Incidental Mutation 'R3709:Ttyh2'
ID259505
Institutional Source Beutler Lab
Gene Symbol Ttyh2
Ensembl Gene ENSMUSG00000034714
Gene Nametweety family member 2
Synonyms
MMRRC Submission 040702-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #R3709 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location114675431-114720977 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 114719132 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 510 (S510A)
Ref Sequence ENSEMBL: ENSMUSP00000037821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045779]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045779
AA Change: S510A

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000037821
Gene: ENSMUSG00000034714
AA Change: S510A

DomainStartEndE-ValueType
Pfam:Tweety 27 433 2.5e-184 PFAM
Meta Mutation Damage Score 0.0867 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 98% (50/51)
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 tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel, and may play a role in kidney tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T G 11: 49,019,653 D651A probably damaging Het
Abcb1a A G 5: 8,738,738 N1039S probably benign Het
Abcc2 G T 19: 43,798,446 V169F possibly damaging Het
Adcy8 T C 15: 64,725,535 probably benign Het
Aida C A 1: 183,304,675 probably null Het
Armc8 A G 9: 99,520,497 I333T probably damaging Het
B4galt3 C A 1: 171,274,043 H196N probably damaging Het
Ccdc92b C A 11: 74,638,107 R146S probably damaging Het
Cdc42bpa A G 1: 180,065,063 D264G probably damaging Het
Cenpf A G 1: 189,648,812 S2804P possibly damaging Het
Cic A G 7: 25,286,981 D1276G probably damaging Het
Cldn19 T C 4: 119,256,897 S79P possibly damaging Het
Ctdp1 G A 18: 80,450,213 Q356* probably null Het
Cyp2c69 A G 19: 39,851,223 probably benign Het
D3Ertd254e T A 3: 36,159,576 C20S possibly damaging Het
Dhrs3 T C 4: 144,893,711 probably null Het
Fhod3 T A 18: 25,090,758 W1054R probably damaging Het
Gfral G A 9: 76,193,443 R238* probably null Het
Gm10322 C A 10: 59,616,119 D19E possibly damaging Het
Gprc6a CAAA CA 10: 51,615,680 probably null Het
Idh3a T C 9: 54,586,526 S4P possibly damaging Het
Il15ra G T 2: 11,730,647 probably null Het
Ipo8 A T 6: 148,806,344 probably null Het
Iqgap1 G A 7: 80,717,087 T1595I possibly damaging Het
Kalrn C T 16: 34,392,030 probably null Het
Klrb1a T C 6: 128,618,503 D96G probably benign Het
Lrp1b C T 2: 40,697,442 V165M unknown Het
Lrp4 A C 2: 91,490,466 T975P possibly damaging Het
Lsm14a T A 7: 34,353,779 I283F probably damaging Het
Mael T C 1: 166,238,566 D34G probably damaging Het
Map2 C T 1: 66,415,856 Q1302* probably null Het
Mctp1 T C 13: 76,824,880 probably null Het
Mlxip T C 5: 123,447,474 V642A probably benign Het
Myh9 T C 15: 77,773,347 E1066G possibly damaging Het
Naa35 T A 13: 59,618,032 probably benign Het
Nacc1 T A 8: 84,677,199 I16F probably damaging Het
Ncapd3 T A 9: 27,052,349 N499K probably benign Het
Olfr479 A G 7: 108,055,797 M272V possibly damaging Het
Osbpl10 C A 9: 115,207,587 P253Q probably benign Het
Ptpn21 G T 12: 98,688,541 S722R probably benign Het
Rab44 C T 17: 29,139,869 P344S probably benign Het
Rbms2 C T 10: 128,143,443 R139Q probably damaging Het
Sh3bp2 T C 5: 34,551,658 Y32H probably damaging Het
Slc6a15 A G 10: 103,393,414 I105V probably benign Het
Thumpd3 A G 6: 113,055,691 D130G possibly damaging Het
Trib1 A G 15: 59,654,361 Y260C probably damaging Het
Tsks G T 7: 44,951,885 R208L possibly damaging Het
Ttn G T 2: 76,747,241 S22690* probably null Het
Was G T X: 8,086,688 S271R probably benign Het
Zfp472 T A 17: 32,977,711 Y253* probably null Het
Other mutations in Ttyh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03048:Ttyh2 UTSW 11 114696695 missense probably benign 0.38
IGL03050:Ttyh2 UTSW 11 114708854 missense probably damaging 1.00
R0088:Ttyh2 UTSW 11 114690255 missense probably damaging 1.00
R0734:Ttyh2 UTSW 11 114710193 splice site probably benign
R1163:Ttyh2 UTSW 11 114710888 missense probably benign
R1433:Ttyh2 UTSW 11 114710179 missense probably benign 0.03
R1531:Ttyh2 UTSW 11 114686452 missense probably damaging 1.00
R1709:Ttyh2 UTSW 11 114708475 missense probably damaging 1.00
R4497:Ttyh2 UTSW 11 114710963 missense possibly damaging 0.94
R4641:Ttyh2 UTSW 11 114701783 missense probably damaging 1.00
R4970:Ttyh2 UTSW 11 114696757 missense probably benign 0.00
R5112:Ttyh2 UTSW 11 114696757 missense probably benign 0.00
R5328:Ttyh2 UTSW 11 114710068 missense possibly damaging 0.90
R5587:Ttyh2 UTSW 11 114675659 missense probably benign 0.01
R5744:Ttyh2 UTSW 11 114702310 critical splice donor site probably null
R6302:Ttyh2 UTSW 11 114701836 missense probably damaging 1.00
R7847:Ttyh2 UTSW 11 114675674 critical splice donor site probably null
R7890:Ttyh2 UTSW 11 114686446 missense possibly damaging 0.68
R7930:Ttyh2 UTSW 11 114675674 critical splice donor site probably null
R7973:Ttyh2 UTSW 11 114686446 missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- TCCTCTATGTTCAGGATCTCGG -3'
(R):5'- GTCCAGGAACCTTCGGTTTC -3'

Sequencing Primer
(F):5'- ACCCAAAGGTCCTTTTGAGTCGG -3'
(R):5'- GGAACCTTCGGTTTCTATTCCAG -3'
Posted On2015-01-23