Incidental Mutation 'PIT4480001:Cntrl'
ID 554844
Institutional Source Beutler Lab
Gene Symbol Cntrl
Ensembl Gene ENSMUSG00000057110
Gene Name centriolin
Synonyms IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # PIT4480001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 34999504-35068834 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35045440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 1383 (H1383Y)
Ref Sequence ENSEMBL: ENSMUSP00000108655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028237] [ENSMUST00000113032] [ENSMUST00000113034] [ENSMUST00000113037] [ENSMUST00000124081] [ENSMUST00000156933]
AlphaFold A2AL36
Predicted Effect possibly damaging
Transcript: ENSMUST00000028237
AA Change: H1384Y

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: H1384Y

DomainStartEndE-ValueType
low complexity region 21 38 N/A INTRINSIC
LRR 146 167 2.54e1 SMART
LRR 168 190 3.24e0 SMART
LRR 192 214 7.16e0 SMART
Blast:LRR 217 239 8e-6 BLAST
low complexity region 275 292 N/A INTRINSIC
coiled coil region 437 800 N/A INTRINSIC
coiled coil region 858 971 N/A INTRINSIC
low complexity region 975 995 N/A INTRINSIC
coiled coil region 998 1102 N/A INTRINSIC
internal_repeat_1 1119 1132 1.95e-5 PROSPERO
low complexity region 1153 1161 N/A INTRINSIC
low complexity region 1268 1301 N/A INTRINSIC
coiled coil region 1320 1629 N/A INTRINSIC
coiled coil region 1661 2155 N/A INTRINSIC
low complexity region 2193 2208 N/A INTRINSIC
internal_repeat_1 2252 2265 1.95e-5 PROSPERO
low complexity region 2289 2307 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113032
AA Change: H1383Y

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: H1383Y

DomainStartEndE-ValueType
low complexity region 20 53 N/A INTRINSIC
coiled coil region 72 381 N/A INTRINSIC
coiled coil region 413 907 N/A INTRINSIC
low complexity region 945 960 N/A INTRINSIC
coiled coil region 989 1011 N/A INTRINSIC
low complexity region 1041 1059 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113034
AA Change: H831Y

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108657
Gene: ENSMUSG00000057110
AA Change: H831Y

DomainStartEndE-ValueType
coiled coil region 1 247 N/A INTRINSIC
internal_repeat_3 261 278 5.68e-5 PROSPERO
coiled coil region 305 418 N/A INTRINSIC
low complexity region 422 442 N/A INTRINSIC
coiled coil region 445 549 N/A INTRINSIC
internal_repeat_1 566 579 1.52e-6 PROSPERO
internal_repeat_2 568 596 2.75e-5 PROSPERO
low complexity region 600 608 N/A INTRINSIC
internal_repeat_2 626 653 2.75e-5 PROSPERO
low complexity region 715 748 N/A INTRINSIC
coiled coil region 767 1076 N/A INTRINSIC
internal_repeat_3 1095 1112 5.68e-5 PROSPERO
low complexity region 1184 1224 N/A INTRINSIC
low complexity region 1344 1356 N/A INTRINSIC
low complexity region 1366 1388 N/A INTRINSIC
low complexity region 1400 1415 N/A INTRINSIC
low complexity region 1421 1432 N/A INTRINSIC
low complexity region 1640 1655 N/A INTRINSIC
internal_repeat_1 1699 1712 1.52e-6 PROSPERO
low complexity region 1736 1754 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113037
AA Change: H830Y

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108660
Gene: ENSMUSG00000057110
AA Change: H830Y

DomainStartEndE-ValueType
coiled coil region 1 247 N/A INTRINSIC
internal_repeat_3 261 278 5.34e-5 PROSPERO
coiled coil region 305 548 N/A INTRINSIC
internal_repeat_1 565 578 1.42e-6 PROSPERO
internal_repeat_2 567 595 2.58e-5 PROSPERO
low complexity region 599 607 N/A INTRINSIC
internal_repeat_2 625 652 2.58e-5 PROSPERO
low complexity region 714 747 N/A INTRINSIC
coiled coil region 766 1075 N/A INTRINSIC
internal_repeat_3 1094 1111 5.34e-5 PROSPERO
low complexity region 1183 1223 N/A INTRINSIC
low complexity region 1343 1355 N/A INTRINSIC
low complexity region 1365 1387 N/A INTRINSIC
low complexity region 1399 1414 N/A INTRINSIC
low complexity region 1420 1431 N/A INTRINSIC
low complexity region 1639 1654 N/A INTRINSIC
internal_repeat_1 1698 1711 1.42e-6 PROSPERO
low complexity region 1735 1753 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124081
SMART Domains Protein: ENSMUSP00000143087
Gene: ENSMUSG00000057110

DomainStartEndE-ValueType
coiled coil region 1 51 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000156933
AA Change: H1384Y

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: H1384Y

DomainStartEndE-ValueType
low complexity region 21 38 N/A INTRINSIC
LRR 146 167 2.54e1 SMART
LRR 168 190 3.24e0 SMART
LRR 192 214 7.16e0 SMART
Blast:LRR 217 239 7e-6 BLAST
low complexity region 275 292 N/A INTRINSIC
coiled coil region 437 800 N/A INTRINSIC
coiled coil region 858 971 N/A INTRINSIC
low complexity region 975 995 N/A INTRINSIC
coiled coil region 998 1102 N/A INTRINSIC
internal_repeat_1 1119 1132 1.65e-5 PROSPERO
low complexity region 1153 1161 N/A INTRINSIC
low complexity region 1268 1301 N/A INTRINSIC
coiled coil region 1320 1629 N/A INTRINSIC
coiled coil region 1661 2155 N/A INTRINSIC
low complexity region 2193 2208 N/A INTRINSIC
internal_repeat_1 2252 2265 1.65e-5 PROSPERO
low complexity region 2289 2307 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.7%
  • 10x: 83.8%
  • 20x: 69.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit cardiac defects, including double outlet right ventricle, atrial septal defects, ventricular septal defects, tricuspid valve stenosis and heart right ventricle hypoplasia, and develop kidney cysts and hydronephrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 G A 19: 4,917,605 (GRCm39) Q413* probably null Het
Ahnak2 C T 12: 112,740,358 (GRCm39) S1238N possibly damaging Het
Arsk T C 13: 76,210,484 (GRCm39) E521G probably damaging Het
Baiap2 A G 11: 119,887,913 (GRCm39) T356A probably benign Het
Baz1b G A 5: 135,246,819 (GRCm39) R756H probably damaging Het
Celsr1 G A 15: 85,916,615 (GRCm39) P453S probably damaging Het
Cep41 G A 6: 30,658,412 (GRCm39) P196S probably damaging Het
Cln5 T A 14: 103,309,214 (GRCm39) Y89* probably null Het
Cntnap3 A G 13: 64,905,024 (GRCm39) F919S probably damaging Het
Cobl A G 11: 12,203,592 (GRCm39) S1037P probably benign Het
Col17a1 A T 19: 47,659,813 (GRCm39) S380T probably benign Het
Cyrib G A 15: 63,828,490 (GRCm39) T11I probably benign Het
Dagla A T 19: 10,238,022 (GRCm39) S323T probably benign Het
Dicer1 G T 12: 104,662,803 (GRCm39) Q1593K probably benign Het
Dnah6 T C 6: 73,078,863 (GRCm39) I2367V probably benign Het
Emc1 T C 4: 139,086,588 (GRCm39) S184P possibly damaging Het
Eps8l1 G A 7: 4,474,414 (GRCm39) S295N probably benign Het
Erbb4 A T 1: 68,114,702 (GRCm39) M914K probably damaging Het
Eva1a A G 6: 82,068,784 (GRCm39) E37G probably damaging Het
Fyco1 G T 9: 123,657,715 (GRCm39) Y820* probably null Het
Gipr T C 7: 18,896,859 (GRCm39) Y137C probably damaging Het
Gm5414 A G 15: 101,536,181 (GRCm39) V148A probably damaging Het
Gpn1 T C 5: 31,654,685 (GRCm39) V79A probably damaging Het
Grk2 G A 19: 4,337,437 (GRCm39) R617C possibly damaging Het
Inpp4b A C 8: 82,772,896 (GRCm39) E730A probably damaging Het
Inpp5f C T 7: 128,286,858 (GRCm39) T579I probably benign Het
Kif15 A T 9: 122,840,608 (GRCm39) M1201L probably benign Het
Ltbp3 A G 19: 5,801,254 (GRCm39) N631S possibly damaging Het
Mdh1 G A 11: 21,508,538 (GRCm39) S268L probably damaging Het
Mgat4e T A 1: 134,469,103 (GRCm39) T314S possibly damaging Het
Nsd1 A G 13: 55,361,731 (GRCm39) Q233R probably benign Het
Or11g1 T C 14: 50,651,372 (GRCm39) F124L probably benign Het
Or5w17 T C 2: 87,584,127 (GRCm39) D70G possibly damaging Het
Paqr5 T A 9: 61,863,438 (GRCm39) I295L probably benign Het
Peg10 C T 6: 4,756,560 (GRCm39) H379Y unknown Het
Phtf2 A T 5: 21,018,242 (GRCm39) I33N probably damaging Het
Plcb2 T C 2: 118,553,977 (GRCm39) M115V probably benign Het
Ppp2r3d A G 9: 101,003,576 (GRCm39) Y431H possibly damaging Het
Prph2 GT G 17: 47,222,039 (GRCm39) probably null Het
Psmd1 C T 1: 86,055,960 (GRCm39) P774L probably damaging Het
Ranbp17 A T 11: 33,247,340 (GRCm39) probably null Het
Rptn A G 3: 93,304,977 (GRCm39) D770G possibly damaging Het
Serac1 A G 17: 6,101,087 (GRCm39) L439P probably damaging Het
Slitrk6 TTTTAGTCTGTTCTACCAACACCTT TTT 14: 110,987,257 (GRCm39) probably null Het
Sox6 T C 7: 115,196,744 (GRCm39) I295M probably benign Het
Spata31h1 T C 10: 82,119,586 (GRCm39) M4475V probably benign Het
Sulf1 T A 1: 12,929,637 (GRCm39) D301E probably benign Het
Tas2r117 G A 6: 132,780,014 (GRCm39) V51I possibly damaging Het
Tbx2 C T 11: 85,725,561 (GRCm39) R171C probably damaging Het
Tgfbr1 A G 4: 47,402,955 (GRCm39) I320V probably benign Het
Tjp3 C A 10: 81,115,091 (GRCm39) G396W probably damaging Het
Tmprss2 T C 16: 97,400,460 (GRCm39) N4D possibly damaging Het
Tnfaip3 T C 10: 18,883,071 (GRCm39) N165D probably benign Het
Tnfrsf21 A T 17: 43,348,802 (GRCm39) Y138F probably benign Het
Utp4 T C 8: 107,632,817 (GRCm39) S267P probably benign Het
Wnk1 A T 6: 119,940,328 (GRCm39) L803* probably null Het
Zbbx T A 3: 75,043,794 (GRCm39) D35V probably damaging Het
Zscan12 T G 13: 21,552,744 (GRCm39) N189K possibly damaging Het
Other mutations in Cntrl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Cntrl APN 2 35,027,826 (GRCm39) splice site probably benign
IGL00478:Cntrl APN 2 35,050,613 (GRCm39) missense probably damaging 0.98
IGL01460:Cntrl APN 2 35,055,856 (GRCm39) missense probably benign 0.04
IGL01556:Cntrl APN 2 35,063,071 (GRCm39) missense probably benign 0.19
IGL02155:Cntrl APN 2 35,050,250 (GRCm39) splice site probably benign
IGL02419:Cntrl APN 2 35,024,055 (GRCm39) missense probably damaging 0.97
R0179:Cntrl UTSW 2 35,057,871 (GRCm39) missense probably benign 0.00
R0276:Cntrl UTSW 2 35,041,744 (GRCm39) missense possibly damaging 0.62
R0471:Cntrl UTSW 2 35,017,392 (GRCm39) missense probably benign 0.41
R0755:Cntrl UTSW 2 35,035,151 (GRCm39) missense probably damaging 1.00
R0763:Cntrl UTSW 2 35,061,078 (GRCm39) missense probably benign
R0781:Cntrl UTSW 2 35,050,639 (GRCm39) missense possibly damaging 0.66
R0791:Cntrl UTSW 2 35,045,291 (GRCm39) missense possibly damaging 0.83
R0792:Cntrl UTSW 2 35,045,291 (GRCm39) missense possibly damaging 0.83
R0801:Cntrl UTSW 2 35,065,107 (GRCm39) splice site probably benign
R1067:Cntrl UTSW 2 35,039,034 (GRCm39) unclassified probably benign
R1110:Cntrl UTSW 2 35,050,639 (GRCm39) missense possibly damaging 0.66
R1117:Cntrl UTSW 2 35,017,985 (GRCm39) missense probably damaging 1.00
R1457:Cntrl UTSW 2 35,012,768 (GRCm39) missense probably benign 0.00
R1472:Cntrl UTSW 2 35,059,329 (GRCm39) critical splice donor site probably null
R1522:Cntrl UTSW 2 35,045,291 (GRCm39) missense possibly damaging 0.83
R1702:Cntrl UTSW 2 35,061,848 (GRCm39) critical splice acceptor site probably null
R1762:Cntrl UTSW 2 35,012,818 (GRCm39) frame shift probably null
R1785:Cntrl UTSW 2 35,012,818 (GRCm39) frame shift probably null
R1786:Cntrl UTSW 2 35,012,818 (GRCm39) frame shift probably null
R1812:Cntrl UTSW 2 35,039,481 (GRCm39) missense probably damaging 0.97
R1854:Cntrl UTSW 2 35,012,696 (GRCm39) missense probably damaging 1.00
R1863:Cntrl UTSW 2 35,008,131 (GRCm39) missense possibly damaging 0.93
R1868:Cntrl UTSW 2 35,019,827 (GRCm39) missense probably benign 0.03
R1914:Cntrl UTSW 2 35,052,873 (GRCm39) missense probably benign 0.00
R1915:Cntrl UTSW 2 35,052,873 (GRCm39) missense probably benign 0.00
R2049:Cntrl UTSW 2 35,012,818 (GRCm39) frame shift probably null
R2118:Cntrl UTSW 2 35,051,977 (GRCm39) missense probably benign 0.31
R2140:Cntrl UTSW 2 35,012,818 (GRCm39) frame shift probably null
R2142:Cntrl UTSW 2 35,012,818 (GRCm39) frame shift probably null
R2203:Cntrl UTSW 2 35,033,749 (GRCm39) missense possibly damaging 0.84
R2300:Cntrl UTSW 2 35,017,525 (GRCm39) missense probably benign 0.00
R2349:Cntrl UTSW 2 35,066,263 (GRCm39) missense probably benign 0.18
R2374:Cntrl UTSW 2 35,043,288 (GRCm39) missense possibly damaging 0.46
R3429:Cntrl UTSW 2 35,035,112 (GRCm39) missense probably damaging 1.00
R3890:Cntrl UTSW 2 35,060,492 (GRCm39) missense probably benign 0.02
R3911:Cntrl UTSW 2 35,010,061 (GRCm39) missense probably damaging 1.00
R3922:Cntrl UTSW 2 35,019,751 (GRCm39) missense probably damaging 0.98
R4081:Cntrl UTSW 2 35,065,137 (GRCm39) missense probably damaging 1.00
R4081:Cntrl UTSW 2 35,051,938 (GRCm39) splice site probably benign
R4516:Cntrl UTSW 2 35,017,993 (GRCm39) missense probably benign 0.00
R4518:Cntrl UTSW 2 35,038,986 (GRCm39) missense probably damaging 1.00
R4519:Cntrl UTSW 2 35,063,123 (GRCm39) missense probably damaging 1.00
R4646:Cntrl UTSW 2 35,039,473 (GRCm39) missense probably damaging 0.99
R4753:Cntrl UTSW 2 35,043,451 (GRCm39) missense possibly damaging 0.90
R4763:Cntrl UTSW 2 35,065,563 (GRCm39) missense probably damaging 1.00
R4916:Cntrl UTSW 2 35,055,694 (GRCm39) missense probably benign 0.42
R5168:Cntrl UTSW 2 35,047,667 (GRCm39) missense probably damaging 1.00
R5291:Cntrl UTSW 2 35,024,072 (GRCm39) missense probably damaging 1.00
R5356:Cntrl UTSW 2 35,038,911 (GRCm39) nonsense probably null
R5774:Cntrl UTSW 2 35,052,873 (GRCm39) missense probably benign 0.15
R5947:Cntrl UTSW 2 35,006,691 (GRCm39) missense probably damaging 1.00
R6144:Cntrl UTSW 2 35,055,745 (GRCm39) missense possibly damaging 0.93
R6147:Cntrl UTSW 2 35,055,745 (GRCm39) missense possibly damaging 0.93
R6214:Cntrl UTSW 2 35,019,646 (GRCm39) missense probably benign 0.10
R6267:Cntrl UTSW 2 35,019,805 (GRCm39) missense probably damaging 1.00
R6332:Cntrl UTSW 2 35,018,036 (GRCm39) missense possibly damaging 0.78
R6445:Cntrl UTSW 2 35,052,860 (GRCm39) missense probably benign 0.05
R6487:Cntrl UTSW 2 35,012,694 (GRCm39) missense possibly damaging 0.89
R6497:Cntrl UTSW 2 35,025,584 (GRCm39) missense possibly damaging 0.66
R6782:Cntrl UTSW 2 35,060,658 (GRCm39) missense possibly damaging 0.75
R6815:Cntrl UTSW 2 35,039,503 (GRCm39) missense probably damaging 1.00
R6853:Cntrl UTSW 2 35,019,833 (GRCm39) missense possibly damaging 0.87
R6858:Cntrl UTSW 2 35,052,107 (GRCm39) critical splice donor site probably null
R6965:Cntrl UTSW 2 35,052,845 (GRCm39) missense probably benign 0.20
R6970:Cntrl UTSW 2 35,008,149 (GRCm39) missense probably benign
R7085:Cntrl UTSW 2 35,055,804 (GRCm39) missense probably benign 0.00
R7150:Cntrl UTSW 2 35,055,457 (GRCm39) critical splice acceptor site probably null
R7213:Cntrl UTSW 2 35,025,692 (GRCm39) missense possibly damaging 0.95
R7221:Cntrl UTSW 2 35,041,869 (GRCm39) missense possibly damaging 0.46
R7389:Cntrl UTSW 2 35,017,529 (GRCm39) missense probably benign 0.01
R7414:Cntrl UTSW 2 35,055,479 (GRCm39) missense probably benign 0.02
R7427:Cntrl UTSW 2 35,060,546 (GRCm39) missense probably benign 0.00
R7428:Cntrl UTSW 2 35,060,546 (GRCm39) missense probably benign 0.00
R7453:Cntrl UTSW 2 35,045,421 (GRCm39) missense possibly damaging 0.89
R7747:Cntrl UTSW 2 35,006,810 (GRCm39) missense probably damaging 1.00
R7753:Cntrl UTSW 2 35,001,691 (GRCm39) missense probably damaging 1.00
R7811:Cntrl UTSW 2 35,052,873 (GRCm39) missense probably benign 0.00
R7882:Cntrl UTSW 2 35,060,592 (GRCm39) missense probably benign 0.41
R7919:Cntrl UTSW 2 35,017,413 (GRCm39) missense probably benign
R8314:Cntrl UTSW 2 35,065,155 (GRCm39) missense probably benign 0.00
R8332:Cntrl UTSW 2 35,016,037 (GRCm39) missense probably damaging 1.00
R8681:Cntrl UTSW 2 35,038,600 (GRCm39) missense probably damaging 1.00
R8698:Cntrl UTSW 2 35,023,974 (GRCm39) missense probably damaging 0.98
R8717:Cntrl UTSW 2 35,003,351 (GRCm39) missense probably benign 0.40
R8960:Cntrl UTSW 2 35,052,053 (GRCm39) missense possibly damaging 0.89
R9036:Cntrl UTSW 2 35,016,071 (GRCm39) missense probably damaging 1.00
R9617:Cntrl UTSW 2 35,035,077 (GRCm39) missense probably benign 0.00
R9621:Cntrl UTSW 2 35,050,278 (GRCm39) missense probably damaging 0.96
RF007:Cntrl UTSW 2 35,060,512 (GRCm39) missense probably benign
RF016:Cntrl UTSW 2 35,009,998 (GRCm39) missense probably benign
RF017:Cntrl UTSW 2 35,065,201 (GRCm39) missense probably damaging 0.96
X0024:Cntrl UTSW 2 35,037,308 (GRCm39) missense probably damaging 1.00
X0026:Cntrl UTSW 2 35,039,528 (GRCm39) missense probably damaging 1.00
X0027:Cntrl UTSW 2 35,055,694 (GRCm39) missense probably benign 0.08
X0027:Cntrl UTSW 2 35,047,780 (GRCm39) missense probably damaging 1.00
X0028:Cntrl UTSW 2 35,037,356 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- CATTCACTTTCTGCGTTCAGGAG -3'
(R):5'- TATTGCCAGCTCCACCTATACATG -3'

Sequencing Primer
(F):5'- TCTGCGTTCAGGAGAATGAAGTG -3'
(R):5'- CATGGCCAACATTTATTATTTTGCAG -3'
Posted On 2019-06-07