Incidental Mutation 'R4735:Cdkn2d'
ID 356486
Institutional Source Beutler Lab
Gene Symbol Cdkn2d
Ensembl Gene ENSMUSG00000096472
Gene Name cyclin dependent kinase inhibitor 2D
Synonyms INK4d, p19, p19INK4d, INK4d
MMRRC Submission 041962-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R4735 (G1)
Quality Score 225
Status Not 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: 98.6%
  • 10x: 97.1%
  • 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 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: 133 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,262,897 (GRCm39) I1410N possibly damaging Het
9230106D20Rik T C 10: 19,536,001 (GRCm39) noncoding transcript Het
Acsf3 T A 8: 123,508,218 (GRCm39) I238N probably damaging Het
Ahctf1 T C 1: 179,580,964 (GRCm39) N1746S probably benign Het
Akap3 T C 6: 126,842,601 (GRCm39) S407P probably damaging Het
Ankfy1 T A 11: 72,621,437 (GRCm39) M241K probably benign Het
Ano7 C A 1: 93,328,216 (GRCm39) T622K probably benign Het
App T C 16: 84,900,202 (GRCm39) T83A probably damaging Het
Arhgef28 T A 13: 98,036,237 (GRCm39) E1674V probably damaging Het
Asb2 C A 12: 103,291,317 (GRCm39) V489L probably benign Het
Atrn T C 2: 130,862,910 (GRCm39) V1330A probably benign Het
Bltp1 T A 3: 37,059,116 (GRCm39) N3267K possibly damaging Het
Brca1 A G 11: 101,383,001 (GRCm39) probably null Het
Bspry G A 4: 62,404,762 (GRCm39) R186Q probably damaging Het
Ccdc168 A G 1: 44,100,861 (GRCm39) I79T probably benign Het
Celsr1 T A 15: 85,790,230 (GRCm39) probably null Het
Ckap4 A G 10: 84,369,384 (GRCm39) V116A possibly damaging Het
Crb3 A G 17: 57,372,207 (GRCm39) T85A probably damaging Het
Cyld T C 8: 89,456,278 (GRCm39) S443P probably damaging Het
Cyp27a1 T G 1: 74,776,366 (GRCm39) V434G possibly damaging Het
Cyp2b13 A G 7: 25,787,720 (GRCm39) T339A probably benign Het
Dars1 A T 1: 128,303,971 (GRCm39) L252* probably null Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Ddx55 T C 5: 124,704,539 (GRCm39) F382S probably damaging Het
Dmtf1l T A X: 125,722,217 (GRCm39) K296M probably damaging Het
Dnah7b G A 1: 46,106,115 (GRCm39) R33Q unknown Het
Dnm2 G T 9: 21,385,883 (GRCm39) S302I probably damaging Het
Dock4 T A 12: 40,681,525 (GRCm39) F75I probably benign Het
Dpp10 T C 1: 123,326,356 (GRCm39) N365S probably benign Het
Dpy19l3 G T 7: 35,422,146 (GRCm39) Q236K probably benign Het
Dsp T C 13: 38,380,016 (GRCm39) S1655P probably damaging Het
Ebpl A T 14: 61,579,567 (GRCm39) I117N probably damaging Het
Edc4 T A 8: 106,613,818 (GRCm39) V386E probably damaging Het
Eif2s2 T A 2: 154,720,467 (GRCm39) probably null Het
Elob A T 17: 24,046,562 (GRCm39) probably null Het
Enox2 T C X: 48,158,554 (GRCm39) I71V probably damaging Het
Fez1 A T 9: 36,772,141 (GRCm39) K149* probably null Het
Fhip2a A G 19: 57,359,661 (GRCm39) E67G probably damaging Het
Fign A G 2: 63,810,782 (GRCm39) Y163H probably damaging Het
Flnc G A 6: 29,455,812 (GRCm39) G2048S probably damaging Het
Fras1 A G 5: 96,736,022 (GRCm39) D539G probably benign Het
Frmd4b T C 6: 97,436,220 (GRCm39) probably benign Het
Gan C T 8: 117,920,970 (GRCm39) T402M probably damaging Het
Ganc T A 2: 120,267,104 (GRCm39) silent Het
Ggt6 C A 11: 72,327,425 (GRCm39) R103S probably benign Het
Gli2 T C 1: 118,768,052 (GRCm39) D725G probably damaging Het
Gm15446 T A 5: 110,090,818 (GRCm39) C357S probably damaging Het
Gm44501 A G 17: 40,889,810 (GRCm39) N108S probably benign Het
Gm6309 A T 5: 146,105,054 (GRCm39) D286E probably damaging Het
Gm6358 G A 16: 88,937,848 (GRCm39) G29E unknown Het
Grik5 A G 7: 24,757,713 (GRCm39) I422T probably damaging Het
Grin2c A G 11: 115,140,422 (GRCm39) I1232T possibly damaging Het
Gsg1 C T 6: 135,214,405 (GRCm39) R365H possibly damaging Het
H2-M2 A G 17: 37,794,135 (GRCm39) S30P possibly damaging Het
Hcfc2 A G 10: 82,547,914 (GRCm39) D302G probably damaging Het
Hk2 T C 6: 82,721,955 (GRCm39) D128G probably benign Het
Hmcn2 C A 2: 31,273,787 (GRCm39) Q1380K probably benign Het
Hsp90b1 G T 10: 86,529,819 (GRCm39) P617T probably damaging Het
Htr1d A G 4: 136,170,197 (GRCm39) E142G probably benign Het
Hydin G A 8: 111,282,264 (GRCm39) probably null Het
Il1r1 T A 1: 40,332,455 (GRCm39) N81K probably benign Het
Inpp5b T C 4: 124,677,760 (GRCm39) S407P probably damaging Het
Itpkb T C 1: 180,245,780 (GRCm39) Y766H probably damaging Het
Lyrm2 T A 4: 32,801,150 (GRCm39) I65N probably damaging Het
Mink1 T A 11: 70,500,086 (GRCm39) probably null Het
Mkrn3 C T 7: 62,069,452 (GRCm39) R113H probably damaging Het
Msx3 G A 7: 139,627,798 (GRCm39) A157V probably damaging Het
Nrxn2 T G 19: 6,548,484 (GRCm39) V59G possibly damaging Het
Nt5c3b T C 11: 100,331,732 (GRCm39) T12A probably benign Het
Nwd2 G A 5: 63,965,594 (GRCm39) R1726Q probably benign Het
Nynrin A G 14: 56,107,625 (GRCm39) T911A probably benign Het
Or11i1 T A 3: 106,728,996 (GRCm39) Y293F probably damaging Het
Or4p18 T C 2: 88,233,267 (GRCm39) T4A probably benign Het
Or51aa5 A G 7: 103,167,030 (GRCm39) I187T possibly damaging Het
Or51af1 C T 7: 103,141,267 (GRCm39) V273M possibly damaging Het
Or52n20 C T 7: 104,320,200 (GRCm39) T97I probably benign Het
Or5p66 A G 7: 107,885,520 (GRCm39) M271T probably benign Het
Or6c212 A G 10: 129,558,792 (GRCm39) I207T probably benign Het
Patl1 G T 19: 11,899,869 (GRCm39) M220I probably benign Het
Pcnx2 A T 8: 126,554,780 (GRCm39) probably null Het
Pigr A T 1: 130,774,291 (GRCm39) T424S probably damaging Het
Pik3c2b T A 1: 132,994,787 (GRCm39) D250E probably benign Het
Ppa2 G A 3: 133,076,186 (GRCm39) E272K probably benign Het
Pramel7 G A 2: 87,321,187 (GRCm39) Q283* probably null Het
Prelid3b A G 2: 174,307,683 (GRCm39) I81T probably benign Het
Prpf38a T C 4: 108,436,242 (GRCm39) I24V possibly damaging Het
Ptger2 A G 14: 45,239,295 (GRCm39) D311G possibly damaging Het
Rab4b A T 7: 26,872,191 (GRCm39) probably benign Het
Rad17 A C 13: 100,755,637 (GRCm39) D581E probably damaging Het
Samd11 T C 4: 156,333,230 (GRCm39) T333A probably benign Het
Scaf4 C T 16: 90,049,320 (GRCm39) D256N unknown Het
Serinc2 A G 4: 130,157,438 (GRCm39) F82L probably benign Het
Serpina3g T A 12: 104,205,372 (GRCm39) V37E probably damaging Het
Serpinb9c T A 13: 33,334,254 (GRCm39) M263L probably benign Het
Shbg A G 11: 69,508,326 (GRCm39) I67T possibly damaging Het
Slc25a48 G A 13: 56,596,887 (GRCm39) probably null Het
Slc25a54 T C 3: 109,005,923 (GRCm39) W144R probably damaging Het
Slc34a1 A T 13: 55,561,397 (GRCm39) T621S probably benign Het
Slc6a18 A T 13: 73,814,554 (GRCm39) C419S probably benign Het
Smc5 A T 19: 23,220,069 (GRCm39) D389E probably benign Het
Smco3 T A 6: 136,808,636 (GRCm39) E79D probably damaging Het
Sox5 A G 6: 143,906,561 (GRCm39) F298S probably damaging Het
Sphkap A G 1: 83,256,838 (GRCm39) S304P probably benign Het
Tcea2 C T 2: 181,328,514 (GRCm39) T211I probably damaging Het
Tcf4 G T 18: 69,697,226 (GRCm39) S34I possibly damaging Het
Tlr4 C T 4: 66,759,435 (GRCm39) R743C probably damaging Het
Tmem183a T C 1: 134,288,620 (GRCm39) E67G probably damaging Het
Tpr C T 1: 150,317,947 (GRCm39) R2152C possibly damaging Het
Trbv15 T C 6: 41,118,358 (GRCm39) I38T probably benign Het
Treh G A 9: 44,592,849 (GRCm39) A125T probably damaging Het
Trio A T 15: 27,752,875 (GRCm39) probably null Het
Ttn A G 2: 76,782,293 (GRCm39) V981A probably damaging Het
Uap1l1 A G 2: 25,252,732 (GRCm39) L436P probably damaging Het
Uba7 A T 9: 107,854,115 (GRCm39) I182F possibly damaging Het
Unc13c A T 9: 73,600,620 (GRCm39) S1375T probably benign Het
Usp48 C CT 4: 137,360,680 (GRCm39) probably null Het
Utp20 A C 10: 88,652,780 (GRCm39) V378G possibly damaging Het
Vmn1r69 A T 7: 10,314,926 (GRCm39) probably benign Het
Vmn1r86 A T 7: 12,836,221 (GRCm39) H218Q probably damaging Het
Vmn2r121 T A X: 123,038,335 (GRCm39) I562L probably benign Het
Vmn2r45 A T 7: 8,486,472 (GRCm39) I272N probably damaging Het
Wdr90 A G 17: 26,078,424 (GRCm39) V320A probably benign Het
Wfikkn1 A G 17: 26,097,367 (GRCm39) V319A possibly damaging Het
Whamm A G 7: 81,221,122 (GRCm39) D18G probably benign Het
Wrn T A 8: 33,775,250 (GRCm39) I605F probably damaging Het
Zdhhc18 A G 4: 133,341,178 (GRCm39) F232L probably damaging Het
Zfp41 T C 15: 75,490,609 (GRCm39) I187T probably benign Het
Zfp418 A G 7: 7,185,561 (GRCm39) Y508C probably damaging Het
Zfp560 T G 9: 20,260,347 (GRCm39) I172L probably benign Het
Zfp943 A T 17: 22,211,391 (GRCm39) D159V probably benign Het
Zfp955a T C 17: 33,460,696 (GRCm39) I479V probably benign Het
Zfpm1 T A 8: 123,062,219 (GRCm39) V426D probably benign Het
Zic1 C T 9: 91,246,558 (GRCm39) M171I 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
R4454:Cdkn2d UTSW 9 21,202,185 (GRCm39) missense probably benign
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
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'- TCATAGAGTTGGCCCTGGTG -3'

Sequencing Primer
(F):5'- GAGCTGAAAAGCCATCCCCTC -3'
(R):5'- TGGCACCGCAGTCCCTAG -3'
Posted On 2015-11-11