Incidental Mutation 'R5090:Cep192'
ID 387726
Institutional Source Beutler Lab
Gene Symbol Cep192
Ensembl Gene ENSMUSG00000024542
Gene Name centrosomal protein 192
Synonyms D430014P18Rik, 4631422C13Rik
MMRRC Submission 042679-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5090 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 67933177-68018241 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67993617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 1977 (H1977Q)
Ref Sequence ENSEMBL: ENSMUSP00000025425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025425]
AlphaFold E9Q4Y4
Predicted Effect possibly damaging
Transcript: ENSMUST00000025425
AA Change: H1977Q

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: H1977Q

DomainStartEndE-ValueType
low complexity region 70 84 N/A INTRINSIC
low complexity region 195 217 N/A INTRINSIC
low complexity region 975 991 N/A INTRINSIC
low complexity region 1189 1204 N/A INTRINSIC
low complexity region 2051 2069 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224921
Predicted Effect unknown
Transcript: ENSMUST00000225303
AA Change: H916Q
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225580
Meta Mutation Damage Score 0.1137 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 99% (66/67)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 119,984,422 (GRCm39) S1168G probably damaging Het
Acsf2 A T 11: 94,462,095 (GRCm39) probably null Het
Ankk1 G T 9: 49,333,063 (GRCm39) S140R probably damaging Het
Ash1l G T 3: 88,960,184 (GRCm39) K2305N probably damaging Het
Asnsd1 C T 1: 53,391,563 (GRCm39) probably benign Het
Atxn7l1 T C 12: 33,376,077 (GRCm39) S51P probably damaging Het
Ccdc88c A G 12: 100,920,439 (GRCm39) L394P probably damaging Het
Cd200r1 T A 16: 44,609,924 (GRCm39) S48T possibly damaging Het
Cemip T C 7: 83,591,343 (GRCm39) E1243G probably damaging Het
Cep250 T C 2: 155,818,324 (GRCm39) L833P probably damaging Het
Chd9 C A 8: 91,753,462 (GRCm39) Y1818* probably null Het
Clca3a1 C A 3: 144,443,633 (GRCm39) V706L probably benign Het
Cntln T C 4: 84,865,830 (GRCm39) V162A probably damaging Het
Col5a1 G A 2: 27,908,614 (GRCm39) W67* probably null Het
Cux1 T A 5: 136,342,054 (GRCm39) N446I possibly damaging Het
Dlg1 G T 16: 31,656,902 (GRCm39) G599W probably damaging Het
Dock7 C T 4: 98,879,648 (GRCm39) V969I probably benign Het
Ephb3 T C 16: 21,033,237 (GRCm39) C74R probably damaging Het
Fads6 T A 11: 115,187,480 (GRCm39) T72S probably benign Het
Fra10ac1 C T 19: 38,202,873 (GRCm39) R110Q probably damaging Het
Gdf3 T A 6: 122,586,713 (GRCm39) L71F probably benign Het
Gm6685 A G 11: 28,289,253 (GRCm39) Y188H probably benign Het
Gm6981 A C 9: 51,914,142 (GRCm39) noncoding transcript Het
Gnpda1 T C 18: 38,465,146 (GRCm39) T157A probably damaging Het
Grap2 A C 15: 80,522,683 (GRCm39) N70H possibly damaging Het
Gvin3 T A 7: 106,200,109 (GRCm39) noncoding transcript Het
Hdac5 G A 11: 102,088,539 (GRCm39) R887C probably damaging Het
Hectd3 T A 4: 116,857,435 (GRCm39) probably benign Het
Hmgcr T C 13: 96,787,098 (GRCm39) K162E probably benign Het
Inpp5e A T 2: 26,289,383 (GRCm39) probably null Het
Kifap3 A G 1: 163,683,645 (GRCm39) D442G possibly damaging Het
Lama3 A G 18: 12,675,459 (GRCm39) T1015A possibly damaging Het
Lcp2 T A 11: 34,039,725 (GRCm39) Y508* probably null Het
Map1b G T 13: 99,566,534 (GRCm39) Y2062* probably null Het
Mipep A G 14: 61,039,748 (GRCm39) D259G possibly damaging Het
Mmp2 T C 8: 93,579,202 (GRCm39) F97S probably damaging Het
Mrpl18 A C 17: 13,132,697 (GRCm39) M144R probably damaging Het
Nek9 A G 12: 85,376,616 (GRCm39) probably null Het
Nmral1 A T 16: 4,532,395 (GRCm39) Y139N probably damaging Het
Notch4 T C 17: 34,799,894 (GRCm39) C952R probably damaging Het
Nsf T C 11: 103,801,404 (GRCm39) N204D probably benign Het
P2rx4 A T 5: 122,863,118 (GRCm39) D197V probably damaging Het
Pak5 A T 2: 135,929,338 (GRCm39) I615N probably damaging Het
Parp10 T C 15: 76,125,925 (GRCm39) D421G probably damaging Het
Pcdha6 A T 18: 37,101,770 (GRCm39) D321V probably benign Het
Pkhd1 T A 1: 20,270,981 (GRCm39) I3191F probably damaging Het
Psmd4 T C 3: 94,942,559 (GRCm39) N7S possibly damaging Het
Ptprq A G 10: 107,361,950 (GRCm39) V2084A probably damaging Het
Rab3gap1 A G 1: 127,843,415 (GRCm39) E263G probably benign Het
Rbm5 A G 9: 107,637,511 (GRCm39) probably benign Het
Sacs T C 14: 61,442,702 (GRCm39) F1583L probably damaging Het
Sel1l3 G T 5: 53,357,388 (GRCm39) H201Q probably benign Het
Shoc1 T C 4: 59,111,108 (GRCm39) T55A unknown Het
Tdpoz3 T A 3: 93,733,870 (GRCm39) W182R possibly damaging Het
Trim55 A G 3: 19,725,771 (GRCm39) N313S probably benign Het
Usp17lb A T 7: 104,490,290 (GRCm39) D212E probably benign Het
Xirp2 A G 2: 67,355,814 (GRCm39) E3525G possibly damaging Het
Zfp236 T C 18: 82,637,006 (GRCm39) T1379A probably benign Het
Zfp553 A T 7: 126,834,659 (GRCm39) E71D probably damaging Het
Znrf1 T G 8: 112,265,035 (GRCm39) F21V probably benign Het
Other mutations in Cep192
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Cep192 APN 18 67,953,407 (GRCm39) missense probably damaging 1.00
IGL00163:Cep192 APN 18 68,013,871 (GRCm39) missense possibly damaging 0.61
IGL00509:Cep192 APN 18 67,991,939 (GRCm39) missense possibly damaging 0.78
IGL01012:Cep192 APN 18 67,945,477 (GRCm39) missense possibly damaging 0.95
IGL01143:Cep192 APN 18 67,937,445 (GRCm39) missense probably damaging 0.97
IGL01302:Cep192 APN 18 67,991,974 (GRCm39) missense probably benign 0.03
IGL01653:Cep192 APN 18 67,986,043 (GRCm39) missense possibly damaging 0.57
IGL02202:Cep192 APN 18 67,936,207 (GRCm39) missense possibly damaging 0.83
IGL02448:Cep192 APN 18 68,002,518 (GRCm39) missense probably benign 0.25
IGL02494:Cep192 APN 18 67,937,453 (GRCm39) missense probably benign 0.00
IGL02574:Cep192 APN 18 67,974,350 (GRCm39) missense probably damaging 0.99
IGL02624:Cep192 APN 18 68,013,866 (GRCm39) missense probably benign 0.20
IGL02646:Cep192 APN 18 67,995,548 (GRCm39) missense probably damaging 1.00
IGL02652:Cep192 APN 18 67,991,921 (GRCm39) splice site probably benign
IGL02684:Cep192 APN 18 67,967,634 (GRCm39) missense probably damaging 0.99
IGL02977:Cep192 APN 18 67,985,976 (GRCm39) missense probably damaging 0.97
IGL03000:Cep192 APN 18 67,985,115 (GRCm39) missense probably damaging 1.00
IGL03133:Cep192 APN 18 67,943,176 (GRCm39) missense probably benign 0.00
IGL03139:Cep192 APN 18 67,961,547 (GRCm39) critical splice donor site probably null
IGL03213:Cep192 APN 18 67,998,708 (GRCm39) missense probably damaging 1.00
IGL03250:Cep192 APN 18 67,940,426 (GRCm39) missense probably benign 0.01
IGL03259:Cep192 APN 18 67,953,483 (GRCm39) missense probably damaging 1.00
R0117:Cep192 UTSW 18 67,983,808 (GRCm39) critical splice donor site probably null
R0180:Cep192 UTSW 18 67,968,559 (GRCm39) missense probably damaging 1.00
R0281:Cep192 UTSW 18 67,961,553 (GRCm39) splice site probably benign
R0374:Cep192 UTSW 18 67,951,954 (GRCm39) nonsense probably null
R0420:Cep192 UTSW 18 67,946,964 (GRCm39) missense possibly damaging 0.91
R0479:Cep192 UTSW 18 67,991,089 (GRCm39) missense probably damaging 1.00
R0652:Cep192 UTSW 18 67,940,336 (GRCm39) missense probably benign 0.04
R1024:Cep192 UTSW 18 67,971,125 (GRCm39) missense probably benign 0.37
R1382:Cep192 UTSW 18 67,989,370 (GRCm39) missense possibly damaging 0.74
R1394:Cep192 UTSW 18 67,991,992 (GRCm39) missense probably damaging 1.00
R1395:Cep192 UTSW 18 67,991,992 (GRCm39) missense probably damaging 1.00
R1641:Cep192 UTSW 18 67,980,504 (GRCm39) missense probably damaging 1.00
R1704:Cep192 UTSW 18 67,989,327 (GRCm39) missense probably damaging 1.00
R1793:Cep192 UTSW 18 67,984,838 (GRCm39) missense possibly damaging 0.74
R1835:Cep192 UTSW 18 67,937,494 (GRCm39) missense possibly damaging 0.95
R1978:Cep192 UTSW 18 67,936,228 (GRCm39) critical splice donor site probably null
R2164:Cep192 UTSW 18 67,953,431 (GRCm39) missense probably damaging 0.99
R2180:Cep192 UTSW 18 67,957,813 (GRCm39) missense possibly damaging 0.82
R2307:Cep192 UTSW 18 67,946,970 (GRCm39) missense probably benign 0.07
R2442:Cep192 UTSW 18 67,957,759 (GRCm39) missense possibly damaging 0.89
R2897:Cep192 UTSW 18 67,988,341 (GRCm39) splice site probably null
R2898:Cep192 UTSW 18 67,988,341 (GRCm39) splice site probably null
R2901:Cep192 UTSW 18 68,002,512 (GRCm39) missense possibly damaging 0.94
R3433:Cep192 UTSW 18 67,967,963 (GRCm39) missense probably benign 0.08
R3620:Cep192 UTSW 18 67,962,928 (GRCm39) missense probably benign 0.00
R3621:Cep192 UTSW 18 67,962,928 (GRCm39) missense probably benign 0.00
R3712:Cep192 UTSW 18 67,953,400 (GRCm39) missense probably benign 0.00
R4559:Cep192 UTSW 18 68,004,584 (GRCm39) missense probably damaging 1.00
R4590:Cep192 UTSW 18 67,949,862 (GRCm39) nonsense probably null
R4591:Cep192 UTSW 18 67,968,039 (GRCm39) missense probably damaging 0.99
R4604:Cep192 UTSW 18 67,948,993 (GRCm39) missense possibly damaging 0.64
R4627:Cep192 UTSW 18 67,945,440 (GRCm39) missense probably benign 0.03
R4725:Cep192 UTSW 18 67,949,837 (GRCm39) missense probably benign
R4738:Cep192 UTSW 18 68,017,901 (GRCm39) nonsense probably null
R4739:Cep192 UTSW 18 67,984,803 (GRCm39) missense probably benign 0.02
R4927:Cep192 UTSW 18 67,968,195 (GRCm39) missense probably benign 0.16
R4948:Cep192 UTSW 18 67,949,875 (GRCm39) missense probably benign 0.00
R5105:Cep192 UTSW 18 67,999,612 (GRCm39) missense probably benign 0.08
R5154:Cep192 UTSW 18 67,983,755 (GRCm39) missense probably damaging 1.00
R5192:Cep192 UTSW 18 67,968,075 (GRCm39) missense probably benign 0.03
R5735:Cep192 UTSW 18 68,013,866 (GRCm39) missense probably benign 0.20
R5812:Cep192 UTSW 18 67,984,808 (GRCm39) missense possibly damaging 0.49
R5869:Cep192 UTSW 18 67,948,935 (GRCm39) missense probably benign 0.01
R5981:Cep192 UTSW 18 67,993,661 (GRCm39) missense probably damaging 1.00
R6131:Cep192 UTSW 18 67,971,068 (GRCm39) missense possibly damaging 0.65
R6335:Cep192 UTSW 18 67,967,784 (GRCm39) missense probably damaging 1.00
R6849:Cep192 UTSW 18 67,945,506 (GRCm39) missense probably benign 0.00
R6861:Cep192 UTSW 18 67,974,699 (GRCm39) missense probably benign 0.43
R7192:Cep192 UTSW 18 67,983,599 (GRCm39) missense probably damaging 0.99
R7264:Cep192 UTSW 18 67,953,426 (GRCm39) missense probably damaging 1.00
R7397:Cep192 UTSW 18 67,989,268 (GRCm39) missense probably damaging 1.00
R7409:Cep192 UTSW 18 67,967,874 (GRCm39) missense possibly damaging 0.76
R7696:Cep192 UTSW 18 67,953,434 (GRCm39) missense probably damaging 1.00
R7756:Cep192 UTSW 18 67,989,384 (GRCm39) missense possibly damaging 0.92
R7758:Cep192 UTSW 18 67,989,384 (GRCm39) missense possibly damaging 0.92
R8247:Cep192 UTSW 18 67,974,188 (GRCm39) missense probably benign 0.02
R8695:Cep192 UTSW 18 67,951,958 (GRCm39) nonsense probably null
R8865:Cep192 UTSW 18 67,967,703 (GRCm39) missense probably benign 0.01
R8935:Cep192 UTSW 18 67,995,543 (GRCm39) missense probably damaging 1.00
R9453:Cep192 UTSW 18 67,989,354 (GRCm39) nonsense probably null
R9571:Cep192 UTSW 18 67,952,109 (GRCm39) missense probably damaging 0.98
R9581:Cep192 UTSW 18 67,980,465 (GRCm39) missense probably damaging 1.00
R9599:Cep192 UTSW 18 67,968,525 (GRCm39) missense probably benign 0.19
R9779:Cep192 UTSW 18 67,968,348 (GRCm39) missense probably damaging 1.00
RF003:Cep192 UTSW 18 67,971,027 (GRCm39) missense probably benign 0.44
X0066:Cep192 UTSW 18 67,945,520 (GRCm39) splice site probably null
Z1176:Cep192 UTSW 18 68,014,359 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGAGCCCCTACTTTGCTACTAC -3'
(R):5'- GCTCAGACTCAGAAGGACAC -3'

Sequencing Primer
(F):5'- AATGATTCCACTACCATTTAAGCTC -3'
(R):5'- GCTCAGACTCAGAAGGACACCATATC -3'
Posted On 2016-06-06