Incidental Mutation 'R9783:Cdkn2aip'
ID 734166
Institutional Source Beutler Lab
Gene Symbol Cdkn2aip
Ensembl Gene ENSMUSG00000038069
Gene Name CDKN2A interacting protein
Synonyms CARF, 4921511I16Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.687) question?
Stock # R9783 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 48162379-48166966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48164090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 541 (V541A)
Ref Sequence ENSEMBL: ENSMUSP00000148441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038738] [ENSMUST00000212175]
AlphaFold Q8BI72
Predicted Effect probably benign
Transcript: ENSMUST00000038738
SMART Domains Protein: ENSMUSP00000043713
Gene: ENSMUSG00000038069

DomainStartEndE-ValueType
Pfam:XTBD 19 117 1e-34 PFAM
low complexity region 168 199 N/A INTRINSIC
low complexity region 204 216 N/A INTRINSIC
low complexity region 234 248 N/A INTRINSIC
low complexity region 270 280 N/A INTRINSIC
low complexity region 303 356 N/A INTRINSIC
low complexity region 378 397 N/A INTRINSIC
Blast:DSRM 449 514 4e-6 BLAST
low complexity region 515 531 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000212175
AA Change: V541A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.7%
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 regulates the DNA damage response through several different signaling pathways. One such pathway is the p53-HDM2-p21(WAF1) pathway, which is critical to the DNA damage response. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cep170b C A 12: 112,711,118 (GRCm39) D1499E probably damaging Het
Cers2 T C 3: 95,229,438 (GRCm39) S248P probably benign Het
Chd5 T A 4: 152,458,865 (GRCm39) I1076N probably damaging Het
Col6a2 T C 10: 76,440,720 (GRCm39) probably null Het
D6Ertd527e G A 6: 87,088,602 (GRCm39) G255D unknown Het
Dennd5b T C 6: 148,911,342 (GRCm39) T954A probably damaging Het
Dmc1 A G 15: 79,484,296 (GRCm39) L65P probably damaging Het
Dock2 A G 11: 34,208,128 (GRCm39) Y1307H possibly damaging Het
Gckr G A 5: 31,466,399 (GRCm39) S458N probably benign Het
Gpx4 T C 10: 79,890,851 (GRCm39) V181A possibly damaging Het
Hmcn1 C T 1: 150,598,380 (GRCm39) E1641K probably benign Het
Htr7 A G 19: 35,946,787 (GRCm39) I409T probably damaging Het
Ighv8-9 C T 12: 115,431,994 (GRCm39) V106M probably benign Het
Kri1 T C 9: 21,190,709 (GRCm39) E384G Het
Lyz3 T C 10: 117,073,653 (GRCm39) N60S possibly damaging Het
Mfhas1 T C 8: 36,057,934 (GRCm39) L803P probably damaging Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Noxa1 C A 2: 24,985,053 (GRCm39) probably benign Het
Or1j16 A G 2: 36,530,161 (GRCm39) T37A probably benign Het
Or5d38 A T 2: 87,954,610 (GRCm39) F240I probably benign Het
Otof T C 5: 30,536,576 (GRCm39) K1302E probably benign Het
Pdcl A G 2: 37,242,174 (GRCm39) V192A probably benign Het
Plxdc2 C T 2: 16,674,349 (GRCm39) Q310* probably null Het
Pola2 C T 19: 5,990,904 (GRCm39) V597M probably damaging Het
Prkcd T A 14: 30,321,444 (GRCm39) Y549F probably damaging Het
Rho T C 6: 115,910,920 (GRCm39) M155T probably benign Het
Scap C T 9: 110,202,132 (GRCm39) H167Y probably benign Het
Sfn T C 4: 133,329,128 (GRCm39) probably benign Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc13a2 T A 11: 78,294,177 (GRCm39) T235S probably damaging Het
Slc40a1 A G 1: 45,951,513 (GRCm39) S215P probably damaging Het
Spam1 G A 6: 24,796,226 (GRCm39) R59H probably benign Het
Tmeff1 T C 4: 48,662,005 (GRCm39) C347R probably damaging Het
Tmprss15 T C 16: 78,887,890 (GRCm39) probably benign Het
Ugt2b37 G T 5: 87,388,840 (GRCm39) L458M probably damaging Het
Unc13c T A 9: 73,392,227 (GRCm39) I2042F probably benign Het
Zfp12 C A 5: 143,230,513 (GRCm39) T312K probably damaging Het
Other mutations in Cdkn2aip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01467:Cdkn2aip APN 8 48,164,247 (GRCm39) missense probably damaging 0.98
IGL02422:Cdkn2aip APN 8 48,164,534 (GRCm39) missense probably damaging 0.98
IGL03346:Cdkn2aip APN 8 48,166,653 (GRCm39) missense probably benign
R0269:Cdkn2aip UTSW 8 48,165,012 (GRCm39) missense probably damaging 0.99
R0557:Cdkn2aip UTSW 8 48,165,977 (GRCm39) missense probably damaging 0.99
R0788:Cdkn2aip UTSW 8 48,166,798 (GRCm39) missense possibly damaging 0.95
R1915:Cdkn2aip UTSW 8 48,164,961 (GRCm39) missense probably benign 0.24
R1990:Cdkn2aip UTSW 8 48,165,211 (GRCm39) missense probably benign 0.27
R2101:Cdkn2aip UTSW 8 48,166,036 (GRCm39) missense probably damaging 0.98
R3081:Cdkn2aip UTSW 8 48,164,532 (GRCm39) missense probably damaging 0.97
R4324:Cdkn2aip UTSW 8 48,165,208 (GRCm39) missense probably benign 0.00
R4765:Cdkn2aip UTSW 8 48,166,582 (GRCm39) missense probably damaging 1.00
R4983:Cdkn2aip UTSW 8 48,165,964 (GRCm39) missense probably damaging 1.00
R4985:Cdkn2aip UTSW 8 48,166,480 (GRCm39) intron probably benign
R6968:Cdkn2aip UTSW 8 48,166,922 (GRCm39) start gained probably benign
R7402:Cdkn2aip UTSW 8 48,164,408 (GRCm39) missense possibly damaging 0.94
R9034:Cdkn2aip UTSW 8 48,164,243 (GRCm39) missense probably damaging 0.99
R9729:Cdkn2aip UTSW 8 48,166,654 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- GCTCTACTTTAGTGAAGAGAACGAG -3'
(R):5'- CCCACTGAAAGAACTGGCAG -3'

Sequencing Primer
(F):5'- AGAGAACGAGAATTTAAATTTTCTGC -3'
(R):5'- GAGCTCTCAAGAAAGTATTGTCTGTG -3'
Posted On 2022-11-14