Incidental Mutation 'R7404:Tmcc2'
ID 574388
Institutional Source Beutler Lab
Gene Symbol Tmcc2
Ensembl Gene ENSMUSG00000042066
Gene Name transmembrane and coiled-coil domains 2
Synonyms 1110063G11Rik
MMRRC Submission 045486-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # R7404 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 132284053-132319019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 132288759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 309 (D309E)
Ref Sequence ENSEMBL: ENSMUSP00000038369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045473] [ENSMUST00000132435] [ENSMUST00000142609]
AlphaFold Q80W04
Predicted Effect probably damaging
Transcript: ENSMUST00000045473
AA Change: D309E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038369
Gene: ENSMUSG00000042066
AA Change: D309E

DomainStartEndE-ValueType
low complexity region 7 25 N/A INTRINSIC
low complexity region 89 99 N/A INTRINSIC
low complexity region 100 112 N/A INTRINSIC
low complexity region 164 183 N/A INTRINSIC
low complexity region 253 267 N/A INTRINSIC
Pfam:Tmemb_cc2 283 694 6.3e-178 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000132435
AA Change: D231E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118844
Gene: ENSMUSG00000042066
AA Change: D231E

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
low complexity region 22 34 N/A INTRINSIC
low complexity region 86 105 N/A INTRINSIC
low complexity region 175 189 N/A INTRINSIC
Pfam:Tmemb_cc2 203 617 1.1e-193 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142609
AA Change: D74E

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000115721
Gene: ENSMUSG00000042066
AA Change: D74E

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:Tmemb_cc2 46 460 2.2e-194 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (92/93)
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 C T 18: 61,955,099 (GRCm39) A297T probably damaging Het
Adprhl1 T A 8: 13,275,118 (GRCm39) S547C probably damaging Het
Ankrd63 G C 2: 118,533,793 (GRCm39) R43G unknown Het
Asah2 T C 19: 32,035,254 (GRCm39) T24A probably benign Het
Asb17 G A 3: 153,550,447 (GRCm39) probably null Het
Atp8b5 C T 4: 43,342,640 (GRCm39) T437I probably benign Het
Bbs2 T C 8: 94,808,992 (GRCm39) D311G probably damaging Het
Birc6 C T 17: 74,946,789 (GRCm39) T2851I possibly damaging Het
Bnip5 G A 17: 29,124,298 (GRCm39) R335W probably damaging Het
Cchcr1 T C 17: 35,835,693 (GRCm39) W266R probably benign Het
Col14a1 C A 15: 55,252,024 (GRCm39) S560* probably null Het
Crocc G A 4: 140,753,497 (GRCm39) T1317M possibly damaging Het
Cxxc1 T A 18: 74,352,278 (GRCm39) V334E possibly damaging Het
Cyp3a25 T A 5: 145,923,635 (GRCm39) D336V probably damaging Het
Dapk1 A G 13: 60,867,455 (GRCm39) T221A probably benign Het
Dnah11 G T 12: 118,068,543 (GRCm39) T1605K probably benign Het
Dnah7c T C 1: 46,705,223 (GRCm39) V2412A possibly damaging Het
Ect2l T A 10: 18,035,529 (GRCm39) D524V probably damaging Het
Ehbp1l1 T C 19: 5,770,872 (GRCm39) E223G possibly damaging Het
Ephb2 A T 4: 136,498,524 (GRCm39) M185K probably damaging Het
Fcer1a T C 1: 173,049,083 (GRCm39) K243E probably damaging Het
Fcgbp T A 7: 27,800,932 (GRCm39) I1326N probably damaging Het
Fgfr1 T C 8: 26,045,566 (GRCm39) V45A probably benign Het
Filip1 T A 9: 79,727,380 (GRCm39) E413V possibly damaging Het
Frs3 T C 17: 48,013,651 (GRCm39) probably null Het
Fstl4 A G 11: 53,024,898 (GRCm39) T257A probably benign Het
Golga5 A T 12: 102,450,778 (GRCm39) K477M probably damaging Het
Gpr171 A T 3: 59,005,622 (GRCm39) I51K probably damaging Het
H1f0 T A 15: 78,913,080 (GRCm39) Y53* probably null Het
Hephl1 A G 9: 14,981,047 (GRCm39) V795A possibly damaging Het
Hmcn1 A T 1: 150,596,510 (GRCm39) D1775E probably benign Het
Hs3st2 A G 7: 121,100,168 (GRCm39) D338G possibly damaging Het
Hsd3b6 T A 3: 98,713,534 (GRCm39) Y255F probably benign Het
Hspa9 T C 18: 35,076,329 (GRCm39) N328D possibly damaging Het
Hvcn1 T A 5: 122,375,748 (GRCm39) I100N probably damaging Het
Ifi207 C T 1: 173,556,494 (GRCm39) S748N possibly damaging Het
Katnip A T 7: 125,464,434 (GRCm39) N1267I probably damaging Het
Kcnma1 G T 14: 24,052,902 (GRCm39) T180K unknown Het
Kctd16 A G 18: 40,391,826 (GRCm39) D138G probably damaging Het
Kifc3 A G 8: 95,830,092 (GRCm39) Y605H probably benign Het
Kmt2d T A 15: 98,743,376 (GRCm39) Q3928L unknown Het
Lamb2 C T 9: 108,364,782 (GRCm39) R1179C probably damaging Het
Layn T A 9: 50,968,670 (GRCm39) I358F possibly damaging Het
Lrig1 G A 6: 94,603,452 (GRCm39) T232M probably damaging Het
Lrp1 T C 10: 127,418,577 (GRCm39) T38A Het
Map3k14 A G 11: 103,129,918 (GRCm39) V333A probably benign Het
Med13 T C 11: 86,177,272 (GRCm39) D1608G possibly damaging Het
Mrps31 T G 8: 22,911,429 (GRCm39) S224A probably benign Het
Msh6 G T 17: 88,282,548 (GRCm39) Het
Ncapd3 A G 9: 26,978,315 (GRCm39) D838G probably benign Het
Nlrp1a C A 11: 70,987,919 (GRCm39) E1184* probably null Het
Npat T A 9: 53,466,233 (GRCm39) probably null Het
Nup210 A T 6: 91,050,227 (GRCm39) I414N probably benign Het
Or1e19 A T 11: 73,316,419 (GRCm39) L130H probably damaging Het
Or52n2 A T 7: 104,542,181 (GRCm39) V218E possibly damaging Het
Or5b122 T A 19: 13,562,752 (GRCm39) I28N possibly damaging Het
Or5h19 T C 16: 58,856,603 (GRCm39) T166A possibly damaging Het
Or6z5 T C 7: 6,477,163 (GRCm39) L18P probably damaging Het
Or8b12c A T 9: 37,715,257 (GRCm39) T17S possibly damaging Het
Or8h7 A C 2: 86,721,217 (GRCm39) L101V probably benign Het
Otud7b G C 3: 96,043,936 (GRCm39) probably null Het
Phf11d A C 14: 59,596,942 (GRCm39) W86G probably benign Het
Pik3c2b T A 1: 133,018,444 (GRCm39) S964T probably damaging Het
Pira1 T C 7: 3,742,344 (GRCm39) Y61C probably damaging Het
Plod3 G A 5: 137,023,901 (GRCm39) V687I probably benign Het
Poglut1 T G 16: 38,358,284 (GRCm39) Y208S possibly damaging Het
Pou1f1 T A 16: 65,330,749 (GRCm39) L253H probably damaging Het
Pou2f1 C T 1: 165,738,955 (GRCm39) A166T unknown Het
Rhbdl3 C T 11: 80,237,659 (GRCm39) S297L probably damaging Het
Rxra A T 2: 27,631,866 (GRCm39) N179I probably damaging Het
Ryr2 C T 13: 11,750,506 (GRCm39) E1922K probably damaging Het
Scube1 T C 15: 83,499,211 (GRCm39) Y668C probably damaging Het
Sec16b A G 1: 157,358,927 (GRCm39) Y120C probably damaging Het
Sec61b G T 4: 47,483,047 (GRCm39) K92N probably damaging Het
Skic3 T A 13: 76,296,866 (GRCm39) Y1074* probably null Het
Slc13a3 T C 2: 165,275,984 (GRCm39) N254S possibly damaging Het
Slc17a7 T A 7: 44,822,354 (GRCm39) Y397N probably benign Het
Slc25a3 A G 10: 90,952,902 (GRCm39) V333A possibly damaging Het
Slc7a8 A T 14: 54,964,283 (GRCm39) V390E probably damaging Het
Sorbs2 G A 8: 46,212,233 (GRCm39) probably null Het
Srgap1 T C 10: 121,621,650 (GRCm39) N948D probably benign Het
Tacc2 A T 7: 130,225,066 (GRCm39) T584S probably benign Het
Tec A T 5: 72,920,961 (GRCm39) D471E probably damaging Het
Tecpr2 C T 12: 110,898,038 (GRCm39) A430V probably benign Het
Tmem82 G A 4: 141,344,742 (GRCm39) A67V possibly damaging Het
Ttc23l T C 15: 10,551,663 (GRCm39) Q21R probably damaging Het
Ubl3 A G 5: 148,448,764 (GRCm39) F26L probably damaging Het
Upf2 A G 2: 6,045,014 (GRCm39) E1088G unknown Het
Usp9y T A Y: 1,341,780 (GRCm39) I1362F probably benign Het
Wnk4 T A 11: 101,159,318 (GRCm39) probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Zfc3h1 T A 10: 115,251,153 (GRCm39) V1248D probably damaging Het
Zfp12 T A 5: 143,226,099 (GRCm39) V56D probably damaging Het
Other mutations in Tmcc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Tmcc2 APN 1 132,308,436 (GRCm39) missense probably benign
IGL01991:Tmcc2 APN 1 132,288,830 (GRCm39) missense probably benign 0.25
IGL02259:Tmcc2 APN 1 132,288,898 (GRCm39) missense probably benign
IGL02310:Tmcc2 APN 1 132,286,645 (GRCm39) missense probably damaging 1.00
IGL02551:Tmcc2 APN 1 132,285,317 (GRCm39) missense probably damaging 1.00
IGL03301:Tmcc2 APN 1 132,288,557 (GRCm39) missense possibly damaging 0.95
IGL03347:Tmcc2 APN 1 132,285,390 (GRCm39) missense probably damaging 1.00
R0131:Tmcc2 UTSW 1 132,308,444 (GRCm39) missense probably benign 0.10
R0233:Tmcc2 UTSW 1 132,288,389 (GRCm39) missense probably damaging 0.99
R0233:Tmcc2 UTSW 1 132,288,389 (GRCm39) missense probably damaging 0.99
R1146:Tmcc2 UTSW 1 132,285,493 (GRCm39) small deletion probably benign
R1146:Tmcc2 UTSW 1 132,285,493 (GRCm39) small deletion probably benign
R1538:Tmcc2 UTSW 1 132,308,718 (GRCm39) missense probably damaging 0.98
R2428:Tmcc2 UTSW 1 132,288,569 (GRCm39) missense probably damaging 1.00
R3907:Tmcc2 UTSW 1 132,288,376 (GRCm39) missense probably damaging 1.00
R4890:Tmcc2 UTSW 1 132,308,517 (GRCm39) missense probably benign 0.43
R5364:Tmcc2 UTSW 1 132,285,534 (GRCm39) missense probably damaging 1.00
R5567:Tmcc2 UTSW 1 132,285,543 (GRCm39) missense probably benign 0.01
R5596:Tmcc2 UTSW 1 132,288,221 (GRCm39) missense probably damaging 1.00
R5916:Tmcc2 UTSW 1 132,285,429 (GRCm39) missense probably damaging 0.98
R5931:Tmcc2 UTSW 1 132,285,493 (GRCm39) small deletion probably benign
R6278:Tmcc2 UTSW 1 132,286,720 (GRCm39) missense probably damaging 0.99
R7806:Tmcc2 UTSW 1 132,288,527 (GRCm39) missense probably damaging 1.00
R7848:Tmcc2 UTSW 1 132,288,359 (GRCm39) missense probably damaging 1.00
R7903:Tmcc2 UTSW 1 132,288,199 (GRCm39) missense probably benign 0.00
R9458:Tmcc2 UTSW 1 132,286,747 (GRCm39) missense probably damaging 1.00
RF012:Tmcc2 UTSW 1 132,288,756 (GRCm39) missense probably damaging 1.00
X0052:Tmcc2 UTSW 1 132,288,071 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCTTGCTGCATATCGCGTAG -3'
(R):5'- TATGCAGAGAACCTAGCCTAGCC -3'

Sequencing Primer
(F):5'- CACATCCTTGGGCTGCC -3'
(R):5'- AGATCTTGTGGCCCTGAGC -3'
Posted On 2019-09-13