Incidental Mutation 'IGL02939:Tmtc2'
ID 365953
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmtc2
Ensembl Gene ENSMUSG00000036019
Gene Name transmembrane and tetratricopeptide repeat containing 2
Synonyms 8430438D04Rik, D330034A10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # IGL02939
Quality Score
Status
Chromosome 10
Chromosomal Location 105023524-105410312 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105206411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 295 (S295P)
Ref Sequence ENSEMBL: ENSMUSP00000061919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061506]
AlphaFold Q56A06
Predicted Effect probably damaging
Transcript: ENSMUST00000061506
AA Change: S295P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061919
Gene: ENSMUSG00000036019
AA Change: S295P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 223 245 N/A INTRINSIC
Pfam:DUF1736 247 321 7.3e-33 PFAM
transmembrane domain 393 415 N/A INTRINSIC
transmembrane domain 425 444 N/A INTRINSIC
TPR 493 526 1.6e-3 SMART
TPR 527 560 6.84e-3 SMART
TPR 561 594 2.52e-1 SMART
TPR 606 639 3.12e-6 SMART
TPR 643 676 3.99e1 SMART
TPR 677 710 7.12e-1 SMART
low complexity region 729 739 N/A INTRINSIC
TPR 745 778 1.51e1 SMART
TPR 779 812 1.43e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143691
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 an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6ap1 A G X: 73,340,924 (GRCm39) D47G probably benign Het
Atr T C 9: 95,747,314 (GRCm39) F199L probably benign Het
Bivm C A 1: 44,182,120 (GRCm39) H443N probably benign Het
Btnl2 A T 17: 34,580,043 (GRCm39) H192L probably benign Het
Ccdc178 A T 18: 22,253,775 (GRCm39) C155S probably benign Het
Celsr1 C A 15: 85,785,673 (GRCm39) V2934L probably benign Het
Celsr3 T C 9: 108,726,652 (GRCm39) S3294P probably damaging Het
Ddx10 T A 9: 53,115,579 (GRCm39) E585V possibly damaging Het
Elapor2 T C 5: 9,511,478 (GRCm39) Y947H probably damaging Het
Eps15l1 A T 8: 73,138,606 (GRCm39) probably benign Het
Erlin1 G T 19: 44,051,491 (GRCm39) T70K probably damaging Het
Ext2 A T 2: 93,534,964 (GRCm39) probably null Het
Fam124a G A 14: 62,793,368 (GRCm39) probably null Het
Fam53a T C 5: 33,765,103 (GRCm39) D201G probably damaging Het
Fgf14 C T 14: 124,369,891 (GRCm39) G136D possibly damaging Het
Gdi2 A T 13: 3,614,623 (GRCm39) T323S probably benign Het
Gemin5 A T 11: 58,047,556 (GRCm39) N339K probably damaging Het
Golga4 A G 9: 118,364,522 (GRCm39) E286G probably benign Het
Golga4 A C 9: 118,363,700 (GRCm39) K233T probably damaging Het
Gosr1 A G 11: 76,641,732 (GRCm39) probably benign Het
Haus8 A G 8: 71,708,361 (GRCm39) probably benign Het
Itgb3bp T C 4: 99,690,373 (GRCm39) T49A probably null Het
Ldlrad4 A G 18: 68,387,585 (GRCm39) D299G probably damaging Het
Lpo A G 11: 87,706,004 (GRCm39) M273T possibly damaging Het
Map3k4 T A 17: 12,491,036 (GRCm39) S132C probably damaging Het
Mycbp2 T G 14: 103,414,715 (GRCm39) T2566P probably benign Het
Nalcn T C 14: 123,536,284 (GRCm39) E1255G probably null Het
Nop56 A T 2: 130,120,117 (GRCm39) K157N probably damaging Het
Or10g9 C T 9: 39,912,194 (GRCm39) E110K probably benign Het
Or6c1 A T 10: 129,517,857 (GRCm39) Y250* probably null Het
Pcdh15 A G 10: 74,340,648 (GRCm39) probably benign Het
Pi4ka T C 16: 17,172,074 (GRCm39) H557R probably damaging Het
Plekha4 C T 7: 45,181,787 (GRCm39) Q64* probably null Het
Ppp2r3c G A 12: 55,345,192 (GRCm39) probably benign Het
Rgmb C T 17: 16,027,755 (GRCm39) M321I probably benign Het
Rnf31 T C 14: 55,833,131 (GRCm39) S363P probably benign Het
Sap18b T A 8: 96,552,329 (GRCm39) M113K probably benign Het
Scara3 T A 14: 66,169,105 (GRCm39) M171L probably benign Het
Slc9a2 T G 1: 40,781,863 (GRCm39) M364R probably damaging Het
Sorcs1 C T 19: 50,666,368 (GRCm39) W180* probably null Het
Stat6 T A 10: 127,482,809 (GRCm39) M10K probably benign Het
Sun1 T C 5: 139,221,243 (GRCm39) probably benign Het
Tead2 T C 7: 44,869,858 (GRCm39) probably benign Het
Tjp1 T G 7: 64,964,638 (GRCm39) E844D probably damaging Het
Ttn G A 2: 76,612,756 (GRCm39) R17108C probably damaging Het
Ubr1 T C 2: 120,711,664 (GRCm39) probably null Het
Vmn2r108 T A 17: 20,691,545 (GRCm39) H326L probably benign Het
Xdh A G 17: 74,250,840 (GRCm39) probably null Het
Zfp385b A G 2: 77,242,403 (GRCm39) S439P probably benign Het
Zfp597 G A 16: 3,683,805 (GRCm39) S317L probably benign Het
Zfp638 A G 6: 83,946,214 (GRCm39) D1081G probably damaging Het
Zfp93 C T 7: 23,974,509 (GRCm39) H165Y possibly damaging Het
Other mutations in Tmtc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Tmtc2 APN 10 105,157,307 (GRCm39) missense possibly damaging 0.82
IGL01284:Tmtc2 APN 10 105,107,372 (GRCm39) missense possibly damaging 0.56
IGL01317:Tmtc2 APN 10 105,249,646 (GRCm39) missense probably damaging 1.00
IGL01327:Tmtc2 APN 10 105,184,340 (GRCm39) missense probably benign 0.15
IGL01637:Tmtc2 APN 10 105,205,946 (GRCm39) missense probably benign 0.00
IGL02176:Tmtc2 APN 10 105,184,354 (GRCm39) missense probably benign 0.00
IGL02354:Tmtc2 APN 10 105,107,387 (GRCm39) missense probably benign 0.00
IGL02361:Tmtc2 APN 10 105,107,387 (GRCm39) missense probably benign 0.00
IGL02514:Tmtc2 APN 10 105,025,960 (GRCm39) missense possibly damaging 0.94
IGL02540:Tmtc2 APN 10 105,249,200 (GRCm39) missense probably benign 0.45
IGL02625:Tmtc2 APN 10 105,206,407 (GRCm39) missense probably damaging 1.00
IGL02938:Tmtc2 APN 10 105,249,157 (GRCm39) missense probably damaging 1.00
IGL03388:Tmtc2 APN 10 105,157,344 (GRCm39) splice site probably benign
PIT4402001:Tmtc2 UTSW 10 105,249,268 (GRCm39) missense probably damaging 1.00
PIT4449001:Tmtc2 UTSW 10 105,139,465 (GRCm39) missense probably damaging 1.00
R1424:Tmtc2 UTSW 10 105,249,229 (GRCm39) missense probably benign 0.00
R1462:Tmtc2 UTSW 10 105,409,566 (GRCm39) nonsense probably null
R1462:Tmtc2 UTSW 10 105,409,566 (GRCm39) nonsense probably null
R1529:Tmtc2 UTSW 10 105,139,519 (GRCm39) missense probably damaging 1.00
R1903:Tmtc2 UTSW 10 105,025,969 (GRCm39) missense probably benign 0.00
R2225:Tmtc2 UTSW 10 105,206,218 (GRCm39) missense probably benign 0.22
R4280:Tmtc2 UTSW 10 105,184,294 (GRCm39) critical splice donor site probably null
R4602:Tmtc2 UTSW 10 105,249,391 (GRCm39) missense probably benign
R4603:Tmtc2 UTSW 10 105,249,391 (GRCm39) missense probably benign
R4624:Tmtc2 UTSW 10 105,139,511 (GRCm39) missense probably benign 0.04
R4625:Tmtc2 UTSW 10 105,139,511 (GRCm39) missense probably benign 0.04
R4628:Tmtc2 UTSW 10 105,139,511 (GRCm39) missense probably benign 0.04
R4629:Tmtc2 UTSW 10 105,139,511 (GRCm39) missense probably benign 0.04
R5192:Tmtc2 UTSW 10 105,026,038 (GRCm39) missense probably damaging 1.00
R5769:Tmtc2 UTSW 10 105,205,907 (GRCm39) missense probably benign 0.00
R5846:Tmtc2 UTSW 10 105,107,302 (GRCm39) intron probably benign
R5892:Tmtc2 UTSW 10 105,249,366 (GRCm39) missense probably benign 0.08
R5897:Tmtc2 UTSW 10 105,249,459 (GRCm39) missense probably damaging 1.00
R6362:Tmtc2 UTSW 10 105,205,831 (GRCm39) missense probably damaging 1.00
R6391:Tmtc2 UTSW 10 105,409,551 (GRCm39) missense probably benign 0.06
R6640:Tmtc2 UTSW 10 105,409,610 (GRCm39) start codon destroyed probably benign 0.01
R6812:Tmtc2 UTSW 10 105,249,130 (GRCm39) missense probably benign 0.01
R6975:Tmtc2 UTSW 10 105,158,863 (GRCm39) missense probably benign 0.01
R7042:Tmtc2 UTSW 10 105,206,477 (GRCm39) missense probably damaging 1.00
R7063:Tmtc2 UTSW 10 105,184,386 (GRCm39) missense probably damaging 1.00
R7211:Tmtc2 UTSW 10 105,409,587 (GRCm39) missense probably benign 0.31
R7288:Tmtc2 UTSW 10 105,249,469 (GRCm39) missense probably damaging 1.00
R7576:Tmtc2 UTSW 10 105,206,482 (GRCm39) missense probably damaging 1.00
R7728:Tmtc2 UTSW 10 105,107,358 (GRCm39) critical splice donor site probably null
R7850:Tmtc2 UTSW 10 105,409,568 (GRCm39) missense probably benign 0.01
R8024:Tmtc2 UTSW 10 105,025,987 (GRCm39) missense probably benign 0.37
R8417:Tmtc2 UTSW 10 105,249,097 (GRCm39) missense probably damaging 0.98
R8697:Tmtc2 UTSW 10 105,205,831 (GRCm39) missense probably damaging 1.00
R8913:Tmtc2 UTSW 10 105,158,887 (GRCm39) missense probably damaging 1.00
R9409:Tmtc2 UTSW 10 105,159,419 (GRCm39) missense probably damaging 1.00
R9782:Tmtc2 UTSW 10 105,026,062 (GRCm39) missense probably damaging 1.00
Z1176:Tmtc2 UTSW 10 105,139,483 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18