Incidental Mutation 'R5192:Tmtc2'
ID 405099
Institutional Source Beutler Lab
Gene Symbol Tmtc2
Ensembl Gene ENSMUSG00000036019
Gene Name transmembrane and tetratricopeptide repeat containing 2
Synonyms 8430438D04Rik, D330034A10Rik
MMRRC Submission 042768-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R5192 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 105023524-105410312 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 105026038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 810 (P810L)
Ref Sequence ENSEMBL: ENSMUSP00000061919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061506]
AlphaFold Q56A06
Predicted Effect probably damaging
Transcript: ENSMUST00000061506
AA Change: P810L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061919
Gene: ENSMUSG00000036019
AA Change: P810L

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: ENSMUST00000130665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133441
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147997
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.0%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef25 A G 10: 127,020,978 (GRCm39) S303P probably damaging Het
Babam1 T C 8: 71,856,897 (GRCm39) V286A probably damaging Het
Becn2 A G 1: 175,748,408 (GRCm39) D158G probably benign Het
Cep192 T C 18: 67,968,075 (GRCm39) I853T probably benign Het
Cfap43 A T 19: 47,814,364 (GRCm39) W157R probably damaging Het
Dnah17 T C 11: 117,925,185 (GRCm39) T3883A possibly damaging Het
Dzip1 C T 14: 119,148,805 (GRCm39) M291I probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fbxw19 T C 9: 109,313,496 (GRCm39) Y234C probably benign Het
Gask1a T G 9: 121,794,727 (GRCm39) S294A probably benign Het
Gm9988 T C 8: 88,865,001 (GRCm39) probably benign Het
Gstm1 A G 3: 107,922,259 (GRCm39) probably null Het
Hsfy2 T A 1: 56,675,894 (GRCm39) K214N probably benign Het
Kat6a G A 8: 23,401,729 (GRCm39) R366H probably damaging Het
Kctd4 A G 14: 76,200,127 (GRCm39) T33A probably benign Het
Klrh1 T C 6: 129,748,721 (GRCm39) T99A probably benign Het
Marchf10 T C 11: 105,262,752 (GRCm39) H735R possibly damaging Het
Myo1g T C 11: 6,464,816 (GRCm39) D486G probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or5d46 A G 2: 88,170,092 (GRCm39) Y61C possibly damaging Het
Or8b1 T C 9: 38,400,101 (GRCm39) Y259H possibly damaging Het
Pif1 G T 9: 65,495,374 (GRCm39) A95S probably benign Het
Plppr2 T C 9: 21,852,428 (GRCm39) F104S probably damaging Het
Prep T C 10: 45,029,207 (GRCm39) Y536H probably benign Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Tollip C T 7: 141,445,854 (GRCm39) R9H probably damaging Het
Vmn2r57 A T 7: 41,077,363 (GRCm39) S268T probably damaging Het
Vps51 A G 19: 6,120,497 (GRCm39) V472A possibly damaging Het
Zfp608 C A 18: 55,031,569 (GRCm39) K790N probably damaging Het
Zfp661 A G 2: 127,418,982 (GRCm39) V386A 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
IGL02939:Tmtc2 APN 10 105,206,411 (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
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
Predicted Primers PCR Primer
(F):5'- ATAGTGACCTTTGTCCTGGGC -3'
(R):5'- ATGGGAATCGTGCCTGAGAG -3'

Sequencing Primer
(F):5'- TTGAAGTCGCCCTTGAGC -3'
(R):5'- AATCGTGCCTGAGAGGTTGAG -3'
Posted On 2016-07-22