Incidental Mutation 'R7046:Ghrl'
ID 547313
Institutional Source Beutler Lab
Gene Symbol Ghrl
Ensembl Gene ENSMUSG00000064177
Gene Name ghrelin
Synonyms 2210006E23Rik, Ghr, MTLRP, m46, MTLRPAP
MMRRC Submission 045144-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R7046 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 113693080-113696841 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113696344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 16 (L16P)
Ref Sequence ENSEMBL: ENSMUSP00000145096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064993] [ENSMUST00000203363] [ENSMUST00000203588] [ENSMUST00000203770] [ENSMUST00000204163] [ENSMUST00000204533]
AlphaFold Q9EQX0
Predicted Effect probably damaging
Transcript: ENSMUST00000064993
AA Change: L16P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069567
Gene: ENSMUSG00000064177
AA Change: L16P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Motilin_ghrelin 24 51 2.7e-15 PFAM
Pfam:Motilin_assoc 57 115 1.1e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203363
AA Change: L16P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145366
Gene: ENSMUSG00000064177
AA Change: L16P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Motilin_ghrelin 24 51 1.4e-15 PFAM
low complexity region 66 73 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000203588
AA Change: L16P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145514
Gene: ENSMUSG00000064177
AA Change: L16P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Motilin_assoc 29 76 1e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203770
AA Change: L16P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145281
Gene: ENSMUSG00000064177
AA Change: L16P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Motilin_ghrelin 24 51 2.7e-15 PFAM
Pfam:Motilin_assoc 57 115 1.1e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204163
AA Change: L16P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145096
Gene: ENSMUSG00000064177
AA Change: L16P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Motilin_ghrelin 24 50 4e-14 PFAM
Pfam:Motilin_assoc 56 114 1.1e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204533
SMART Domains Protein: ENSMUSP00000145046
Gene: ENSMUSG00000064177

DomainStartEndE-ValueType
Pfam:Motilin_assoc 3 52 2.9e-25 PFAM
Meta Mutation Damage Score 0.5831 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: This gene encodes a preproprotein that undergoes proteolytic processing to yield two bioactive peptides, ghrelin and obestatin. The hormone ghrelin plays a role in enhancing appetite and has numerous other biological functions that include stimulating the secretion of growth hormone (somatotropin) from the anterior pituitary gland. Obestatin is thought to be a hormone that functions in decreasing appetite. Mice lacking the encoded protein develop normally and exhibit no gross anatomical abnormalities. This gene encodes distinct isoforms, some or all of which may undergo similar proteolytic processing. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for most disruptions in this gene display no phenotypic abnormalities on a regular diet and increased utilization of fat as an energy substrate on a high fat diet. Mice homozygous for one allele display age-dependent changes in stimulated food intake and metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,772,364 (GRCm39) Y805C probably damaging Het
Aoc1l3 T A 6: 48,964,512 (GRCm39) D173E probably benign Het
Cabp7 T A 11: 4,688,886 (GRCm39) I195F probably damaging Het
Camsap1 T C 2: 25,835,201 (GRCm39) N317S probably damaging Het
Ccdc127 T G 13: 74,500,994 (GRCm39) L4V probably damaging Het
Ccdc7a T C 8: 129,774,100 (GRCm39) E145G probably damaging Het
Cdh10 T A 15: 19,013,287 (GRCm39) V629D probably damaging Het
Cdh23 A C 10: 60,214,530 (GRCm39) L1497R probably damaging Het
Chsy3 A G 18: 59,542,875 (GRCm39) K671R probably benign Het
Clca4b T C 3: 144,621,367 (GRCm39) Y569C probably damaging Het
Cnga1 T C 5: 72,786,696 (GRCm39) probably benign Het
Cyp51 T A 5: 4,150,188 (GRCm39) E178D probably damaging Het
Defa30 T A 8: 21,625,471 (GRCm39) N78K probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dnah14 G T 1: 181,450,568 (GRCm39) C727F probably benign Het
Egf A T 3: 129,548,607 (GRCm39) W3R unknown Het
Egfem1 G A 3: 29,136,364 (GRCm39) probably null Het
Epb41l1 G T 2: 156,368,812 (GRCm39) V682L possibly damaging Het
Etv1 A G 12: 38,834,369 (GRCm39) probably null Het
Faap100 A G 11: 120,268,200 (GRCm39) F191S possibly damaging Het
Fmo1 T A 1: 162,667,263 (GRCm39) D184V possibly damaging Het
Gria4 T A 9: 4,420,278 (GRCm39) L861F probably damaging Het
Gsr T A 8: 34,185,090 (GRCm39) M428K probably damaging Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Kbtbd12 A G 6: 88,595,497 (GRCm39) M111T possibly damaging Het
Krtap21-1 G T 16: 89,200,623 (GRCm39) Y6* probably null Het
Lin9 A G 1: 180,494,935 (GRCm39) D219G probably damaging Het
Lrrc38 A G 4: 143,076,739 (GRCm39) M1V probably null Het
Macc1 T G 12: 119,410,773 (GRCm39) F514V probably benign Het
Madcam1 C T 10: 79,504,139 (GRCm39) R242C probably benign Het
Mfhas1 T C 8: 36,131,944 (GRCm39) S1037P probably benign Het
Micall2 C T 5: 139,694,699 (GRCm39) probably benign Het
Mtr C A 13: 12,205,095 (GRCm39) A1122S possibly damaging Het
Muc6 T A 7: 141,226,456 (GRCm39) probably benign Het
Myh15 T A 16: 48,929,662 (GRCm39) C529* probably null Het
Napsa T C 7: 44,234,509 (GRCm39) V247A probably damaging Het
Nr2c2 A G 6: 92,135,338 (GRCm39) T309A probably damaging Het
Or1e26 A T 11: 73,480,558 (GRCm39) I2K probably benign Het
Or1q1 T A 2: 36,887,173 (GRCm39) V117E probably benign Het
Or2n1b A T 17: 38,459,691 (GRCm39) M71L probably benign Het
Osgepl1 A T 1: 53,360,710 (GRCm39) I384F possibly damaging Het
Otud4 C T 8: 80,377,671 (GRCm39) L111F possibly damaging Het
Pds5b A G 5: 150,673,385 (GRCm39) Y481C probably damaging Het
Pdzrn4 T A 15: 92,668,303 (GRCm39) Y818* probably null Het
Pin1rt1 T C 2: 104,544,767 (GRCm39) S122G probably benign Het
Pkdcc A T 17: 83,531,687 (GRCm39) Y487F probably damaging Het
Plxna4 C T 6: 32,493,440 (GRCm39) C392Y probably damaging Het
Psd4 T G 2: 24,284,985 (GRCm39) M283R probably benign Het
Ralgds G T 2: 28,430,741 (GRCm39) G68W probably damaging Het
Rmdn2 T A 17: 79,928,808 (GRCm39) I20N probably damaging Het
Sestd1 A G 2: 77,022,910 (GRCm39) V486A probably benign Het
Skic8 T A 9: 54,626,539 (GRCm39) D275V probably damaging Het
Spmap2 G T 10: 79,422,796 (GRCm39) D35E probably benign Het
Tango6 A G 8: 107,533,748 (GRCm39) H958R possibly damaging Het
Taok3 C T 5: 117,411,771 (GRCm39) R857C probably damaging Het
Tasor A T 14: 27,194,392 (GRCm39) L1197F probably damaging Het
Trio T C 15: 27,832,137 (GRCm39) E1245G probably damaging Het
Usp19 C T 9: 108,374,334 (GRCm39) H763Y possibly damaging Het
Vmn1r185 A G 7: 26,310,651 (GRCm39) S285P probably damaging Het
Vmn1r45 T G 6: 89,910,538 (GRCm39) Y144S probably benign Het
Vwa3b G A 1: 37,212,959 (GRCm39) E152K probably benign Het
Xrcc5 G A 1: 72,433,875 (GRCm39) M731I probably benign Het
Zfp619 G A 7: 39,186,787 (GRCm39) S939N possibly damaging Het
Zfp874a C A 13: 67,590,418 (GRCm39) C422F probably damaging Het
Zfp948 A G 17: 21,808,719 (GRCm39) D637G possibly damaging Het
Other mutations in Ghrl
AlleleSourceChrCoordTypePredicted EffectPPH Score
indisputable UTSW 6 113,696,344 (GRCm39) missense probably damaging 1.00
R0128:Ghrl UTSW 6 113,694,129 (GRCm39) splice site probably benign
R0391:Ghrl UTSW 6 113,696,299 (GRCm39) missense probably damaging 0.98
R4925:Ghrl UTSW 6 113,693,218 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAAGAACATGCTGGTGCCTGG -3'
(R):5'- AAGAGAGCCTTGCTTCGTCC -3'

Sequencing Primer
(F):5'- AGCCTTCCAGAGCTCGTG -3'
(R):5'- GTCCAGCAGTCCTTACTTCTAGAAG -3'
Posted On 2019-05-13