Incidental Mutation 'R0792:Cntrl'
ID 82442
Institutional Source Beutler Lab
Gene Symbol Cntrl
Ensembl Gene ENSMUSG00000057110
Gene Name centriolin
Synonyms IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110
MMRRC Submission 038972-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # R0792 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 34999504-35068834 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35045291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 781 (I781K)
Ref Sequence ENSEMBL: ENSMUSP00000108657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028237] [ENSMUST00000113032] [ENSMUST00000113034] [ENSMUST00000113037] [ENSMUST00000156933]
AlphaFold A2AL36
Predicted Effect probably benign
Transcript: ENSMUST00000028237
AA Change: I1334K

PolyPhen 2 Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: I1334K

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 benign
Transcript: ENSMUST00000113032
AA Change: I1333K

PolyPhen 2 Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: I1333K

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: I781K

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108657
Gene: ENSMUSG00000057110
AA Change: I781K

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 possibly damaging
Transcript: ENSMUST00000113037
AA Change: I780K

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108660
Gene: ENSMUSG00000057110
AA Change: I780K

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: ENSMUST00000156933
AA Change: I1334K

PolyPhen 2 Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: I1334K

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
Meta Mutation Damage Score 0.1672 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.6%
  • 20x: 95.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 T C 19: 55,268,924 (GRCm39) V195A probably benign Het
Adgrb1 A G 15: 74,452,466 (GRCm39) M211V probably damaging Het
Ahnak G T 19: 8,994,098 (GRCm39) M5127I probably benign Het
Akr1c13 T C 13: 4,244,111 (GRCm39) Y55H probably damaging Het
Ap3d1 A T 10: 80,544,313 (GRCm39) H1161Q probably benign Het
Armh3 A T 19: 45,922,307 (GRCm39) probably null Het
Atp2b2 C T 6: 113,750,349 (GRCm39) R625H probably damaging Het
Bdnf G A 2: 109,554,463 (GRCm39) C239Y probably damaging Het
Bpifa5 G T 2: 154,007,539 (GRCm39) probably null Het
C9 T A 15: 6,516,243 (GRCm39) F349I probably damaging Het
Ccdc180 T C 4: 45,927,975 (GRCm39) V1170A possibly damaging Het
Celsr1 A G 15: 85,815,477 (GRCm39) V1846A probably benign Het
Cep68 A T 11: 20,190,652 (GRCm39) L120H possibly damaging Het
Cpne1 G T 2: 155,919,339 (GRCm39) Q343K probably benign Het
Dlc1 A T 8: 37,405,702 (GRCm39) I29K probably benign Het
Dnah9 T C 11: 65,786,827 (GRCm39) D3602G possibly damaging Het
Dock1 A G 7: 134,475,879 (GRCm39) S885G probably benign Het
Evpl T A 11: 116,118,549 (GRCm39) Q686L probably damaging Het
Fmo6 C T 1: 162,748,132 (GRCm39) A311T probably damaging Het
Gli1 A T 10: 127,168,446 (GRCm39) M469K probably damaging Het
Grin2c G A 11: 115,141,472 (GRCm39) P882L probably damaging Het
H2-Ob C T 17: 34,461,588 (GRCm39) T109I probably damaging Het
Jpt2 C A 17: 25,167,647 (GRCm39) A101S probably benign Het
Krt1c A G 15: 101,724,932 (GRCm39) V226A probably damaging Het
Lamc1 T G 1: 153,110,341 (GRCm39) Q1111H probably damaging Het
Lamc1 T C 1: 153,110,358 (GRCm39) S1106G probably benign Het
Lamc1 C A 1: 153,110,326 (GRCm39) Q1116H possibly damaging Het
Lrp1 G T 10: 127,403,233 (GRCm39) D2113E probably damaging Het
Lrp1 A T 10: 127,411,155 (GRCm39) D1399E probably benign Het
Ltbp4 G T 7: 27,024,485 (GRCm39) P715Q probably damaging Het
Mtor T C 4: 148,547,367 (GRCm39) V450A probably benign Het
Muc6 G A 7: 141,223,981 (GRCm39) probably benign Het
Myom1 A T 17: 71,428,131 (GRCm39) I1450F probably damaging Het
Naip6 A G 13: 100,420,274 (GRCm39) I1332T possibly damaging Het
Ncstn A G 1: 171,899,072 (GRCm39) V353A possibly damaging Het
Nt5c3 T C 6: 56,863,734 (GRCm39) T149A probably benign Het
Or5ac21 A T 16: 59,124,352 (GRCm39) I280F probably damaging Het
Or5p81 A G 7: 108,267,364 (GRCm39) H247R probably damaging Het
Paip1 T C 13: 119,566,854 (GRCm39) S54P possibly damaging Het
Prdm14 G T 1: 13,195,968 (GRCm39) A31E probably benign Het
Prr14l A G 5: 32,985,767 (GRCm39) S1243P probably damaging Het
Prss1 T C 6: 41,435,878 (GRCm39) M1T probably null Het
Raver2 T A 4: 100,960,147 (GRCm39) V209D probably damaging Het
Scube1 T A 15: 83,512,277 (GRCm39) probably null Het
Serpina3c T A 12: 104,117,805 (GRCm39) I178F probably damaging Het
Slc16a13 A T 11: 70,111,457 (GRCm39) V16E probably damaging Het
Slc30a6 T C 17: 74,722,640 (GRCm39) S236P possibly damaging Het
Sobp A C 10: 42,898,689 (GRCm39) S299A probably damaging Het
Sorcs3 C A 19: 48,694,448 (GRCm39) T574K possibly damaging Het
Trak2 A T 1: 58,942,820 (GRCm39) M862K probably benign Het
Ubox5 A T 2: 130,442,630 (GRCm39) V19E probably damaging Het
Vmn1r173 A G 7: 23,402,160 (GRCm39) T132A probably benign Het
Zfp267 A G 3: 36,218,711 (GRCm39) M244V probably benign Het
Zfp820 T C 17: 22,038,509 (GRCm39) D273G probably benign 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
PIT4480001:Cntrl UTSW 2 35,045,440 (GRCm39) missense probably damaging 0.96
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
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'- TGTCTCTCCAGCAGTGCATGACTC -3'
(R):5'- AGGCAATGCTGACTGAGAATGTCTG -3'

Sequencing Primer
(F):5'- TAAACAGTTCTCCCGGCG -3'
(R):5'- GCTGACTGAGAATGTCTGTCAAC -3'
Posted On 2013-11-08