Incidental Mutation 'R9599:Cep192'
ID 723498
Institutional Source Beutler Lab
Gene Symbol Cep192
Ensembl Gene ENSMUSG00000024542
Gene Name centrosomal protein 192
Synonyms D430014P18Rik, 4631422C13Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9599 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 67933177-68018241 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67968525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 973 (D973G)
Ref Sequence ENSEMBL: ENSMUSP00000025425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025425]
AlphaFold E9Q4Y4
Predicted Effect probably benign
Transcript: ENSMUST00000025425
AA Change: D973G

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: D973G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,774,267 (GRCm39) N1152S probably benign Het
Abcb6 A T 1: 75,151,372 (GRCm39) Y518N possibly damaging Het
Actr2 G A 11: 20,030,745 (GRCm39) P168S probably damaging Het
Adam12 A G 7: 133,566,454 (GRCm39) V332A probably damaging Het
Adam23 T C 1: 63,620,359 (GRCm39) I805T probably benign Het
Adar A G 3: 89,654,516 (GRCm39) T883A probably benign Het
Aldh3a1 A G 11: 61,107,912 (GRCm39) T319A probably damaging Het
Apcdd1 T A 18: 63,083,269 (GRCm39) probably null Het
Arhgef18 C A 8: 3,482,718 (GRCm39) A141E possibly damaging Het
Bub3 A G 7: 131,170,428 (GRCm39) T317A probably benign Het
Ccdc102a A G 8: 95,639,901 (GRCm39) L131P probably damaging Het
Ccdc60 C A 5: 116,269,265 (GRCm39) D452Y probably damaging Het
Ccdc66 T C 14: 27,219,381 (GRCm39) E125G probably damaging Het
Ccdc68 A G 18: 70,093,492 (GRCm39) E233G probably damaging Het
Cox5b T A 1: 36,730,759 (GRCm39) M31K probably benign Het
Cse1l A G 2: 166,783,386 (GRCm39) N780S probably benign Het
Cyfip1 T C 7: 55,563,277 (GRCm39) probably null Het
Cyp1a1 C T 9: 57,607,770 (GRCm39) P133S probably benign Het
Dcp1a A G 14: 30,241,497 (GRCm39) M436V probably benign Het
Dcst1 G T 3: 89,265,075 (GRCm39) Y258* probably null Het
Dhx30 T C 9: 109,914,518 (GRCm39) E993G possibly damaging Het
Disc1 A T 8: 125,814,261 (GRCm39) M42L possibly damaging Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,979,841 (GRCm39) probably null Het
Entrep3 A G 3: 89,094,099 (GRCm39) D304G possibly damaging Het
Erbb2 A T 11: 98,318,216 (GRCm39) D484V probably benign Het
Fxr2 A G 11: 69,543,469 (GRCm39) N657D probably benign Het
Gbx2 T C 1: 89,856,635 (GRCm39) T252A probably damaging Het
Gdap2 A T 3: 100,078,264 (GRCm39) N76I probably damaging Het
Gm20939 A G 17: 95,184,666 (GRCm39) Y438C probably damaging Het
Gsdma2 A G 11: 98,540,459 (GRCm39) E126G possibly damaging Het
Gsg1 T G 6: 135,217,098 (GRCm39) H246P probably damaging Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Ighv1-62-1 T C 12: 115,350,601 (GRCm39) Q22R possibly damaging Het
Kcng3 A T 17: 83,895,211 (GRCm39) F418L probably benign Het
Lin54 C A 5: 100,598,546 (GRCm39) R593L probably damaging Het
Lrp1 T A 10: 127,410,246 (GRCm39) N1500I probably damaging Het
Lvrn A C 18: 46,999,494 (GRCm39) S287R probably benign Het
Mab21l4 T C 1: 93,087,568 (GRCm39) E95G possibly damaging Het
Madd G A 2: 91,006,026 (GRCm39) P390S probably damaging Het
Mapk8ip3 C A 17: 25,118,124 (GRCm39) R1281L probably damaging Het
Masp1 T A 16: 23,271,698 (GRCm39) T618S probably benign Het
Mgat5 A G 1: 127,248,445 (GRCm39) T116A probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mrpl39 A G 16: 84,527,359 (GRCm39) F176S probably damaging Het
Myt1l T C 12: 29,943,441 (GRCm39) I953T unknown Het
Nedd4l A G 18: 65,343,400 (GRCm39) H820R probably damaging Het
Nxpe3 A T 16: 55,664,855 (GRCm39) V455D probably damaging Het
Olfm4 T C 14: 80,243,747 (GRCm39) F105S probably damaging Het
Or10ak8 C T 4: 118,773,851 (GRCm39) R271Q probably benign Het
Patz1 A G 11: 3,240,720 (GRCm39) N36S probably benign Het
Peg3 T A 7: 6,714,723 (GRCm39) K166N probably damaging Het
Pes1 T A 11: 3,926,118 (GRCm39) D302E probably benign Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Plekhh3 G A 11: 101,054,972 (GRCm39) T627M unknown Het
Plxnd1 C T 6: 115,940,274 (GRCm39) R1370Q possibly damaging Het
Rnf20 T C 4: 49,638,751 (GRCm39) V191A probably benign Het
Scn8a A T 15: 100,911,172 (GRCm39) K864M probably damaging Het
Sema3c T C 5: 17,919,452 (GRCm39) probably null Het
Slc24a4 C T 12: 102,097,779 (GRCm39) T30I probably benign Het
Slc27a2 A G 2: 126,420,904 (GRCm39) D465G probably damaging Het
Snrnp48 T C 13: 38,393,920 (GRCm39) M75T probably benign Het
Srgap2 A G 1: 131,272,164 (GRCm39) S41P Het
St3gal5 A G 6: 72,130,580 (GRCm39) T391A probably benign Het
Stkld1 T C 2: 26,843,297 (GRCm39) L628P possibly damaging Het
Tbc1d1 T A 5: 64,502,701 (GRCm39) M1074K probably benign Het
Tent2 G T 13: 93,322,821 (GRCm39) Q43K probably benign Het
Tpsb2 T A 17: 25,586,077 (GRCm39) Y98* probably null Het
Trav6d-3 G A 14: 52,964,144 (GRCm39) D36N probably benign Het
Trim16 A G 11: 62,731,644 (GRCm39) Y505C probably damaging Het
Ttpal A G 2: 163,457,458 (GRCm39) D310G probably benign Het
Ubox5 A G 2: 130,441,835 (GRCm39) I284T probably damaging Het
Vmn2r45 T A 7: 8,478,457 (GRCm39) probably null Het
Vmn2r67 T C 7: 84,804,941 (GRCm39) D57G probably damaging Het
Wdfy4 T C 14: 32,855,428 (GRCm39) T729A Het
Wdr81 A T 11: 75,344,349 (GRCm39) M306K probably benign Het
Zfp62 A G 11: 49,106,542 (GRCm39) D211G probably damaging Het
Zfyve16 T C 13: 92,636,763 (GRCm39) K1316E probably damaging 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
R5090:Cep192 UTSW 18 67,993,617 (GRCm39) missense possibly damaging 0.60
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
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'- GCACGTCACCTTTGAAGACG -3'
(R):5'- GCAATGCTGTATGGGGAATG -3'

Sequencing Primer
(F):5'- ACGGTCTTGTGGTCTTACCTAAAAG -3'
(R):5'- CCCTTTCTCAGTATAAACTAAGGTGG -3'
Posted On 2022-08-09