Incidental Mutation 'R4454:Cdkn2d'
ID 329090
Institutional Source Beutler Lab
Gene Symbol Cdkn2d
Ensembl Gene ENSMUSG00000096472
Gene Name cyclin dependent kinase inhibitor 2D
Synonyms INK4d, p19, p19INK4d, INK4d
MMRRC Submission 041714-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R4454 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 21199759-21202553 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 21202185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 21 (V21L)
Ref Sequence ENSEMBL: ENSMUSP00000150701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003397] [ENSMUST00000038671] [ENSMUST00000086374] [ENSMUST00000115433] [ENSMUST00000215619] [ENSMUST00000213407] [ENSMUST00000213762] [ENSMUST00000184326]
AlphaFold Q60773
Predicted Effect probably benign
Transcript: ENSMUST00000003397
SMART Domains Protein: ENSMUSP00000003397
Gene: ENSMUSG00000003309

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 2 141 7.3e-9 PFAM
Pfam:Adap_comp_sub 157 422 7.3e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038671
SMART Domains Protein: ENSMUSP00000039688
Gene: ENSMUSG00000035047

DomainStartEndE-ValueType
low complexity region 20 34 N/A INTRINSIC
low complexity region 50 60 N/A INTRINSIC
low complexity region 98 112 N/A INTRINSIC
low complexity region 181 195 N/A INTRINSIC
Pfam:Kri1 346 439 3.2e-27 PFAM
Pfam:Kri1_C 507 595 8.4e-37 PFAM
low complexity region 653 666 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000086374
AA Change: V21L
SMART Domains Protein: ENSMUSP00000083561
Gene: ENSMUSG00000096472
AA Change: V21L

DomainStartEndE-ValueType
ANK 41 69 1.01e2 SMART
ANK 73 102 1.73e-4 SMART
ANK 106 134 8.89e1 SMART
Blast:ANK 138 166 1e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000115433
SMART Domains Protein: ENSMUSP00000111093
Gene: ENSMUSG00000003309

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 2 141 7.4e-9 PFAM
Pfam:Adap_comp_sub 157 424 4.7e-95 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183912
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184615
Predicted Effect probably benign
Transcript: ENSMUST00000215619
AA Change: V21L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000213407
AA Change: V21L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000213762
Predicted Effect probably benign
Transcript: ENSMUST00000184326
SMART Domains Protein: ENSMUSP00000139184
Gene: ENSMUSG00000035047

DomainStartEndE-ValueType
low complexity region 57 71 N/A INTRINSIC
Pfam:Kri1 207 317 4.4e-27 PFAM
Pfam:Kri1_C 381 472 3.6e-36 PFAM
low complexity region 529 542 N/A INTRINSIC
Meta Mutation Damage Score 0.0587 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 100% (51/51)
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 a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Both female and male homozygous null mice are fertile in spite of testicular atrophy and increased male germ cell apoptosis due to delayed meiosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4e1 T A 2: 126,889,061 (GRCm39) F509I probably damaging Het
Asmt A T X: 169,106,456 (GRCm39) M19L probably benign Het
Atf6 C T 1: 170,621,608 (GRCm39) R471Q probably damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Baiap3 T A 17: 25,468,510 (GRCm39) D250V probably damaging Het
C2cd4d T A 3: 94,271,054 (GRCm39) F107I probably damaging Het
Cldn6 T C 17: 23,900,060 (GRCm39) probably null Het
Cpa5 A G 6: 30,626,323 (GRCm39) N228S possibly damaging Het
Cracdl T C 1: 37,663,834 (GRCm39) E163G probably damaging Het
Crocc T C 4: 140,747,716 (GRCm39) S1478G possibly damaging Het
Csmd1 A T 8: 15,995,011 (GRCm39) C2675S probably damaging Het
Cthrc1 C A 15: 38,940,408 (GRCm39) Q4K probably benign Het
Ddo A T 10: 40,523,543 (GRCm39) I178F probably damaging Het
Dmxl1 A G 18: 50,026,399 (GRCm39) T1836A probably benign Het
Dnah9 T G 11: 66,038,215 (GRCm39) Q107P probably damaging Het
Dusp26 A G 8: 31,584,172 (GRCm39) N93S probably damaging Het
Egr2 GAA GA 10: 67,375,733 (GRCm39) probably null Het
Epha5 T C 5: 84,304,303 (GRCm39) I501V probably damaging Het
Eya1 C T 1: 14,253,420 (GRCm39) V519M probably damaging Het
Fam227b T A 2: 125,988,188 (GRCm39) probably benign Het
Fgd5 C T 6: 91,966,167 (GRCm39) S642F probably damaging Het
Fsip2 G T 2: 82,821,120 (GRCm39) A5618S possibly damaging Het
Gm12034 T A 11: 20,396,476 (GRCm39) noncoding transcript Het
Liph T C 16: 21,803,018 (GRCm39) D17G probably benign Het
Mbd3 A T 10: 80,229,817 (GRCm39) L164H probably damaging Het
Med4 A G 14: 73,755,502 (GRCm39) probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nav2 A T 7: 49,198,292 (GRCm39) probably null Het
Or4k1 T C 14: 50,377,953 (GRCm39) I48V probably benign Het
Or8b1b C A 9: 38,375,938 (GRCm39) F200L probably benign Het
Pcdha11 G A 18: 37,140,426 (GRCm39) G685D probably benign Het
Pgc A G 17: 48,043,335 (GRCm39) I228V probably benign Het
Pramel25 A G 4: 143,519,394 (GRCm39) S52G probably benign Het
Rad51 C T 2: 118,962,049 (GRCm39) H199Y probably damaging Het
Robo2 A T 16: 74,149,407 (GRCm39) probably benign Het
Sap130 C T 18: 31,844,413 (GRCm39) T861I probably damaging Het
Sh3tc2 A T 18: 62,140,844 (GRCm39) D1061V probably damaging Het
Shoc1 T C 4: 59,092,383 (GRCm39) D266G possibly damaging Het
Snapc3 A G 4: 83,336,996 (GRCm39) E119G probably damaging Het
Sspo G A 6: 48,464,159 (GRCm39) G3862D probably benign Het
Tbc1d16 G A 11: 119,048,699 (GRCm39) T318M possibly damaging Het
Thrb T A 14: 18,011,187 (GRCm38) W188R probably damaging Het
Thsd1 T C 8: 22,733,594 (GRCm39) Y214H probably damaging Het
Tnfrsf13b T C 11: 61,032,264 (GRCm39) V98A probably benign Het
Topbp1 T C 9: 103,222,070 (GRCm39) Y1314H probably damaging Het
Ttn C A 2: 76,616,150 (GRCm39) V8271L possibly damaging Het
Ttn T C 2: 76,777,257 (GRCm39) M1382V probably benign Het
Utrn G T 10: 12,603,584 (GRCm39) Q599K possibly damaging Het
Zfp995 G A 17: 22,098,932 (GRCm39) T434I probably benign Het
Zfy1 G T Y: 725,518 (GRCm39) T749K possibly damaging Het
Other mutations in Cdkn2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02516:Cdkn2d APN 9 21,200,439 (GRCm39) missense probably benign 0.04
R0238:Cdkn2d UTSW 9 21,202,288 (GRCm39) start gained probably benign
R0238:Cdkn2d UTSW 9 21,202,288 (GRCm39) start gained probably benign
R2064:Cdkn2d UTSW 9 21,202,175 (GRCm39) missense probably damaging 1.00
R4455:Cdkn2d UTSW 9 21,202,185 (GRCm39) missense probably benign
R4456:Cdkn2d UTSW 9 21,202,185 (GRCm39) missense probably benign
R4457:Cdkn2d UTSW 9 21,202,185 (GRCm39) missense probably benign
R4458:Cdkn2d UTSW 9 21,202,185 (GRCm39) missense probably benign
R4462:Cdkn2d UTSW 9 21,202,185 (GRCm39) missense probably benign
R4463:Cdkn2d UTSW 9 21,202,185 (GRCm39) missense probably benign
R4735:Cdkn2d UTSW 9 21,202,185 (GRCm39) missense probably benign
R4854:Cdkn2d UTSW 9 21,202,223 (GRCm39) missense probably benign
R5493:Cdkn2d UTSW 9 21,200,303 (GRCm39) missense probably benign 0.00
R7560:Cdkn2d UTSW 9 21,200,540 (GRCm39) missense probably damaging 1.00
R8117:Cdkn2d UTSW 9 21,200,447 (GRCm39) missense probably benign 0.01
R9603:Cdkn2d UTSW 9 21,202,139 (GRCm39) missense possibly damaging 0.91
R9762:Cdkn2d UTSW 9 21,200,383 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTAGACAAGAGCTGAAAAGCCATC -3'
(R):5'- GATCATAGAGTTGGCCCTGG -3'

Sequencing Primer
(F):5'- GAGCTGAAAAGCCATCCCCTC -3'
(R):5'- GTGGCACCGCAGTCCCTAG -3'
Posted On 2015-07-21