Incidental Mutation 'R7919:Cntrl'
ID 648216
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 # R7919 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 34999504-35068834 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35017413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 407 (D407N)
Ref Sequence ENSEMBL: ENSMUSP00000028235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028235] [ENSMUST00000028237] [ENSMUST00000113032] [ENSMUST00000113033] [ENSMUST00000113034] [ENSMUST00000113037] [ENSMUST00000150807] [ENSMUST00000156933]
AlphaFold A2AL36
Predicted Effect probably benign
Transcript: ENSMUST00000028235
AA Change: D407N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028235
Gene: ENSMUSG00000057110
AA Change: D407N

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 437 540 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000028237
AA Change: D407N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: D407N

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: D407N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: D407N

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 benign
Transcript: ENSMUST00000113033
SMART Domains Protein: ENSMUSP00000108656
Gene: ENSMUSG00000057110

DomainStartEndE-ValueType
coiled coil region 1 247 N/A INTRINSIC
coiled coil region 305 418 N/A INTRINSIC
low complexity region 422 442 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113034
SMART Domains Protein: ENSMUSP00000108657
Gene: ENSMUSG00000057110

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 benign
Transcript: ENSMUST00000113037
SMART Domains Protein: ENSMUSP00000108660
Gene: ENSMUSG00000057110

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
SMART Domains Protein: ENSMUSP00000119760
Gene: ENSMUSG00000057110
AA Change: D7N

DomainStartEndE-ValueType
coiled coil region 37 400 N/A INTRINSIC
coiled coil region 458 571 N/A INTRINSIC
low complexity region 576 596 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150807
SMART Domains Protein: ENSMUSP00000142683
Gene: ENSMUSG00000057110

DomainStartEndE-ValueType
coiled coil region 1 140 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156933
AA Change: D407N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: D407N

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T G 3: 137,885,311 (GRCm39) K95T probably damaging Het
9430097D07Rik T C 2: 32,464,461 (GRCm39) T113A unknown Het
Abcc2 T C 19: 43,805,248 (GRCm39) Y701H probably damaging Het
Adcy2 T A 13: 69,036,091 (GRCm39) H190L probably benign Het
Arhgef15 T C 11: 68,838,431 (GRCm39) T623A probably benign Het
Armc3 A G 2: 19,290,906 (GRCm39) T462A probably benign Het
Calhm2 C T 19: 47,121,447 (GRCm39) V241M possibly damaging Het
Cdc25c T C 18: 34,868,429 (GRCm39) I314V probably damaging Het
Dnah5 A G 15: 28,350,742 (GRCm39) E2588G probably damaging Het
Dnm1 T A 2: 32,229,990 (GRCm39) N178Y probably damaging Het
Eaf2 T A 16: 36,630,914 (GRCm39) E86D probably damaging Het
Elf1 C A 14: 79,798,339 (GRCm39) D75E probably benign Het
Fem1c T C 18: 46,657,370 (GRCm39) T115A probably damaging Het
Garnl3 A G 2: 32,936,611 (GRCm39) V186A probably benign Het
Gatb T A 3: 85,511,828 (GRCm39) S194R probably damaging Het
Gm10775 T A 13: 65,407,913 (GRCm39) N71K unknown Het
Gm19965 T A 1: 116,749,850 (GRCm39) C510* probably null Het
Hydin A G 8: 110,993,971 (GRCm39) T2A unknown Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Jag1 G A 2: 136,930,366 (GRCm39) T726M probably damaging Het
Kank1 A G 19: 25,408,439 (GRCm39) D1306G probably damaging Het
Krt26 T A 11: 99,224,420 (GRCm39) E366V probably damaging Het
Ksr2 A G 5: 117,899,418 (GRCm39) E872G possibly damaging Het
Med6 G A 12: 81,620,621 (GRCm39) R242* probably null Het
Meis2 A G 2: 115,697,788 (GRCm39) V370A probably benign Het
Mta2 C T 19: 8,926,498 (GRCm39) R480* probably null Het
Mup3 A T 4: 62,002,829 (GRCm39) N177K probably damaging Het
Myo15a T A 11: 60,417,356 (GRCm39) V3435E probably damaging Het
Ncapg A G 5: 45,853,390 (GRCm39) T880A probably benign Het
Obox1 A T 7: 15,290,256 (GRCm39) K200* probably null Het
Or8j3 A T 2: 86,028,609 (GRCm39) C162* probably null Het
Ovgp1 T A 3: 105,888,601 (GRCm39) V319D probably damaging Het
Plxdc2 A T 2: 16,553,036 (GRCm39) I145F probably damaging Het
Prr30 T C 14: 101,436,547 (GRCm39) N5S possibly damaging Het
Ptcd3 T C 6: 71,880,438 (GRCm39) Y95C probably damaging Het
Rsl1d1 A G 16: 11,020,297 (GRCm39) S44P probably benign Het
Sh3gl2 A G 4: 85,273,595 (GRCm39) E49G probably benign Het
Shroom1 A G 11: 53,354,220 (GRCm39) T47A probably benign Het
Slc20a1 G A 2: 129,049,757 (GRCm39) D340N probably benign Het
Stx1b A G 7: 127,406,507 (GRCm39) S281P probably benign Het
Tg A T 15: 66,555,923 (GRCm39) I872F possibly damaging Het
Ubqln3 C T 7: 103,790,399 (GRCm39) A564T probably benign Het
Vsnl1 T C 12: 11,382,087 (GRCm39) E98G possibly damaging Het
Vwf T C 6: 125,624,822 (GRCm39) L1857P Het
Wars1 C T 12: 108,847,030 (GRCm39) E125K probably benign Het
Wnt16 G A 6: 22,291,049 (GRCm39) S159N probably benign Het
Zcchc14 A G 8: 122,330,912 (GRCm39) F817S probably damaging Het
Zup1 A G 10: 33,825,108 (GRCm39) S125P 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
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
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'- AGAGGGAGTAATCCTTTTGAGAC -3'
(R):5'- TCATAACATCAGAAGGACTGTGC -3'

Sequencing Primer
(F):5'- TGTAAGTATTCTGTGATAAGTTTGCC -3'
(R):5'- ATCAGAAGGACTGTGCCTGATCTC -3'
Posted On 2020-09-15