Incidental Mutation 'IGL01908:Ghr'
ID179732
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ghr
Ensembl Gene ENSMUSG00000055737
Gene Namegrowth hormone receptor
SynonymsGHR/BP, GHBP
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01908
Quality Score
Status
Chromosome15
Chromosomal Location3317760-3583492 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 3320447 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 416 (C416*)
Ref Sequence ENSEMBL: ENSMUSP00000124064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069451] [ENSMUST00000161561]
Predicted Effect probably null
Transcript: ENSMUST00000069451
AA Change: C416*
SMART Domains Protein: ENSMUSP00000069457
Gene: ENSMUSG00000055737
AA Change: C416*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000161561
AA Change: C416*
SMART Domains Protein: ENSMUSP00000124064
Gene: ENSMUSG00000055737
AA Change: C416*

DomainStartEndE-ValueType
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1 G T 6: 48,906,756 R522L probably damaging Het
Asic5 G T 3: 82,006,570 G184* probably null Het
Bcr T A 10: 75,061,873 I283N possibly damaging Het
Bscl2 A G 19: 8,845,276 T134A probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Clip1 A G 5: 123,623,207 probably benign Het
Clnk T A 5: 38,713,142 N358Y probably damaging Het
Crnkl1 A T 2: 145,928,155 V256E probably benign Het
Ctsm A T 13: 61,537,787 S270R probably benign Het
Dhx57 G T 17: 80,251,443 P1029H probably damaging Het
Dock3 A G 9: 106,906,662 M277T possibly damaging Het
Fbxo11 T C 17: 87,992,300 K874R probably benign Het
Fyco1 A T 9: 123,829,230 L627Q probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Kif13b T C 14: 64,757,558 C920R probably damaging Het
Lrp1b T C 2: 40,702,804 T3768A probably benign Het
Luzp2 T G 7: 55,172,196 S154A probably damaging Het
Olfr656 A T 7: 104,617,699 T7S probably damaging Het
Pisd C A 5: 32,739,132 probably null Het
Rad51ap2 T A 12: 11,458,591 V838D probably damaging Het
Sbf1 A T 15: 89,302,726 D816E probably damaging Het
Stim1 T C 7: 102,435,650 V603A probably benign Het
Tinagl1 G T 4: 130,167,430 T309K probably damaging Het
Trappc11 G A 8: 47,503,994 A799V probably damaging Het
Vmn1r113 T C 7: 20,788,018 L245P probably damaging Het
Vmn1r40 T G 6: 89,714,309 V36G probably damaging Het
Vmn1r40 C T 6: 89,714,303 A34V probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Ghr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Ghr APN 15 3328120 missense probably benign 0.00
IGL01366:Ghr APN 15 3320187 missense probably damaging 1.00
IGL01446:Ghr APN 15 3333355 missense probably damaging 1.00
IGL01730:Ghr APN 15 3320584 missense probably damaging 1.00
IGL02396:Ghr APN 15 3457998 start codon destroyed probably null 0.99
IGL02476:Ghr APN 15 3320046 missense probably damaging 1.00
IGL02863:Ghr APN 15 3328102 nonsense probably null
IGL03338:Ghr APN 15 3347542 missense probably damaging 1.00
gnome UTSW 15 3388646 critical splice donor site probably null
R0334:Ghr UTSW 15 3341098 splice site probably benign
R0387:Ghr UTSW 15 3319891 missense probably benign
R0581:Ghr UTSW 15 3388634 splice site probably benign
R1185:Ghr UTSW 15 3328062 missense possibly damaging 0.50
R1185:Ghr UTSW 15 3328062 missense possibly damaging 0.50
R1185:Ghr UTSW 15 3328062 missense possibly damaging 0.50
R1216:Ghr UTSW 15 3319855 missense probably damaging 1.00
R1294:Ghr UTSW 15 3388646 critical splice donor site probably null
R1607:Ghr UTSW 15 3320574 missense probably damaging 1.00
R1743:Ghr UTSW 15 3320241 missense probably benign 0.06
R2006:Ghr UTSW 15 3327982 missense probably damaging 0.98
R2197:Ghr UTSW 15 3333474 nonsense probably null
R2274:Ghr UTSW 15 3320025 missense probably benign 0.00
R2332:Ghr UTSW 15 3320409 missense probably benign 0.16
R4283:Ghr UTSW 15 3333448 missense possibly damaging 0.73
R4519:Ghr UTSW 15 3333488 missense probably damaging 1.00
R4521:Ghr UTSW 15 3325958 missense probably damaging 1.00
R4714:Ghr UTSW 15 3320397 missense possibly damaging 0.91
R4717:Ghr UTSW 15 3319753 missense possibly damaging 0.81
R4724:Ghr UTSW 15 3325940 missense probably benign 0.31
R5087:Ghr UTSW 15 3320140 missense probably damaging 1.00
R5269:Ghr UTSW 15 3320079 missense probably benign 0.16
R5429:Ghr UTSW 15 3388675 nonsense probably null
R6012:Ghr UTSW 15 3340927 missense probably damaging 0.98
R6135:Ghr UTSW 15 3325965 missense probably benign 0.04
R6588:Ghr UTSW 15 3320268 missense probably benign 0.14
R7069:Ghr UTSW 15 3320484 missense probably damaging 1.00
R7074:Ghr UTSW 15 3333391 missense probably damaging 1.00
R7408:Ghr UTSW 15 3347572 missense probably benign 0.00
R7540:Ghr UTSW 15 3319914 missense possibly damaging 0.72
X0017:Ghr UTSW 15 3320694 missense probably damaging 1.00
X0064:Ghr UTSW 15 3320212 missense possibly damaging 0.90
Posted On2014-05-07