Incidental Mutation 'R5422:Ghrhr'
ID 426633
Institutional Source Beutler Lab
Gene Symbol Ghrhr
Ensembl Gene ENSMUSG00000004654
Gene Name growth hormone releasing hormone receptor
Synonyms Ghrfr
MMRRC Submission 042846-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5422 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 55353280-55365515 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55365188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 394 (H394R)
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: H394R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000068120
Gene: ENSMUSG00000004654
AA Change: H394R

DomainStartEndE-ValueType
HormR 51 121 1.3e-26 SMART
Pfam:7tm_2 126 372 7.2e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203241
SMART Domains Protein: ENSMUSP00000145224
Gene: ENSMUSG00000004654

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 T C 8: 114,425,606 (GRCm39) S1219G probably benign Het
Adgrg5 T A 8: 95,660,580 (GRCm39) I73N probably damaging Het
Agmat C A 4: 141,483,144 (GRCm39) H193N probably damaging Het
Ambn T C 5: 88,612,370 (GRCm39) probably null Het
Atp8b5 T A 4: 43,366,644 (GRCm39) C803S probably benign Het
Btaf1 A T 19: 36,928,507 (GRCm39) R109S probably benign Het
Btnl6 C T 17: 34,733,081 (GRCm39) G261R possibly damaging Het
Clk3 A G 9: 57,672,721 (GRCm39) V27A probably benign Het
Clu A G 14: 66,213,051 (GRCm39) S146G probably damaging Het
Cyp2w1 T C 5: 139,338,528 (GRCm39) F43L probably benign Het
Elf3 C T 1: 135,182,778 (GRCm39) E316K probably damaging Het
Epha5 A T 5: 84,479,349 (GRCm39) D218E probably damaging Het
Ereg T C 5: 91,222,666 (GRCm39) probably null Het
Ewsr1 A G 11: 5,030,668 (GRCm39) probably benign Het
Fat4 A G 3: 38,941,394 (GRCm39) I96V possibly damaging Het
Fgl2 T G 5: 21,580,808 (GRCm39) N383K probably damaging Het
Fkbp11 A T 15: 98,625,989 (GRCm39) probably null Het
Fn3k C A 11: 121,340,948 (GRCm39) P201Q probably damaging Het
Fsip2 A G 2: 82,812,572 (GRCm39) I2964V probably benign Het
Gbx1 C T 5: 24,709,667 (GRCm39) V393I possibly damaging Het
Gch1 C T 14: 47,394,906 (GRCm39) A187T probably damaging Het
Ghdc C A 11: 100,660,020 (GRCm39) K242N probably benign Het
Gje1 G A 10: 14,592,428 (GRCm39) S118L probably damaging Het
Hnrnpa2b1 A T 6: 51,442,208 (GRCm39) S236R probably benign Het
Kcnj5 A G 9: 32,229,001 (GRCm39) Y66H probably benign Het
Kif15 T A 9: 122,813,954 (GRCm39) probably null Het
Magi3 C T 3: 103,958,684 (GRCm39) C467Y probably damaging Het
Map7 G T 10: 20,142,512 (GRCm39) V303F probably damaging Het
Mapk11 A G 15: 89,030,488 (GRCm39) L135P probably damaging Het
Mapkapk5 T A 5: 121,669,785 (GRCm39) probably null Het
Myh7b A C 2: 155,472,954 (GRCm39) Q1405P probably damaging Het
Nalcn A T 14: 123,752,777 (GRCm39) I328N probably damaging Het
Nprl2 C A 9: 107,420,796 (GRCm39) R144S probably benign Het
Ogfr G T 2: 180,237,067 (GRCm39) D551Y possibly damaging Het
Ogfr A T 2: 180,237,068 (GRCm39) D551V probably benign Het
Or6b13 A T 7: 139,782,305 (GRCm39) V126E probably damaging Het
Or8c10 A T 9: 38,279,270 (GRCm39) T143S probably benign Het
Parp14 T C 16: 35,686,545 (GRCm39) K101E probably benign Het
Pcdhb16 A T 18: 37,612,920 (GRCm39) T627S probably damaging Het
Pdzrn4 G A 15: 92,575,502 (GRCm39) G303S probably benign Het
Plcl1 A T 1: 55,736,543 (GRCm39) Y628F probably benign Het
Ptpn9 T A 9: 56,940,441 (GRCm39) W194R probably damaging Het
Ranbp9 A T 13: 43,573,102 (GRCm39) M474K probably benign Het
Rasgef1a T A 6: 118,065,095 (GRCm39) F370Y probably damaging Het
Rassf5 C A 1: 131,108,911 (GRCm39) R218L possibly damaging Het
Scart1 A T 7: 139,804,068 (GRCm39) H422L probably benign Het
Serpine2 C A 1: 79,794,592 (GRCm39) V114L probably benign Het
Serpine2 T C 1: 79,799,206 (GRCm39) Y16C probably benign Het
Sgms1 G T 19: 32,137,232 (GRCm39) N111K probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Tbc1d17 A T 7: 44,498,292 (GRCm39) M1K probably null Het
Tcf12 A T 9: 71,776,320 (GRCm39) H403Q probably damaging Het
Thoc2l T C 5: 104,667,512 (GRCm39) I678T probably damaging Het
Thsd7b T C 1: 129,849,071 (GRCm39) S928P probably benign Het
Tjp1 A T 7: 64,952,715 (GRCm39) F1540I probably damaging Het
Tph2 T A 10: 114,915,669 (GRCm39) D457V possibly damaging Het
Usp9y T C Y: 1,314,676 (GRCm39) I2112V probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Zfp335 T C 2: 164,749,650 (GRCm39) K249R probably damaging Het
Zfp54 C A 17: 21,654,788 (GRCm39) S427R probably benign Het
Zfp607b A G 7: 27,401,813 (GRCm39) T90A 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
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
R7632:Ghrhr UTSW 6 55,361,727 (GRCm39) missense probably benign 0.26
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'- TGGTCTCAGACAAAGGCTGG -3'
(R):5'- TCGAAGGTTGATATACGGGGAC -3'

Sequencing Primer
(F):5'- AGAGTAGTAGTGCCTGTACCTCAC -3'
(R):5'- ACCTGGAGAAAGCAGATGC -3'
Posted On 2016-09-01