Incidental Mutation 'R2517:Tecr'
ID 253938
Institutional Source Beutler Lab
Gene Symbol Tecr
Ensembl Gene ENSMUSG00000031708
Gene Name trans-2,3-enoyl-CoA reductase
Synonyms Gpsn2, 2410016D23Rik, D17Ertd178e, A230102P12Rik, SC2
MMRRC Submission 040421-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2517 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 84298327-84321120 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 84299204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 248 (V248I)
Ref Sequence ENSEMBL: ENSMUSP00000128329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019382] [ENSMUST00000036996] [ENSMUST00000163837] [ENSMUST00000165740] [ENSMUST00000212703] [ENSMUST00000212990] [ENSMUST00000212005] [ENSMUST00000212630]
AlphaFold Q9CY27
Predicted Effect probably benign
Transcript: ENSMUST00000019382
AA Change: V194I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000019382
Gene: ENSMUSG00000031708
AA Change: V194I

DomainStartEndE-ValueType
PDB:2DZJ|A 1 81 2e-49 PDB
Blast:UBQ 5 81 8e-13 BLAST
transmembrane domain 85 107 N/A INTRINSIC
Pfam:Steroid_dh 154 308 3.4e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000036996
SMART Domains Protein: ENSMUSP00000037341
Gene: ENSMUSG00000033938

DomainStartEndE-ValueType
Pfam:NDUF_B7 40 102 3.8e-32 PFAM
low complexity region 103 136 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127162
Predicted Effect probably benign
Transcript: ENSMUST00000163837
AA Change: V248I

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000128329
Gene: ENSMUSG00000031708
AA Change: V248I

DomainStartEndE-ValueType
PDB:2DZJ|A 1 135 2e-27 PDB
Blast:UBQ 91 135 1e-7 BLAST
transmembrane domain 139 161 N/A INTRINSIC
Pfam:Steroid_dh 208 362 6e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165740
AA Change: V179I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000131389
Gene: ENSMUSG00000031708
AA Change: V179I

DomainStartEndE-ValueType
PDB:2DZJ|A 1 66 1e-31 PDB
transmembrane domain 70 92 N/A INTRINSIC
Pfam:Steroid_dh 139 293 3.6e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211972
Predicted Effect probably benign
Transcript: ENSMUST00000212703
AA Change: V63I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000212990
AA Change: V63I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect silent
Transcript: ENSMUST00000212005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212187
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212418
Predicted Effect probably benign
Transcript: ENSMUST00000212630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212136
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 C A 14: 56,019,403 (GRCm39) E82D probably damaging Het
Ago1 G A 4: 126,333,732 (GRCm39) R486* probably null Het
Ago2 T A 15: 72,996,091 (GRCm39) N346I possibly damaging Het
Apol11a A T 15: 77,401,395 (GRCm39) D294V probably benign Het
Atp13a5 A G 16: 29,116,215 (GRCm39) F634L possibly damaging Het
Atp2a2 G A 5: 122,595,576 (GRCm39) P953L probably damaging Het
Brca2 A G 5: 150,463,137 (GRCm39) D967G probably benign Het
Bud13 A T 9: 46,199,446 (GRCm39) H269L probably benign Het
Cachd1 A T 4: 100,838,079 (GRCm39) probably null Het
Cog3 T C 14: 75,979,182 (GRCm39) D188G probably benign Het
Col15a1 T C 4: 47,208,492 (GRCm39) S20P probably damaging Het
Col4a3 A G 1: 82,658,431 (GRCm39) D838G unknown Het
Cwh43 A T 5: 73,578,886 (GRCm39) T298S probably benign Het
Dip2c A G 13: 9,659,041 (GRCm39) R847G probably damaging Het
Dnah2 C T 11: 69,407,470 (GRCm39) D438N probably damaging Het
Drg2 T C 11: 60,358,954 (GRCm39) V358A probably damaging Het
Eif4enif1 T A 11: 3,171,168 (GRCm39) W220R probably damaging Het
Enpp2 A T 15: 54,783,090 (GRCm39) I75K probably damaging Het
Fam110c T C 12: 31,125,238 (GRCm39) I400T probably damaging Het
Fam193b C A 13: 55,690,629 (GRCm39) R711L probably damaging Het
Fgfr1 T C 8: 26,053,462 (GRCm39) Y246H probably damaging Het
Frs3 G A 17: 48,013,997 (GRCm39) R230Q probably benign Het
Galnt5 A G 2: 57,889,425 (GRCm39) K342E probably benign Het
Glrb A T 3: 80,769,054 (GRCm39) L189Q probably damaging Het
Gmeb2 T C 2: 180,900,819 (GRCm39) T193A probably benign Het
Gnl3 A G 14: 30,736,120 (GRCm39) S307P probably damaging Het
Golim4 A T 3: 75,800,166 (GRCm39) F443I probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Klf10 A C 15: 38,297,357 (GRCm39) Y228D probably benign Het
Klrc3 A T 6: 129,616,520 (GRCm39) W166R probably damaging Het
Kng2 A T 16: 22,807,065 (GRCm39) I378N probably benign Het
Map3k10 T C 7: 27,362,688 (GRCm39) K466R possibly damaging Het
Mrrf C T 2: 36,079,109 (GRCm39) T245M probably benign Het
Msi1 A G 5: 115,583,517 (GRCm39) Y239C probably damaging Het
Nfasc A G 1: 132,525,501 (GRCm39) probably null Het
Or1x6 T A 11: 50,939,300 (GRCm39) L122Q probably damaging Het
Or7g25 A T 9: 19,160,357 (GRCm39) C113S probably benign Het
P3r3urf A G 4: 116,030,791 (GRCm39) D65G probably benign Het
Pkd1l1 T C 11: 8,908,900 (GRCm39) E368G unknown Het
Polq G A 16: 36,909,687 (GRCm39) G2078D probably damaging Het
Ppfibp1 A C 6: 146,893,942 (GRCm39) I134L probably damaging Het
Rasip1 A T 7: 45,284,247 (GRCm39) I608F probably damaging Het
Ripk3 A T 14: 56,025,492 (GRCm39) V24E probably damaging Het
Rtkn T A 6: 83,124,526 (GRCm39) I110N probably damaging Het
Scn1a C T 2: 66,104,176 (GRCm39) V1695I probably damaging Het
Shank2 A G 7: 143,606,042 (GRCm39) N75S possibly damaging Het
Snu13 C A 15: 81,928,182 (GRCm39) A14S probably benign Het
Snx27 A C 3: 94,438,541 (GRCm39) D231E probably damaging Het
Spef2 A G 15: 9,725,283 (GRCm39) I158T possibly damaging Het
Sptb A G 12: 76,696,643 (GRCm39) I19T possibly damaging Het
Ssu72 T C 4: 155,817,970 (GRCm39) L175P probably damaging Het
Tcstv2a T A 13: 120,725,475 (GRCm39) C46* probably null Het
Tnfrsf13b T G 11: 61,032,302 (GRCm39) S59A probably benign Het
Tom1l1 T C 11: 90,561,951 (GRCm39) T150A possibly damaging Het
Ubr3 A T 2: 69,766,362 (GRCm39) Y410F probably damaging Het
Vmn2r108 A G 17: 20,692,577 (GRCm39) I93T probably damaging Het
Vmn2r19 A G 6: 123,306,937 (GRCm39) T482A probably benign Het
Vstm4 T A 14: 32,585,664 (GRCm39) M77K probably benign Het
Zbtb17 C T 4: 141,191,896 (GRCm39) T309I probably damaging Het
Zfp957 T C 14: 79,451,494 (GRCm39) T102A probably damaging Het
Other mutations in Tecr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02240:Tecr APN 8 84,300,045 (GRCm39) missense probably damaging 0.97
PIT4810001:Tecr UTSW 8 84,298,884 (GRCm39) missense probably damaging 1.00
R0322:Tecr UTSW 8 84,298,872 (GRCm39) missense probably damaging 0.99
R0349:Tecr UTSW 8 84,298,904 (GRCm39) missense probably damaging 1.00
R0708:Tecr UTSW 8 84,299,738 (GRCm39) missense probably damaging 0.97
R7331:Tecr UTSW 8 84,298,564 (GRCm39) missense probably damaging 1.00
R8234:Tecr UTSW 8 84,299,880 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- GGATAAGAGTAGGTCAGACCCC -3'
(R):5'- CACCTACTATTGGGGCTTTGC -3'

Sequencing Primer
(F):5'- AGTAGGTCAGACCCCCTCCTC -3'
(R):5'- CTGCATGGATGGCTTATTACATC -3'
Posted On 2014-12-04