Incidental Mutation 'R1185:Ghr'
ID 102071
Institutional Source Beutler Lab
Gene Symbol Ghr
Ensembl Gene ENSMUSG00000055737
Gene Name growth hormone receptor
Synonyms GHR/BP, GHBP
MMRRC Submission 039257-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1185 (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 A at 3357544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 241 (R241S)
Ref Sequence ENSEMBL: ENSMUSP00000106326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069451] [ENSMUST00000110697] [ENSMUST00000110698] [ENSMUST00000161561]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000069451
AA Change: R241S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000069457
Gene: ENSMUSG00000055737
AA Change: R241S

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 possibly damaging
Transcript: ENSMUST00000110697
AA Change: R241S

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106325
Gene: ENSMUSG00000055737
AA Change: R241S

DomainStartEndE-ValueType
Pfam:EpoR_lig-bind 43 152 5.4e-13 PFAM
FN3 159 249 3.99e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000110698
AA Change: R241S

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106326
Gene: ENSMUSG00000055737
AA Change: R241S

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: R241S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000124064
Gene: ENSMUSG00000055737
AA Change: R241S

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 96.3%
  • 10x: 87.8%
  • 20x: 68.2%
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
Aimp2 A G 5: 143,841,509 (GRCm39) S110P possibly damaging Het
Akap9 A G 5: 3,998,783 (GRCm39) T51A probably benign Het
Arhgef25 A G 10: 127,019,650 (GRCm39) F430L possibly damaging Het
Brap T C 5: 121,813,342 (GRCm39) V235A probably damaging Het
Cd69 C T 6: 129,247,148 (GRCm39) G23D probably damaging Het
Cecr2 C T 6: 120,735,166 (GRCm39) R24* probably null Het
Celsr2 T C 3: 108,307,025 (GRCm39) D1974G possibly damaging Het
Cps1 A G 1: 67,234,358 (GRCm39) K915R probably benign Het
Csmd1 T C 8: 16,408,362 (GRCm39) D401G probably damaging Het
Dusp13b A G 14: 21,785,086 (GRCm39) F141S probably damaging Het
Eif1ad19 A G 12: 87,740,478 (GRCm39) V27A probably benign Het
Fam162b A G 10: 51,466,439 (GRCm39) W27R probably benign Het
Focad A G 4: 88,096,424 (GRCm39) T269A probably benign Het
Hirip3 AAGAG AAG 7: 126,462,832 (GRCm39) probably null Het
Ift70a1 A T 2: 75,810,696 (GRCm39) N462K probably damaging Het
Itgb2l A G 16: 96,230,240 (GRCm39) Y357H possibly damaging Het
Jrkl T C 9: 13,244,938 (GRCm39) D241G possibly damaging Het
Lmod1 A G 1: 135,291,967 (GRCm39) D274G probably benign Het
Lrrn2 A G 1: 132,866,959 (GRCm39) S675G probably benign Het
Ltbp4 G C 7: 27,009,960 (GRCm39) P1200R probably damaging Het
Mdn1 T C 4: 32,735,576 (GRCm39) L3414P possibly damaging Het
Myo16 T A 8: 10,683,624 (GRCm39) S1856T probably damaging Het
Neb A G 2: 52,186,310 (GRCm39) Y921H probably damaging Het
Or2n1c T A 17: 38,520,074 (GRCm39) *313R probably null Het
Pgap3 T C 11: 98,281,960 (GRCm39) D117G probably damaging Het
Ppp1r9b T C 11: 94,892,812 (GRCm39) F671L possibly damaging Het
Proser3 G A 7: 30,245,572 (GRCm39) A144V probably benign Het
Purg T G 8: 33,876,897 (GRCm39) Y178* probably null Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Sorbs1 T A 19: 40,371,050 (GRCm39) D79V probably damaging Het
Tcaf3 T C 6: 42,568,368 (GRCm39) T663A probably damaging Het
Timd4 C A 11: 46,708,475 (GRCm39) T167K probably damaging Het
Tjp2 A G 19: 24,108,527 (GRCm39) L195P possibly damaging Het
Tnr G A 1: 159,679,856 (GRCm39) A277T probably benign Het
Unc13a C T 8: 72,114,477 (GRCm39) G181D probably benign Het
Vmn1r11 T A 6: 57,114,492 (GRCm39) L52Q possibly damaging Het
Vmn2r125 C A 4: 156,703,396 (GRCm39) A258D probably benign Het
Zfp27 T C 7: 29,595,254 (GRCm39) D237G possibly damaging Het
Zfp39 T C 11: 58,793,670 (GRCm39) T23A possibly damaging Het
Zfp459 T G 13: 67,556,600 (GRCm39) N161T probably benign Het
Other mutations in Ghr
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CAATGTCTTGCCCCTGATATGTGAAACT -3'
(R):5'- AAGACCAAATGCAAACATATGGCTGC -3'

Sequencing Primer
(F):5'- TAGACAATATACTAACAAGTGGAGGC -3'
(R):5'- ATAGCCAATTCCTTCTAGGTAGGTTC -3'
Posted On 2014-01-15