Incidental Mutation 'R9526:Kidins220'
ID 719262
Institutional Source Beutler Lab
Gene Symbol Kidins220
Ensembl Gene ENSMUSG00000036333
Gene Name kinase D-interacting substrate 220
Synonyms C330002I19Rik, 3110039L19Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9526 (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 G at 25088383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 1042 (L1042R)
Ref Sequence ENSEMBL: ENSMUSP00000152726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066652] [ENSMUST00000220459] [ENSMUST00000222941]
AlphaFold E9Q9B7
Predicted Effect probably damaging
Transcript: ENSMUST00000066652
AA Change: L1084R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063999
Gene: ENSMUSG00000036333
AA Change: L1084R

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: L1042R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000222941
AA Change: L1084R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,230,393 (GRCm39) L287S probably damaging Het
Adgrf1 A T 17: 43,616,237 (GRCm39) Q292L possibly damaging Het
Arhgap32 A G 9: 32,172,026 (GRCm39) D1602G probably benign Het
Atrnl1 C T 19: 57,617,551 (GRCm39) P109S probably damaging Het
Camsap1 G A 2: 25,843,962 (GRCm39) H230Y probably benign Het
Capns1 C T 7: 29,891,612 (GRCm39) C144Y probably damaging Het
Ccdc17 G A 4: 116,455,994 (GRCm39) V341I possibly damaging Het
Cd36 T C 5: 18,002,033 (GRCm39) T323A probably damaging Het
Cdc14a CGCTGCTGCTGCTGCTGCTG CGCTGCTGCTGCTGCTG 3: 116,087,509 (GRCm39) probably benign Het
Ckap2l G A 2: 129,111,161 (GRCm39) Q679* probably null Het
Clec4g T A 8: 3,768,565 (GRCm39) N93I probably benign Het
Cntnap2 T A 6: 45,992,165 (GRCm39) L364Q probably damaging Het
Cul9 A G 17: 46,841,026 (GRCm39) M748T probably benign Het
Dnah11 A T 12: 118,150,711 (GRCm39) I349N probably damaging Het
Dnajc14 T A 10: 128,642,260 (GRCm39) Y61N probably benign Het
Dock6 A T 9: 21,713,802 (GRCm39) Y1909* probably null Het
Dock8 T A 19: 25,165,739 (GRCm39) D1874E probably benign Het
Dpm1 A G 2: 168,072,210 (GRCm39) S22P probably benign Het
Dysf T C 6: 84,128,885 (GRCm39) L1385P probably damaging Het
Egf T C 3: 129,491,421 (GRCm39) T859A probably benign Het
Eif2b1 A T 5: 124,711,867 (GRCm39) S162T probably benign Het
Emilin1 T C 5: 31,075,484 (GRCm39) L575P probably damaging Het
Erp27 T A 6: 136,886,550 (GRCm39) Q161L probably benign Het
Fbxw10 C A 11: 62,765,945 (GRCm39) D738E possibly damaging Het
Fcgbp T G 7: 27,790,937 (GRCm39) C733G probably damaging Het
Fgb T A 3: 82,957,122 (GRCm39) probably benign Het
Gata3os A T 2: 9,887,634 (GRCm39) T12S unknown Het
Got1l1 G T 8: 27,688,503 (GRCm39) Q283K probably benign Het
Grk2 G A 19: 4,340,871 (GRCm39) R226C probably damaging Het
Hoxa10 T C 6: 52,211,334 (GRCm39) D194G probably benign Het
Ipcef1 G A 10: 6,840,620 (GRCm39) T363I probably damaging Het
Itga10 C A 3: 96,564,273 (GRCm39) T922N probably damaging Het
Itgad T C 7: 127,777,552 (GRCm39) I144T probably benign Het
Kat6b C A 14: 21,567,564 (GRCm39) Q208K possibly damaging Het
Kmt2c T C 5: 25,486,355 (GRCm39) S4733G probably damaging Het
Lrig3 A G 10: 125,850,736 (GRCm39) I1101V probably benign Het
Lrp1 T A 10: 127,431,229 (GRCm39) N311I probably damaging Het
Man2a1 A T 17: 64,958,310 (GRCm39) K275I probably benign Het
Map3k10 T A 7: 27,364,434 (GRCm39) N318I probably damaging Het
Map3k8 G A 18: 4,333,869 (GRCm39) R408W probably damaging Het
Mast1 A G 8: 85,647,805 (GRCm39) M523T probably damaging Het
Mast4 T C 13: 102,873,593 (GRCm39) H1925R probably benign Het
Med12l C T 3: 58,984,207 (GRCm39) S461L probably damaging Het
Mfap1a T C 2: 121,333,237 (GRCm39) K65E probably damaging Het
Mical1 T C 10: 41,358,602 (GRCm39) S507P probably benign Het
Miga2 T C 2: 30,268,400 (GRCm39) V433A unknown Het
Mpdz T C 4: 81,274,653 (GRCm39) T848A probably benign Het
Mycn A G 12: 12,989,778 (GRCm39) V206A probably benign Het
Ndst1 G A 18: 60,838,220 (GRCm39) Q342* probably null Het
Nectin1 A G 9: 43,702,369 (GRCm39) M39V probably benign Het
Nectin4 A T 1: 171,210,209 (GRCm39) R234* probably null Het
Ngb C G 12: 87,145,317 (GRCm39) V113L possibly damaging Het
Nphp3 T A 9: 103,913,337 (GRCm39) Y990N probably damaging Het
Nrdc T C 4: 108,915,833 (GRCm39) probably null Het
Or10a2 A T 7: 106,673,739 (GRCm39) K235* probably null Het
Or1e23 T A 11: 73,407,351 (GRCm39) I225F probably damaging Het
Or5p60 T A 7: 107,723,801 (GRCm39) Y223F probably benign Het
Osbpl6 A G 2: 76,415,603 (GRCm39) Y655C probably damaging Het
Pcdhgb4 A G 18: 37,855,882 (GRCm39) Q759R probably benign Het
Pcsk4 T C 10: 80,161,800 (GRCm39) D164G probably damaging Het
Pde4d T A 13: 110,071,915 (GRCm39) I303N probably damaging Het
Pdf T A 8: 107,774,972 (GRCm39) M87L probably benign Het
Pigb A G 9: 72,941,840 (GRCm39) S140P probably damaging Het
Plch1 T A 3: 63,758,549 (GRCm39) probably benign Het
Plxna1 G T 6: 89,319,633 (GRCm39) D557E probably benign Het
Polr2e C T 10: 79,872,792 (GRCm39) V149M probably benign Het
Polr3a A T 14: 24,503,313 (GRCm39) C1174S probably benign Het
Prb1c T A 6: 132,338,891 (GRCm39) N109I unknown Het
Psmd2 T A 16: 20,474,369 (GRCm39) S308R probably benign Het
Ptger1 T A 8: 84,396,002 (GRCm39) V353E probably damaging Het
Ptprc A G 1: 137,996,111 (GRCm39) M940T probably benign Het
Pus7l T C 15: 94,425,781 (GRCm39) N540S probably damaging Het
Rap1gds1 T A 3: 138,756,317 (GRCm39) I13L probably benign Het
Rasl10b A T 11: 83,303,590 (GRCm39) N49I probably damaging Het
Rftn1 A T 17: 50,301,237 (GRCm39) N537K probably benign Het
Rnase4 A G 14: 51,342,645 (GRCm39) Y123C probably damaging Het
Rnf181 A C 6: 72,338,302 (GRCm39) N26K probably benign Het
Rnf31 G A 14: 55,836,269 (GRCm39) probably null Het
Rpusd3 C G 6: 113,393,200 (GRCm39) C304S unknown Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Ryr3 C A 2: 112,664,270 (GRCm39) V1694L probably benign Het
Sanbr T C 11: 23,559,098 (GRCm39) Y372C probably damaging Het
Sephs2 T C 7: 126,872,346 (GRCm39) D249G probably damaging Het
Serpina10 A G 12: 103,583,217 (GRCm39) I409T probably damaging Het
Serpina5 C T 12: 104,069,403 (GRCm39) A205V probably damaging Het
Sfr1 T A 19: 47,723,453 (GRCm39) V319E probably damaging Het
Skil T A 3: 31,171,639 (GRCm39) Y542N probably benign Het
Slc15a5 T C 6: 138,049,954 (GRCm39) T154A probably benign Het
Slc27a2 T A 2: 126,429,846 (GRCm39) L618Q probably damaging Het
Slc6a6 A T 6: 91,726,808 (GRCm39) Y483F probably benign Het
Sprr1b T C 3: 92,344,443 (GRCm39) I144M probably benign Het
Stat5a T A 11: 100,771,161 (GRCm39) V580E Het
Tnk1 C T 11: 69,746,011 (GRCm39) D305N probably damaging Het
Tox2 A G 2: 163,164,930 (GRCm39) *523W probably null Het
Trav12-2 A G 14: 53,854,085 (GRCm39) N20D probably benign Het
Trav16 T A 14: 53,981,046 (GRCm39) N78K probably damaging Het
Trf C T 9: 103,104,130 (GRCm39) A78T probably damaging Het
Ttn A G 2: 76,711,543 (GRCm39) probably benign Het
Vmn2r67 T A 7: 84,785,834 (GRCm39) M724L probably benign Het
Vmn2r94 A T 17: 18,477,261 (GRCm39) F383L probably benign Het
Vwa2 T C 19: 56,895,208 (GRCm39) S461P probably benign Het
Zfp991 G A 4: 147,264,327 (GRCm39) G568E probably damaging Het
Zfpl1 A G 19: 6,134,440 (GRCm39) F15S 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
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
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
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'- CACTTAAAGCCTGTGGACTAGCG -3'
(R):5'- ACACTGTAAAGGCGAGGTGC -3'

Sequencing Primer
(F):5'- CCTGTGGACTAGCGAAGATTTCC -3'
(R):5'- CCGACTCTTACCCTGTTGTAGAAAGG -3'
Posted On 2022-07-18