Incidental Mutation 'R2276:Cep112'
ID 242819
Institutional Source Beutler Lab
Gene Symbol Cep112
Ensembl Gene ENSMUSG00000020728
Gene Name centrosomal protein 112
Synonyms Macoco, Ccdc46, 8430407H02Rik, 1700029K01Rik, 1700001M19Rik
MMRRC Submission 040275-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.602) question?
Stock # R2276 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 108316041-108751441 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108746671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 176 (R176S)
Ref Sequence ENSEMBL: ENSMUSP00000138124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061287] [ENSMUST00000106715] [ENSMUST00000106718] [ENSMUST00000106724] [ENSMUST00000130515] [ENSMUST00000132978] [ENSMUST00000150863] [ENSMUST00000182729] [ENSMUST00000133670]
AlphaFold Q5PR68
Predicted Effect possibly damaging
Transcript: ENSMUST00000061287
AA Change: R919S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000050597
Gene: ENSMUSG00000020728
AA Change: R919S

DomainStartEndE-ValueType
Pfam:DUF4485 13 98 4.8e-31 PFAM
coiled coil region 275 341 N/A INTRINSIC
coiled coil region 397 477 N/A INTRINSIC
coiled coil region 504 954 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106715
AA Change: R138S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102326
Gene: ENSMUSG00000020728
AA Change: R138S

DomainStartEndE-ValueType
coiled coil region 11 158 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106718
AA Change: R117S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102329
Gene: ENSMUSG00000020728
AA Change: R117S

DomainStartEndE-ValueType
coiled coil region 26 173 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106724
AA Change: R67S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102335
Gene: ENSMUSG00000020728
AA Change: R67S

DomainStartEndE-ValueType
coiled coil region 64 102 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129814
Predicted Effect possibly damaging
Transcript: ENSMUST00000130515
AA Change: R919S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114569
Gene: ENSMUSG00000020728
AA Change: R919S

DomainStartEndE-ValueType
Pfam:DUF4485 12 99 5.8e-31 PFAM
coiled coil region 275 341 N/A INTRINSIC
coiled coil region 397 477 N/A INTRINSIC
coiled coil region 504 954 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000132978
AA Change: R176S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138124
Gene: ENSMUSG00000020728
AA Change: R176S

DomainStartEndE-ValueType
coiled coil region 54 155 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000150863
AA Change: R971S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122509
Gene: ENSMUSG00000020728
AA Change: R971S

DomainStartEndE-ValueType
Pfam:DUF4485 12 99 6.8e-28 PFAM
coiled coil region 275 341 N/A INTRINSIC
coiled coil region 397 477 N/A INTRINSIC
coiled coil region 504 566 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000182729
AA Change: R877S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138235
Gene: ENSMUSG00000020728
AA Change: R877S

DomainStartEndE-ValueType
Pfam:DUF4485 12 99 5.4e-31 PFAM
coiled coil region 233 299 N/A INTRINSIC
coiled coil region 355 435 N/A INTRINSIC
coiled coil region 462 912 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000133670
AA Change: R574S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114627
Gene: ENSMUSG00000020728
AA Change: R574S

DomainStartEndE-ValueType
low complexity region 10 29 N/A INTRINSIC
internal_repeat_2 66 104 4.9e-5 PROSPERO
internal_repeat_1 81 110 2.63e-5 PROSPERO
coiled coil region 123 203 N/A INTRINSIC
internal_repeat_3 252 264 4.9e-5 PROSPERO
low complexity region 317 328 N/A INTRINSIC
internal_repeat_2 332 370 4.9e-5 PROSPERO
internal_repeat_3 532 544 4.9e-5 PROSPERO
internal_repeat_1 540 569 2.63e-5 PROSPERO
coiled coil region 571 609 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182735
Meta Mutation Damage Score 0.0952 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T A 14: 78,747,477 (GRCm39) I1637L possibly damaging Het
Ankrd27 T C 7: 35,315,265 (GRCm39) probably benign Het
Anxa3 T C 5: 96,978,349 (GRCm39) probably null Het
Arfgef2 G C 2: 166,707,679 (GRCm39) G1025A probably benign Het
Arhgap21 T C 2: 20,868,037 (GRCm39) I829V possibly damaging Het
Arhgap42 T C 9: 9,035,512 (GRCm39) M277V probably benign Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Cpped1 A C 16: 11,712,745 (GRCm39) probably null Het
Cr2 T C 1: 194,839,676 (GRCm39) R960G possibly damaging Het
Dbf4 T C 5: 8,471,333 (GRCm39) N36S possibly damaging Het
Dnah6 G A 6: 73,090,564 (GRCm39) S2210L probably benign Het
Dnajb12 C T 10: 59,728,799 (GRCm39) T229I probably benign Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Epb41l2 T C 10: 25,364,842 (GRCm39) probably benign Het
Fam178b A G 1: 36,671,539 (GRCm39) L194P probably damaging Het
Fam50b C T 13: 34,930,823 (GRCm39) Q100* probably null Het
Gimap9 A G 6: 48,654,812 (GRCm39) H133R probably benign Het
Gpbp1 A T 13: 111,603,512 (GRCm39) probably null Het
Gpr89 A G 3: 96,804,743 (GRCm39) Y38H probably damaging Het
Gsdmc3 T A 15: 63,732,105 (GRCm39) Y307F probably benign Het
H4c16 T A 6: 136,781,299 (GRCm39) I27F probably damaging Het
Hip1 C T 5: 135,485,900 (GRCm39) R101K probably damaging Het
Hsf4 G A 8: 105,996,628 (GRCm39) D18N probably null Het
Igfn1 T C 1: 135,892,479 (GRCm39) K2214E probably damaging Het
Itgal A T 7: 126,927,919 (GRCm39) E1038V probably null Het
Kank2 C A 9: 21,681,080 (GRCm39) M816I probably damaging Het
Kctd15 T C 7: 34,344,366 (GRCm39) D95G possibly damaging Het
Kif1a A T 1: 92,996,199 (GRCm39) probably benign Het
Lgi4 T G 7: 30,760,037 (GRCm39) L78V probably damaging Het
Lrrc7 A G 3: 157,885,429 (GRCm39) F432L probably damaging Het
Madd A T 2: 90,974,028 (GRCm39) C1419S possibly damaging Het
Nisch T C 14: 30,898,803 (GRCm39) probably benign Het
Or2h1b A T 17: 37,462,145 (GRCm39) C239* probably null Het
Osbpl2 G A 2: 179,790,319 (GRCm39) G198S possibly damaging Het
Pclo T A 5: 14,764,287 (GRCm39) D4253E unknown Het
Phactr1 A T 13: 43,231,265 (GRCm39) S244C possibly damaging Het
Pja2 T C 17: 64,599,865 (GRCm39) S478G probably damaging Het
Prex1 A T 2: 166,419,875 (GRCm39) I79N probably benign Het
Ptpn4 T C 1: 119,612,321 (GRCm39) D24G probably damaging Het
Rars2 T C 4: 34,656,835 (GRCm39) S495P probably damaging Het
Rhebl1 A T 15: 98,776,167 (GRCm39) D162E probably benign Het
Rhou T C 8: 124,382,258 (GRCm39) V100A probably damaging Het
Rpn2 A G 2: 157,152,208 (GRCm39) T394A possibly damaging Het
Ryr3 A T 2: 112,479,664 (GRCm39) M4386K possibly damaging Het
Scmh1 G T 4: 120,340,869 (GRCm39) C185F probably damaging Het
Sema3d A T 5: 12,592,549 (GRCm39) Q326L possibly damaging Het
Sis T A 3: 72,821,934 (GRCm39) K1376* probably null Het
Slc25a29 T C 12: 108,792,852 (GRCm39) E242G probably benign Het
Slc26a5 A G 5: 22,028,545 (GRCm39) V304A probably benign Het
Slc39a7 C T 17: 34,250,241 (GRCm39) probably benign Het
Slco1a4 A G 6: 141,761,308 (GRCm39) V435A possibly damaging Het
Syne2 A G 12: 75,974,240 (GRCm39) E1146G possibly damaging Het
Tgm5 T A 2: 120,879,304 (GRCm39) probably benign Het
Tgm7 A G 2: 120,929,045 (GRCm39) S284P probably damaging Het
Tmem132d G A 5: 127,872,987 (GRCm39) R541W probably damaging Het
Tmem170 C A 8: 112,596,349 (GRCm39) V59L probably benign Het
Tpbgl G T 7: 99,275,233 (GRCm39) A208E possibly damaging Het
Ttc23l A G 15: 10,523,678 (GRCm39) I347T possibly damaging Het
Ulk1 T C 5: 110,936,028 (GRCm39) E827G probably benign Het
Vps13a A G 19: 16,687,790 (GRCm39) V886A possibly damaging Het
Wrn A T 8: 33,814,584 (GRCm39) C44S probably benign Het
Zscan22 T A 7: 12,640,750 (GRCm39) C331* probably null Het
Other mutations in Cep112
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00679:Cep112 APN 11 108,481,879 (GRCm39) missense probably damaging 1.00
IGL00705:Cep112 APN 11 108,362,859 (GRCm39) missense probably benign
IGL00848:Cep112 APN 11 108,362,886 (GRCm39) missense probably damaging 1.00
IGL00975:Cep112 APN 11 108,325,012 (GRCm39) missense probably damaging 1.00
IGL01085:Cep112 APN 11 108,377,432 (GRCm39) missense probably damaging 1.00
IGL01286:Cep112 APN 11 108,750,235 (GRCm39) critical splice donor site probably null
IGL01536:Cep112 APN 11 108,422,237 (GRCm39) missense probably null 0.08
IGL02622:Cep112 APN 11 108,409,509 (GRCm39) missense probably benign 0.26
IGL02720:Cep112 APN 11 108,750,177 (GRCm39) missense probably damaging 0.98
FR4976:Cep112 UTSW 11 108,316,178 (GRCm39) unclassified probably benign
PIT4466001:Cep112 UTSW 11 108,410,722 (GRCm39) missense probably benign
R0727:Cep112 UTSW 11 108,397,380 (GRCm39) missense probably damaging 1.00
R0907:Cep112 UTSW 11 108,461,258 (GRCm39) splice site probably benign
R0908:Cep112 UTSW 11 108,555,323 (GRCm39) missense possibly damaging 0.69
R1236:Cep112 UTSW 11 108,750,200 (GRCm39) missense probably damaging 1.00
R1514:Cep112 UTSW 11 108,362,880 (GRCm39) missense probably damaging 1.00
R2049:Cep112 UTSW 11 108,497,151 (GRCm39) missense probably damaging 0.96
R2058:Cep112 UTSW 11 108,410,087 (GRCm39) critical splice donor site probably null
R2059:Cep112 UTSW 11 108,410,087 (GRCm39) critical splice donor site probably null
R2126:Cep112 UTSW 11 108,399,084 (GRCm39) missense probably damaging 0.98
R2142:Cep112 UTSW 11 108,497,151 (GRCm39) missense probably damaging 0.96
R2196:Cep112 UTSW 11 108,461,187 (GRCm39) missense probably damaging 0.98
R2414:Cep112 UTSW 11 108,643,408 (GRCm39) missense possibly damaging 0.91
R2655:Cep112 UTSW 11 108,328,027 (GRCm39) splice site probably benign
R2882:Cep112 UTSW 11 108,410,038 (GRCm39) missense possibly damaging 0.94
R3001:Cep112 UTSW 11 108,331,329 (GRCm39) missense probably damaging 1.00
R3002:Cep112 UTSW 11 108,331,329 (GRCm39) missense probably damaging 1.00
R3003:Cep112 UTSW 11 108,331,329 (GRCm39) missense probably damaging 1.00
R4407:Cep112 UTSW 11 108,410,027 (GRCm39) missense possibly damaging 0.93
R4796:Cep112 UTSW 11 108,377,818 (GRCm39) critical splice donor site probably null
R4898:Cep112 UTSW 11 108,397,471 (GRCm39) missense probably damaging 0.96
R4899:Cep112 UTSW 11 108,497,110 (GRCm39) missense probably damaging 0.96
R4977:Cep112 UTSW 11 108,325,062 (GRCm39) missense probably damaging 0.97
R5021:Cep112 UTSW 11 108,361,154 (GRCm39) missense possibly damaging 0.86
R5186:Cep112 UTSW 11 108,643,386 (GRCm39) missense probably benign 0.00
R5462:Cep112 UTSW 11 108,409,570 (GRCm39) missense probably damaging 1.00
R5494:Cep112 UTSW 11 108,555,431 (GRCm39) missense probably damaging 1.00
R5506:Cep112 UTSW 11 108,555,429 (GRCm39) missense probably damaging 1.00
R5560:Cep112 UTSW 11 108,328,061 (GRCm39) missense probably damaging 1.00
R5682:Cep112 UTSW 11 108,361,138 (GRCm39) missense probably damaging 1.00
R5857:Cep112 UTSW 11 108,422,297 (GRCm39) splice site probably benign
R5863:Cep112 UTSW 11 108,497,058 (GRCm39) missense probably damaging 1.00
R5884:Cep112 UTSW 11 108,461,142 (GRCm39) missense probably damaging 0.99
R5913:Cep112 UTSW 11 108,648,514 (GRCm39) missense probably damaging 0.99
R6344:Cep112 UTSW 11 108,410,000 (GRCm39) missense probably damaging 0.98
R6498:Cep112 UTSW 11 108,331,357 (GRCm39) missense probably benign 0.25
R6611:Cep112 UTSW 11 108,397,377 (GRCm39) missense possibly damaging 0.71
R6638:Cep112 UTSW 11 108,746,696 (GRCm39) missense probably damaging 1.00
R6916:Cep112 UTSW 11 108,750,202 (GRCm39) missense probably damaging 1.00
R7182:Cep112 UTSW 11 108,573,670 (GRCm39) missense probably benign 0.07
R7262:Cep112 UTSW 11 108,555,467 (GRCm39) missense probably damaging 0.99
R7386:Cep112 UTSW 11 108,699,507 (GRCm39) missense probably benign 0.00
R7539:Cep112 UTSW 11 108,746,654 (GRCm39) missense probably benign 0.38
R8262:Cep112 UTSW 11 108,393,977 (GRCm39) missense probably damaging 1.00
R8681:Cep112 UTSW 11 108,316,478 (GRCm39) critical splice donor site probably null
R8845:Cep112 UTSW 11 108,461,193 (GRCm39) missense probably damaging 1.00
R8955:Cep112 UTSW 11 108,643,260 (GRCm39) missense possibly damaging 0.61
R9213:Cep112 UTSW 11 108,377,779 (GRCm39) missense probably benign
R9348:Cep112 UTSW 11 108,328,076 (GRCm39) missense probably damaging 0.97
R9516:Cep112 UTSW 11 108,648,514 (GRCm39) missense probably damaging 0.99
R9771:Cep112 UTSW 11 108,573,517 (GRCm39) intron probably benign
R9784:Cep112 UTSW 11 108,461,217 (GRCm39) missense probably damaging 1.00
Z1176:Cep112 UTSW 11 108,316,136 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCATGCTAGTACATGCTTTCTGAC -3'
(R):5'- GGGCTGTGAATGAATCTGACC -3'

Sequencing Primer
(F):5'- ACATGCTTTCTGACAATAAAGAGAG -3'
(R):5'- CTGACCCAGTTTTAGGAGACTAGC -3'
Posted On 2014-10-16