Incidental Mutation 'R5328:Ttyh2'
ID 422166
Institutional Source Beutler Lab
Gene Symbol Ttyh2
Ensembl Gene ENSMUSG00000034714
Gene Name tweety family member 2
MMRRC Submission 042843-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R5328 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 114675431-114720977 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 114710068 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 381 (I381N)
Ref Sequence ENSEMBL: ENSMUSP00000037821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045779]
AlphaFold Q3TH73
Predicted Effect possibly damaging
Transcript: ENSMUST00000045779
AA Change: I381N

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037821
Gene: ENSMUSG00000034714
AA Change: I381N

Pfam:Tweety 27 433 2.5e-184 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,837,694 (GRCm38) V860E possibly damaging Het
Abcc6 T C 7: 45,992,311 (GRCm38) D881G probably benign Het
Abcc9 A G 6: 142,682,059 (GRCm38) V415A probably benign Het
Adgrb3 A C 1: 25,094,275 (GRCm38) N1003K possibly damaging Het
Adora3 C T 3: 105,907,303 (GRCm38) T123I probably benign Het
Amotl2 A C 9: 102,723,768 (GRCm38) T345P probably benign Het
Arap3 C T 18: 37,991,687 (GRCm38) E247K possibly damaging Het
Atp8b1 A T 18: 64,531,391 (GRCm38) D1235E probably benign Het
Axl A T 7: 25,773,411 (GRCm38) V400E probably damaging Het
Brd8 T A 18: 34,607,981 (GRCm38) N431Y probably benign Het
Cadps A T 14: 12,457,790 (GRCm38) N1025K probably benign Het
Cblc A T 7: 19,792,580 (GRCm38) S195T possibly damaging Het
Chd2 C T 7: 73,463,681 (GRCm38) A1184T possibly damaging Het
Chst10 G A 1: 38,895,962 (GRCm38) probably benign Het
Col12a1 T C 9: 79,620,060 (GRCm38) K2663E probably damaging Het
Cspg4 A T 9: 56,885,856 (GRCm38) I292L probably benign Het
Cul1 T C 6: 47,508,317 (GRCm38) V294A probably damaging Het
Cyp2d11 G A 15: 82,391,771 (GRCm38) P203L probably benign Het
Dscam T C 16: 96,673,678 (GRCm38) H1228R probably benign Het
Eif3l A T 15: 79,093,361 (GRCm38) K534* probably null Het
Enpep T C 3: 129,280,510 (GRCm38) E796G probably benign Het
Ext1 C A 15: 53,075,817 (GRCm38) W612L probably damaging Het
Faap100 T A 11: 120,377,632 (GRCm38) E105V possibly damaging Het
Fam117a T A 11: 95,364,170 (GRCm38) probably null Het
Fan1 A T 7: 64,354,469 (GRCm38) Y750N probably damaging Het
Fat4 T A 3: 38,956,868 (GRCm38) I2039N probably damaging Het
Gabrr2 G T 4: 33,082,565 (GRCm38) D106Y probably damaging Het
Gak A C 5: 108,617,001 (GRCm38) C145G possibly damaging Het
Galnt14 A T 17: 73,505,459 (GRCm38) N406K possibly damaging Het
Gm10439 T G X: 149,636,163 (GRCm38) *434E probably null Het
Gm10837 G T 14: 122,490,778 (GRCm38) R22L unknown Het
Gm19965 T A 1: 116,821,418 (GRCm38) H276Q possibly damaging Het
Gm43517 T C 12: 49,391,156 (GRCm38) probably benign Het
Gm9733 T C 3: 15,332,174 (GRCm38) M17V unknown Het
Greb1l A T 18: 10,553,720 (GRCm38) I1574F probably damaging Het
Gzme G A 14: 56,117,767 (GRCm38) H236Y probably benign Het
Heatr5b G A 17: 78,826,362 (GRCm38) T266I possibly damaging Het
Hk3 T C 13: 55,013,493 (GRCm38) I185V probably benign Het
Hnrnpr A G 4: 136,339,216 (GRCm38) E302G probably benign Het
Itgal T C 7: 127,311,675 (GRCm38) probably null Het
Itk A G 11: 46,331,876 (GRCm38) S583P probably benign Het
Loxhd1 A T 18: 77,410,572 (GRCm38) I1448F probably damaging Het
Macf1 GCCCCC GCCCCCC 4: 123,350,991 (GRCm38) probably null Het
Man2a2 A T 7: 80,368,756 (GRCm38) F118L probably benign Het
Mfsd5 T A 15: 102,281,012 (GRCm38) V273E probably damaging Het
Nfe2l2 A G 2: 75,676,856 (GRCm38) L300P probably damaging Het
Nt5c1a T G 4: 123,208,993 (GRCm38) L122R possibly damaging Het
Nt5c3b A G 11: 100,440,241 (GRCm38) F42S probably damaging Het
Olfr332 C A 11: 58,490,429 (GRCm38) A109S possibly damaging Het
Olfr577 T A 7: 102,973,968 (GRCm38) N8I possibly damaging Het
Pabpc1 A T 15: 36,602,877 (GRCm38) D204E probably benign Het
Panx2 A G 15: 89,068,095 (GRCm38) N255S probably damaging Het
Pcnt A G 10: 76,411,719 (GRCm38) L993P probably damaging Het
Pfas A T 11: 68,988,592 (GRCm38) C1160S probably damaging Het
Plekhh3 T A 11: 101,167,658 (GRCm38) probably benign Het
Plod3 T A 5: 136,989,683 (GRCm38) N258K probably damaging Het
Prr14l T C 5: 32,830,021 (GRCm38) Q710R probably benign Het
Rnf216 G T 5: 143,092,999 (GRCm38) T65K possibly damaging Het
Samd9l T C 6: 3,376,739 (GRCm38) E174G probably damaging Het
Sept12 T A 16: 4,993,993 (GRCm38) M63L possibly damaging Het
Sh3bgrl2 T A 9: 83,577,456 (GRCm38) D22E probably benign Het
Skil A G 3: 31,117,569 (GRCm38) K488R probably benign Het
Slamf6 T A 1: 171,938,095 (GRCm38) I262K probably benign Het
Slc27a3 T C 3: 90,386,832 (GRCm38) D470G probably damaging Het
Sorbs3 A T 14: 70,181,174 (GRCm38) V680E probably damaging Het
Sox9 C T 11: 112,782,658 (GRCm38) T25I probably benign Het
Srsf1 G T 11: 88,049,993 (GRCm38) probably benign Het
Stard9 A C 2: 120,699,230 (GRCm38) E1989D probably damaging Het
Thumpd2 T A 17: 81,044,162 (GRCm38) I277F possibly damaging Het
Tinag C A 9: 77,005,631 (GRCm38) G299* probably null Het
Tk2 A T 8: 104,229,299 (GRCm38) probably null Het
Tmem44 A G 16: 30,540,891 (GRCm38) S210P possibly damaging Het
Traf3ip1 C A 1: 91,520,069 (GRCm38) P423T probably damaging Het
Trmt12 A G 15: 58,872,855 (GRCm38) D34G probably damaging Het
Ttc39b A G 4: 83,261,941 (GRCm38) Y72H probably damaging Het
Ttn G A 2: 76,878,411 (GRCm38) probably benign Het
Uaca A T 9: 60,870,532 (GRCm38) N734Y probably benign Het
Usp34 G A 11: 23,488,659 (GRCm38) G3407D probably benign Het
Usp34 T C 11: 23,464,616 (GRCm38) I2853T probably benign Het
Vmn2r78 A G 7: 86,921,030 (GRCm38) Y252C probably damaging Het
Wdr19 G A 5: 65,244,179 (GRCm38) C979Y probably damaging Het
Wdr92 C A 11: 17,222,220 (GRCm38) P103Q probably damaging Het
Yeats2 A T 16: 20,171,205 (GRCm38) H277L probably damaging Het
Zbtb2 T C 10: 4,369,267 (GRCm38) Y253C possibly damaging Het
Zfat C A 15: 68,179,828 (GRCm38) G706C probably damaging Het
Zfp106 A T 2: 120,520,417 (GRCm38) N1584K possibly damaging Het
Other mutations in Ttyh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03048:Ttyh2 UTSW 11 114,696,695 (GRCm38) missense probably benign 0.38
IGL03050:Ttyh2 UTSW 11 114,708,854 (GRCm38) missense probably damaging 1.00
R0088:Ttyh2 UTSW 11 114,690,255 (GRCm38) missense probably damaging 1.00
R0734:Ttyh2 UTSW 11 114,710,193 (GRCm38) splice site probably benign
R1163:Ttyh2 UTSW 11 114,710,888 (GRCm38) missense probably benign
R1433:Ttyh2 UTSW 11 114,710,179 (GRCm38) missense probably benign 0.03
R1531:Ttyh2 UTSW 11 114,686,452 (GRCm38) missense probably damaging 1.00
R1709:Ttyh2 UTSW 11 114,708,475 (GRCm38) missense probably damaging 1.00
R3709:Ttyh2 UTSW 11 114,719,132 (GRCm38) missense possibly damaging 0.68
R4497:Ttyh2 UTSW 11 114,710,963 (GRCm38) missense possibly damaging 0.94
R4641:Ttyh2 UTSW 11 114,701,783 (GRCm38) missense probably damaging 1.00
R4970:Ttyh2 UTSW 11 114,696,757 (GRCm38) missense probably benign 0.00
R5112:Ttyh2 UTSW 11 114,696,757 (GRCm38) missense probably benign 0.00
R5587:Ttyh2 UTSW 11 114,675,659 (GRCm38) missense probably benign 0.01
R5744:Ttyh2 UTSW 11 114,702,310 (GRCm38) critical splice donor site probably null
R6302:Ttyh2 UTSW 11 114,701,836 (GRCm38) missense probably damaging 1.00
R7847:Ttyh2 UTSW 11 114,675,674 (GRCm38) critical splice donor site probably null
R7890:Ttyh2 UTSW 11 114,686,446 (GRCm38) missense possibly damaging 0.68
R7957:Ttyh2 UTSW 11 114,708,864 (GRCm38) splice site probably null
R8851:Ttyh2 UTSW 11 114,702,264 (GRCm38) missense probably benign
R9421:Ttyh2 UTSW 11 114,696,807 (GRCm38) nonsense probably null
R9606:Ttyh2 UTSW 11 114,710,841 (GRCm38) missense probably benign 0.00
R9641:Ttyh2 UTSW 11 114,707,690 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-08-04