Incidental Mutation 'IGL00671:Ghrh'
ID 13495
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ghrh
Ensembl Gene ENSMUSG00000027643
Gene Name growth hormone releasing hormone
Synonyms Ghrf
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00671
Quality Score
Status
Chromosome 2
Chromosomal Location 157171417-157189426 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 157175389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 31 (H31Y)
Ref Sequence ENSEMBL: ENSMUSP00000105162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029172] [ENSMUST00000109536]
AlphaFold P16043
Predicted Effect probably benign
Transcript: ENSMUST00000029172
AA Change: H31Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000029172
Gene: ENSMUSG00000027643
AA Change: H31Y

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
GLUCA 31 57 1.04e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109536
AA Change: H31Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000105162
Gene: ENSMUSG00000027643
AA Change: H31Y

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
GLUCA 31 57 1.04e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126630
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a hormone that has stimulatory effects on pituitary growth hormone synthesis and release, and somatotrope expansion. The encoded preproprotein undergoes proteolytic processing to generate the mature peptide that is secreted by hypothalamus. Mice lacking the encoded protein are deficient in the growth hormone, live longer and exhibit growth retardation, enhanced insulin sensitivity and increased xenobiotic metabolism. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygoous for a knock-out allele exhibit postnatal growth retardation, decreased body weight and body length, reduced IGF-I production and serum IGF-I levels, pituitary hypoplasia, decreased growth hormone level, and decreased litter size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,980,745 (GRCm39) R576* probably null Het
Astl T C 2: 127,185,941 (GRCm39) probably null Het
Atp6v1h T C 1: 5,194,694 (GRCm39) probably null Het
Avpr1a A T 10: 122,285,256 (GRCm39) I183L probably benign Het
Cep83 A G 10: 94,625,626 (GRCm39) T679A possibly damaging Het
Dennd1b A T 1: 139,061,475 (GRCm39) I386F possibly damaging Het
Dnaaf6rt G A 1: 31,262,053 (GRCm39) V12I probably benign Het
Ect2 T C 3: 27,192,818 (GRCm39) N344S probably benign Het
Gpc6 A T 14: 117,424,199 (GRCm39) T96S probably benign Het
Man2b1 A C 8: 85,820,567 (GRCm39) D618A probably damaging Het
Myh2 A G 11: 67,084,183 (GRCm39) E1602G probably damaging Het
Myo16 T A 8: 10,411,067 (GRCm39) I175N probably damaging Het
Oga C A 19: 45,753,979 (GRCm39) A632S possibly damaging Het
Otof C T 5: 30,543,097 (GRCm39) probably null Het
Otop2 A G 11: 115,222,735 (GRCm39) N539S probably damaging Het
Ralbp1 T A 17: 66,171,607 (GRCm39) E122V possibly damaging Het
Spata31e2 A T 1: 26,723,940 (GRCm39) S413R possibly damaging Het
Tcf12 T A 9: 71,775,400 (GRCm39) N450I probably damaging Het
Tle3 T A 9: 61,319,652 (GRCm39) N492K probably damaging Het
Ttll8 T C 15: 88,798,356 (GRCm39) D793G probably benign Het
Uggt2 T C 14: 119,280,211 (GRCm39) T756A possibly damaging Het
Zfand1 T C 3: 10,411,084 (GRCm39) H96R probably damaging Het
Zfp617 C T 8: 72,686,386 (GRCm39) R239* probably null Het
Zmpste24 A G 4: 120,940,012 (GRCm39) probably benign Het
Other mutations in Ghrh
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1969:Ghrh UTSW 2 157,175,386 (GRCm39) missense probably benign 0.06
R2922:Ghrh UTSW 2 157,173,797 (GRCm39) splice site probably null
R8406:Ghrh UTSW 2 157,175,656 (GRCm39) missense probably benign 0.05
Posted On 2012-12-06