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) question?
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

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: ENSMUST00000161561
AA Change: D374G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124064
Gene: ENSMUSG00000055737
AA Change: D374G

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
  • 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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