Het |
Hells |
T |
C |
19: 38,932,189 (GRCm39) |
V153A |
probably benign |
Het |
Ighd |
G |
A |
12: 113,378,047 (GRCm39) |
|
probably benign |
Het |
Inhca |
C |
T |
9: 103,143,420 (GRCm39) |
V361M |
probably damaging |
Het |
Itga4 |
A |
C |
2: 79,145,973 (GRCm39) |
D725A |
possibly damaging |
Het |
Itgbl1 |
T |
A |
14: 124,204,151 (GRCm39) |
L414Q |
possibly damaging |
Het |
Kat2b-ps |
A |
G |
5: 93,539,585 (GRCm39) |
|
noncoding transcript |
Het |
Lrrc1 |
A |
T |
9: 77,364,740 (GRCm39) |
S192T |
probably benign |
Het |
Mc2r |
A |
T |
18: 68,541,274 (GRCm39) |
N6K |
probably benign |
Het |
Moxd2 |
A |
C |
6: 40,856,270 (GRCm39) |
L534W |
probably damaging |
Het |
Myh4 |
A |
T |
11: 67,146,235 (GRCm39) |
D1431V |
probably damaging |
Het |
Naa15 |
T |
A |
3: 51,364,706 (GRCm39) |
|
probably null |
Het |
Naa16 |
G |
A |
14: 79,614,855 (GRCm39) |
T215I |
possibly damaging |
Het |
Ntng1 |
A |
T |
3: 110,042,645 (GRCm39) |
Y60* |
probably null |
Het |
Or1e29 |
T |
C |
11: 73,668,084 (GRCm39) |
Y23C |
possibly damaging |
Het |
Or2g25 |
A |
T |
17: 37,970,612 (GRCm39) |
V204E |
probably damaging |
Het |
Pccb |
T |
C |
9: 100,867,296 (GRCm39) |
|
probably benign |
Het |
Pcnx1 |
C |
A |
12: 82,041,713 (GRCm39) |
P2115Q |
probably damaging |
Het |
Pfkfb3 |
G |
A |
2: 11,488,825 (GRCm39) |
T313I |
probably damaging |
Het |
Pld1 |
A |
G |
3: 28,178,731 (GRCm39) |
N875S |
probably damaging |
Het |
Ptpn20 |
A |
T |
14: 33,336,398 (GRCm39) |
D79V |
possibly damaging |
Het |
Rabgap1l |
C |
A |
1: 160,549,809 (GRCm39) |
V266L |
probably damaging |
Het |
Reep6 |
A |
G |
10: 80,171,009 (GRCm39) |
D295G |
probably damaging |
Het |
Sass6 |
T |
C |
3: 116,403,947 (GRCm39) |
L195P |
probably damaging |
Het |
Slc25a27 |
A |
G |
17: 43,977,821 (GRCm39) |
S25P |
probably damaging |
Het |
Smok2b |
T |
A |
17: 13,454,011 (GRCm39) |
M57K |
probably benign |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,465,405 (GRCm39) |
V71A |
possibly damaging |
Het |
Stab1 |
G |
A |
14: 30,881,261 (GRCm39) |
L590F |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,527,500 (GRCm39) |
Y1252* |
probably null |
Het |
Syde2 |
T |
A |
3: 145,712,881 (GRCm39) |
D1006E |
probably damaging |
Het |
Syde2 |
CAGTT |
CAGTTAGTT |
3: 145,707,163 (GRCm39) |
|
probably null |
Het |
Tmc5 |
G |
A |
7: 118,244,609 (GRCm39) |
A496T |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,566,704 (GRCm39) |
V28063A |
probably damaging |
Het |
Usp25 |
A |
C |
16: 76,874,007 (GRCm39) |
I528L |
probably benign |
Het |
Vmn1r58 |
C |
T |
7: 5,413,666 (GRCm39) |
S188N |
probably benign |
Het |
Wfikkn2 |
A |
T |
11: 94,129,173 (GRCm39) |
C323S |
probably damaging |
Het |
Zfy1 |
A |
C |
Y: 732,964 (GRCm39) |
S290A |
unknown |
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 |
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 |
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'- AGACATCTGGGCAGTAGTGG -3'
(R):5'- TGGAAGCTGATCTCTTGTGCC -3'
Sequencing Primer
(F):5'- CATCTGGGCAGTAGTGGTAAGGC -3'
(R):5'- CTCTTGTGCCTTGATCAGAAGAATC -3'
|
Posted On |
2016-06-06 |