Incidental Mutation 'R0788:Cdkn2aip'
ID 76353
Institutional Source Beutler Lab
Gene Symbol Cdkn2aip
Ensembl Gene ENSMUSG00000038069
Gene Name CDKN2A interacting protein
Synonyms CARF, 4921511I16Rik
MMRRC Submission 038968-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.687) question?
Stock # R0788 (G1)
Quality Score 183
Status Validated
Chromosome 8
Chromosomal Location 48162379-48166966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48166798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 3 (Q3L)
Ref Sequence ENSEMBL: ENSMUSP00000043713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038738] [ENSMUST00000212175]
AlphaFold Q8BI72
Predicted Effect possibly damaging
Transcript: ENSMUST00000038738
AA Change: Q3L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043713
Gene: ENSMUSG00000038069
AA Change: Q3L

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 noncoding transcript
Transcript: ENSMUST00000180928
SMART Domains Protein: ENSMUSP00000137808
Gene: ENSMUSG00000097706

DomainStartEndE-ValueType
low complexity region 112 120 N/A INTRINSIC
low complexity region 196 207 N/A INTRINSIC
low complexity region 234 239 N/A INTRINSIC
low complexity region 259 292 N/A INTRINSIC
low complexity region 302 312 N/A INTRINSIC
low complexity region 316 331 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000212175
AA Change: Q3L

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212658
Meta Mutation Damage Score 0.0744 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 93.0%
Validation Efficiency 98% (53/54)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,610,468 (GRCm39) Y380* probably null Het
4931406B18Rik C A 7: 43,148,623 (GRCm39) S196I probably damaging Het
Ablim2 T C 5: 36,015,245 (GRCm39) S519P probably benign Het
Adnp2 A C 18: 80,173,219 (GRCm39) C397G probably benign Het
Aldh1l2 A G 10: 83,352,028 (GRCm39) S156P probably damaging Het
Bcl2l15 G T 3: 103,740,794 (GRCm39) probably null Het
Brd9 T A 13: 74,092,986 (GRCm39) probably benign Het
Cars2 A C 8: 11,579,672 (GRCm39) I262R possibly damaging Het
Ccdc106 T C 7: 5,060,533 (GRCm39) probably benign Het
Cdh3 G A 8: 107,268,047 (GRCm39) V361M probably benign Het
Cdhr1 A C 14: 36,809,332 (GRCm39) probably null Het
Cdk5rap2 A G 4: 70,225,468 (GRCm39) I559T possibly damaging Het
Chd1 G T 17: 15,927,376 (GRCm39) V10F possibly damaging Het
Col4a4 G A 1: 82,502,717 (GRCm39) P356S unknown Het
Col6a4 T C 9: 105,949,197 (GRCm39) K813E probably benign Het
Cttnbp2 G A 6: 18,423,834 (GRCm39) T830I probably damaging Het
Cyp2t4 A G 7: 26,854,588 (GRCm39) M23V probably null Het
Cyp3a16 T C 5: 145,401,886 (GRCm39) K59E probably benign Het
Dpysl5 G A 5: 30,946,185 (GRCm39) probably null Het
E130308A19Rik T A 4: 59,719,847 (GRCm39) Y460N possibly damaging Het
Ear6 T A 14: 52,091,487 (GRCm39) C11* probably null Het
Fat1 C T 8: 45,477,020 (GRCm39) T1999M probably benign Het
Gsdmd T A 15: 75,736,103 (GRCm39) C77* probably null Het
Hsp90ab1 ACTTCTT ACTT 17: 45,880,425 (GRCm39) probably benign Het
Kif28 A T 1: 179,532,788 (GRCm39) probably benign Het
Krt6b A G 15: 101,585,954 (GRCm39) I373T probably damaging Het
Lgr5 T C 10: 115,288,902 (GRCm39) T509A probably damaging Het
Mapkbp1 C T 2: 119,854,482 (GRCm39) P1354S probably benign Het
Nat10 A G 2: 103,573,460 (GRCm39) S346P probably damaging Het
Ncoa2 T C 1: 13,237,113 (GRCm39) probably benign Het
Necap1 C T 6: 122,858,495 (GRCm39) R113W probably damaging Het
Or1l4 T A 2: 37,092,035 (GRCm39) Y261N possibly damaging Het
Orc4 A T 2: 48,827,479 (GRCm39) V38E possibly damaging Het
Per1 G A 11: 68,992,185 (GRCm39) probably benign Het
Polb T C 8: 23,132,354 (GRCm39) D130G probably null Het
Ppcs T C 4: 119,279,375 (GRCm39) N59S probably damaging Het
Ppp2ca A G 11: 52,003,969 (GRCm39) E42G possibly damaging Het
Ptprf T C 4: 118,083,663 (GRCm39) T807A probably damaging Het
Rapgef2 A C 3: 79,006,502 (GRCm39) F284V possibly damaging Het
Sestd1 A T 2: 77,022,060 (GRCm39) F544I probably damaging Het
Slfn3 G A 11: 83,103,662 (GRCm39) G178S possibly damaging Het
Supt6 G A 11: 78,098,598 (GRCm39) probably benign Het
Tas2r109 T A 6: 132,957,264 (GRCm39) Q222L probably benign Het
Tekt4 A C 17: 25,691,021 (GRCm39) D109A probably damaging Het
Tob2 C A 15: 81,735,903 (GRCm39) R22L probably damaging Het
Ttn T G 2: 76,653,282 (GRCm39) E178D possibly damaging Het
Ube2u C A 4: 100,371,937 (GRCm39) probably benign Het
Uggt2 A G 14: 119,332,812 (GRCm39) probably benign Het
Vstm2a T C 11: 16,209,968 (GRCm39) F65L probably damaging Het
Zfp57 A G 17: 37,317,092 (GRCm39) probably benign Het
Znrf3 G T 11: 5,231,320 (GRCm39) P731Q probably benign 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
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
R9783:Cdkn2aip UTSW 8 48,164,090 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AACTCCATCTGCCGGGCGCATA -3'
(R):5'- ACTGGGCGCTGCAAAGCATCCT -3'

Sequencing Primer
(F):5'- TAGGAAGACATGGTTCGCCC -3'
(R):5'- CGGCGGCGAGGTTATAAAAG -3'
Posted On 2013-10-16