Incidental Mutation 'R7560:Cdkn2d'
ID 585042
Institutional Source Beutler Lab
Gene Symbol Cdkn2d
Ensembl Gene ENSMUSG00000096472
Gene Name cyclin dependent kinase inhibitor 2D
Synonyms INK4d, p19, p19INK4d, INK4d
MMRRC Submission 045626-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R7560 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 21199759-21202553 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 21200540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 77 (P77H)
Ref Sequence ENSEMBL: ENSMUSP00000150701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038671] [ENSMUST00000086374] [ENSMUST00000184326] [ENSMUST00000213407] [ENSMUST00000215619]
AlphaFold Q60773
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 probably benign
Transcript: ENSMUST00000086374
SMART Domains Protein: ENSMUSP00000083561
Gene: ENSMUSG00000096472

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: 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
Predicted Effect probably damaging
Transcript: ENSMUST00000213407
AA Change: P77H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215619
AA Change: P77H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (100/100)
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,932,510 (GRCm39) D502G probably benign Het
Adrb1 T C 19: 56,711,120 (GRCm39) V106A probably damaging Het
Ahcyl2 G T 6: 29,886,139 (GRCm39) G352W probably damaging Het
Ahnak2 T G 12: 112,745,851 (GRCm39) D446A Het
Arhgap42 T C 9: 9,035,532 (GRCm39) D270G probably benign Het
Atp2a1 A G 7: 126,058,828 (GRCm39) V129A possibly damaging Het
B9d2 G A 7: 25,380,784 (GRCm39) probably benign Het
Bace1 A T 9: 45,767,437 (GRCm39) I207F possibly damaging Het
Blnk T A 19: 40,940,834 (GRCm39) I190F possibly damaging Het
Bmp7 C T 2: 172,781,757 (GRCm39) E36K possibly damaging Het
Brsk2 A G 7: 141,554,597 (GRCm39) E654G probably benign Het
Cacna2d3 T C 14: 28,780,378 (GRCm39) H661R probably benign Het
Cdh4 T C 2: 179,532,695 (GRCm39) V719A probably benign Het
Chd3 A G 11: 69,247,096 (GRCm39) V1024A probably damaging Het
Chsy1 T A 7: 65,820,992 (GRCm39) M409K possibly damaging Het
Chsy1 T C 7: 65,821,319 (GRCm39) L518P probably damaging Het
Cic G A 7: 24,972,278 (GRCm39) V670M probably damaging Het
Clock A T 5: 76,390,738 (GRCm39) probably null Het
Coro1a C A 7: 126,302,306 (GRCm39) V14L probably damaging Het
Ctcfl C A 2: 172,960,199 (GRCm39) C128F probably damaging Het
Cyb5b A G 8: 107,896,491 (GRCm39) T71A probably damaging Het
Cyp2c40 C G 19: 39,795,658 (GRCm39) V174L possibly damaging Het
D630045J12Rik T A 6: 38,173,562 (GRCm39) Q202L possibly damaging Het
Dgkz T C 2: 91,773,160 (GRCm39) probably benign Het
Dlgap2 T C 8: 14,872,697 (GRCm39) probably null Het
Dnah1 T C 14: 31,026,940 (GRCm39) I695V probably benign Het
Dst T A 1: 34,221,532 (GRCm39) S2445R possibly damaging Het
Elob T C 17: 24,043,950 (GRCm39) D83G probably benign Het
Elp4 T A 2: 105,624,933 (GRCm39) D320V probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Etfdh T C 3: 79,530,886 (GRCm39) Y45C probably damaging Het
Exph5 A G 9: 53,287,073 (GRCm39) I1385V probably benign Het
Fat3 A T 9: 15,908,138 (GRCm39) D2621E probably damaging Het
Fbxl6 G T 15: 76,422,669 (GRCm39) A83D probably benign Het
Fmo2 A G 1: 162,716,318 (GRCm39) Y90H probably damaging Het
Fzd4 T A 7: 89,056,761 (GRCm39) Y269* probably null Het
Grik5 T A 7: 24,757,951 (GRCm39) I377F probably damaging Het
Havcr2 C A 11: 46,349,889 (GRCm39) P137Q probably damaging Het
Hectd4 A G 5: 121,392,405 (GRCm39) N223S possibly damaging Het
Hmcn2 A G 2: 31,347,185 (GRCm39) S4792G probably benign Het
Hps3 T G 3: 20,084,616 (GRCm39) I191L probably benign Het
Ica1l T A 1: 60,049,369 (GRCm39) K195* probably null Het
Idh2 TCCCAGGGCC TCC 7: 79,748,079 (GRCm39) probably null Het
Ift140 A G 17: 25,311,315 (GRCm39) D1170G probably benign Het
Igflr1 T C 7: 30,266,776 (GRCm39) F208S possibly damaging Het
Kcnma1 T C 14: 23,580,310 (GRCm39) T313A probably benign Het
Krt6a T A 15: 101,598,994 (GRCm39) I524F unknown Het
Lce1d G T 3: 92,593,148 (GRCm39) H88Q unknown Het
Lrmda A G 14: 22,878,770 (GRCm39) E177G probably benign Het
Lrrn3 T A 12: 41,502,712 (GRCm39) N535I possibly damaging Het
Map2k4 T A 11: 65,666,583 (GRCm39) I40L unknown Het
Map7d1 A G 4: 126,130,429 (GRCm39) L459P probably damaging Het
Mipol1 A T 12: 57,352,859 (GRCm39) N66I possibly damaging Het
Mycn A C 12: 12,990,292 (GRCm39) F35V probably benign Het
Mzt2 A C 16: 15,680,669 (GRCm39) M40R possibly damaging Het
N4bp2 T G 5: 65,948,458 (GRCm39) L363V probably damaging Het
Nfat5 T A 8: 108,097,221 (GRCm39) M1532K probably benign Het
Notch1 G A 2: 26,350,177 (GRCm39) T2321M probably benign Het
Nr1h4 T C 10: 89,334,123 (GRCm39) D89G probably benign Het
Nsun4 G A 4: 115,908,691 (GRCm39) T623I possibly damaging Het
Nup155 T C 15: 8,184,531 (GRCm39) S1309P probably benign Het
Or4e1 T C 14: 52,700,851 (GRCm39) N205S probably damaging Het
Or51f5 T C 7: 102,430,889 (GRCm39) S69P probably damaging Het
Or8h10 T C 2: 86,809,122 (GRCm39) Y6C probably benign Het
Pcsk5 A G 19: 17,814,336 (GRCm39) F61L probably benign Het
Phrf1 A T 7: 140,811,138 (GRCm39) probably null Het
Pkd1 G A 17: 24,792,605 (GRCm39) E1431K probably benign Het
Pkd2 T A 5: 104,628,219 (GRCm39) I431N probably damaging Het
Plcb2 A G 2: 118,546,124 (GRCm39) L557P probably damaging Het
Poteg A G 8: 27,984,988 (GRCm39) N449S probably benign Het
Ppargc1b C A 18: 61,445,281 (GRCm39) G192W probably damaging Het
Rab13 T C 3: 90,132,206 (GRCm39) S178P probably benign Het
Ralgds A G 2: 28,437,607 (GRCm39) D571G probably damaging Het
Ror2 A G 13: 53,264,849 (GRCm39) S748P probably benign Het
Sart1 A T 19: 5,434,905 (GRCm39) L167Q probably damaging Het
Septin12 A G 16: 4,810,055 (GRCm39) V160A possibly damaging Het
Sgo1 T C 17: 53,986,295 (GRCm39) S299G probably benign Het
Shoc1 T C 4: 59,076,140 (GRCm39) N601S possibly damaging Het
Slc35b4 T A 6: 34,140,296 (GRCm39) D152V probably benign Het
Spata31h1 T C 10: 82,120,449 (GRCm39) Y4187C probably damaging Het
Specc1 T A 11: 62,019,235 (GRCm39) probably null Het
Synj1 G A 16: 90,737,371 (GRCm39) T1308I probably benign Het
Thap12 T G 7: 98,359,438 (GRCm39) L106V probably damaging Het
Togaram1 T C 12: 65,057,916 (GRCm39) M1501T possibly damaging Het
Top2a G T 11: 98,891,663 (GRCm39) N1153K probably benign Het
Trpm5 A G 7: 142,634,723 (GRCm39) L658P probably damaging Het
Ttc21b G A 2: 66,047,548 (GRCm39) A849V possibly damaging Het
Vcf1 C T 11: 113,554,215 (GRCm39) G160D probably damaging Het
Vmn1r80 A T 7: 11,927,750 (GRCm39) I287F probably damaging Het
Vmn1r87 T C 7: 12,865,745 (GRCm39) S181G probably damaging Het
Vmn2r71 A T 7: 85,273,115 (GRCm39) H643L probably benign Het
Washc5 G A 15: 59,238,041 (GRCm39) R228C probably damaging Het
Wdr72 T C 9: 74,117,408 (GRCm39) S719P probably damaging Het
Xrcc3 G T 12: 111,774,336 (GRCm39) D164E probably benign Het
Zc2hc1b G A 10: 13,044,529 (GRCm39) R45C probably damaging Het
Zfp335 A G 2: 164,737,912 (GRCm39) Y900H probably damaging Het
Zfp512b G A 2: 181,228,875 (GRCm39) R697C probably damaging Het
Zfp60 T C 7: 27,448,561 (GRCm39) Y410H probably damaging Het
Zfp60 T A 7: 27,448,696 (GRCm39) C455S probably damaging Het
Zfp605 C T 5: 110,275,157 (GRCm39) Q92* probably null Het
Zfp64 C T 2: 168,767,585 (GRCm39) D676N probably 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
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
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'- TGTCCATGAGGTTCTGAGCC -3'
(R):5'- CTCTGGATTTGTGGTAGACCTC -3'

Sequencing Primer
(F):5'- ATGAGGTTCTGAGCCCCTCTC -3'
(R):5'- GTGGTAGACCTCTTTATTCTACCTG -3'
Posted On 2019-10-17