Incidental Mutation 'R7187:Tff2'
ID 559390
Institutional Source Beutler Lab
Gene Symbol Tff2
Ensembl Gene ENSMUSG00000024028
Gene Name trefoil factor 2 (spasmolytic protein 1)
Synonyms SP, mSP
MMRRC Submission 045377-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R7187 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 31360036-31363256 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31361200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 118 (C118S)
Ref Sequence ENSEMBL: ENSMUSP00000024826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024826]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000024826
AA Change: C118S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024826
Gene: ENSMUSG00000024028
AA Change: C118S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
PD 29 76 1.44e-16 SMART
PD 79 125 6.94e-19 SMART
Meta Mutation Damage Score 0.9192 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. The encoded protein inhibits gastric acid secretion. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in decreased gastric proliferation, increased acid secretion, increased susceptibility to gastric ulceration after indomethacin administration, and altered regulation of genes involved in adaptive and immune responses in the pyloric antrum. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,327,733 (GRCm39) Y716C probably damaging Het
Abcc1 A G 16: 14,284,861 (GRCm39) I1237V probably benign Het
Adam34 C T 8: 44,105,565 (GRCm39) A27T probably benign Het
Aff3 T C 1: 38,257,478 (GRCm39) S415G probably damaging Het
Ak7 T C 12: 105,711,532 (GRCm39) Y390H probably benign Het
Arap2 A C 5: 62,826,396 (GRCm39) M1056R probably damaging Het
Brf1 T C 12: 112,923,945 (GRCm39) Y676C unknown Het
Cachd1 T A 4: 100,833,552 (GRCm39) H776Q possibly damaging Het
Cacng7 T C 7: 3,385,183 (GRCm39) V28A probably damaging Het
Camk2g A T 14: 20,792,780 (GRCm39) D359E probably benign Het
Cd209b T C 8: 3,976,638 (GRCm39) D16G probably benign Het
Ceacam5 A G 7: 17,493,410 (GRCm39) E811G possibly damaging Het
Cecr2 T A 6: 120,733,647 (GRCm39) S545T probably benign Het
Cep55 T C 19: 38,048,806 (GRCm39) probably null Het
Ctif C A 18: 75,770,290 (GRCm39) V32L probably damaging Het
Cwc27 G A 13: 104,797,900 (GRCm39) A353V probably benign Het
Dclk3 T A 9: 111,314,064 (GRCm39) S713R probably damaging Het
Dlec1 C T 9: 118,941,214 (GRCm39) H255Y probably benign Het
Dlgap1 A G 17: 70,823,093 (GRCm39) H26R possibly damaging Het
Dydc1 C T 14: 40,800,051 (GRCm39) T19I possibly damaging Het
Efcab12 G A 6: 115,800,474 (GRCm39) P183L not run Het
Eif1ad19 T C 12: 87,740,708 (GRCm39) probably benign Het
Eri3 C A 4: 117,446,343 (GRCm39) Q219K probably benign Het
Fam135a A G 1: 24,083,295 (GRCm39) L310P probably damaging Het
Fgd5 T A 6: 91,965,272 (GRCm39) S502T possibly damaging Het
Fgf8 A G 19: 45,730,106 (GRCm39) S57P probably benign Het
Gls T C 1: 52,259,139 (GRCm39) E154G probably damaging Het
Gm28042 T C 2: 119,870,176 (GRCm39) L705P probably damaging Het
Golgb1 C A 16: 36,736,512 (GRCm39) Q1961K probably benign Het
Herc3 C A 6: 58,833,616 (GRCm39) Q168K probably benign Het
Il31ra C A 13: 112,682,845 (GRCm39) C168F probably benign Het
Ino80 A T 2: 119,257,072 (GRCm39) D860E probably benign Het
Iqcm T G 8: 76,480,044 (GRCm39) L334R probably benign Het
Lrrk2 A G 15: 91,641,204 (GRCm39) D1587G possibly damaging Het
Map4 T A 9: 109,882,201 (GRCm39) V355E probably benign Het
Mapk13 T A 17: 28,995,361 (GRCm39) I194N probably damaging Het
Mtus2 A G 5: 148,013,515 (GRCm39) T103A probably benign Het
Naglu G T 11: 100,961,158 (GRCm39) G70W probably benign Het
Nlrp4f A T 13: 65,343,201 (GRCm39) M126K possibly damaging Het
Or4c120 T C 2: 89,001,714 (GRCm39) probably benign Het
Or5p61 A T 7: 107,758,585 (GRCm39) V165E probably benign Het
Pdia4 T C 6: 47,790,193 (GRCm39) T16A unknown Het
Pou6f2 G A 13: 18,414,298 (GRCm39) A159V Het
Ripor1 A G 8: 106,344,506 (GRCm39) T547A probably benign Het
Rundc3b A G 5: 8,542,506 (GRCm39) S389P probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spats2 T C 15: 99,110,054 (GRCm39) S484P probably benign Het
Supv3l1 G A 10: 62,271,328 (GRCm39) T403I probably damaging Het
Tacstd2 G A 6: 67,512,180 (GRCm39) R171W probably damaging Het
Taok2 A T 7: 126,471,552 (GRCm39) F542L probably damaging Het
Tbc1d31 T A 15: 57,801,459 (GRCm39) N331K possibly damaging Het
Tmprss7 G A 16: 45,498,317 (GRCm39) T354I possibly damaging Het
Tmtc3 A T 10: 100,313,774 (GRCm39) F33I probably damaging Het
Tpbpa G A 13: 61,088,399 (GRCm39) probably benign Het
Ube3a G T 7: 58,925,653 (GRCm39) V165F probably benign Het
Vmn2r4 T G 3: 64,322,681 (GRCm39) T13P probably benign Het
Wnt8b A G 19: 44,500,121 (GRCm39) D236G probably benign Het
Ythdf3 C A 3: 16,258,451 (GRCm39) D210E probably benign Het
Zfp110 T A 7: 12,583,753 (GRCm39) Y800* probably null Het
Other mutations in Tff2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01434:Tff2 APN 17 31,362,240 (GRCm39) splice site probably null
IGL01486:Tff2 APN 17 31,361,316 (GRCm39) missense probably benign 0.37
R1270:Tff2 UTSW 17 31,363,143 (GRCm39) critical splice donor site probably null
R2054:Tff2 UTSW 17 31,362,199 (GRCm39) missense probably benign 0.02
R2107:Tff2 UTSW 17 31,361,256 (GRCm39) missense possibly damaging 0.50
R6163:Tff2 UTSW 17 31,363,152 (GRCm39) missense probably benign 0.25
R6754:Tff2 UTSW 17 31,363,207 (GRCm39) missense probably benign 0.06
R8899:Tff2 UTSW 17 31,362,113 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ATAGAACAAACCCCTGAGAGCAG -3'
(R):5'- GAGTGTCCAGCCTGACAAAG -3'

Sequencing Primer
(F):5'- CGGTAAACTCTGCATTCAGTGAG -3'
(R):5'- CCTGACAAAGCCTTGGATGTTGC -3'
Posted On 2019-06-26