Incidental Mutation 'R3081:Cdkn2aip'
ID 265424
Institutional Source Beutler Lab
Gene Symbol Cdkn2aip
Ensembl Gene ENSMUSG00000038069
Gene Name CDKN2A interacting protein
Synonyms CARF, 4921511I16Rik
MMRRC Submission 040571-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.687) question?
Stock # R3081 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 48162379-48166966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48164532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 394 (K394E)
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 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 probably damaging
Transcript: ENSMUST00000212175
AA Change: K394E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212658
Meta Mutation Damage Score 0.1575 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (58/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamdc T A 7: 97,214,432 (GRCm39) T48S probably benign Het
Abcc3 T A 11: 94,247,802 (GRCm39) L1230F probably damaging Het
Abcf3 T A 16: 20,378,114 (GRCm39) I542N probably benign Het
Als2 A G 1: 59,226,508 (GRCm39) L932P probably damaging Het
Arhgap45 G A 10: 79,862,281 (GRCm39) R583H probably damaging Het
Asl T C 5: 130,042,245 (GRCm39) Y277C probably damaging Het
Bcl9 A T 3: 97,112,989 (GRCm39) N1155K possibly damaging Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Cfap70 A G 14: 20,470,830 (GRCm39) Y472H probably damaging Het
Cfap77 T A 2: 28,852,662 (GRCm39) K203N probably damaging Het
Cldn14 T C 16: 93,716,192 (GRCm39) K218R probably damaging Het
Coro6 T C 11: 77,359,738 (GRCm39) F336S probably damaging Het
Derl1 C A 15: 57,739,007 (GRCm39) probably benign Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dock2 T A 11: 34,181,610 (GRCm39) H1651L probably benign Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Dzip3 T C 16: 48,747,921 (GRCm39) H1163R probably damaging Het
Efcab9 T C 11: 32,473,689 (GRCm39) D35G probably benign Het
Evpl T C 11: 116,111,678 (GRCm39) D2004G probably damaging Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fastkd3 T C 13: 68,732,987 (GRCm39) V436A probably benign Het
Fbxl5 A G 5: 43,908,222 (GRCm39) Y660H probably damaging Het
Glt8d1 T C 14: 30,728,617 (GRCm39) V15A probably benign Het
Gpr25 A C 1: 136,187,623 (GRCm39) I330S possibly damaging Het
Hdac5 A T 11: 102,096,436 (GRCm39) V257E probably damaging Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Lrriq1 T A 10: 102,980,750 (GRCm39) S1462C probably damaging Het
Mgat3 A G 15: 80,096,055 (GRCm39) D294G probably benign Het
Mylk2 A G 2: 152,761,274 (GRCm39) N459S probably benign Het
Myo3b A C 2: 70,086,927 (GRCm39) probably benign Het
Naip6 T C 13: 100,436,961 (GRCm39) T521A probably benign Het
Nfxl1 C T 5: 72,686,378 (GRCm39) A608T possibly damaging Het
Nmd3 A G 3: 69,631,732 (GRCm39) probably benign Het
Nol8 C T 13: 49,831,868 (GRCm39) probably benign Het
Or1e29 A T 11: 73,668,051 (GRCm39) M34K probably damaging Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8b42 T A 9: 38,342,352 (GRCm39) M258K possibly damaging Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pcdhgb2 T C 18: 37,824,566 (GRCm39) F519S probably damaging Het
Phf11c A G 14: 59,618,933 (GRCm39) V284A probably benign Het
Rasl11a G T 5: 146,784,113 (GRCm39) C186F probably benign Het
Rps18-ps3 T C 8: 107,989,469 (GRCm39) noncoding transcript Het
Rusc1 A G 3: 88,999,030 (GRCm39) S251P possibly damaging Het
Rxfp3 T C 15: 11,037,303 (GRCm39) E23G probably benign Het
Senp6 G A 9: 80,051,124 (GRCm39) A1134T probably benign Het
Slc22a4 A G 11: 53,898,615 (GRCm39) V159A probably benign Het
Spata31d1a T C 13: 59,850,907 (GRCm39) N407S probably benign Het
Ssc4d T C 5: 135,994,578 (GRCm39) T51A possibly damaging Het
Stip1 C T 19: 7,013,016 (GRCm39) A23T probably benign Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Tmed4 T C 11: 6,224,151 (GRCm39) H115R probably benign Het
Tmem255b T A 8: 13,501,048 (GRCm39) L74H probably damaging Het
Trav6n-5 A T 14: 53,342,741 (GRCm39) H93L possibly damaging Het
Tsen54 T A 11: 115,710,990 (GRCm39) D187E probably benign Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Vmn2r88 A G 14: 51,656,089 (GRCm39) N775S probably damaging Het
Vps13a G T 19: 16,642,101 (GRCm39) N2175K probably benign Het
Wnk4 A G 11: 101,167,717 (GRCm39) probably benign Het
Zfp180 A T 7: 23,804,928 (GRCm39) Q449L 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
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'- ACATCCAGTGTTGCTTTCAGAGC -3'
(R):5'- AAACAGTTCATCGTCAGGCAG -3'

Sequencing Primer
(F):5'- GCTTTCAGAGCCTCAATAGCCG -3'
(R):5'- ATCGTCAGGCAGCTCTTTACTAAC -3'
Posted On 2015-02-05