Incidental Mutation 'R8960:Kidins220'
ID 682303
Institutional Source Beutler Lab
Gene Symbol Kidins220
Ensembl Gene ENSMUSG00000036333
Gene Name kinase D-interacting substrate 220
Synonyms C330002I19Rik, 3110039L19Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8960 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 25024924-25113151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25106914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1365 (S1365P)
Ref Sequence ENSEMBL: ENSMUSP00000152726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066652] [ENSMUST00000220459] [ENSMUST00000222941]
AlphaFold E9Q9B7
Predicted Effect probably benign
Transcript: ENSMUST00000066652
AA Change: S1486P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000063999
Gene: ENSMUSG00000036333
AA Change: S1486P

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 benign
Transcript: ENSMUST00000220459
AA Change: S1365P

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000222013
Predicted Effect probably benign
Transcript: ENSMUST00000222481
Predicted Effect probably benign
Transcript: ENSMUST00000222941
AA Change: S1456P

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 100% (78/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 G A 9: 44,186,063 (GRCm39) Q603* probably null Het
Adar A G 3: 89,647,516 (GRCm39) Y165C probably damaging Het
Afp A G 5: 90,651,500 (GRCm39) T372A probably benign Het
Asah1 T A 8: 41,800,061 (GRCm39) L184F probably damaging Het
Bltp1 A G 3: 37,067,132 (GRCm39) E3548G probably damaging Het
Bpifb2 A T 2: 153,731,046 (GRCm39) I206F possibly damaging Het
Btn1a1 C A 13: 23,648,741 (GRCm39) D31Y possibly damaging Het
C4b T A 17: 34,952,892 (GRCm39) D1110V probably damaging Het
Ccdc162 T A 10: 41,429,178 (GRCm39) D1901V probably damaging Het
Cd101 A G 3: 100,910,817 (GRCm39) V947A probably benign Het
Cd55b A T 1: 130,338,375 (GRCm39) S238T possibly damaging Het
Cdc25c T C 18: 34,866,329 (GRCm39) I437V possibly damaging Het
Cfap97 T C 8: 46,623,605 (GRCm39) S332P probably damaging Het
Chpf A G 1: 75,452,398 (GRCm39) L352P probably damaging Het
Cntln T A 4: 85,018,961 (GRCm39) M1217K possibly damaging Het
Cntrl A G 2: 35,052,053 (GRCm39) E1629G possibly damaging Het
Csnk1g2 T C 10: 80,474,396 (GRCm39) Y206H probably damaging Het
Cyp2c55 T A 19: 38,995,547 (GRCm39) W20R probably null Het
Dhx35 A T 2: 158,657,393 (GRCm39) H130L possibly damaging Het
Dnm1 A G 2: 32,202,741 (GRCm39) V54A probably damaging Het
Eea1 T A 10: 95,864,381 (GRCm39) S967T probably benign Het
Efcab3 A G 11: 104,820,772 (GRCm39) probably benign Het
Elf3 A T 1: 135,182,813 (GRCm39) I304N probably damaging Het
Eps8l1 G T 7: 4,481,214 (GRCm39) R672L probably damaging Het
Fam163a A T 1: 155,954,862 (GRCm39) C96* probably null Het
Fancd2 T C 6: 113,540,129 (GRCm39) probably null Het
Fbxo3 C T 2: 103,858,274 (GRCm39) L23F possibly damaging Het
Fbxw14 A G 9: 109,114,367 (GRCm39) V121A possibly damaging Het
Fgd6 T A 10: 93,880,868 (GRCm39) V574D probably benign Het
Gask1b T C 3: 79,794,293 (GRCm39) S254P probably benign Het
Gbp11 A G 5: 105,479,251 (GRCm39) F124S probably damaging Het
Grin1 A T 2: 25,195,428 (GRCm39) probably benign Het
Grm2 T G 9: 106,531,345 (GRCm39) E48A probably benign Het
H2-M10.5 T A 17: 37,084,770 (GRCm39) Y165N probably benign Het
Hoxa13 A C 6: 52,236,976 (GRCm39) S172A probably benign Het
Ifih1 T A 2: 62,442,235 (GRCm39) K376N possibly damaging Het
Insrr C A 3: 87,720,386 (GRCm39) T1008K probably damaging Het
Itih1 A G 14: 30,655,414 (GRCm39) S594P probably damaging Het
Malrd1 A T 2: 15,570,241 (GRCm39) K158* probably null Het
Man2c1 G A 9: 57,045,279 (GRCm39) G504R probably damaging Het
Mbd1 T C 18: 74,406,890 (GRCm39) probably null Het
Micall2 G A 5: 139,702,025 (GRCm39) A323V probably benign Het
Mroh9 A C 1: 162,883,196 (GRCm39) F428V probably benign Het
Myo7b T A 18: 32,127,299 (GRCm39) probably benign Het
Niban1 A T 1: 151,591,463 (GRCm39) H535L possibly damaging Het
Obscn A T 11: 58,922,438 (GRCm39) V6567E probably damaging Het
Or1e28-ps1 A C 11: 73,615,230 (GRCm39) S207A unknown Het
Or1e33 A T 11: 73,738,167 (GRCm39) C261* probably null Het
Or2g25 T A 17: 37,970,760 (GRCm39) T155S probably benign Het
Or2y1d A T 11: 49,321,543 (GRCm39) Q80L probably benign Het
Or5h25 T A 16: 58,930,555 (GRCm39) R139S probably benign Het
Or8b53 A T 9: 38,667,385 (GRCm39) I134F possibly damaging Het
Pde4dip T C 3: 97,700,464 (GRCm39) D238G probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Pgbd5 T A 8: 125,111,175 (GRCm39) Y172F probably benign Het
Pkd1 A G 17: 24,795,176 (GRCm39) T2288A probably damaging Het
Ppp6r2 T A 15: 89,137,239 (GRCm39) M1K probably null Het
Rc3h1 A G 1: 160,774,164 (GRCm39) T344A probably damaging Het
Rgs5 T C 1: 169,504,461 (GRCm39) V37A possibly damaging Het
Rgs9 A G 11: 109,139,815 (GRCm39) S17P possibly damaging Het
Rusc1 T A 3: 88,991,865 (GRCm39) D407V probably damaging Het
Rwdd1 T A 10: 33,895,383 (GRCm39) I18F possibly damaging Het
Satb2 C T 1: 56,910,470 (GRCm39) probably null Het
Sds A G 5: 120,621,659 (GRCm39) E267G probably damaging Het
Sema4b T A 7: 79,875,076 (GRCm39) V822E probably damaging Het
Sfxn5 A T 6: 85,266,176 (GRCm39) M107K probably damaging Het
Slc5a8 C T 10: 88,722,035 (GRCm39) probably benign Het
Sorbs1 T C 19: 40,387,048 (GRCm39) D6G probably damaging Het
Syt14 A C 1: 192,666,515 (GRCm39) probably benign Het
Vmn2r124 T G 17: 18,283,291 (GRCm39) Y328* probably null Het
Vmn2r86 T A 10: 130,289,672 (GRCm39) E74D probably benign Het
Vmo1 A C 11: 70,404,476 (GRCm39) L175W probably damaging Het
Vps13a G T 19: 16,683,247 (GRCm39) L982I possibly damaging Het
Wdr19 T C 5: 65,398,211 (GRCm39) V812A probably benign Het
Wdr27 T C 17: 15,103,908 (GRCm39) I733V probably benign Het
Wdr54 A T 6: 83,132,739 (GRCm39) H38Q probably damaging Het
Wdr76 G A 2: 121,341,104 (GRCm39) V50I probably damaging Het
Zfp930 T A 8: 69,680,541 (GRCm39) N59K probably damaging Het
Zfyve9 T C 4: 108,501,558 (GRCm39) N1218S possibly 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
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'- ACATTGCTCAGATGTCCCAG -3'
(R):5'- TCATCACTGGGCAGTTTCTGG -3'

Sequencing Primer
(F):5'- TGCTCAGATGTCCCAGTTAGAAG -3'
(R):5'- AGTTTCTGGTAGCGCAGACCAC -3'
Posted On 2021-08-31