Incidental Mutation 'R2221:Ctu2'
ID 241497
Institutional Source Beutler Lab
Gene Symbol Ctu2
Ensembl Gene ENSMUSG00000049482
Gene Name cytosolic thiouridylase subunit 2
Synonyms 2310061F22Rik
MMRRC Submission 040223-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2221 (G1)
Quality Score 191
Status Validated
Chromosome 8
Chromosomal Location 123202882-123209831 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123207649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 375 (E375G)
Ref Sequence ENSEMBL: ENSMUSP00000112113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014614] [ENSMUST00000067252] [ENSMUST00000116412] [ENSMUST00000127664] [ENSMUST00000128383] [ENSMUST00000151855] [ENSMUST00000146634] [ENSMUST00000156333] [ENSMUST00000136253] [ENSMUST00000134127]
AlphaFold Q3U308
Predicted Effect probably benign
Transcript: ENSMUST00000014614
SMART Domains Protein: ENSMUSP00000014614
Gene: ENSMUSG00000014470

DomainStartEndE-ValueType
RING 33 72 3.29e-5 SMART
ZnF_C2H2 150 173 7.05e-1 SMART
ZnF_C2H2 180 208 9.56e1 SMART
low complexity region 222 236 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000067252
SMART Domains Protein: ENSMUSP00000089777
Gene: ENSMUSG00000014444

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
transmembrane domain 29 46 N/A INTRINSIC
transmembrane domain 59 81 N/A INTRINSIC
transmembrane domain 121 143 N/A INTRINSIC
low complexity region 156 169 N/A INTRINSIC
transmembrane domain 211 233 N/A INTRINSIC
transmembrane domain 248 270 N/A INTRINSIC
transmembrane domain 316 333 N/A INTRINSIC
low complexity region 353 368 N/A INTRINSIC
low complexity region 396 408 N/A INTRINSIC
transmembrane domain 433 455 N/A INTRINSIC
transmembrane domain 468 490 N/A INTRINSIC
transmembrane domain 513 535 N/A INTRINSIC
internal_repeat_1 541 658 5.31e-5 PROSPERO
transmembrane domain 685 707 N/A INTRINSIC
low complexity region 738 753 N/A INTRINSIC
transmembrane domain 817 839 N/A INTRINSIC
transmembrane domain 844 866 N/A INTRINSIC
low complexity region 940 952 N/A INTRINSIC
transmembrane domain 979 1001 N/A INTRINSIC
transmembrane domain 1005 1022 N/A INTRINSIC
transmembrane domain 1035 1057 N/A INTRINSIC
transmembrane domain 1154 1171 N/A INTRINSIC
transmembrane domain 1178 1197 N/A INTRINSIC
Pfam:PIEZO 1229 1458 1.1e-97 PFAM
low complexity region 1475 1486 N/A INTRINSIC
internal_repeat_1 1646 1752 5.31e-5 PROSPERO
low complexity region 1905 1921 N/A INTRINSIC
transmembrane domain 1976 1998 N/A INTRINSIC
transmembrane domain 2018 2038 N/A INTRINSIC
transmembrane domain 2045 2067 N/A INTRINSIC
transmembrane domain 2077 2094 N/A INTRINSIC
Pfam:Piezo_RRas_bdg 2126 2544 3.2e-157 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000116412
AA Change: E375G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112113
Gene: ENSMUSG00000049482
AA Change: E375G

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
SCOP:d1sur__ 47 153 1e-3 SMART
Pfam:CTU2 347 470 2.3e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126553
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128383
SMART Domains Protein: ENSMUSP00000116194
Gene: ENSMUSG00000014444

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
transmembrane domain 31 53 N/A INTRINSIC
transmembrane domain 75 97 N/A INTRINSIC
transmembrane domain 143 165 N/A INTRINSIC
transmembrane domain 169 188 N/A INTRINSIC
transmembrane domain 195 217 N/A INTRINSIC
transmembrane domain 247 269 N/A INTRINSIC
low complexity region 300 315 N/A INTRINSIC
transmembrane domain 379 401 N/A INTRINSIC
transmembrane domain 406 428 N/A INTRINSIC
low complexity region 502 514 N/A INTRINSIC
transmembrane domain 541 563 N/A INTRINSIC
transmembrane domain 567 584 N/A INTRINSIC
transmembrane domain 597 619 N/A INTRINSIC
transmembrane domain 716 733 N/A INTRINSIC
transmembrane domain 740 759 N/A INTRINSIC
transmembrane domain 774 796 N/A INTRINSIC
transmembrane domain 803 820 N/A INTRINSIC
low complexity region 848 859 N/A INTRINSIC
coiled coil region 895 926 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000151855
AA Change: E375G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133622
Gene: ENSMUSG00000049482
AA Change: E375G

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
SCOP:d1sur__ 47 153 9e-4 SMART
Pfam:DUF2392 277 377 1.7e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155803
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131934
Predicted Effect probably benign
Transcript: ENSMUST00000212499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149925
Predicted Effect probably benign
Transcript: ENSMUST00000146634
SMART Domains Protein: ENSMUSP00000119931
Gene: ENSMUSG00000049482

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
low complexity region 78 87 N/A INTRINSIC
low complexity region 96 104 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156333
SMART Domains Protein: ENSMUSP00000114584
Gene: ENSMUSG00000014444

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
transmembrane domain 29 46 N/A INTRINSIC
transmembrane domain 59 81 N/A INTRINSIC
transmembrane domain 121 143 N/A INTRINSIC
low complexity region 157 170 N/A INTRINSIC
transmembrane domain 212 234 N/A INTRINSIC
transmembrane domain 249 271 N/A INTRINSIC
transmembrane domain 317 334 N/A INTRINSIC
low complexity region 354 369 N/A INTRINSIC
low complexity region 397 409 N/A INTRINSIC
transmembrane domain 434 456 N/A INTRINSIC
transmembrane domain 469 491 N/A INTRINSIC
transmembrane domain 514 536 N/A INTRINSIC
internal_repeat_1 542 659 4.88e-5 PROSPERO
transmembrane domain 686 708 N/A INTRINSIC
low complexity region 739 754 N/A INTRINSIC
transmembrane domain 818 840 N/A INTRINSIC
transmembrane domain 845 867 N/A INTRINSIC
low complexity region 941 953 N/A INTRINSIC
transmembrane domain 980 1002 N/A INTRINSIC
transmembrane domain 1006 1023 N/A INTRINSIC
transmembrane domain 1036 1058 N/A INTRINSIC
transmembrane domain 1155 1172 N/A INTRINSIC
transmembrane domain 1179 1198 N/A INTRINSIC
Pfam:PIEZO 1230 1459 2.3e-94 PFAM
low complexity region 1476 1487 N/A INTRINSIC
internal_repeat_1 1647 1753 4.88e-5 PROSPERO
low complexity region 1906 1922 N/A INTRINSIC
transmembrane domain 1977 1999 N/A INTRINSIC
transmembrane domain 2019 2039 N/A INTRINSIC
transmembrane domain 2046 2068 N/A INTRINSIC
transmembrane domain 2078 2095 N/A INTRINSIC
Pfam:Piezo_RRas_bdg 2127 2545 8.7e-154 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136253
Predicted Effect probably benign
Transcript: ENSMUST00000134127
SMART Domains Protein: ENSMUSP00000119237
Gene: ENSMUSG00000049482

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
SCOP:d1sur__ 25 128 4e-4 SMART
Meta Mutation Damage Score 0.6840 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A C 4: 86,306,762 (GRCm39) D1392A probably benign Het
Afdn T C 17: 14,103,999 (GRCm39) probably benign Het
Aph1b A T 9: 66,691,921 (GRCm39) M121K probably damaging Het
Aspg G A 12: 112,080,868 (GRCm39) A120T probably damaging Het
Bicd1 A G 6: 149,418,503 (GRCm39) T725A probably damaging Het
Cd1d2 A T 3: 86,895,847 (GRCm39) I292F probably damaging Het
Cdcp3 A T 7: 130,849,186 (GRCm39) probably null Het
Cdk13 A G 13: 17,894,120 (GRCm39) V495A probably damaging Het
Cfd A T 10: 79,728,039 (GRCm39) probably null Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Cradd A C 10: 95,011,735 (GRCm39) V135G probably benign Het
Cry1 A G 10: 84,979,617 (GRCm39) C460R probably damaging Het
Dym T G 18: 75,363,236 (GRCm39) I580S probably damaging Het
Eif3e A G 15: 43,114,943 (GRCm39) L411P possibly damaging Het
Emsy T C 7: 98,239,982 (GRCm39) E1091G possibly damaging Het
Enkur A G 2: 21,194,130 (GRCm39) probably benign Het
Fam184a G A 10: 53,531,175 (GRCm39) T733M probably damaging Het
Frem2 G A 3: 53,424,278 (GRCm39) A3053V probably benign Het
Gbgt1 T C 2: 28,388,435 (GRCm39) L40P probably damaging Het
Gm5174 T A 10: 86,492,372 (GRCm39) noncoding transcript Het
Gys2 G T 6: 142,402,148 (GRCm39) D230E probably damaging Het
Herc2 T A 7: 55,818,766 (GRCm39) probably null Het
Hps3 A T 3: 20,056,527 (GRCm39) S815R probably benign Het
Igf1r C A 7: 67,851,710 (GRCm39) S983R probably damaging Het
Itsn1 T A 16: 91,650,656 (GRCm39) probably benign Het
Kcnc2 A G 10: 112,292,431 (GRCm39) N91D probably damaging Het
Kif28 C A 1: 179,560,676 (GRCm39) A210S possibly damaging Het
Klri2 T A 6: 129,717,272 (GRCm39) Q37L probably damaging Het
Lrrc38 T A 4: 143,096,419 (GRCm39) C243* probably null Het
Map3k5 T C 10: 19,943,666 (GRCm39) V590A possibly damaging Het
Mdn1 C A 4: 32,763,306 (GRCm39) F5135L probably benign Het
Megf11 G A 9: 64,567,713 (GRCm39) G401S possibly damaging Het
Mst1r T C 9: 107,785,547 (GRCm39) F402L probably damaging Het
Ntrk3 T C 7: 77,848,600 (GRCm39) I759V probably damaging Het
Nup188 T C 2: 30,226,936 (GRCm39) probably benign Het
Or4a71 C T 2: 89,358,281 (GRCm39) V158I probably benign Het
Or8b12i T C 9: 20,082,388 (GRCm39) S160G possibly damaging Het
Prdm2 T C 4: 142,861,469 (GRCm39) N607S possibly damaging Het
Prl2a1 T A 13: 27,990,369 (GRCm39) probably null Het
Serpina9 T A 12: 103,964,523 (GRCm39) I305F probably damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc19a1 C T 10: 76,878,320 (GRCm39) T285I probably benign Het
Snap91 T C 9: 86,674,580 (GRCm39) T544A possibly damaging Het
Srgap3 A G 6: 112,923,454 (GRCm39) S2P probably damaging Het
Tcof1 A G 18: 60,970,973 (GRCm39) V210A possibly damaging Het
Tex261 A G 6: 83,748,497 (GRCm39) I136T probably benign Het
Trpa1 A T 1: 14,973,480 (GRCm39) F279L probably null Het
Ttc39b T C 4: 83,150,999 (GRCm39) N532S probably benign Het
Ttn T C 2: 76,572,438 (GRCm39) T26152A probably damaging Het
Ube2w A G 1: 16,668,183 (GRCm39) S97P possibly damaging Het
Vmn1r25 A C 6: 57,956,223 (GRCm39) L22R probably damaging Het
Vmn1r64 T C 7: 5,887,448 (GRCm39) I32V probably benign Het
Vmn2r112 T G 17: 22,820,214 (GRCm39) M29R possibly damaging Het
Vmn2r71 T A 7: 85,273,301 (GRCm39) M705K probably benign Het
Vps13b G A 15: 35,884,743 (GRCm39) V3139I probably benign Het
Zfp628 T C 7: 4,923,830 (GRCm39) V684A probably benign Het
Other mutations in Ctu2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Ctu2 APN 8 123,203,977 (GRCm39) unclassified probably benign
IGL01764:Ctu2 APN 8 123,206,161 (GRCm39) unclassified probably benign
IGL02190:Ctu2 APN 8 123,208,397 (GRCm39) utr 3 prime probably benign
IGL02869:Ctu2 APN 8 123,205,530 (GRCm39) splice site probably null
IGL03136:Ctu2 APN 8 123,205,940 (GRCm39) unclassified probably benign
IGL03139:Ctu2 APN 8 123,205,446 (GRCm39) missense possibly damaging 0.65
IGL03237:Ctu2 APN 8 123,205,792 (GRCm39) missense probably benign 0.00
PIT4354001:Ctu2 UTSW 8 123,205,714 (GRCm39) missense probably damaging 0.99
R0001:Ctu2 UTSW 8 123,205,659 (GRCm39) missense probably benign
R0359:Ctu2 UTSW 8 123,204,932 (GRCm39) missense probably damaging 0.99
R1078:Ctu2 UTSW 8 123,208,238 (GRCm39) missense possibly damaging 0.69
R1938:Ctu2 UTSW 8 123,206,024 (GRCm39) missense probably damaging 1.00
R2143:Ctu2 UTSW 8 123,205,891 (GRCm39) missense probably benign 0.16
R2145:Ctu2 UTSW 8 123,205,891 (GRCm39) missense probably benign 0.16
R4111:Ctu2 UTSW 8 123,203,256 (GRCm39) missense possibly damaging 0.64
R4284:Ctu2 UTSW 8 123,204,978 (GRCm39) missense probably benign 0.04
R4704:Ctu2 UTSW 8 123,206,042 (GRCm39) missense probably damaging 1.00
R4774:Ctu2 UTSW 8 123,207,851 (GRCm39) missense probably benign 0.17
R5254:Ctu2 UTSW 8 123,203,327 (GRCm39) missense probably damaging 1.00
R5804:Ctu2 UTSW 8 123,207,965 (GRCm39) critical splice donor site probably null
R5935:Ctu2 UTSW 8 123,203,693 (GRCm39) unclassified probably benign
R7378:Ctu2 UTSW 8 123,208,238 (GRCm39) missense probably damaging 0.99
R7911:Ctu2 UTSW 8 123,207,733 (GRCm39) missense probably benign 0.01
R8546:Ctu2 UTSW 8 123,206,102 (GRCm39) missense probably damaging 1.00
R8876:Ctu2 UTSW 8 123,206,951 (GRCm39) missense
R9082:Ctu2 UTSW 8 123,203,952 (GRCm39) missense probably damaging 1.00
R9272:Ctu2 UTSW 8 123,206,045 (GRCm39) missense probably benign
R9796:Ctu2 UTSW 8 123,202,989 (GRCm39) missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- CCCTGGGGTGCTGTGTACA -3'
(R):5'- GTCTGCAACAGAGAGGGGCT -3'

Sequencing Primer
(F):5'- ACAGGTGTGTGTGTGCTCCC -3'
(R):5'- CAACAGAGAGGGGCTGAGGG -3'
Posted On 2014-10-15