Incidental Mutation 'R2922:Ghrh'
ID 255560
Institutional Source Beutler Lab
Gene Symbol Ghrh
Ensembl Gene ENSMUSG00000027643
Gene Name growth hormone releasing hormone
Synonyms Ghrf
MMRRC Submission 040507-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2922 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 157171417-157189426 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 157173797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029172] [ENSMUST00000109536]
AlphaFold P16043
Predicted Effect probably null
Transcript: ENSMUST00000029172
SMART Domains Protein: ENSMUSP00000029172
Gene: ENSMUSG00000027643

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
GLUCA 31 57 1.04e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000109536
SMART Domains Protein: ENSMUSP00000105162
Gene: ENSMUSG00000027643

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
GLUCA 31 57 1.04e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126630
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (43/43)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 90,009,393 (GRCm39) D90G possibly damaging Het
Atp6v0a2 C T 5: 124,794,981 (GRCm39) T656M possibly damaging Het
Baz2a AGCGGCGGTACTTGCGGG AG 10: 127,960,946 (GRCm39) probably null Het
Bsn C T 9: 107,985,385 (GRCm39) V2890M unknown Het
Bsn T C 9: 107,992,668 (GRCm39) E1028G probably damaging Het
Ccdc116 T C 16: 16,960,307 (GRCm39) H170R probably benign Het
Cdk11b CAGAAGAAG CAGAAG 4: 155,725,201 (GRCm39) probably benign Het
Cemip2 A G 19: 21,795,303 (GRCm39) D732G possibly damaging Het
Clpb A G 7: 101,372,035 (GRCm39) D257G probably benign Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dlgap5 A G 14: 47,627,898 (GRCm39) probably null Het
Dmwd T C 7: 18,810,270 (GRCm39) F26L probably damaging Het
Eif5b T C 1: 38,057,100 (GRCm39) probably benign Het
Flii A G 11: 60,609,742 (GRCm39) Y622H probably damaging Het
Gbp7 A T 3: 142,240,333 (GRCm39) E17V probably benign Het
Gm20939 T A 17: 95,184,721 (GRCm39) H456Q probably damaging Het
Golga4 T A 9: 118,388,411 (GRCm39) S1844R possibly damaging Het
Hgd T C 16: 37,439,330 (GRCm39) F213L probably damaging Het
Hoxb1 T C 11: 96,257,119 (GRCm39) L156P probably benign Het
Itga11 A G 9: 62,675,912 (GRCm39) probably benign Het
Kcnn3 T C 3: 89,428,329 (GRCm39) V185A probably damaging Het
Lrriq1 T C 10: 103,050,536 (GRCm39) T739A probably benign Het
Mib1 C T 18: 10,760,831 (GRCm39) Q374* probably null Het
Myh9 A G 15: 77,697,384 (GRCm39) L10P probably damaging Het
Ncor2 A G 5: 125,132,855 (GRCm39) F44S probably damaging Het
Nr3c1 C A 18: 39,620,156 (GRCm39) A44S possibly damaging Het
Or10n1 G A 9: 39,525,060 (GRCm39) V66I probably benign Het
Or51a43 A G 7: 103,717,794 (GRCm39) V148A probably benign Het
Ovch2 A G 7: 107,389,596 (GRCm39) L317P possibly damaging Het
Pcolce2 T A 9: 95,576,767 (GRCm39) L346Q probably damaging Het
Rdm1 T A 11: 101,521,716 (GRCm39) L157H possibly damaging Het
Rptn A G 3: 93,306,015 (GRCm39) Y1116C possibly damaging Het
Scn7a A G 2: 66,530,551 (GRCm39) probably benign Het
Slc24a2 A G 4: 86,909,591 (GRCm39) V660A possibly damaging Het
Tet3 A G 6: 83,345,494 (GRCm39) S1648P probably damaging Het
Tmem198b G A 10: 128,638,062 (GRCm39) T167I probably damaging Het
Tmx1 T A 12: 70,512,895 (GRCm39) C268S probably benign Het
Ubr4 A G 4: 139,206,811 (GRCm39) N4886S possibly damaging Het
Usp47 A G 7: 111,692,405 (GRCm39) S956G probably damaging Het
Vmn2r60 T A 7: 41,790,459 (GRCm39) V482E probably damaging Het
Zfhx4 C T 3: 5,468,724 (GRCm39) P2986S probably damaging Het
Zfp507 T C 7: 35,494,224 (GRCm39) E273G probably damaging Het
Other mutations in Ghrh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Ghrh APN 2 157,175,389 (GRCm39) missense probably benign 0.00
R1969:Ghrh UTSW 2 157,175,386 (GRCm39) missense probably benign 0.06
R8406:Ghrh UTSW 2 157,175,656 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TTGCTTGGAAGACTAGGCCC -3'
(R):5'- ACAAATTTATCCGGTTACTGGTGG -3'

Sequencing Primer
(F):5'- GGCCTGATCTACAAAGTGAGTTCC -3'
(R):5'- CCGGTTACTGGTGGATAATAAATTG -3'
Posted On 2014-12-29