Incidental Mutation 'R4763:Cntrl'
ID 357005
Institutional Source Beutler Lab
Gene Symbol Cntrl
Ensembl Gene ENSMUSG00000057110
Gene Name centriolin
Synonyms IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110
MMRRC Submission 042404-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # R4763 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 34999504-35068834 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 35065563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 2235 (R2235L)
Ref Sequence ENSEMBL: ENSMUSP00000118731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028237] [ENSMUST00000028238] [ENSMUST00000113025] [ENSMUST00000113032] [ENSMUST00000113037] [ENSMUST00000156933]
AlphaFold A2AL36
Predicted Effect probably damaging
Transcript: ENSMUST00000028237
AA Change: R2235L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: R2235L

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: ENSMUST00000028238
SMART Domains Protein: ENSMUSP00000028238
Gene: ENSMUSG00000026878

DomainStartEndE-ValueType
RAB 12 175 1.4e-109 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000113025
SMART Domains Protein: ENSMUSP00000108648
Gene: ENSMUSG00000026878

DomainStartEndE-ValueType
RAB 12 151 5.28e-78 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113032
AA Change: R2234L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: R2234L

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 probably damaging
Transcript: ENSMUST00000113037
AA Change: R1681L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108660
Gene: ENSMUSG00000057110
AA Change: R1681L

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 noncoding transcript
Transcript: ENSMUST00000137129
AA Change: R574L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143807
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154214
AA Change: R570L
Predicted Effect probably damaging
Transcript: ENSMUST00000156933
AA Change: R2235L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: R2235L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138982
AA Change: V47L
Meta Mutation Damage Score 0.2341 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 97% (73/75)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610303G11Rik A G 9: 98,069,176 (GRCm39) noncoding transcript Het
Abhd2 A G 7: 79,009,879 (GRCm39) E418G probably benign Het
Acox2 G T 14: 8,241,334 (GRCm38) H593N possibly damaging Het
Adam17 A G 12: 21,384,016 (GRCm39) Y495H probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Arhgap44 A G 11: 64,929,991 (GRCm39) I240T probably damaging Het
Atp2c1 T C 9: 105,295,766 (GRCm39) T653A probably damaging Het
Atxn7l1 G A 12: 33,408,877 (GRCm39) probably benign Het
Cacng8 T C 7: 3,463,508 (GRCm39) V220A probably damaging Het
Card14 A T 11: 119,234,001 (GRCm39) S864C probably damaging Het
Cfap58 C T 19: 47,971,945 (GRCm39) A625V probably damaging Het
Cfap61 T C 2: 145,859,287 (GRCm39) V425A probably benign Het
Cfap73 A G 5: 120,768,294 (GRCm39) F155L probably damaging Het
Cxxc1 A G 18: 74,352,484 (GRCm39) K355E probably damaging Het
Disc1 G A 8: 125,851,277 (GRCm39) G387D probably damaging Het
Dpf2 T C 19: 5,952,480 (GRCm39) Y286C probably damaging Het
E2f7 A T 10: 110,616,710 (GRCm39) K650M probably damaging Het
Fbln2 C T 6: 91,246,982 (GRCm39) S1027F probably damaging Het
Foxj2 G T 6: 122,810,230 (GRCm39) Q196H probably benign Het
Gm6811 A G 17: 21,314,109 (GRCm39) noncoding transcript Het
Gtf2i T C 5: 134,284,818 (GRCm39) K409E probably damaging Het
Hamp T A 7: 30,641,989 (GRCm39) R55S probably damaging Het
Heatr1 C T 13: 12,445,811 (GRCm39) T1596I possibly damaging Het
Hells T C 19: 38,945,643 (GRCm39) V601A probably damaging Het
Ighv5-8 A G 12: 113,617,161 (GRCm39) S34P probably damaging Het
Lig4 T C 8: 10,022,955 (GRCm39) D275G probably damaging Het
Meak7 A G 8: 120,495,122 (GRCm39) V212A probably benign Het
Med6 T C 12: 81,629,435 (GRCm39) D59G probably damaging Het
Men1 T C 19: 6,385,102 (GRCm39) probably null Het
Mlec G A 5: 115,295,972 (GRCm39) A41V unknown Het
Ncoa1 G A 12: 4,325,297 (GRCm39) T927I probably damaging Het
Neb T A 2: 52,216,732 (GRCm39) K148* probably null Het
Neb T A 2: 52,127,052 (GRCm39) K378* probably null Het
Or4b13 T A 2: 90,082,807 (GRCm39) Y175F probably damaging Het
Or4k41 T A 2: 111,280,023 (GRCm39) C179* probably null Het
Or5p73 G A 7: 108,065,393 (GRCm39) M287I probably benign Het
Or8g26 A G 9: 39,096,256 (GRCm39) T261A probably benign Het
Parp10 C T 15: 76,117,627 (GRCm39) V920M probably damaging Het
Parp6 C A 9: 59,538,648 (GRCm39) P241H probably damaging Het
Pcyox1l A G 18: 61,830,850 (GRCm39) Y341H probably benign Het
Pfas A T 11: 68,881,020 (GRCm39) D1080E possibly damaging Het
Pi4kb G T 3: 94,911,720 (GRCm39) probably benign Het
Piwil2 C T 14: 70,614,227 (GRCm39) V846M probably damaging Het
Pkd1l2 A G 8: 117,746,168 (GRCm39) F1941L probably damaging Het
Pot1b G A 17: 56,002,160 (GRCm39) T138M possibly damaging Het
Ppp4r1 T C 17: 66,142,105 (GRCm39) I720T possibly damaging Het
Prr12 A G 7: 44,697,119 (GRCm39) L932S unknown Het
Rnaseh2a T A 8: 85,692,021 (GRCm39) E84V probably benign Het
Rpl18a G A 8: 71,348,330 (GRCm39) R118C probably benign Het
Rprm C A 2: 53,975,228 (GRCm39) C30F possibly damaging Het
Sbf2 G T 7: 110,020,124 (GRCm39) L579I probably damaging Het
Sfn C A 4: 133,328,656 (GRCm39) R142L probably benign Het
St8sia6 T C 2: 13,677,341 (GRCm39) K159E probably damaging Het
Sugct A T 13: 17,837,372 (GRCm39) F86L probably damaging Het
Tmcc3 T C 10: 94,415,173 (GRCm39) S292P probably damaging Het
Tmem33 A T 5: 67,443,479 (GRCm39) I219F probably benign Het
Trav8-1 C A 14: 53,707,492 (GRCm39) T44K possibly damaging Het
U2surp A G 9: 95,393,844 (GRCm39) probably benign Het
Use1 T C 8: 71,819,952 (GRCm39) L25P probably damaging Het
Vmn1r221 G T 13: 23,401,958 (GRCm39) noncoding transcript Het
Vmn1r50 C T 6: 90,085,062 (GRCm39) T269I probably benign Het
Washc3 A G 10: 88,055,185 (GRCm39) D125G probably damaging Het
Zfp142 G A 1: 74,615,671 (GRCm39) H278Y probably damaging Het
Zfp418 A G 7: 7,184,444 (GRCm39) N136D 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
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
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
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'- GTAACGTTTGTCCAGCTGTCC -3'
(R):5'- TTGAATGCTGATAGCCATTTGC -3'

Sequencing Primer
(F):5'- CCGGGCTTCAGAGTGAGAATCTG -3'
(R):5'- AGCTTCTCTGAACGTCTTAAGTG -3'
Posted On 2015-11-11