Incidental Mutation 'R7806:Cep350'
ID 600751
Institutional Source Beutler Lab
Gene Symbol Cep350
Ensembl Gene ENSMUSG00000033671
Gene Name centrosomal protein 350
Synonyms 4933409L06Rik, 6430546F08Rik
MMRRC Submission 045861-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R7806 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 155720710-155849001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155737809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 2678 (Q2678R)
Ref Sequence ENSEMBL: ENSMUSP00000120085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000138762]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000129865
Predicted Effect probably benign
Transcript: ENSMUST00000138762
AA Change: Q2678R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000120085
Gene: ENSMUSG00000033671
AA Change: Q2678R

DomainStartEndE-ValueType
low complexity region 251 265 N/A INTRINSIC
low complexity region 376 394 N/A INTRINSIC
low complexity region 481 491 N/A INTRINSIC
coiled coil region 596 641 N/A INTRINSIC
low complexity region 659 669 N/A INTRINSIC
low complexity region 701 719 N/A INTRINSIC
low complexity region 754 763 N/A INTRINSIC
low complexity region 979 994 N/A INTRINSIC
low complexity region 1153 1175 N/A INTRINSIC
low complexity region 1250 1267 N/A INTRINSIC
coiled coil region 1363 1402 N/A INTRINSIC
low complexity region 1517 1531 N/A INTRINSIC
low complexity region 1536 1546 N/A INTRINSIC
low complexity region 1694 1714 N/A INTRINSIC
coiled coil region 1732 1794 N/A INTRINSIC
low complexity region 1800 1811 N/A INTRINSIC
low complexity region 1819 1835 N/A INTRINSIC
coiled coil region 1853 1893 N/A INTRINSIC
low complexity region 1980 1994 N/A INTRINSIC
coiled coil region 2042 2092 N/A INTRINSIC
low complexity region 2383 2394 N/A INTRINSIC
low complexity region 2409 2421 N/A INTRINSIC
low complexity region 2470 2482 N/A INTRINSIC
CAP_GLY 2486 2551 5.91e-31 SMART
coiled coil region 2700 2731 N/A INTRINSIC
Meta Mutation Damage Score 0.0661 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (83/85)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI

 All alleles(5) : Gene trapped(5)

Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik C A 8: 125,569,143 (GRCm39) V144F probably benign Het
Aar2 T A 2: 156,393,031 (GRCm39) I140N possibly damaging Het
Abca15 A G 7: 119,932,059 (GRCm39) N104S probably damaging Het
Adam22 A T 5: 8,142,825 (GRCm39) N803K probably damaging Het
Adk A G 14: 21,376,679 (GRCm39) N26S Het
Ak9 A C 10: 41,309,080 (GRCm39) probably null Het
Alpk2 T C 18: 65,482,487 (GRCm39) D40G probably benign Het
Ankrd65 A T 4: 155,877,437 (GRCm39) H316L probably benign Het
Cabp7 C T 11: 4,688,889 (GRCm39) A194T probably damaging Het
Ccdc180 A C 4: 45,912,801 (GRCm39) K593N possibly damaging Het
Cd80 A G 16: 38,294,315 (GRCm39) D66G probably benign Het
Cdh5 T C 8: 104,867,448 (GRCm39) V575A probably damaging Het
Cideb G A 14: 55,992,625 (GRCm39) T97M probably damaging Het
Clca4b T C 3: 144,638,157 (GRCm39) D35G probably benign Het
Clpx T C 9: 65,207,213 (GRCm39) V37A probably benign Het
Cmya5 A C 13: 93,230,770 (GRCm39) S1439R probably benign Het
Cndp2 T A 18: 84,688,945 (GRCm39) H279L probably benign Het
Cngb1 A T 8: 96,025,432 (GRCm39) probably null Het
Cpq T A 15: 33,497,443 (GRCm39) N394K possibly damaging Het
Dedd T C 1: 171,166,062 (GRCm39) L60P probably benign Het
Dennd3 C A 15: 73,442,624 (GRCm39) L1216M possibly damaging Het
Dntt A T 19: 41,018,071 (GRCm39) N65I probably benign Het
Fap T A 2: 62,333,758 (GRCm39) E662V probably damaging Het
Fasn A T 11: 120,700,821 (GRCm39) M2066K probably benign Het
Fggy G A 4: 95,489,203 (GRCm39) G69E probably benign Het
Foxc1 G T 13: 31,992,739 (GRCm39) G517C unknown Het
Gas2l3 A G 10: 89,249,232 (GRCm39) Y629H probably benign Het
Gcnt2 A G 13: 41,071,717 (GRCm39) N120S probably damaging Het
Gfpt2 A G 11: 49,714,142 (GRCm39) T300A probably benign Het
Glud1 A G 14: 34,065,606 (GRCm39) R535G probably damaging Het
Gm3248 T A 14: 5,943,883 (GRCm38) I114L probably benign Het
Gm3278 G A 14: 16,082,211 (GRCm39) probably null Het
Gm3402 A C 5: 146,451,090 (GRCm39) K44Q probably damaging Het
Gm3696 C G 14: 18,433,094 (GRCm39) R188S probably benign Het
Gm3696 C A 14: 18,433,095 (GRCm39) R188M probably benign Het
Gmppa T C 1: 75,415,581 (GRCm39) L113P probably damaging Het
Gmps A G 3: 63,890,091 (GRCm39) probably null Het
Gnal T A 18: 67,346,145 (GRCm39) M275K probably damaging Het
Gopc G C 10: 52,229,525 (GRCm39) N231K probably damaging Het
Gpr152 T C 19: 4,193,487 (GRCm39) S343P probably benign Het
Gpr17 T C 18: 32,080,593 (GRCm39) I157V probably benign Het
Grm7 T A 6: 111,223,314 (GRCm39) Y451* probably null Het
Ikbke T C 1: 131,199,635 (GRCm39) E286G probably damaging Het
Inpp5b A T 4: 124,678,881 (GRCm39) probably null Het
Iqgap2 G A 13: 95,818,765 (GRCm39) L664F probably benign Het
Kif17 A G 4: 138,015,507 (GRCm39) E552G possibly damaging Het
Lamtor1 T A 7: 101,555,220 (GRCm39) Y5* probably null Het
Lpin2 A G 17: 71,552,166 (GRCm39) I829V probably damaging Het
Lrg1 T G 17: 56,426,967 (GRCm39) D335A probably benign Het
Lrriq3 T C 3: 154,804,444 (GRCm39) Y35H probably damaging Het
Mkx T A 18: 7,000,607 (GRCm39) M112L probably benign Het
Mlxipl A C 5: 135,163,397 (GRCm39) D760A possibly damaging Het
Muc6 T C 7: 141,217,387 (GRCm39) T2429A possibly damaging Het
N4bp2l2 A G 5: 150,566,715 (GRCm39) C134R unknown Het
Nanos1 A G 19: 60,744,972 (GRCm39) E90G probably benign Het
Nckap1 T C 2: 80,371,843 (GRCm39) D329G probably damaging Het
Or13a18 T C 7: 140,190,685 (GRCm39) I194T probably benign Het
Or14j9 A C 17: 37,875,112 (GRCm39) L30R probably damaging Het
Or8b12c T C 9: 37,715,872 (GRCm39) S222P probably damaging Het
Or8g51 G T 9: 38,609,567 (GRCm39) L32I probably benign Het
Osbpl7 A G 11: 96,946,954 (GRCm39) H419R probably benign Het
Otog C T 7: 45,935,200 (GRCm39) T1395I probably benign Het
Pigq T A 17: 26,150,700 (GRCm39) I451F probably benign Het
Ptgfrn A G 3: 100,984,448 (GRCm39) V248A possibly damaging Het
Rdh19 G T 10: 127,692,740 (GRCm39) V136L probably damaging Het
Rfesd T C 13: 76,156,308 (GRCm39) T33A possibly damaging Het
Rnf213 G A 11: 119,302,371 (GRCm39) V432M Het
Rpl22l1 T A 3: 28,860,962 (GRCm39) L60Q probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,127 (GRCm39) probably benign Het
Samd3 A G 10: 26,120,425 (GRCm39) T140A probably benign Het
Sbf1 A G 15: 89,189,623 (GRCm39) V419A possibly damaging Het
Serpinb6a T C 13: 34,119,548 (GRCm39) probably null Het
Slc22a4 A G 11: 53,881,476 (GRCm39) L414P probably damaging Het
Smarcd3 A T 5: 24,798,260 (GRCm39) V420D probably benign Het
Tcaim A G 9: 122,663,995 (GRCm39) D495G probably damaging Het
Tep1 A G 14: 51,074,266 (GRCm39) V1873A possibly damaging Het
Tmcc2 T C 1: 132,288,527 (GRCm39) N387D probably damaging Het
Tmed8 A T 12: 87,219,204 (GRCm39) I322N probably damaging Het
Tmod4 A C 3: 95,034,915 (GRCm39) D168A probably benign Het
Trgc2 A T 13: 19,491,390 (GRCm39) probably benign Het
Trp53bp1 C T 2: 121,035,542 (GRCm39) E1520K probably damaging Het
Trpv5 T A 6: 41,651,867 (GRCm39) I183F probably damaging Het
Vmn2r70 A T 7: 85,208,401 (GRCm39) I692K probably benign Het
Vmn2r87 T A 10: 130,315,679 (GRCm39) Y129F probably benign Het
Vps8 A G 16: 21,278,501 (GRCm39) D253G probably damaging Het
Ythdc2 T C 18: 44,977,353 (GRCm39) I383T possibly damaging Het
Ythdc2 T C 18: 44,983,491 (GRCm39) S553P probably benign Het
Zfyve26 A G 12: 79,327,129 (GRCm39) probably null Het
Zic1 G A 9: 91,247,024 (GRCm39) T16I probably damaging Het
Other mutations in Cep350
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00764:Cep350 APN 1 155,816,492 (GRCm39) missense possibly damaging 0.68
IGL00821:Cep350 APN 1 155,737,950 (GRCm39) missense probably benign
IGL00837:Cep350 APN 1 155,829,137 (GRCm39) missense probably damaging 1.00
IGL00977:Cep350 APN 1 155,808,611 (GRCm39) missense probably null 0.99
IGL01544:Cep350 APN 1 155,828,933 (GRCm39) missense probably damaging 1.00
IGL01616:Cep350 APN 1 155,828,993 (GRCm39) missense probably benign 0.00
IGL01695:Cep350 APN 1 155,819,904 (GRCm39) missense probably damaging 1.00
IGL01902:Cep350 APN 1 155,737,731 (GRCm39) missense probably damaging 1.00
IGL01977:Cep350 APN 1 155,787,714 (GRCm39) missense probably benign 0.01
IGL02388:Cep350 APN 1 155,829,499 (GRCm39) missense probably benign 0.28
IGL02475:Cep350 APN 1 155,738,341 (GRCm39) missense probably damaging 1.00
IGL02528:Cep350 APN 1 155,770,361 (GRCm39) missense probably damaging 1.00
IGL02598:Cep350 APN 1 155,738,713 (GRCm39) missense probably benign 0.00
IGL02676:Cep350 APN 1 155,737,977 (GRCm39) missense possibly damaging 0.82
IGL02728:Cep350 APN 1 155,828,968 (GRCm39) missense probably benign 0.02
IGL02744:Cep350 APN 1 155,807,279 (GRCm39) missense probably damaging 0.98
IGL02817:Cep350 APN 1 155,804,588 (GRCm39) missense probably damaging 1.00
IGL02892:Cep350 APN 1 155,744,552 (GRCm39) missense possibly damaging 0.51
IGL03156:Cep350 APN 1 155,733,788 (GRCm39) missense probably damaging 1.00
IGL03166:Cep350 APN 1 155,739,346 (GRCm39) missense possibly damaging 0.78
IGL03216:Cep350 APN 1 155,736,373 (GRCm39) missense probably benign 0.06
IGL03268:Cep350 APN 1 155,829,295 (GRCm39) missense probably benign 0.16
IGL03358:Cep350 APN 1 155,804,285 (GRCm39) missense probably benign
primed UTSW 1 155,829,334 (GRCm39) missense probably damaging 0.98
stoked UTSW 1 155,791,321 (GRCm39) missense probably benign 0.03
NA:Cep350 UTSW 1 155,834,394 (GRCm39) missense probably damaging 1.00
R0060:Cep350 UTSW 1 155,804,372 (GRCm39) missense probably damaging 1.00
R0060:Cep350 UTSW 1 155,804,372 (GRCm39) missense probably damaging 1.00
R0066:Cep350 UTSW 1 155,786,964 (GRCm39) missense probably damaging 0.99
R0066:Cep350 UTSW 1 155,786,964 (GRCm39) missense probably damaging 0.99
R0172:Cep350 UTSW 1 155,829,193 (GRCm39) missense probably benign 0.00
R0365:Cep350 UTSW 1 155,782,317 (GRCm39) missense probably benign 0.00
R0472:Cep350 UTSW 1 155,790,469 (GRCm39) missense probably damaging 0.99
R0502:Cep350 UTSW 1 155,776,629 (GRCm39) splice site probably null
R0538:Cep350 UTSW 1 155,724,366 (GRCm39) missense possibly damaging 0.80
R0547:Cep350 UTSW 1 155,777,181 (GRCm39) splice site probably null
R0565:Cep350 UTSW 1 155,836,941 (GRCm39) splice site probably benign
R0607:Cep350 UTSW 1 155,747,794 (GRCm39) missense probably damaging 1.00
R0645:Cep350 UTSW 1 155,816,458 (GRCm39) splice site probably null
R0675:Cep350 UTSW 1 155,835,499 (GRCm39) missense possibly damaging 0.63
R0828:Cep350 UTSW 1 155,828,992 (GRCm39) missense probably benign 0.00
R0863:Cep350 UTSW 1 155,737,981 (GRCm39) missense probably benign 0.00
R0969:Cep350 UTSW 1 155,816,572 (GRCm39) missense possibly damaging 0.81
R1102:Cep350 UTSW 1 155,807,264 (GRCm39) missense probably damaging 1.00
R1186:Cep350 UTSW 1 155,751,122 (GRCm39) missense probably damaging 1.00
R1552:Cep350 UTSW 1 155,786,484 (GRCm39) missense possibly damaging 0.92
R1560:Cep350 UTSW 1 155,804,825 (GRCm39) missense possibly damaging 0.48
R1698:Cep350 UTSW 1 155,829,104 (GRCm39) missense possibly damaging 0.62
R1729:Cep350 UTSW 1 155,787,727 (GRCm39) missense probably benign 0.17
R1735:Cep350 UTSW 1 155,828,960 (GRCm39) missense probably damaging 0.99
R1740:Cep350 UTSW 1 155,804,579 (GRCm39) missense probably damaging 1.00
R1783:Cep350 UTSW 1 155,804,611 (GRCm39) missense probably damaging 1.00
R1844:Cep350 UTSW 1 155,724,374 (GRCm39) missense probably damaging 0.99
R1848:Cep350 UTSW 1 155,829,397 (GRCm39) missense probably benign 0.28
R1988:Cep350 UTSW 1 155,808,850 (GRCm39) missense possibly damaging 0.82
R2008:Cep350 UTSW 1 155,790,467 (GRCm39) missense probably benign 0.16
R2241:Cep350 UTSW 1 155,834,302 (GRCm39) splice site probably null
R2245:Cep350 UTSW 1 155,754,766 (GRCm39) missense probably benign 0.10
R2402:Cep350 UTSW 1 155,738,882 (GRCm39) missense probably benign
R2566:Cep350 UTSW 1 155,835,464 (GRCm39) critical splice donor site probably null
R3160:Cep350 UTSW 1 155,738,910 (GRCm39) missense probably benign 0.00
R3162:Cep350 UTSW 1 155,738,910 (GRCm39) missense probably benign 0.00
R3769:Cep350 UTSW 1 155,828,950 (GRCm39) missense probably damaging 1.00
R4035:Cep350 UTSW 1 155,835,541 (GRCm39) missense probably benign 0.06
R4158:Cep350 UTSW 1 155,808,621 (GRCm39) missense probably damaging 1.00
R4160:Cep350 UTSW 1 155,808,621 (GRCm39) missense probably damaging 1.00
R4213:Cep350 UTSW 1 155,811,707 (GRCm39) missense probably damaging 1.00
R4483:Cep350 UTSW 1 155,802,214 (GRCm39) missense probably benign 0.01
R4648:Cep350 UTSW 1 155,778,344 (GRCm39) missense possibly damaging 0.85
R4694:Cep350 UTSW 1 155,804,332 (GRCm39) missense probably damaging 1.00
R4836:Cep350 UTSW 1 155,804,579 (GRCm39) missense probably damaging 1.00
R4839:Cep350 UTSW 1 155,804,240 (GRCm39) missense probably benign 0.00
R4969:Cep350 UTSW 1 155,736,025 (GRCm39) missense probably damaging 0.99
R5014:Cep350 UTSW 1 155,803,952 (GRCm39) missense probably benign 0.00
R5027:Cep350 UTSW 1 155,809,100 (GRCm39) missense probably benign 0.01
R5144:Cep350 UTSW 1 155,786,896 (GRCm39) missense probably damaging 0.99
R5153:Cep350 UTSW 1 155,811,692 (GRCm39) missense probably damaging 1.00
R5165:Cep350 UTSW 1 155,804,114 (GRCm39) missense probably damaging 1.00
R5182:Cep350 UTSW 1 155,733,854 (GRCm39) missense probably damaging 1.00
R5445:Cep350 UTSW 1 155,770,469 (GRCm39) missense probably benign 0.01
R5738:Cep350 UTSW 1 155,741,824 (GRCm39) missense probably damaging 1.00
R5809:Cep350 UTSW 1 155,809,087 (GRCm39) missense probably damaging 0.98
R5855:Cep350 UTSW 1 155,829,508 (GRCm39) missense probably benign 0.00
R6103:Cep350 UTSW 1 155,800,322 (GRCm39) missense probably benign 0.05
R6139:Cep350 UTSW 1 155,829,025 (GRCm39) missense probably benign 0.03
R6285:Cep350 UTSW 1 155,829,120 (GRCm39) missense possibly damaging 0.48
R6430:Cep350 UTSW 1 155,770,419 (GRCm39) missense probably damaging 1.00
R6446:Cep350 UTSW 1 155,737,900 (GRCm39) missense probably benign
R6520:Cep350 UTSW 1 155,809,082 (GRCm39) missense probably benign 0.02
R6712:Cep350 UTSW 1 155,733,852 (GRCm39) missense possibly damaging 0.93
R6940:Cep350 UTSW 1 155,804,297 (GRCm39) missense probably benign 0.01
R7020:Cep350 UTSW 1 155,804,077 (GRCm39) missense probably damaging 1.00
R7056:Cep350 UTSW 1 155,724,373 (GRCm39) missense probably damaging 1.00
R7141:Cep350 UTSW 1 155,790,494 (GRCm39) missense probably damaging 1.00
R7215:Cep350 UTSW 1 155,770,453 (GRCm39) missense possibly damaging 0.89
R7247:Cep350 UTSW 1 155,786,499 (GRCm39) missense probably damaging 1.00
R7272:Cep350 UTSW 1 155,829,334 (GRCm39) missense probably damaging 0.98
R7336:Cep350 UTSW 1 155,738,022 (GRCm39) missense probably benign 0.17
R7361:Cep350 UTSW 1 155,777,237 (GRCm39) missense probably damaging 1.00
R7390:Cep350 UTSW 1 155,741,833 (GRCm39) missense possibly damaging 0.94
R7402:Cep350 UTSW 1 155,803,961 (GRCm39) missense probably benign 0.00
R7428:Cep350 UTSW 1 155,770,365 (GRCm39) missense probably benign 0.00
R7440:Cep350 UTSW 1 155,816,518 (GRCm39) missense probably damaging 0.98
R7520:Cep350 UTSW 1 155,791,375 (GRCm39) missense probably benign 0.05
R7529:Cep350 UTSW 1 155,737,669 (GRCm39) missense probably benign 0.08
R7635:Cep350 UTSW 1 155,754,767 (GRCm39) nonsense probably null
R8100:Cep350 UTSW 1 155,829,148 (GRCm39) missense probably damaging 0.97
R8192:Cep350 UTSW 1 155,816,529 (GRCm39) missense possibly damaging 0.94
R8193:Cep350 UTSW 1 155,737,825 (GRCm39) missense probably benign 0.01
R8351:Cep350 UTSW 1 155,747,780 (GRCm39) missense probably damaging 0.99
R8406:Cep350 UTSW 1 155,798,164 (GRCm39) missense probably benign 0.00
R8451:Cep350 UTSW 1 155,747,780 (GRCm39) missense probably damaging 0.99
R8467:Cep350 UTSW 1 155,791,321 (GRCm39) missense probably benign 0.03
R8543:Cep350 UTSW 1 155,738,122 (GRCm39) missense probably damaging 0.98
R8714:Cep350 UTSW 1 155,736,477 (GRCm39) missense probably damaging 0.98
R8810:Cep350 UTSW 1 155,803,862 (GRCm39) missense probably damaging 1.00
R8837:Cep350 UTSW 1 155,737,518 (GRCm39) missense probably benign 0.09
R8933:Cep350 UTSW 1 155,739,161 (GRCm39) missense probably benign 0.01
R9043:Cep350 UTSW 1 155,773,228 (GRCm39) missense probably damaging 1.00
R9050:Cep350 UTSW 1 155,738,687 (GRCm39) missense possibly damaging 0.81
R9067:Cep350 UTSW 1 155,737,485 (GRCm39) missense probably benign 0.00
R9105:Cep350 UTSW 1 155,835,561 (GRCm39) missense probably damaging 1.00
R9295:Cep350 UTSW 1 155,738,051 (GRCm39) nonsense probably null
R9304:Cep350 UTSW 1 155,829,464 (GRCm39) missense probably damaging 0.98
R9456:Cep350 UTSW 1 155,744,457 (GRCm39) missense probably benign 0.00
R9575:Cep350 UTSW 1 155,751,113 (GRCm39) missense probably benign 0.03
R9715:Cep350 UTSW 1 155,751,107 (GRCm39) missense probably benign 0.00
R9749:Cep350 UTSW 1 155,828,985 (GRCm39) missense probably benign 0.02
R9758:Cep350 UTSW 1 155,770,433 (GRCm39) missense probably damaging 0.96
R9767:Cep350 UTSW 1 155,739,018 (GRCm39) missense probably benign 0.01
RF020:Cep350 UTSW 1 155,791,224 (GRCm39) missense probably benign 0.34
X0018:Cep350 UTSW 1 155,829,032 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- GTCTGTTAGTAAGCTGACTGTCTCTAG -3'
(R):5'- TGAGAAGTCACTTCCTAGTATGC -3'

Sequencing Primer
(F):5'- AAGCTGACTGTCTCTAGTTGCTGC -3'
(R):5'- GCATAATACAGATGCCTCAGTGG -3'
Posted On 2019-11-26