Incidental Mutation 'R7632:Ghrhr'
ID 589686
Institutional Source Beutler Lab
Gene Symbol Ghrhr
Ensembl Gene ENSMUSG00000004654
Gene Name growth hormone releasing hormone receptor
Synonyms Ghrfr
MMRRC Submission 045720-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7632 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 55353280-55365515 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 55361727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 298 (G298V)
Ref Sequence ENSEMBL: ENSMUSP00000068120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063578] [ENSMUST00000203241]
AlphaFold P32082
Predicted Effect probably benign
Transcript: ENSMUST00000063578
AA Change: G298V

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000068120
Gene: ENSMUSG00000004654
AA Change: G298V

DomainStartEndE-ValueType
HormR 51 121 1.3e-26 SMART
Pfam:7tm_2 126 372 7.2e-76 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203241
AA Change: G298V

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145224
Gene: ENSMUSG00000004654
AA Change: G298V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
HormR 51 121 8.4e-29 SMART
Pfam:7tm_2 126 374 8.7e-59 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 95% (63/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygotes for a spontaneous null mutation exhibit reduced growth from 2 weeks of age, impaired growth hormone synthesis and release, obesity, decreased bone mass, reduced fertility in males, impaired first lactations, and extended life span. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2a2 A G 7: 141,211,236 (GRCm39) D924G probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atrnl1 A G 19: 57,618,738 (GRCm39) D152G probably damaging Het
B3gnt8 A G 7: 25,327,860 (GRCm39) I97V possibly damaging Het
Bach1 A G 16: 87,517,031 (GRCm39) D524G probably benign Het
Caprin2 T C 6: 148,784,954 (GRCm39) S107G probably damaging Het
Ccnb1 A G 13: 100,918,209 (GRCm39) I207T probably benign Het
Cdh11 T C 8: 103,400,515 (GRCm39) D151G probably damaging Het
Cdh9 A G 15: 16,851,115 (GRCm39) probably null Het
Cep83 A T 10: 94,586,502 (GRCm39) R433W probably damaging Het
Cspg4b C A 13: 113,457,420 (GRCm39) S1155R Het
D3Ertd751e A G 3: 41,708,163 (GRCm39) E100G probably benign Het
Dchs2 C T 3: 83,255,357 (GRCm39) A2351V probably benign Het
Dhx40 T C 11: 86,690,263 (GRCm39) T253A probably benign Het
Dqx1 A G 6: 83,036,680 (GRCm39) D228G probably benign Het
Dync1h1 T C 12: 110,627,327 (GRCm39) M4002T probably benign Het
Flcn C T 11: 59,686,625 (GRCm39) W376* probably null Het
Flnc A T 6: 29,446,984 (GRCm39) Y1037F probably damaging Het
Fut11 T A 14: 20,745,096 (GRCm39) V9E probably benign Het
Fv1 T A 4: 147,954,392 (GRCm39) N319K possibly damaging Het
Gm5800 T A 14: 51,953,905 (GRCm39) probably null Het
Grin2b A G 6: 135,709,553 (GRCm39) M1331T probably benign Het
Hyou1 A G 9: 44,292,433 (GRCm39) probably null Het
Igkv1-117 C A 6: 68,098,792 (GRCm39) Q114K probably damaging Het
Igkv4-68 A G 6: 69,282,048 (GRCm39) V41A possibly damaging Het
Inpp4b A G 8: 82,772,968 (GRCm39) N754S probably damaging Het
Isl2 G A 9: 55,448,440 (GRCm39) probably null Het
Kat2a G A 11: 100,599,422 (GRCm39) Q523* probably null Het
Lypd3 T C 7: 24,337,865 (GRCm39) F77S possibly damaging Het
Map4k2 T C 19: 6,394,084 (GRCm39) L297P probably benign Het
Naca T C 10: 127,876,375 (GRCm39) V469A unknown Het
Notch3 C T 17: 32,377,480 (GRCm39) V199I probably benign Het
Or4k44 T C 2: 111,368,521 (GRCm39) I38V possibly damaging Het
Or5b119 T C 19: 13,456,795 (GRCm39) M256V possibly damaging Het
Pabpc1 TGTACCTGTTGCATGGTA TGTA 15: 36,598,212 (GRCm39) probably null Het
Pcdhb8 A T 18: 37,488,648 (GRCm39) I109L probably benign Het
Pde2a A G 7: 101,133,801 (GRCm39) D104G possibly damaging Het
Phip A G 9: 82,785,243 (GRCm39) V824A probably benign Het
Plekhg4 T C 8: 106,106,782 (GRCm39) Y853H probably damaging Het
Plod1 T C 4: 148,011,481 (GRCm39) K248R probably damaging Het
Plxnd1 A T 6: 115,953,600 (GRCm39) Y656N probably benign Het
Pogz G A 3: 94,763,517 (GRCm39) probably null Het
Ppp1r3e T A 14: 55,114,526 (GRCm39) S79C probably damaging Het
Pprc1 T A 19: 46,060,721 (GRCm39) D1595E probably damaging Het
Ptprq A G 10: 107,547,783 (GRCm39) V205A probably benign Het
Rad51ap2 T C 12: 11,507,116 (GRCm39) V346A possibly damaging Het
Rgs12 T A 5: 35,122,934 (GRCm39) L239H probably damaging Het
Rrp8 T C 7: 105,385,727 (GRCm39) probably benign Het
Rsf1 GGCG GGCGACCGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Scaf1 A T 7: 44,656,503 (GRCm39) V792D unknown Het
Scrn2 G T 11: 96,923,968 (GRCm39) R284L possibly damaging Het
Sgsm1 T A 5: 113,423,948 (GRCm39) Q461L possibly damaging Het
Slc18b1 A G 10: 23,702,080 (GRCm39) T434A probably benign Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Smc4 CTA CTATA 3: 68,925,400 (GRCm39) probably benign Het
Snx33 A T 9: 56,833,702 (GRCm39) D122E probably damaging Het
Srebf2 G T 15: 82,069,497 (GRCm39) V680L probably benign Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Tecpr1 C T 5: 144,155,544 (GRCm39) V5M probably benign Het
Tfg A G 16: 56,532,997 (GRCm39) V54A possibly damaging Het
Tmem237 C T 1: 59,156,060 (GRCm39) C30Y probably benign Het
Tmem245 T C 4: 56,916,787 (GRCm39) K444R probably benign Het
Trim25 T G 11: 88,906,602 (GRCm39) L446R probably null Het
Usp37 T C 1: 74,507,533 (GRCm39) T495A probably benign Het
Vmn1r94 T G 7: 19,901,696 (GRCm39) T203P probably damaging Het
Ywhah T A 5: 33,184,010 (GRCm39) M71K probably benign Het
Other mutations in Ghrhr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00650:Ghrhr APN 6 55,356,110 (GRCm39) missense probably benign 0.00
IGL01088:Ghrhr APN 6 55,356,178 (GRCm39) critical splice donor site probably null
IGL01567:Ghrhr APN 6 55,361,108 (GRCm39) missense probably damaging 1.00
IGL02351:Ghrhr APN 6 55,361,138 (GRCm39) missense probably damaging 1.00
IGL02358:Ghrhr APN 6 55,361,138 (GRCm39) missense probably damaging 1.00
IGL02588:Ghrhr APN 6 55,360,395 (GRCm39) missense probably damaging 1.00
IGL03010:Ghrhr APN 6 55,361,742 (GRCm39) missense probably damaging 1.00
R0068:Ghrhr UTSW 6 55,357,849 (GRCm39) splice site probably benign
R0068:Ghrhr UTSW 6 55,357,849 (GRCm39) splice site probably benign
R0234:Ghrhr UTSW 6 55,356,171 (GRCm39) missense possibly damaging 0.47
R0234:Ghrhr UTSW 6 55,356,171 (GRCm39) missense possibly damaging 0.47
R1173:Ghrhr UTSW 6 55,365,254 (GRCm39) nonsense probably null
R1174:Ghrhr UTSW 6 55,365,254 (GRCm39) nonsense probably null
R1175:Ghrhr UTSW 6 55,365,254 (GRCm39) nonsense probably null
R1613:Ghrhr UTSW 6 55,356,682 (GRCm39) missense probably damaging 0.99
R2196:Ghrhr UTSW 6 55,356,726 (GRCm39) missense probably damaging 1.00
R2232:Ghrhr UTSW 6 55,362,444 (GRCm39) missense probably damaging 1.00
R3764:Ghrhr UTSW 6 55,357,756 (GRCm39) missense probably damaging 0.98
R4618:Ghrhr UTSW 6 55,358,739 (GRCm39) missense probably damaging 1.00
R4837:Ghrhr UTSW 6 55,365,172 (GRCm39) missense probably damaging 1.00
R5422:Ghrhr UTSW 6 55,365,188 (GRCm39) missense probably benign 0.00
R6199:Ghrhr UTSW 6 55,356,173 (GRCm39) missense probably benign 0.03
R6915:Ghrhr UTSW 6 55,360,104 (GRCm39) splice site probably null
R7966:Ghrhr UTSW 6 55,356,083 (GRCm39) missense probably damaging 1.00
R8874:Ghrhr UTSW 6 55,355,891 (GRCm39) missense probably benign
R9594:Ghrhr UTSW 6 55,362,470 (GRCm39) missense probably benign 0.00
R9608:Ghrhr UTSW 6 55,357,786 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AGACCTGGCTCTCTCATCTG -3'
(R):5'- AAGTGCTTTCCATGATGGTTCTC -3'

Sequencing Primer
(F):5'- CATCTGTTTTTGCCAGGGC -3'
(R):5'- TGGTTCTCCAGATACATACCACAC -3'
Posted On 2019-10-24