Incidental Mutation 'R6843:Ghsr'
ID 534609
Institutional Source Beutler Lab
Gene Symbol Ghsr
Ensembl Gene ENSMUSG00000051136
Gene Name growth hormone secretagogue receptor
Synonyms C530020I22Rik, Ghsr1a
MMRRC Submission 044949-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6843 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 27425500-27432159 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 27426676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 244 (D244A)
Ref Sequence ENSEMBL: ENSMUSP00000061153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057186]
AlphaFold Q99P50
Predicted Effect probably benign
Transcript: ENSMUST00000057186
AA Change: D244A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000061153
Gene: ENSMUSG00000051136
AA Change: D244A

DomainStartEndE-ValueType
low complexity region 33 43 N/A INTRINSIC
Pfam:7TM_GPCR_Srw 47 339 5.8e-12 PFAM
Pfam:7TM_GPCR_Srsx 53 336 9.4e-8 PFAM
Pfam:7tm_1 59 321 7.9e-51 PFAM
Pfam:7TM_GPCR_Srv 61 338 4.8e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]
PHENOTYPE: Homeostasis is disrupted by inactivation of this gene, namely growth hormone release and appetite stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,615,360 (GRCm39) Q78L probably benign Het
Akr1c21 A G 13: 4,625,213 (GRCm39) H48R probably damaging Het
Anks1b T A 10: 90,784,460 (GRCm39) S1143T probably damaging Het
Apip T G 2: 102,922,834 (GRCm39) F217L probably benign Het
Ash1l T A 3: 88,892,695 (GRCm39) Y1525N probably damaging Het
Bcl2l13 G A 6: 120,825,578 (GRCm39) probably null Het
Cep85 C G 4: 133,883,167 (GRCm39) A241P probably benign Het
Clk4 T G 11: 51,167,076 (GRCm39) probably null Het
Cnr2 C T 4: 135,644,900 (GRCm39) P326L probably benign Het
Cryaa A G 17: 31,897,147 (GRCm39) D58G possibly damaging Het
Crybg3 G A 16: 59,380,159 (GRCm39) T365M probably benign Het
Csmd2 A G 4: 128,357,587 (GRCm39) N1683D probably benign Het
Dbx2 T G 15: 95,552,340 (GRCm39) I102L possibly damaging Het
Dll4 A T 2: 119,156,475 (GRCm39) probably benign Het
Epb42 T A 2: 120,858,166 (GRCm39) Y264F possibly damaging Het
Exoc3l T A 8: 106,016,729 (GRCm39) H695L probably benign Het
Fhip1a G A 3: 85,580,352 (GRCm39) P618S probably damaging Het
Gm9195 A G 14: 72,678,651 (GRCm39) Y2268H possibly damaging Het
Hdac1 A G 4: 129,436,383 (GRCm39) Y14H probably damaging Het
Hdac3 A T 18: 38,075,007 (GRCm39) Y282N probably benign Het
Heg1 T A 16: 33,539,896 (GRCm39) N285K probably benign Het
Igkv4-90 A G 6: 68,784,670 (GRCm39) F8S possibly damaging Het
Map2k1 A T 9: 64,094,973 (GRCm39) D336E probably damaging Het
Map4k2 A T 19: 6,403,477 (GRCm39) I796F probably damaging Het
Mapk13 T A 17: 28,994,427 (GRCm39) probably null Het
Mprip A G 11: 59,650,554 (GRCm39) I1419M possibly damaging Het
Nrap T C 19: 56,368,651 (GRCm39) E255G probably damaging Het
Oprl1 A G 2: 181,357,547 (GRCm39) E11G probably damaging Het
Or1i2 T C 10: 78,447,891 (GRCm39) N195D probably damaging Het
Or4f14 T C 2: 111,743,260 (GRCm39) N5S probably damaging Het
Or52b3 A G 7: 102,203,928 (GRCm39) I146V probably benign Het
Or5b99 G T 19: 12,976,362 (GRCm39) C4F probably benign Het
Or6c209 A G 10: 129,483,048 (GRCm39) D17G possibly damaging Het
Palmd T A 3: 116,717,864 (GRCm39) D211V probably damaging Het
Pcdhga11 A G 18: 37,889,378 (GRCm39) N129D probably damaging Het
Plekha6 T A 1: 133,202,616 (GRCm39) M359K probably damaging Het
Plekha7 G T 7: 115,742,555 (GRCm39) H756Q probably benign Het
Ppfibp2 C T 7: 107,326,938 (GRCm39) P441S probably benign Het
Ptprk T C 10: 28,467,978 (GRCm39) I1373T possibly damaging Het
Serpinb9g G T 13: 33,676,900 (GRCm39) L227F probably damaging Het
Snapc4 C A 2: 26,263,611 (GRCm39) A11S probably benign Het
Sqor T C 2: 122,626,900 (GRCm39) V7A probably benign Het
Sqor G T 2: 122,651,215 (GRCm39) G437V probably damaging Het
Srrm3 T C 5: 135,881,135 (GRCm39) V145A probably benign Het
Stx1b G A 7: 127,414,151 (GRCm39) Q72* probably null Het
Syt7 A G 19: 10,399,135 (GRCm39) D77G probably damaging Het
Tvp23a G A 16: 10,264,884 (GRCm39) A9V probably benign Het
Vmn1r66 T A 7: 10,008,692 (GRCm39) I114F probably damaging Het
Vmn2r80 C A 10: 79,005,502 (GRCm39) Q380K probably benign Het
Xdh C T 17: 74,230,125 (GRCm39) E269K probably damaging Het
Zfp932 T C 5: 110,156,581 (GRCm39) M92T probably benign Het
Other mutations in Ghsr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Ghsr APN 3 27,429,022 (GRCm39) missense possibly damaging 0.92
IGL00435:Ghsr APN 3 27,426,532 (GRCm39) missense possibly damaging 0.91
IGL01376:Ghsr APN 3 27,425,977 (GRCm39) missense probably benign
IGL02444:Ghsr APN 3 27,426,189 (GRCm39) missense probably benign 0.17
IGL02650:Ghsr APN 3 27,429,004 (GRCm39) missense probably benign 0.29
IGL02754:Ghsr APN 3 27,426,645 (GRCm39) missense probably damaging 1.00
R0571:Ghsr UTSW 3 27,426,165 (GRCm39) missense probably damaging 1.00
R0825:Ghsr UTSW 3 27,428,776 (GRCm39) missense probably damaging 0.99
R1036:Ghsr UTSW 3 27,428,869 (GRCm39) missense probably damaging 0.98
R1462:Ghsr UTSW 3 27,426,025 (GRCm39) missense probably benign 0.01
R1462:Ghsr UTSW 3 27,426,025 (GRCm39) missense probably benign 0.01
R1529:Ghsr UTSW 3 27,426,631 (GRCm39) missense probably damaging 1.00
R1598:Ghsr UTSW 3 27,426,426 (GRCm39) missense probably benign 0.27
R4846:Ghsr UTSW 3 27,425,986 (GRCm39) missense probably benign
R4951:Ghsr UTSW 3 27,426,510 (GRCm39) missense possibly damaging 0.83
R4993:Ghsr UTSW 3 27,426,403 (GRCm39) missense possibly damaging 0.87
R5055:Ghsr UTSW 3 27,426,421 (GRCm39) missense probably benign 0.28
R6936:Ghsr UTSW 3 27,426,474 (GRCm39) missense probably benign 0.02
R7068:Ghsr UTSW 3 27,425,986 (GRCm39) missense probably benign 0.01
R7318:Ghsr UTSW 3 27,426,616 (GRCm39) missense possibly damaging 0.91
R7510:Ghsr UTSW 3 27,426,523 (GRCm39) missense probably benign 0.05
R7889:Ghsr UTSW 3 27,426,315 (GRCm39) missense probably benign 0.00
R9514:Ghsr UTSW 3 27,426,630 (GRCm39) missense possibly damaging 0.77
R9571:Ghsr UTSW 3 27,426,664 (GRCm39) missense probably benign 0.00
R9741:Ghsr UTSW 3 27,428,898 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- CATCCTTGTCATTTGGGCCG -3'
(R):5'- TTTTCGTGGAGAAGATACAGGGAC -3'

Sequencing Primer
(F):5'- CCCATCTTCGTGCTGGTGG -3'
(R):5'- CCCGAAAGCAGTGAGACCAAG -3'
Posted On 2018-09-12