Incidental Mutation 'IGL01446:Ghr'
ID84433
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 #IGL01446
Quality Score
Status
Chromosome15
Chromosomal Location3317760-3583492 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 3333355 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 212 (W212R)
Ref Sequence ENSEMBL: ENSMUSP00000106326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069451] [ENSMUST00000110697] [ENSMUST00000110698] [ENSMUST00000161561] [ENSMUST00000161770]
Predicted Effect probably benign
Transcript: ENSMUST00000069451
AA Change: W212R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000069457
Gene: ENSMUSG00000055737
AA Change: W212R

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 damaging
Transcript: ENSMUST00000110697
AA Change: W212R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106325
Gene: ENSMUSG00000055737
AA Change: W212R

DomainStartEndE-ValueType
Pfam:EpoR_lig-bind 43 152 5.4e-13 PFAM
FN3 159 249 3.99e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110698
AA Change: W212R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106326
Gene: ENSMUSG00000055737
AA Change: W212R

DomainStartEndE-ValueType
Pfam:EpoR_lig-bind 43 152 5.4e-13 PFAM
FN3 159 249 3.99e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161561
AA Change: W212R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000124064
Gene: ENSMUSG00000055737
AA Change: W212R

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
Predicted Effect probably benign
Transcript: ENSMUST00000161770
SMART Domains Protein: ENSMUSP00000125044
Gene: ENSMUSG00000055737

DomainStartEndE-ValueType
Pfam:EpoR_lig-bind 43 152 2.4e-13 PFAM
Blast:FN3 159 183 9e-9 BLAST
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Acaca A G 11: 84,260,631 K785R probably damaging Het
Acsm3 G A 7: 119,778,454 V401M probably damaging Het
Aff4 G T 11: 53,415,469 R1146L probably damaging Het
Alms1 C A 6: 85,696,701 P3562T probably damaging Het
Arsj A G 3: 126,438,814 E403G probably benign Het
Baiap2l1 C T 5: 144,275,913 V431I probably benign Het
Cecr2 T A 6: 120,758,599 M904K probably benign Het
Cenpe A T 3: 135,237,539 T775S probably benign Het
Dennd1b G A 1: 139,023,110 E30K possibly damaging Het
Dnah5 A G 15: 28,326,669 D2008G probably damaging Het
Dnm2 T C 9: 21,481,376 V460A probably damaging Het
Ell2 G T 13: 75,761,991 L285F probably benign Het
Erg A G 16: 95,361,282 S322P probably damaging Het
Extl3 A G 14: 65,077,080 F218L probably benign Het
Fam84a A T 12: 14,149,928 I266N probably damaging Het
Fzd9 T C 5: 135,250,566 E155G probably damaging Het
Gulp1 A G 1: 44,744,548 probably benign Het
Hdgfl2 C T 17: 56,097,281 R332C possibly damaging Het
Nsd2 T C 5: 33,861,186 probably benign Het
Olfr1259 A G 2: 89,943,938 F59S probably damaging Het
Olfr1441 T C 19: 12,422,801 I164T possibly damaging Het
Olfr1480 C T 19: 13,530,252 T237I probably benign Het
Phf11b A C 14: 59,341,291 S9A probably benign Het
Psd4 T C 2: 24,405,395 S854P probably damaging Het
Reln C T 5: 21,969,317 D1963N probably damaging Het
Rpe65 T A 3: 159,600,405 probably benign Het
Sdccag8 T C 1: 176,845,245 S235P probably damaging Het
Sgip1 G T 4: 102,928,913 probably null Het
Skint5 G A 4: 113,942,822 P36L probably damaging Het
Slc26a3 G T 12: 31,452,491 probably benign Het
Snx13 T A 12: 35,124,480 C669* probably null Het
Svil A T 18: 5,062,385 T902S probably damaging Het
Syne2 T C 12: 76,041,375 S4989P probably damaging Het
Ttn G A 2: 76,809,939 T13775M probably damaging Het
Ubr4 T C 4: 139,438,040 probably benign Het
Ush1c C T 7: 46,208,956 R636H possibly damaging Het
Usp17lc A T 7: 103,418,444 R315S probably benign Het
Vmn1r236 T A 17: 21,286,656 V12D probably benign Het
Wsb2 T G 5: 117,371,164 I170S probably damaging Het
Zfp800 G A 6: 28,242,984 L661F possibly damaging 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
IGL01730:Ghr APN 15 3320584 missense probably damaging 1.00
IGL01908:Ghr APN 15 3320447 nonsense probably null
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
Elfin UTSW 15 3340927 missense probably damaging 0.98
garden UTSW 15 3347572 missense probably benign 0.00
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
R7575:Ghr UTSW 15 3320512 missense probably damaging 1.00
R7822:Ghr UTSW 15 3457957 missense probably benign 0.00
R7922:Ghr UTSW 15 3341074 missense possibly damaging 0.56
R8221:Ghr UTSW 15 3333419 missense probably benign 0.37
X0017:Ghr UTSW 15 3320694 missense probably damaging 1.00
X0064:Ghr UTSW 15 3320212 missense possibly damaging 0.90
Z1176:Ghr UTSW 15 3347485 missense probably benign 0.04
Posted On2013-11-11