Incidental Mutation 'R6012:Ghr'
ID 479828
Institutional Source Beutler Lab
Gene Symbol Ghr
Ensembl Gene ENSMUSG00000055737
Gene Name growth hormone receptor
Synonyms GHR/BP, GHBP
MMRRC Submission 044188-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6012 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 3347237-3612834 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3370409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 152 (D152G)
Ref Sequence ENSEMBL: ENSMUSP00000125044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069451] [ENSMUST00000110697] [ENSMUST00000110698] [ENSMUST00000161561] [ENSMUST00000161770]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000069451
AA Change: D152G

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000069457
Gene: ENSMUSG00000055737
AA Change: D152G

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: D152G

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106325
Gene: ENSMUSG00000055737
AA Change: D152G

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: D152G

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106326
Gene: ENSMUSG00000055737
AA Change: D152G

DomainStartEndE-ValueType
Pfam:EpoR_lig-bind 43 152 5.4e-13 PFAM
FN3 159 249 3.99e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160343
Predicted Effect possibly damaging
Transcript: ENSMUST00000161561
AA Change: D152G

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124064
Gene: ENSMUSG00000055737
AA Change: D152G

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 damaging
Transcript: ENSMUST00000161770
AA Change: D152G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125044
Gene: ENSMUSG00000055737
AA Change: D152G

DomainStartEndE-ValueType
Pfam:EpoR_lig-bind 43 152 2.4e-13 PFAM
Blast:FN3 159 183 9e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162993
Meta Mutation Damage Score 0.3476 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.4%
Validation Efficiency 100% (55/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,400,691 (GRCm39) Y97N probably damaging Het
Adrm1b C A 3: 92,336,791 (GRCm39) probably null Het
Akr1b10 A T 6: 34,364,715 (GRCm39) I59F probably damaging Het
Als2 A T 1: 59,224,374 (GRCm39) D1076E probably damaging Het
Bank1 T C 3: 135,919,598 (GRCm39) D266G probably benign Het
Bmp2k T A 5: 97,211,467 (GRCm39) probably null Het
Cdc42bpa A G 1: 179,892,655 (GRCm39) Y273C probably damaging Het
Chfr G T 5: 110,292,517 (GRCm39) probably null Het
Dapk1 A T 13: 60,909,476 (GRCm39) Q1363L probably benign Het
Ddx23 A T 15: 98,548,651 (GRCm39) D352E possibly damaging Het
Ect2 T C 3: 27,152,474 (GRCm39) probably benign Het
Efcab10 A C 12: 33,448,592 (GRCm39) D107A probably damaging Het
Fcgr4 G A 1: 170,853,233 (GRCm39) G146D possibly damaging Het
Fgd5 A G 6: 91,966,322 (GRCm39) T694A possibly damaging Het
Gli2 A C 1: 118,765,445 (GRCm39) L902R probably damaging Het
Glis2 G A 16: 4,429,172 (GRCm39) G125D possibly damaging Het
Gmcl1 A G 6: 86,698,394 (GRCm39) Y168H probably damaging Het
Golga4 A G 9: 118,388,764 (GRCm39) K1962R possibly damaging Het
Hebp1 T A 6: 135,145,055 (GRCm39) E14V probably damaging Het
Hhla1 A C 15: 65,820,339 (GRCm39) I137S probably damaging Het
Hivep1 A G 13: 42,337,934 (GRCm39) H2671R possibly damaging Het
Hltf A G 3: 20,113,098 (GRCm39) Y19C probably damaging Het
Hsd3b2 A T 3: 98,619,333 (GRCm39) M204K probably benign Het
Hspa4l A T 3: 40,736,031 (GRCm39) I551F probably benign Het
Itpkc A T 7: 26,927,490 (GRCm39) D141E probably damaging Het
Kcnc3 A G 7: 44,248,296 (GRCm39) D757G probably benign Het
Mettl16 A T 11: 74,678,474 (GRCm39) Y141F probably damaging Het
Mfng G A 15: 78,640,840 (GRCm39) R302C probably damaging Het
Mogs T A 6: 83,094,363 (GRCm39) S393R probably damaging Het
Mrps28 A G 3: 8,965,044 (GRCm39) probably null Het
Nfat5 T C 8: 108,093,765 (GRCm39) S150P probably benign Het
Or2w1 T C 13: 21,316,978 (GRCm39) V11A probably benign Het
Or7d10 A T 9: 19,832,237 (GRCm39) H244L probably damaging Het
Pcdh12 A G 18: 38,416,805 (GRCm39) S107P probably damaging Het
Phf21a G A 2: 92,182,120 (GRCm39) D463N probably damaging Het
Picalm A C 7: 89,844,908 (GRCm39) I567L probably benign Het
Pla2g4a T A 1: 149,808,428 (GRCm39) D5V possibly damaging Het
Sspo C T 6: 48,428,305 (GRCm39) T222M probably benign Het
Stard9 T C 2: 120,535,067 (GRCm39) S3775P probably damaging Het
Stk31 A T 6: 49,446,243 (GRCm39) D982V probably damaging Het
Tas2r113 C T 6: 132,870,644 (GRCm39) T224I probably damaging Het
Tbc1d15 T C 10: 115,055,112 (GRCm39) D310G probably damaging Het
Tcf12 G T 9: 71,766,229 (GRCm39) T468K possibly damaging Het
Tenm4 A G 7: 96,171,640 (GRCm39) probably benign Het
Tet2 A G 3: 133,172,542 (GRCm39) Y1907H possibly damaging Het
Thsd7a T C 6: 12,379,388 (GRCm39) probably null Het
Tln1 T A 4: 43,539,508 (GRCm39) T1605S probably benign Het
Trp53bp1 T C 2: 121,087,083 (GRCm39) Y191C probably benign Het
Ugcg T A 4: 59,220,272 (GRCm39) I355N probably damaging Het
Vmn1r21 A T 6: 57,820,891 (GRCm39) D184E probably damaging Het
Vsig10l T A 7: 43,117,439 (GRCm39) D575E probably damaging Het
Zan G A 5: 137,462,791 (GRCm39) T796I unknown Het
Zfp639 A G 3: 32,573,271 (GRCm39) D61G probably damaging 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
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
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'- CTTTAAGCTGGAATCAAGTTACCTG -3'
(R):5'- CCAGATACCTTACTTTGACTAAAGC -3'

Sequencing Primer
(F):5'- TTAGACTCCTGTGAGACAG -3'
(R):5'- GGATACCCTACTGCATCAAG -3'
Posted On 2017-06-26