Incidental Mutation 'R9110:Sct'
ID 692200
Institutional Source Beutler Lab
Gene Symbol Sct
Ensembl Gene ENSMUSG00000038580
Gene Name secretin
Synonyms
MMRRC Submission 068919-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R9110 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 140858243-140859046 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140859007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 2 (E2G)
Ref Sequence ENSEMBL: ENSMUSP00000041519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046156] [ENSMUST00000080654] [ENSMUST00000167263] [ENSMUST00000167790] [ENSMUST00000211667]
AlphaFold Q08535
Predicted Effect unknown
Transcript: ENSMUST00000046156
AA Change: E2G
SMART Domains Protein: ENSMUSP00000041519
Gene: ENSMUSG00000038580
AA Change: E2G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
GLUCA 32 58 1.16e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000080654
SMART Domains Protein: ENSMUSP00000079484
Gene: ENSMUSG00000025497

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 53 125 3.78e-2 SMART
CA 152 238 2.34e-1 SMART
Blast:CA 277 355 3e-35 BLAST
Blast:CA 388 458 3e-24 BLAST
transmembrane domain 478 500 N/A INTRINSIC
low complexity region 546 580 N/A INTRINSIC
low complexity region 634 653 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167263
SMART Domains Protein: ENSMUSP00000127292
Gene: ENSMUSG00000025497

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 53 125 3.78e-2 SMART
CA 152 238 2.34e-1 SMART
Blast:CA 277 355 3e-35 BLAST
Blast:CA 388 458 1e-24 BLAST
low complexity region 462 476 N/A INTRINSIC
low complexity region 496 518 N/A INTRINSIC
low complexity region 520 544 N/A INTRINSIC
low complexity region 559 576 N/A INTRINSIC
transmembrane domain 640 662 N/A INTRINSIC
low complexity region 708 742 N/A INTRINSIC
low complexity region 796 815 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000167790
AA Change: E2G
SMART Domains Protein: ENSMUSP00000128729
Gene: ENSMUSG00000038580
AA Change: E2G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
GLUCA 32 58 1.16e-6 SMART
Predicted Effect unknown
Transcript: ENSMUST00000211667
AA Change: E2G
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: This gene encodes the precursor of a gastrointestinal peptide hormone of the secretin-glucagon family. The encoded protein is secreted as a prohormone that undergoes proteolytic processing to generate a mature peptide hormone. The mature peptide regulates secretion of gastric acid, biocarbonate ions from pancreatic and biliary duct epithelia and water homeostasis in the gastrointestinal system. Mice lacking the encoded protein display decreased survival of neuroprogenitor cells during early postnatal period and impaired long-term potentiation and spatial learning in adulthood. Alternative splicing results in multiple transcript variants encoding different isoforms. All of these isoforms may be processed in a similar manner to generate the mature peptide hormone. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a null allele display impaired hippocampal synaptic function. Mice homozygous for a different knock-out allele fail exhibit increased water concsumption of vasopressin serum levels in response to ANGII treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,831,615 (GRCm39) probably benign Het
Adam20 A G 8: 41,248,907 (GRCm39) D339G probably benign Het
Adam3 T A 8: 25,193,821 (GRCm39) Y397F probably benign Het
Ago3 C T 4: 126,248,829 (GRCm39) G574E probably damaging Het
Angptl4 T A 17: 33,999,800 (GRCm39) Y133F probably benign Het
Ankrd61 T C 5: 143,831,759 (GRCm39) D15G possibly damaging Het
Arfgap1 T A 2: 180,615,330 (GRCm39) S174T possibly damaging Het
Arhgap12 T C 18: 6,034,539 (GRCm39) D549G possibly damaging Het
Arhgap25 T C 6: 87,453,254 (GRCm39) E182G probably benign Het
Astn1 T G 1: 158,496,327 (GRCm39) I1127S probably benign Het
Bivm T C 1: 44,168,526 (GRCm39) probably null Het
Cdc42bpa T A 1: 179,945,258 (GRCm39) S952T possibly damaging Het
Cfap44 T A 16: 44,255,923 (GRCm39) L1005Q probably damaging Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Cog1 T C 11: 113,544,807 (GRCm39) F330L possibly damaging Het
Dnah2 T G 11: 69,435,208 (GRCm39) D54A probably benign Het
Dntt A T 19: 41,044,197 (GRCm39) probably null Het
Eml2 A G 7: 18,925,620 (GRCm39) S240G probably benign Het
Fam174b G A 7: 73,416,371 (GRCm39) probably benign Het
Fancd2 T C 6: 113,512,762 (GRCm39) S33P possibly damaging Het
Fars2 A T 13: 36,430,402 (GRCm39) M277L probably benign Het
Ifnar1 G A 16: 91,302,150 (GRCm39) G542S probably benign Het
Itih5 T C 2: 10,191,831 (GRCm39) V122A probably benign Het
Jph3 A G 8: 122,516,201 (GRCm39) I740V probably benign Het
Krtap16-1 C T 11: 99,877,386 (GRCm39) C6Y probably benign Het
Mettl25b G A 3: 87,834,978 (GRCm39) H57Y probably benign Het
Mpeg1 A T 19: 12,440,014 (GRCm39) T491S probably benign Het
Mroh8 T A 2: 157,055,605 (GRCm39) I998L possibly damaging Het
Nrxn1 G A 17: 90,869,233 (GRCm39) Q124* probably null Het
Nup188 T A 2: 30,222,461 (GRCm39) S1028T possibly damaging Het
Nxf1 A T 19: 8,745,118 (GRCm39) H456L probably damaging Het
Or2aj6 T A 16: 19,443,743 (GRCm39) I36F possibly damaging Het
Or2n1d C A 17: 38,646,434 (GRCm39) P129T probably damaging Het
Or5af2 T A 11: 58,707,959 (GRCm39) S42T possibly damaging Het
Or5w19 T A 2: 87,698,543 (GRCm39) D69E probably damaging Het
Or6c66 T A 10: 129,461,820 (GRCm39) I37F possibly damaging Het
Otx2 T C 14: 48,896,227 (GRCm39) N277S probably damaging Het
Pax4 T C 6: 28,445,201 (GRCm39) N158S probably benign Het
Pgm2 T G 5: 64,261,159 (GRCm39) S218A probably benign Het
Plb1 T C 5: 32,521,402 (GRCm39) S1418P probably benign Het
Prkd3 T A 17: 79,292,751 (GRCm39) D107V probably damaging Het
Prl2a1 A G 13: 27,992,398 (GRCm39) E174G probably benign Het
Prr7 C T 13: 55,620,574 (GRCm39) P194L probably damaging Het
Psmd2 T C 16: 20,470,994 (GRCm39) S46P probably damaging Het
Ptbp2 C T 3: 119,541,258 (GRCm39) A231T possibly damaging Het
Rae1 A G 2: 172,854,016 (GRCm39) T265A probably benign Het
Sec14l3 T G 11: 4,015,007 (GRCm39) probably null Het
Sfxn3 T A 19: 45,038,727 (GRCm39) N131K probably damaging Het
Slc18a2 A T 19: 59,282,326 (GRCm39) D511V probably benign Het
Slc20a2 T C 8: 23,025,457 (GRCm39) I53T probably damaging Het
Smad4 T C 18: 73,782,941 (GRCm39) D331G probably damaging Het
Srms C T 2: 180,848,050 (GRCm39) R485H Het
Szt2 C A 4: 118,242,630 (GRCm39) A1486S possibly damaging Het
Tmem87b C T 2: 128,684,615 (GRCm39) Q459* probably null Het
Vdr A T 15: 97,782,753 (GRCm39) I23N probably damaging Het
Vmn1r204 T C 13: 22,740,564 (GRCm39) V65A possibly damaging Het
Vps33b A G 7: 79,939,743 (GRCm39) D498G probably benign Het
Zfp442 T A 2: 150,250,093 (GRCm39) Y603F probably benign Het
Zfp853 T A 5: 143,275,320 (GRCm39) Q115L unknown Het
Zmiz2 C A 11: 6,348,271 (GRCm39) Q303K probably benign Het
Other mutations in Sct
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02334:Sct APN 7 140,858,530 (GRCm39) critical splice donor site probably null
R1654:Sct UTSW 7 140,858,767 (GRCm39) missense probably damaging 0.96
R1879:Sct UTSW 7 140,858,612 (GRCm39) missense probably damaging 0.98
R1898:Sct UTSW 7 140,858,761 (GRCm39) missense probably damaging 1.00
R4762:Sct UTSW 7 140,858,954 (GRCm39) unclassified probably benign
R8296:Sct UTSW 7 140,858,807 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCGCTGGTGAACATTCCGTC -3'
(R):5'- ACTTGGTAGCACTACTCCTCTAATC -3'

Sequencing Primer
(F):5'- TGAACATTCCGTCTGAGTGTC -3'
(R):5'- AGTTGAGGGGCGCCAAC -3'
Posted On 2021-12-30