Incidental Mutation 'R5897:Tmtc2'
ID 457599
Institutional Source Beutler Lab
Gene Symbol Tmtc2
Ensembl Gene ENSMUSG00000036019
Gene Name transmembrane and tetratricopeptide repeat containing 2
Synonyms 8430438D04Rik, D330034A10Rik
MMRRC Submission 044096-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R5897 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 105023524-105410312 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105249459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 91 (N91K)
Ref Sequence ENSEMBL: ENSMUSP00000061919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061506]
AlphaFold Q56A06
Predicted Effect probably damaging
Transcript: ENSMUST00000061506
AA Change: N91K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061919
Gene: ENSMUSG00000036019
AA Change: N91K

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: ENSMUST00000139741
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143691
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.7%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,425,032 (GRCm39) T489A possibly damaging Het
Adam3 T C 8: 25,187,244 (GRCm39) T416A probably benign Het
Agbl3 A G 6: 34,780,508 (GRCm39) I494V probably benign Het
Akap9 T C 5: 4,127,904 (GRCm39) S3747P probably benign Het
Arhgef18 G T 8: 3,489,682 (GRCm39) R338L probably damaging Het
Atg16l1 G T 1: 87,713,719 (GRCm39) probably null Het
BC024139 A G 15: 76,010,339 (GRCm39) S56P possibly damaging Het
Ccdc121 T C 5: 31,643,308 (GRCm39) probably benign Het
Ccdc175 T A 12: 72,206,578 (GRCm39) I223L probably benign Het
Cdcp3 A T 7: 130,798,280 (GRCm39) probably null Het
Cep76 T A 18: 67,771,398 (GRCm39) Q78L probably benign Het
Cyp20a1 A C 1: 60,392,220 (GRCm39) N92T probably damaging Het
Cyp2c68 T C 19: 39,700,975 (GRCm39) D281G probably benign Het
Cyp2j12 T C 4: 95,990,279 (GRCm39) N429S probably damaging Het
Dchs2 G A 3: 83,192,717 (GRCm39) V1721I possibly damaging Het
Elovl4 G A 9: 83,672,157 (GRCm39) T54M possibly damaging Het
Fam13b A G 18: 34,587,134 (GRCm39) V542A possibly damaging Het
Gje1 A T 10: 14,592,467 (GRCm39) I105N probably damaging Het
Grm4 G T 17: 27,654,137 (GRCm39) F349L probably benign Het
Hsd17b3 A G 13: 64,236,799 (GRCm39) probably null Het
Khdrbs1 A T 4: 129,614,448 (GRCm39) D368E probably benign Het
Klra10 T A 6: 130,258,792 (GRCm39) R32* probably null Het
Lrrc7 T A 3: 157,869,990 (GRCm39) I644F probably damaging Het
Or2i1 A T 17: 37,508,151 (GRCm39) L161Q probably damaging Het
Or2t1 G T 14: 14,328,120 (GRCm38) G3V probably benign Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pbx3 A T 2: 34,261,920 (GRCm39) S5T probably benign Het
Pcdhb13 T A 18: 37,576,264 (GRCm39) V214E probably benign Het
Pkd1l1 T C 11: 8,829,176 (GRCm39) D1022G probably benign Het
Pla2g4a T A 1: 149,740,899 (GRCm39) K380I probably damaging Het
Prl3b1 A G 13: 27,429,858 (GRCm39) T99A probably benign Het
Prr12 C T 7: 44,692,808 (GRCm39) V1575I probably damaging Het
Ptpn5 C T 7: 46,729,262 (GRCm39) V451I probably benign Het
Rab1a C T 11: 20,168,867 (GRCm39) R51* probably null Het
Skint9 A G 4: 112,271,113 (GRCm39) I99T possibly damaging Het
Tbc1d8 A G 1: 39,431,190 (GRCm39) V394A possibly damaging Het
Tcf20 A T 15: 82,735,984 (GRCm39) C1822* probably null Het
Tdrd6 T A 17: 43,935,768 (GRCm39) D1760V probably damaging Het
Tinag C A 9: 76,952,726 (GRCm39) C86F probably damaging Het
Tmub1 G A 5: 24,651,925 (GRCm39) T13M probably benign Het
Txn2 G A 15: 77,808,726 (GRCm39) A135V probably benign Het
Ush2a G A 1: 188,553,935 (GRCm39) G3475R probably damaging Het
Usp38 T C 8: 81,732,082 (GRCm39) D276G probably benign Het
Vax1 T A 19: 59,158,233 (GRCm39) I77F unknown Het
Vmn2r108 C T 17: 20,691,580 (GRCm39) M314I probably benign Het
Vmn2r4 C A 3: 64,322,687 (GRCm39) G11* probably null Het
Zcchc14 T C 8: 122,331,899 (GRCm39) probably benign 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
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
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'- TAGCCTCTTGTAGAACAGTGC -3'
(R):5'- CAGCCGTGCTATCAAGACTAATC -3'

Sequencing Primer
(F):5'- GCCTCTTGTAGAACAGTGCTTAATG -3'
(R):5'- GTGCTATCAAGACTAATCAAGACCTC -3'
Posted On 2017-02-15