Incidental Mutation 'R8313:Kidins220'
ID 641519
Institutional Source Beutler Lab
Gene Symbol Kidins220
Ensembl Gene ENSMUSG00000036333
Gene Name kinase D-interacting substrate 220
Synonyms C330002I19Rik, 3110039L19Rik
MMRRC Submission 067797-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8313 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 25024924-25113151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25054110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 537 (Y537N)
Ref Sequence ENSEMBL: ENSMUSP00000063999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066652] [ENSMUST00000220459] [ENSMUST00000222941]
AlphaFold E9Q9B7
Predicted Effect probably damaging
Transcript: ENSMUST00000066652
AA Change: Y537N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063999
Gene: ENSMUSG00000036333
AA Change: Y537N

DomainStartEndE-ValueType
ANK 37 66 1.11e-7 SMART
ANK 70 99 2.25e-3 SMART
ANK 103 132 4.78e-7 SMART
ANK 136 165 5.53e-3 SMART
ANK 169 198 2.52e-6 SMART
ANK 202 231 6.26e-2 SMART
ANK 235 264 1.22e-4 SMART
ANK 268 297 6.92e-4 SMART
ANK 301 330 1.57e-2 SMART
ANK 334 363 9.78e-4 SMART
ANK 367 398 4.6e0 SMART
Pfam:KAP_NTPase 440 953 1.2e-112 PFAM
low complexity region 1077 1092 N/A INTRINSIC
low complexity region 1096 1107 N/A INTRINSIC
low complexity region 1382 1396 N/A INTRINSIC
low complexity region 1422 1452 N/A INTRINSIC
low complexity region 1509 1520 N/A INTRINSIC
low complexity region 1544 1555 N/A INTRINSIC
low complexity region 1561 1567 N/A INTRINSIC
low complexity region 1596 1609 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000220459
AA Change: Y495N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221050
Predicted Effect unknown
Transcript: ENSMUST00000222013
AA Change: Y366N
Predicted Effect possibly damaging
Transcript: ENSMUST00000222941
AA Change: Y537N

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that is preferentially expressed in the nervous system where it controls neuronal cell survival, differentiation into exons and dendrites, and synaptic plasticity. The encoded protein interacts with membrane receptors, cytosolic signaling components, and cytoskeletal proteins, serving as a scaffold that mediates crosstalk between the neurotrophin pathway and several other intracellular signaling pathways. Aberrant expression of this gene is associated with the onset of various neuropsychiatric disorders and neurodegenerative diseases, including Alzheimer's disease. Naturally occurring mutations in this gene are associated with a syndrome characterized by spastic paraplegia, intellectual disability, nystagmus and obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for a knock-out allele exhibit decreased dendritic complexity in the barrel somatosensory cortex and dentate gyrus neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Atl2 C T 17: 80,160,033 (GRCm39) W518* probably null Het
Atp13a2 G A 4: 140,730,046 (GRCm39) V646I probably benign Het
Bcar1 A T 8: 112,440,270 (GRCm39) F575I probably benign Het
Bpifa6 T A 2: 153,831,178 (GRCm39) L248* probably null Het
Ccdc38 T C 10: 93,399,111 (GRCm39) L193P probably damaging Het
Ch25h A C 19: 34,452,138 (GRCm39) I130S probably benign Het
Chaf1a C A 17: 56,351,109 (GRCm39) Q30K unknown Het
Dab2ip T C 2: 35,617,440 (GRCm39) L1106S probably damaging Het
Dnah3 A G 7: 119,550,375 (GRCm39) Y3315H probably benign Het
Dnah7b G A 1: 46,214,456 (GRCm39) V1074I possibly damaging Het
Efemp1 A G 11: 28,860,691 (GRCm39) Q200R probably benign Het
Eif1ad3 A T 12: 87,843,764 (GRCm39) D137V unknown Het
Epx C T 11: 87,763,557 (GRCm39) R221Q possibly damaging Het
Exosc7 T C 9: 122,956,942 (GRCm39) L109P probably damaging Het
Fbxo22 T A 9: 55,128,344 (GRCm39) F222I probably damaging Het
Fcgbp A G 7: 27,785,769 (GRCm39) D402G probably benign Het
Foxr1 A G 9: 44,347,351 (GRCm39) V62A probably damaging Het
Gm8267 A T 14: 44,961,515 (GRCm39) H59Q probably damaging Het
Gnptab T A 10: 88,275,071 (GRCm39) Y1090N probably damaging Het
Gpr20 A G 15: 73,568,161 (GRCm39) F76S probably damaging Het
Gpr33 A G 12: 52,070,907 (GRCm39) V44A probably benign Het
Grin3a G A 4: 49,665,599 (GRCm39) T1012I probably benign Het
Itga1 T A 13: 115,103,120 (GRCm39) T1104S probably benign Het
Lama1 A G 17: 68,057,515 (GRCm39) T530A Het
Lysmd2 A T 9: 75,533,040 (GRCm39) probably benign Het
Mdk T C 2: 91,761,178 (GRCm39) K128E unknown Het
Mphosph8 AC A 14: 56,916,062 (GRCm39) probably null Het
Muc16 A C 9: 18,436,443 (GRCm39) L7915W possibly damaging Het
Muc4 A T 16: 32,753,423 (GRCm38) T1100S probably benign Het
Mxra7 T C 11: 116,695,376 (GRCm39) Y176C probably damaging Het
Myh15 C A 16: 48,940,381 (GRCm39) T777N probably damaging Het
Myo18b A G 5: 113,023,045 (GRCm39) S116P unknown Het
Noc3l A G 19: 38,784,254 (GRCm39) L543P probably damaging Het
Or5h24 C T 16: 58,919,004 (GRCm39) G117D unknown Het
Or7a39 C T 10: 78,715,170 (GRCm39) P55S probably benign Het
Or8c10 T A 9: 38,279,346 (GRCm39) V168E probably damaging Het
Pkm G T 9: 59,575,902 (GRCm39) R106L probably benign Het
Prkab2 G T 3: 97,570,911 (GRCm39) V112F probably benign Het
Prkaca A T 8: 84,717,151 (GRCm39) N172Y probably damaging Het
Prmt8 A G 6: 127,666,813 (GRCm39) V387A probably benign Het
Rad17 T C 13: 100,761,074 (GRCm39) T485A probably benign Het
Rita1 G T 5: 120,747,716 (GRCm39) T194K possibly damaging Het
Rogdi C A 16: 4,831,313 (GRCm39) probably benign Het
Senp5 T C 16: 31,808,117 (GRCm39) D379G probably benign Het
Slc4a4 A G 5: 89,194,122 (GRCm39) K201E possibly damaging Het
Slc9a4 C T 1: 40,619,520 (GRCm39) probably benign Het
Tmem175 T A 5: 108,791,075 (GRCm39) S208R probably benign Het
Tmem237 A T 1: 59,147,237 (GRCm39) Y299N probably damaging Het
Tnrc6a T A 7: 122,769,936 (GRCm39) N575K possibly damaging Het
Trak2 A T 1: 58,960,306 (GRCm39) C232* probably null Het
Ubr3 A G 2: 69,775,478 (GRCm39) H589R probably damaging Het
Vcp T C 4: 42,988,728 (GRCm39) T249A possibly damaging Het
Vmn1r208 G C 13: 22,956,947 (GRCm39) I183M probably benign Het
Vmn1r231 C T 17: 21,110,289 (GRCm39) V209I probably benign Het
Vmn1r80 T C 7: 11,926,994 (GRCm39) F35L probably benign Het
Vmn2r58 A T 7: 41,521,952 (GRCm39) I48N probably benign Het
Vstm2a T A 11: 16,231,898 (GRCm39) V231E probably damaging Het
Zfp108 A C 7: 23,960,087 (GRCm39) Y226S possibly damaging Het
Zfp445 A T 9: 122,682,695 (GRCm39) N415K possibly damaging Het
Zfp938 T G 10: 82,061,422 (GRCm39) R399S possibly damaging Het
Zmym4 G A 4: 126,804,762 (GRCm39) H464Y probably benign Het
Other mutations in Kidins220
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Kidins220 APN 12 25,088,559 (GRCm39) splice site probably benign
IGL00959:Kidins220 APN 12 25,101,132 (GRCm39) missense possibly damaging 0.74
IGL00978:Kidins220 APN 12 25,107,473 (GRCm39) missense probably damaging 1.00
IGL01144:Kidins220 APN 12 25,060,925 (GRCm39) missense probably damaging 1.00
IGL01326:Kidins220 APN 12 25,088,498 (GRCm39) missense probably damaging 0.97
IGL01545:Kidins220 APN 12 25,090,459 (GRCm39) missense possibly damaging 0.66
IGL01802:Kidins220 APN 12 25,044,999 (GRCm39) missense probably damaging 1.00
IGL01875:Kidins220 APN 12 25,107,728 (GRCm39) missense probably benign 0.00
IGL02160:Kidins220 APN 12 25,054,110 (GRCm39) missense probably damaging 1.00
IGL02383:Kidins220 APN 12 25,047,332 (GRCm39) splice site probably benign
IGL02673:Kidins220 APN 12 25,044,991 (GRCm39) missense probably damaging 1.00
IGL02800:Kidins220 APN 12 25,053,092 (GRCm39) missense probably damaging 1.00
IGL03345:Kidins220 APN 12 25,053,044 (GRCm39) missense probably damaging 1.00
IGL03379:Kidins220 APN 12 25,058,447 (GRCm39) missense probably damaging 0.99
IGL03412:Kidins220 APN 12 25,049,344 (GRCm39) missense probably damaging 1.00
P0043:Kidins220 UTSW 12 25,058,155 (GRCm39) missense probably damaging 1.00
R0011:Kidins220 UTSW 12 25,049,351 (GRCm39) missense probably damaging 0.99
R0011:Kidins220 UTSW 12 25,049,351 (GRCm39) missense probably damaging 0.99
R0269:Kidins220 UTSW 12 25,090,511 (GRCm39) missense probably damaging 0.98
R0280:Kidins220 UTSW 12 25,060,140 (GRCm39) missense probably damaging 1.00
R0334:Kidins220 UTSW 12 25,058,068 (GRCm39) missense probably damaging 1.00
R1601:Kidins220 UTSW 12 25,055,087 (GRCm39) missense probably benign 0.35
R1778:Kidins220 UTSW 12 25,063,445 (GRCm39) splice site probably benign
R1808:Kidins220 UTSW 12 25,053,008 (GRCm39) missense probably benign 0.00
R1855:Kidins220 UTSW 12 25,106,590 (GRCm39) missense probably damaging 1.00
R1965:Kidins220 UTSW 12 25,044,905 (GRCm39) missense probably damaging 1.00
R1982:Kidins220 UTSW 12 25,101,193 (GRCm39) missense probably benign 0.01
R2069:Kidins220 UTSW 12 25,037,005 (GRCm39) splice site probably benign
R2101:Kidins220 UTSW 12 25,107,422 (GRCm39) missense probably damaging 1.00
R2124:Kidins220 UTSW 12 25,091,302 (GRCm39) critical splice donor site probably null
R2371:Kidins220 UTSW 12 25,107,323 (GRCm39) missense probably damaging 1.00
R2405:Kidins220 UTSW 12 25,061,508 (GRCm39) missense probably damaging 0.99
R3522:Kidins220 UTSW 12 25,040,757 (GRCm39) missense probably damaging 1.00
R3877:Kidins220 UTSW 12 25,051,564 (GRCm39) splice site probably benign
R3915:Kidins220 UTSW 12 25,103,957 (GRCm39) missense possibly damaging 0.93
R4023:Kidins220 UTSW 12 25,107,143 (GRCm39) splice site probably null
R4287:Kidins220 UTSW 12 25,106,845 (GRCm39) missense possibly damaging 0.81
R4476:Kidins220 UTSW 12 25,061,000 (GRCm39) missense probably damaging 1.00
R4495:Kidins220 UTSW 12 25,088,301 (GRCm39) splice site probably null
R4627:Kidins220 UTSW 12 25,107,041 (GRCm39) missense possibly damaging 0.89
R4807:Kidins220 UTSW 12 25,107,284 (GRCm39) missense probably damaging 1.00
R4899:Kidins220 UTSW 12 25,063,442 (GRCm39) critical splice donor site probably null
R4960:Kidins220 UTSW 12 25,042,259 (GRCm39) nonsense probably null
R5118:Kidins220 UTSW 12 25,042,296 (GRCm39) missense probably damaging 1.00
R5183:Kidins220 UTSW 12 25,101,125 (GRCm39) missense probably benign 0.17
R5238:Kidins220 UTSW 12 25,053,009 (GRCm39) missense probably benign 0.31
R5580:Kidins220 UTSW 12 25,097,896 (GRCm39) missense probably benign 0.00
R5707:Kidins220 UTSW 12 25,063,390 (GRCm39) missense probably damaging 1.00
R5813:Kidins220 UTSW 12 25,107,139 (GRCm39) nonsense probably null
R6131:Kidins220 UTSW 12 25,042,313 (GRCm39) splice site probably null
R6146:Kidins220 UTSW 12 25,102,812 (GRCm39) missense probably damaging 1.00
R6151:Kidins220 UTSW 12 25,106,908 (GRCm39) missense possibly damaging 0.65
R6160:Kidins220 UTSW 12 25,047,310 (GRCm39) missense probably damaging 1.00
R6187:Kidins220 UTSW 12 25,101,307 (GRCm39) splice site probably null
R6289:Kidins220 UTSW 12 25,106,615 (GRCm39) missense probably damaging 1.00
R6321:Kidins220 UTSW 12 25,107,533 (GRCm39) missense probably benign 0.09
R6450:Kidins220 UTSW 12 25,107,190 (GRCm39) missense probably benign
R6513:Kidins220 UTSW 12 25,088,434 (GRCm39) missense possibly damaging 0.94
R6652:Kidins220 UTSW 12 25,060,059 (GRCm39) splice site probably null
R6711:Kidins220 UTSW 12 25,048,750 (GRCm39) missense probably damaging 0.96
R6858:Kidins220 UTSW 12 25,058,542 (GRCm39) missense possibly damaging 0.85
R7102:Kidins220 UTSW 12 25,107,662 (GRCm39) missense probably benign 0.00
R7112:Kidins220 UTSW 12 25,054,018 (GRCm39) missense probably damaging 1.00
R7139:Kidins220 UTSW 12 25,044,820 (GRCm39) missense probably damaging 1.00
R7140:Kidins220 UTSW 12 25,086,623 (GRCm39) missense probably damaging 1.00
R7271:Kidins220 UTSW 12 25,061,570 (GRCm39) missense probably benign 0.21
R7361:Kidins220 UTSW 12 25,106,999 (GRCm39) missense probably benign 0.01
R7509:Kidins220 UTSW 12 25,032,360 (GRCm39) missense probably damaging 0.98
R7510:Kidins220 UTSW 12 25,042,268 (GRCm39) missense possibly damaging 0.88
R7783:Kidins220 UTSW 12 25,038,555 (GRCm39) missense probably damaging 1.00
R7796:Kidins220 UTSW 12 25,032,350 (GRCm39) missense probably damaging 0.96
R7831:Kidins220 UTSW 12 25,111,230 (GRCm39) missense possibly damaging 0.90
R8074:Kidins220 UTSW 12 25,107,715 (GRCm39) missense probably benign 0.29
R8214:Kidins220 UTSW 12 25,044,854 (GRCm39) missense probably damaging 1.00
R8304:Kidins220 UTSW 12 25,107,127 (GRCm39) missense probably benign 0.01
R8346:Kidins220 UTSW 12 25,086,533 (GRCm39) missense probably damaging 1.00
R8392:Kidins220 UTSW 12 25,040,727 (GRCm39) missense probably damaging 1.00
R8482:Kidins220 UTSW 12 25,090,527 (GRCm39) missense probably benign 0.00
R8722:Kidins220 UTSW 12 25,051,593 (GRCm39) missense probably benign
R8831:Kidins220 UTSW 12 25,086,454 (GRCm39) missense possibly damaging 0.70
R8960:Kidins220 UTSW 12 25,106,914 (GRCm39) missense probably benign 0.05
R9193:Kidins220 UTSW 12 25,036,966 (GRCm39) missense possibly damaging 0.79
R9267:Kidins220 UTSW 12 25,038,558 (GRCm39) missense probably benign 0.29
R9303:Kidins220 UTSW 12 25,107,110 (GRCm39) missense probably benign 0.36
R9343:Kidins220 UTSW 12 25,058,078 (GRCm39) missense probably damaging 1.00
R9526:Kidins220 UTSW 12 25,088,383 (GRCm39) missense probably damaging 1.00
R9644:Kidins220 UTSW 12 25,061,018 (GRCm39) missense probably damaging 1.00
R9655:Kidins220 UTSW 12 25,047,295 (GRCm39) missense probably damaging 1.00
R9664:Kidins220 UTSW 12 25,106,895 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- TCAGATGAAATGAAGACGTTTGCAG -3'
(R):5'- AGGGATGTACACGGTTACTCTATAC -3'

Sequencing Primer
(F):5'- AGACGTTTGCAGGGCAGC -3'
(R):5'- GGTCCTGAGTTCAAATCCCAG -3'
Posted On 2020-07-28