Incidental Mutation 'R2318:Cinp'
ID 245567
Institutional Source Beutler Lab
Gene Symbol Cinp
Ensembl Gene ENSMUSG00000021276
Gene Name cyclin dependent kinase 2 interacting protein
Synonyms 1810047K05Rik, 2810452K22Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2318 (G1)
Quality Score 191
Status Not validated
Chromosome 12
Chromosomal Location 110839044-110855579 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 110840443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 113 (W113L)
Ref Sequence ENSEMBL: ENSMUSP00000152089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043716] [ENSMUST00000170060] [ENSMUST00000220607] [ENSMUST00000221102] [ENSMUST00000221182] [ENSMUST00000222457]
AlphaFold Q9D0V8
Predicted Effect probably damaging
Transcript: ENSMUST00000043716
AA Change: W186L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035245
Gene: ENSMUSG00000021276
AA Change: W186L

DomainStartEndE-ValueType
low complexity region 54 78 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170060
SMART Domains Protein: ENSMUSP00000131841
Gene: ENSMUSG00000021271

DomainStartEndE-ValueType
low complexity region 271 278 N/A INTRINSIC
ZnF_C2H2 295 320 3.02e0 SMART
low complexity region 377 388 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000220607
AA Change: W236L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220631
Predicted Effect probably benign
Transcript: ENSMUST00000221102
Predicted Effect probably damaging
Transcript: ENSMUST00000221182
AA Change: W113L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000221414
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223407
Predicted Effect probably benign
Transcript: ENSMUST00000222457
Predicted Effect probably benign
Transcript: ENSMUST00000223170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221901
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is reported to be a component of the DNA replication complex as well as a genome-maintenance protein. It may interact with proteins important for replication initiation and has been shown to bind chromatin at the G1 phase of the cell cycle and dissociate from chromatin with replication initiation. It may also serve to regulate checkpoint signaling as part of the DNA damage response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef10 G A 8: 14,978,855 (GRCm39) A41T probably damaging Het
Car15 T C 16: 17,654,463 (GRCm39) M158V probably benign Het
Col4a3 T A 1: 82,626,290 (GRCm39) probably null Het
Csnk2b T C 17: 35,337,037 (GRCm39) Y101C possibly damaging Het
Ddb1 C T 19: 10,603,992 (GRCm39) R900C probably damaging Het
Eif4g2 A G 7: 110,673,065 (GRCm39) F876L possibly damaging Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
H4c4 A G 13: 23,765,739 (GRCm39) Y52C probably damaging Het
Mast1 T C 8: 85,647,754 (GRCm39) D540G probably damaging Het
Mis18bp1 C T 12: 65,187,617 (GRCm39) V829M possibly damaging Het
Mtus2 C T 5: 148,043,892 (GRCm39) R827* probably null Het
Nlrp9a G A 7: 26,273,277 (GRCm39) V860M probably damaging Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Prr14l T C 5: 32,987,422 (GRCm39) E691G probably benign Het
Rad1 A G 15: 10,490,495 (GRCm39) N154S probably benign Het
Sanbr A G 11: 23,538,701 (GRCm39) Y66H probably damaging Het
Slc10a4-ps T C 5: 72,743,638 (GRCm39) T27A probably benign Het
Smc2 T C 4: 52,446,030 (GRCm39) S133P probably damaging Het
Sstr1 T A 12: 58,259,562 (GRCm39) S62T possibly damaging Het
Thsd7a T C 6: 12,405,146 (GRCm39) Y766C probably damaging Het
Timm44 A G 8: 4,318,307 (GRCm39) V129A probably benign Het
Tinag T C 9: 76,952,693 (GRCm39) Y97C probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ubap2 A G 4: 41,251,542 (GRCm39) V30A probably damaging Het
Other mutations in Cinp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4812:Cinp UTSW 12 110,846,174 (GRCm39) missense probably damaging 1.00
R4908:Cinp UTSW 12 110,850,487 (GRCm39) missense probably damaging 0.99
R5209:Cinp UTSW 12 110,840,494 (GRCm39) missense probably benign 0.03
R5303:Cinp UTSW 12 110,843,295 (GRCm39) missense probably damaging 1.00
R7635:Cinp UTSW 12 110,850,447 (GRCm39) missense possibly damaging 0.64
R7867:Cinp UTSW 12 110,840,557 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- AGTGGAGCTTCATGACACCC -3'
(R):5'- AAGGACAGTGCTTTCTCACG -3'

Sequencing Primer
(F):5'- GGACCCTCAAAGTATCTGGCCTTG -3'
(R):5'- AGTGCTTTCTCACGCAGCC -3'
Posted On 2014-10-30