Incidental Mutation 'R7408:Ghr'
ID 574878
Institutional Source Beutler Lab
Gene Symbol Ghr
Ensembl Gene ENSMUSG00000055737
Gene Name growth hormone receptor
Synonyms GHR/BP, GHBP
MMRRC Submission 045489-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7408 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 3347237-3612834 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3377054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 56 (C56R)
Ref Sequence ENSEMBL: ENSMUSP00000069457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069451] [ENSMUST00000110697] [ENSMUST00000110698] [ENSMUST00000161561] [ENSMUST00000161770]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000069451
AA Change: C56R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000069457
Gene: ENSMUSG00000055737
AA Change: C56R

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: C56R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106325
Gene: ENSMUSG00000055737
AA Change: C56R

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: C56R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106326
Gene: ENSMUSG00000055737
AA Change: C56R

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: C56R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000124064
Gene: ENSMUSG00000055737
AA Change: C56R

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
AA Change: C56R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125044
Gene: ENSMUSG00000055737
AA Change: C56R

DomainStartEndE-ValueType
Pfam:EpoR_lig-bind 43 152 2.4e-13 PFAM
Blast:FN3 159 183 9e-9 BLAST
Meta Mutation Damage Score 0.9534 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (71/71)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg1 T C 1: 82,860,030 (GRCm39) F299S probably damaging Het
Arhgap32 A T 9: 32,157,220 (GRCm39) E72D probably benign Het
Arid1a G T 4: 133,408,391 (GRCm39) Q1654K unknown Het
Atp6v1f A C 6: 29,470,194 (GRCm39) H96P probably damaging Het
Cast A G 13: 74,887,960 (GRCm39) V161A probably damaging Het
Ccdc186 A T 19: 56,796,610 (GRCm39) C320S probably damaging Het
Cgn T A 3: 94,670,362 (GRCm39) K1031* probably null Het
Cnot10 T C 9: 114,460,894 (GRCm39) N92S probably benign Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Cstf2t T C 19: 31,060,593 (GRCm39) V43A possibly damaging Het
D930020B18Rik T C 10: 121,525,739 (GRCm39) L547P probably damaging Het
Dennd1a G A 2: 37,742,184 (GRCm39) probably null Het
Dtnb T A 12: 3,694,272 (GRCm39) probably null Het
Entpd1 A G 19: 40,727,309 (GRCm39) N486D possibly damaging Het
Fes G A 7: 80,028,410 (GRCm39) R736C probably damaging Het
Galr1 T G 18: 82,411,990 (GRCm39) Y292S probably damaging Het
Gda T A 19: 21,405,988 (GRCm39) D80V probably damaging Het
Golgb1 A G 16: 36,718,909 (GRCm39) T313A probably damaging Het
Gpaa1 A T 15: 76,217,193 (GRCm39) D236V probably damaging Het
Gsdmc A G 15: 63,676,315 (GRCm39) S43P probably benign Het
Gsdmd A G 15: 75,738,202 (GRCm39) E295G probably damaging Het
Htatip2 A G 7: 49,409,534 (GRCm39) K96R probably benign Het
Insm1 T A 2: 146,064,711 (GRCm39) F176I probably benign Het
Itih1 T C 14: 30,665,117 (GRCm39) E36G probably benign Het
Jak1 A G 4: 101,032,379 (GRCm39) V409A probably damaging Het
Knl1 A G 2: 118,901,073 (GRCm39) I925V possibly damaging Het
Lcmt2 A G 2: 120,969,185 (GRCm39) S413P probably benign Het
Lmo7 T C 14: 102,118,389 (GRCm39) S205P probably damaging Het
Lrch3 C A 16: 32,807,113 (GRCm39) S462* probably null Het
Lrrtm2 T C 18: 35,346,688 (GRCm39) I205V possibly damaging Het
Mark3 T G 12: 111,600,223 (GRCm39) N479K probably damaging Het
Mrpl19 C T 6: 81,942,793 (GRCm39) G39D possibly damaging Het
Msh4 A G 3: 153,582,382 (GRCm39) Y497H probably benign Het
Msl2 T A 9: 100,979,316 (GRCm39) D563E probably benign Het
Mta1 G A 12: 113,095,088 (GRCm39) probably null Het
Nalcn T A 14: 123,529,272 (GRCm39) Q1401L probably benign Het
Ncapg T C 5: 45,853,135 (GRCm39) L867P probably benign Het
Nkapl T C 13: 21,652,013 (GRCm39) D200G unknown Het
Nos1 A C 5: 118,005,583 (GRCm39) E101A probably damaging Het
Npat T C 9: 53,481,216 (GRCm39) S1008P probably damaging Het
Ntng1 A G 3: 109,760,398 (GRCm39) I358T probably benign Het
Or11h6 A G 14: 50,879,852 (GRCm39) E32G probably benign Het
Or13p4 C T 4: 118,546,859 (GRCm39) M263I probably damaging Het
Or2d2b A G 7: 106,705,274 (GRCm39) S265P probably benign Het
Or4b1 T A 2: 89,980,188 (GRCm39) H54L probably benign Het
Or6c88 A G 10: 129,406,493 (GRCm39) probably benign Het
Pex1 A G 5: 3,680,222 (GRCm39) D948G probably damaging Het
Pkd1l2 A T 8: 117,755,218 (GRCm39) I1660N possibly damaging Het
Pkp2 T A 16: 16,079,537 (GRCm39) Y540N possibly damaging Het
Pkp4 T C 2: 59,142,110 (GRCm39) L471P probably damaging Het
Plekhm3 A T 1: 64,977,143 (GRCm39) M109K probably benign Het
Plekhn1 T C 4: 156,318,418 (GRCm39) N68S probably benign Het
Pramel7 T A 2: 87,321,189 (GRCm39) D282V possibly damaging Het
Pxdn T C 12: 30,040,944 (GRCm39) Y407H probably benign Het
Rab3ip T C 10: 116,773,546 (GRCm39) D89G possibly damaging Het
Rad17 G A 13: 100,766,019 (GRCm39) Q370* probably null Het
Robo4 T C 9: 37,322,277 (GRCm39) C751R probably benign Het
Sez6 A G 11: 77,844,356 (GRCm39) T60A probably damaging Het
Socs4 A G 14: 47,527,296 (GRCm39) H77R probably benign Het
Srrm3 T A 5: 135,881,060 (GRCm39) M120K probably benign Het
Steap4 A T 5: 8,028,453 (GRCm39) I344F probably benign Het
Stk36 T A 1: 74,672,725 (GRCm39) F989Y probably damaging Het
Toporsl A T 4: 52,612,108 (GRCm39) Q667L probably benign Het
Tspan17 T C 13: 54,937,466 (GRCm39) F20S probably benign Het
Tubgcp3 G A 8: 12,711,359 (GRCm39) Q65* probably null Het
Ush2a A T 1: 188,465,726 (GRCm39) I2765F probably benign Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wdfy4 A G 14: 32,800,264 (GRCm39) V1954A Het
Xrn2 T A 2: 146,884,017 (GRCm39) probably null Het
Zfp687 C T 3: 94,914,841 (GRCm39) R1220H 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
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
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'- CCTCTGCACACACTCACGTATG -3'
(R):5'- CCGGAAAAGTGCCTTTCCAG -3'

Sequencing Primer
(F):5'- ACGTGCTTTCACTCAATGGGAATC -3'
(R):5'- GATGTTAGTATCACCTCCCAGAGAG -3'
Posted On 2019-10-07