Incidental Mutation 'R4627:Kidins220'
ID 348892
Institutional Source Beutler Lab
Gene Symbol Kidins220
Ensembl Gene ENSMUSG00000036333
Gene Name kinase D-interacting substrate 220
Synonyms C330002I19Rik, 3110039L19Rik
MMRRC Submission 041892-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4627 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 25024924-25113151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 25107041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1498 (T1498I)
Ref Sequence ENSEMBL: ENSMUSP00000152683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066652] [ENSMUST00000220459] [ENSMUST00000222941]
AlphaFold E9Q9B7
Predicted Effect probably benign
Transcript: ENSMUST00000066652
AA Change: T1528I

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000063999
Gene: ENSMUSG00000036333
AA Change: T1528I

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 possibly damaging
Transcript: ENSMUST00000220459
AA Change: T1407I

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221622
Predicted Effect probably benign
Transcript: ENSMUST00000222013
Predicted Effect probably benign
Transcript: ENSMUST00000222481
Predicted Effect possibly damaging
Transcript: ENSMUST00000222941
AA Change: T1498I

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a A T 12: 113,508,569 (GRCm39) D314V probably benign Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Adamtsl2 T A 2: 26,983,597 (GRCm39) L331Q probably damaging Het
Akr1c13 G T 13: 4,247,869 (GRCm39) V214F probably damaging Het
Aldoart1 T C 4: 72,770,680 (GRCm39) T43A probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ano7 T C 1: 93,302,907 (GRCm39) I15T probably benign Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
Aox3 A T 1: 58,164,194 (GRCm39) T155S probably damaging Het
Ap2a1 C T 7: 44,553,843 (GRCm39) V535M probably damaging Het
Apbb2 C T 5: 66,557,419 (GRCm39) probably null Het
Astn1 C A 1: 158,329,821 (GRCm39) H225Q possibly damaging Het
Atm A G 9: 53,367,806 (GRCm39) I2439T possibly damaging Het
Atp1b2 T A 11: 69,492,160 (GRCm39) I263F probably damaging Het
Ccdc184 A T 15: 98,066,638 (GRCm39) N148Y probably benign Het
Cdca7 TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA 2: 72,312,205 (GRCm39) probably benign Het
Cep192 C G 18: 67,945,440 (GRCm39) P180R probably benign Het
Cfap46 T C 7: 139,237,197 (GRCm39) Y571C probably damaging Het
Cfap46 A T 7: 139,260,843 (GRCm39) L85Q probably damaging Het
Chchd6 G A 6: 89,361,642 (GRCm39) L226F probably damaging Het
Cnot6l A G 5: 96,225,070 (GRCm39) V541A probably benign Het
Cobl T C 11: 12,201,093 (GRCm39) E1214G probably damaging Het
Cpsf2 G A 12: 101,956,154 (GRCm39) R319Q probably benign Het
Csdc2 T C 15: 81,833,324 (GRCm39) V107A probably benign Het
Csmd1 A G 8: 16,747,933 (GRCm39) W273R probably benign Het
Dnah2 T A 11: 69,356,202 (GRCm39) N2156I probably damaging Het
Dsp A G 13: 38,352,617 (GRCm39) Y165C probably benign Het
Exoc1 T C 5: 76,690,075 (GRCm39) V205A probably benign Het
Fam98c T C 7: 28,854,693 (GRCm39) T49A possibly damaging Het
Fbln2 G T 6: 91,236,749 (GRCm39) V755L probably damaging Het
Fhad1 A T 4: 141,623,779 (GRCm39) V1371D possibly damaging Het
Folh1 A T 7: 86,422,460 (GRCm39) M59K probably benign Het
Foxf2 A T 13: 31,810,871 (GRCm39) H270L probably benign Het
Gm14401 G A 2: 176,778,109 (GRCm39) R65H probably benign Het
Gpn1 C A 5: 31,655,737 (GRCm39) Y592* probably null Het
Hmcn1 T G 1: 150,471,645 (GRCm39) D4903A probably benign Het
Hnf1a T C 5: 115,093,930 (GRCm39) R220G probably damaging Het
Hoxd10 G A 2: 74,522,636 (GRCm39) A105T probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Klhl2 G T 8: 65,211,225 (GRCm39) Y274* probably null Het
Lmbrd1 A G 1: 24,745,080 (GRCm39) Y140C probably damaging Het
Mapk8ip3 G A 17: 25,122,267 (GRCm39) T706I probably benign Het
Mast4 A C 13: 103,470,529 (GRCm39) S58A possibly damaging Het
Mcm6 T C 1: 128,279,285 (GRCm39) D167G probably benign Het
Mmachc A T 4: 116,560,668 (GRCm39) S276T probably damaging Het
Nfat5 A T 8: 108,095,908 (GRCm39) Q1289L probably damaging Het
Nlrc4 G T 17: 74,753,623 (GRCm39) F253L probably damaging Het
Nr1i3 C A 1: 171,044,014 (GRCm39) A112E probably benign Het
Or10ac1 T A 6: 42,515,375 (GRCm39) T194S possibly damaging Het
Or13a17 T A 7: 140,271,291 (GRCm39) S158T probably benign Het
Or2b28 T C 13: 21,531,634 (GRCm39) F179L probably damaging Het
Or7g33 G T 9: 19,448,969 (GRCm39) Q86K possibly damaging Het
Orc5 G T 5: 22,753,003 (GRCm39) F10L probably benign Het
Pde10a A C 17: 9,200,484 (GRCm39) D779A probably damaging Het
Pde4b T C 4: 102,458,802 (GRCm39) L486S probably damaging Het
Pex2 A T 3: 5,626,341 (GRCm39) I156N probably damaging Het
Phtf2 C T 5: 20,978,738 (GRCm39) R63Q probably damaging Het
Prag1 A G 8: 36,570,446 (GRCm39) Y343C probably damaging Het
Prdm16 A T 4: 154,451,697 (GRCm39) Y170N probably damaging Het
Prpf6 A C 2: 181,243,267 (GRCm39) K5T probably damaging Het
Ptpn1 A G 2: 167,809,701 (GRCm39) K103R probably benign Het
Ralgapa2 A G 2: 146,203,373 (GRCm39) S1159P possibly damaging Het
Rapgef3 G T 15: 97,656,810 (GRCm39) D318E probably damaging Het
Ripk4 A T 16: 97,545,226 (GRCm39) S474T probably damaging Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Sec16a A G 2: 26,319,405 (GRCm39) V1491A probably damaging Het
Sec16a C T 2: 26,321,080 (GRCm39) probably null Het
Setd7 G T 3: 51,450,086 (GRCm39) N113K probably damaging Het
Shank2 C T 7: 143,965,161 (GRCm39) T1502M probably damaging Het
Skor1 A T 9: 63,052,758 (GRCm39) C376S probably damaging Het
Slc12a3 A T 8: 95,056,012 (GRCm39) L49F probably benign Het
Slc35d3 C T 10: 19,725,077 (GRCm39) V260M probably damaging Het
Slc46a1 T A 11: 78,357,715 (GRCm39) V256E probably benign Het
Slc6a1 T C 6: 114,285,067 (GRCm39) S127P probably benign Het
Syngr4 A G 7: 45,536,452 (GRCm39) L190P probably damaging Het
Tagap G A 17: 8,145,773 (GRCm39) probably null Het
Tamm41 A T 6: 115,011,963 (GRCm39) N89K probably benign Het
Tbc1d31 T A 15: 57,831,308 (GRCm39) M922K probably benign Het
Tbk1 T C 10: 121,403,985 (GRCm39) N254S possibly damaging Het
Tfec A G 6: 16,840,478 (GRCm39) S140P probably damaging Het
Tnrc18 T C 5: 142,725,883 (GRCm39) E1802G unknown Het
Tom1l2 C T 11: 60,133,533 (GRCm39) probably null Het
Tonsl T G 15: 76,521,424 (GRCm39) K323Q probably damaging Het
Tsnaxip1 A T 8: 106,568,039 (GRCm39) E268D probably damaging Het
Ttf1 C A 2: 28,955,172 (GRCm39) H179N possibly damaging Het
Ttn T C 2: 76,556,517 (GRCm39) S30163G probably damaging Het
Ube2c A G 2: 164,614,093 (GRCm39) N143S possibly damaging Het
Ugt1a10 G A 1: 88,146,112 (GRCm39) R519Q probably damaging Het
Utp25 T C 1: 192,790,003 (GRCm39) T719A probably benign Het
Vmn2r9 T C 5: 108,995,463 (GRCm39) Y395C probably damaging Het
Vwa8 G A 14: 79,341,137 (GRCm39) probably null Het
Zfp9 A G 6: 118,441,937 (GRCm39) Y242H probably damaging 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
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
R8313:Kidins220 UTSW 12 25,054,110 (GRCm39) missense probably damaging 1.00
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'- GGGGCTCCATTCATTCTAATCTAG -3'
(R):5'- TGTTCTGATAGGCTCGACGC -3'

Sequencing Primer
(F):5'- CATTCTAATCTAGAACAAGAAAGGGG -3'
(R):5'- CTGTGCTCTGGAGACTTAGCCAC -3'
Posted On 2015-10-08