Incidental Mutation 'R8406:Ghrh'
ID 652394
Institutional Source Beutler Lab
Gene Symbol Ghrh
Ensembl Gene ENSMUSG00000027643
Gene Name growth hormone releasing hormone
Synonyms Ghrf
MMRRC Submission 067765-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8406 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 157171417-157189426 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 157175656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 13 (T13S)
Ref Sequence ENSEMBL: ENSMUSP00000029172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029172] [ENSMUST00000109536]
AlphaFold P16043
Predicted Effect probably benign
Transcript: ENSMUST00000029172
AA Change: T13S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000029172
Gene: ENSMUSG00000027643
AA Change: T13S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
GLUCA 31 57 1.04e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109536
AA Change: T13S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000105162
Gene: ENSMUSG00000027643
AA Change: T13S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
GLUCA 31 57 1.04e-8 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,977,343 (GRCm39) F139L probably damaging Het
Adgrg6 A T 10: 14,343,082 (GRCm39) D288E probably benign Het
Agbl1 A G 7: 76,068,415 (GRCm39) E327G Het
Aipl1 T A 11: 71,922,332 (GRCm39) M126L possibly damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Arl3 A T 19: 46,530,823 (GRCm39) S157T probably benign Het
Armc3 A T 2: 19,240,365 (GRCm39) I41F probably damaging Het
Atg9a A C 1: 75,167,028 (GRCm39) Y8D probably damaging Het
Atp10b T G 11: 43,093,984 (GRCm39) H509Q probably benign Het
Cabyr C A 18: 12,883,804 (GRCm39) T97K probably benign Het
Ccdc91 T C 6: 147,438,920 (GRCm39) F174S possibly damaging Het
Cep350 A T 1: 155,798,164 (GRCm39) H1207Q probably benign Het
Clstn3 A T 6: 124,439,136 (GRCm39) N40K probably damaging Het
Col4a4 G A 1: 82,501,611 (GRCm39) P381S unknown Het
Cpne5 A T 17: 29,428,455 (GRCm39) F116Y probably benign Het
Csf2rb2 T C 15: 78,171,216 (GRCm39) T457A probably benign Het
Cyb5d2 T C 11: 72,679,959 (GRCm39) E112G probably benign Het
Cyp2b13 T C 7: 25,781,223 (GRCm39) F212L probably benign Het
Dlx6 T G 6: 6,863,779 (GRCm39) S134A probably benign Het
Egln1 A G 8: 125,638,489 (GRCm39) Y380H probably benign Het
Fbxl13 A T 5: 21,728,652 (GRCm39) I479N probably damaging Het
Fhip1a G T 3: 85,580,027 (GRCm39) P726Q probably benign Het
Fis1 A G 5: 136,991,865 (GRCm39) K20E probably benign Het
Foxk1 G T 5: 142,387,528 (GRCm39) V84L unknown Het
Gdf5 C A 2: 155,784,272 (GRCm39) G227W probably damaging Het
Gnb2 A G 5: 137,526,865 (GRCm39) L308P probably damaging Het
Grik2 A T 10: 49,148,863 (GRCm39) V574D probably damaging Het
Hydin A T 8: 111,336,543 (GRCm39) I5107F possibly damaging Het
Kl A T 5: 150,906,229 (GRCm39) Y533F probably benign Het
Man2b1 G T 8: 85,822,907 (GRCm39) R816L probably damaging Het
Myo5c T C 9: 75,182,823 (GRCm39) Y821H probably damaging Het
Myo7b A T 18: 32,092,866 (GRCm39) C2076S probably damaging Het
Naip6 C T 13: 100,436,784 (GRCm39) A580T possibly damaging Het
Nectin2 A T 7: 19,472,275 (GRCm39) V38E probably damaging Het
Or13a24 A T 7: 140,154,044 (GRCm39) probably benign Het
Osbpl9 T C 4: 108,921,770 (GRCm39) Y536C possibly damaging Het
Pcdh18 T G 3: 49,710,998 (GRCm39) I106L probably damaging Het
Pde4dip T C 3: 97,606,428 (GRCm39) K2149E probably benign Het
Pds5a A T 5: 65,803,681 (GRCm39) C588S probably benign Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pop1 T C 15: 34,529,316 (GRCm39) M812T probably benign Het
Pou2f3 T C 9: 43,051,153 (GRCm39) T178A probably damaging Het
Rab44 C T 17: 29,359,294 (GRCm39) A494V unknown Het
Ros1 G C 10: 51,977,941 (GRCm39) T1456S possibly damaging Het
Rubcnl T G 14: 75,289,425 (GRCm39) F644L probably damaging Het
Saraf C T 8: 34,632,602 (GRCm39) P227L probably benign Het
Sh3glb1 T G 3: 144,397,198 (GRCm39) E383D probably damaging Het
Sh3rf3 T C 10: 58,919,407 (GRCm39) V508A probably damaging Het
Sirt6 A T 10: 81,458,328 (GRCm39) H308Q probably benign Het
Slc29a1 T A 17: 45,900,706 (GRCm39) I119F probably damaging Het
Smtnl1 C T 2: 84,648,742 (GRCm39) E171K probably benign Het
Spg11 T A 2: 121,923,923 (GRCm39) E799D probably damaging Het
Tecpr1 A T 5: 144,137,658 (GRCm39) W894R probably damaging Het
Tiam2 A C 17: 3,558,065 (GRCm39) I1230L possibly damaging Het
Tnfrsf8 A G 4: 145,019,265 (GRCm39) L190P probably damaging Het
Trim35 C T 14: 66,534,724 (GRCm39) T69M possibly damaging Het
Ttll7 T C 3: 146,645,779 (GRCm39) Y546H probably benign Het
Ubash3b C T 9: 40,940,971 (GRCm39) G389R probably damaging Het
Vma21-ps C T 4: 52,497,034 (GRCm39) V71I probably damaging Het
Vmn1r43 T A 6: 89,847,414 (GRCm39) H24L possibly damaging Het
Vps37c T A 19: 10,687,719 (GRCm39) L60Q probably damaging Het
Ythdf2 A G 4: 131,931,946 (GRCm39) W405R probably damaging Het
Zfp775 T C 6: 48,597,637 (GRCm39) C504R probably damaging Het
Zfp82 A G 7: 29,761,652 (GRCm39) probably null Het
Zpr1 T A 9: 46,185,400 (GRCm39) I127N 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
R2922:Ghrh UTSW 2 157,173,797 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- CATGACATCTCAGTAAGGTCCCC -3'
(R):5'- CTTCACTTCTGGTGGGGAAGTC -3'

Sequencing Primer
(F):5'- ACATCTCAGTAAGGTCCCCTTTGTTG -3'
(R):5'- TCAGAGCTGAGGACTGGC -3'
Posted On 2020-10-20