Incidental Mutation 'IGL01542:Sctr'
ID90199
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sctr
Ensembl Gene ENSMUSG00000026387
Gene Namesecretin receptor
Synonyms6530402O03Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL01542
Quality Score
Status
Chromosome1
Chromosomal Location120006894-120063536 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 120044769 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072886] [ENSMUST00000189037]
Predicted Effect probably benign
Transcript: ENSMUST00000072886
SMART Domains Protein: ENSMUSP00000072660
Gene: ENSMUSG00000026387

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 36 53 N/A INTRINSIC
HormR 76 146 5.18e-21 SMART
Pfam:7tm_2 153 398 3.8e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189037
SMART Domains Protein: ENSMUSP00000139932
Gene: ENSMUSG00000026387

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 36 53 N/A INTRINSIC
HormR 61 131 2.59e-21 SMART
Pfam:7tm_2 138 383 1.9e-89 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G protein-coupled receptor and belongs to the glucagon-VIP-secretin receptor family. It binds secretin which is the most potent regulator of pancreatic bicarbonate, electrolyte and volume secretion. Secretin and its receptor are suggested to be involved in pancreatic cancer and autism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show polydipsia, polyuria, decreased urine osmolality, higher serum glucose levels, kidney glomerular and tubular pathology, and impaired renal water reabsorption. Homozygotes for a different null allele show impaired synaptic plasticity and social behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016C15Rik A G 1: 177,743,384 T95A possibly damaging Het
Arap3 G A 18: 37,990,836 R377C probably damaging Het
Arhgap20 A G 9: 51,838,887 M316V probably benign Het
Chd7 T G 4: 8,859,285 N2458K possibly damaging Het
Clock T C 5: 76,231,475 E538G possibly damaging Het
Clpb G A 7: 101,787,505 V596I probably damaging Het
Col9a3 T C 2: 180,609,316 probably benign Het
D130043K22Rik G A 13: 24,876,037 probably null Het
Drd4 T C 7: 141,293,831 probably benign Het
Fam228b A T 12: 4,763,055 I105N probably damaging Het
Gm20939 A T 17: 94,874,293 probably benign Het
Gm4952 A G 19: 12,618,407 T54A possibly damaging Het
Hbs1l T C 10: 21,307,756 V132A probably benign Het
Kpna2 T A 11: 106,991,201 E266D probably benign Het
Lars T C 18: 42,214,827 E977G probably benign Het
Lrrn4 T C 2: 132,879,472 T142A probably benign Het
Myo19 T C 11: 84,909,546 L919P probably damaging Het
Nhlrc1 A T 13: 47,014,131 F217I probably damaging Het
Olfr1495 T C 19: 13,768,537 F65S probably damaging Het
Plch1 T C 3: 63,731,649 I468V probably damaging Het
Rergl T A 6: 139,493,498 probably null Het
Sdhb T C 4: 140,972,967 V126A probably benign Het
Smad3 C T 9: 63,655,586 R214Q probably damaging Het
Tdrd9 T C 12: 112,046,989 M1219T possibly damaging Het
Tmem167b A T 3: 108,558,906 N75K possibly damaging Het
Vmn2r83 T C 10: 79,479,012 S365P probably benign Het
Vps16 T C 2: 130,438,394 F153L probably damaging Het
Other mutations in Sctr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Sctr APN 1 120044720 missense probably damaging 1.00
IGL02798:Sctr APN 1 120022180 missense probably damaging 1.00
IGL02850:Sctr APN 1 120044663 missense possibly damaging 0.95
IGL02850:Sctr APN 1 120022179 missense probably damaging 1.00
IGL03256:Sctr APN 1 120031559 splice site probably benign
PIT4677001:Sctr UTSW 1 120061904 missense probably damaging 1.00
R0018:Sctr UTSW 1 120043556 splice site probably benign
R0166:Sctr UTSW 1 120055394 missense probably damaging 0.97
R1678:Sctr UTSW 1 120036439 critical splice donor site probably null
R1728:Sctr UTSW 1 120031656 missense probably benign 0.00
R1728:Sctr UTSW 1 120063257 missense possibly damaging 0.67
R1729:Sctr UTSW 1 120031656 missense probably benign 0.00
R1729:Sctr UTSW 1 120063246 missense probably benign 0.16
R1729:Sctr UTSW 1 120063257 missense possibly damaging 0.67
R1730:Sctr UTSW 1 120031656 missense probably benign 0.00
R1730:Sctr UTSW 1 120063257 missense possibly damaging 0.67
R1739:Sctr UTSW 1 120031656 missense probably benign 0.00
R1739:Sctr UTSW 1 120063246 missense probably benign 0.16
R1739:Sctr UTSW 1 120063257 missense possibly damaging 0.67
R1762:Sctr UTSW 1 120031656 missense probably benign 0.00
R1762:Sctr UTSW 1 120063246 missense probably benign 0.16
R1762:Sctr UTSW 1 120063257 missense possibly damaging 0.67
R1783:Sctr UTSW 1 120031656 missense probably benign 0.00
R1785:Sctr UTSW 1 120031656 missense probably benign 0.00
R1785:Sctr UTSW 1 120063246 missense probably benign 0.16
R1785:Sctr UTSW 1 120063257 missense possibly damaging 0.67
R2116:Sctr UTSW 1 120031582 missense probably damaging 1.00
R5522:Sctr UTSW 1 120036416 missense probably benign 0.10
R5776:Sctr UTSW 1 120056407 missense probably damaging 1.00
R5781:Sctr UTSW 1 120031620 missense probably damaging 0.99
R6333:Sctr UTSW 1 120056452 missense probably damaging 1.00
R7084:Sctr UTSW 1 120063271 missense possibly damaging 0.77
R7263:Sctr UTSW 1 120022225 missense probably benign
R7265:Sctr UTSW 1 120022225 missense probably benign
R7266:Sctr UTSW 1 120022225 missense probably benign
R7304:Sctr UTSW 1 120022240 missense probably damaging 1.00
R7343:Sctr UTSW 1 120022225 missense probably benign
R8063:Sctr UTSW 1 120063275 missense probably benign 0.09
X0067:Sctr UTSW 1 120007299 missense probably benign
Z1088:Sctr UTSW 1 120036406 frame shift probably null
Z1176:Sctr UTSW 1 120022249 missense probably benign
Posted On2013-12-03