Incidental Mutation 'R9267:Kidins220'
ID 702631
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 # R9267 (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 A at 25038558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 37 (S37T)
Ref Sequence ENSEMBL: ENSMUSP00000152726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066652] [ENSMUST00000220459] [ENSMUST00000222941]
AlphaFold E9Q9B7
Predicted Effect possibly damaging
Transcript: ENSMUST00000066652
AA Change: S79T

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000063999
Gene: ENSMUSG00000036333
AA Change: S79T

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: S37T

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000222013
Predicted Effect probably benign
Transcript: ENSMUST00000222941
AA Change: S79T

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (79/81)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 G T 14: 118,869,657 (GRCm39) probably benign Het
Abcd2 T A 15: 91,063,423 (GRCm39) T422S possibly damaging Het
Acsl3 T G 1: 78,674,623 (GRCm39) I390S probably damaging Het
Adad1 T A 3: 37,139,074 (GRCm39) probably benign Het
Adam3 A G 8: 25,171,605 (GRCm39) V742A probably benign Het
Adgra3 A T 5: 50,155,618 (GRCm39) I450K possibly damaging Het
Adgrb2 T C 4: 129,885,901 (GRCm39) S14P possibly damaging Het
Arfgef3 T A 10: 18,475,028 (GRCm39) I1553F probably damaging Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Ccdc27 A G 4: 154,117,441 (GRCm39) L502P probably damaging Het
Ccdc50 T A 16: 27,208,700 (GRCm39) L5Q Het
Cdh16 C T 8: 105,341,834 (GRCm39) G777D probably damaging Het
Cntn2 C A 1: 132,449,021 (GRCm39) V663L probably benign Het
Cpne4 T A 9: 104,884,833 (GRCm39) V343E probably damaging Het
Dctpp1 A T 7: 126,856,275 (GRCm39) I149N probably benign Het
Dlg5 T C 14: 24,204,745 (GRCm39) N1266S probably damaging Het
Dst A G 1: 34,232,145 (GRCm39) D3246G probably benign Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Erbin T C 13: 103,987,292 (GRCm39) T423A probably damaging Het
Erich5 C T 15: 34,471,563 (GRCm39) P264L possibly damaging Het
Fam90a1a A G 8: 22,453,091 (GRCm39) M149V probably benign Het
Fbxl18 C T 5: 142,880,870 (GRCm39) G62R possibly damaging Het
Fech A G 18: 64,591,267 (GRCm39) S386P possibly damaging Het
Fhl3 T A 4: 124,601,498 (GRCm39) probably null Het
Fkbp5 A G 17: 28,629,558 (GRCm39) S256P probably benign Het
Frem2 A G 3: 53,564,504 (GRCm39) M1T probably null Het
Galnt5 T C 2: 57,925,220 (GRCm39) F834L possibly damaging Het
Gm3618 G T 14: 17,502,588 (GRCm39) T99N unknown Het
Gm9195 T A 14: 72,700,546 (GRCm39) Q1127L possibly damaging Het
Gpsm1 A G 2: 26,236,835 (GRCm39) D643G probably damaging Het
Grm4 A G 17: 27,654,183 (GRCm39) V589A possibly damaging Het
Gskip T A 12: 105,665,052 (GRCm39) F30L probably benign Het
Haus3 T A 5: 34,311,452 (GRCm39) probably null Het
Heatr1 T C 13: 12,421,489 (GRCm39) F463S probably damaging Het
Hmcn1 G A 1: 150,473,740 (GRCm39) S4851F probably benign Het
Il16 A C 7: 83,371,757 (GRCm39) F16L probably benign Het
Itga1 C A 13: 115,185,924 (GRCm39) C26F possibly damaging Het
Itga6 A G 2: 71,668,756 (GRCm39) E565G probably benign Het
Itgb4 A G 11: 115,870,465 (GRCm39) H98R probably benign Het
Lrrc37 A T 11: 103,495,406 (GRCm39) D2804E unknown Het
Lrrk2 C T 15: 91,584,629 (GRCm39) L349F probably damaging Het
Malrd1 T G 2: 16,260,077 (GRCm39) I2099S unknown Het
Mapk8ip1 A G 2: 92,216,714 (GRCm39) I492T possibly damaging Het
Mest T A 6: 30,742,141 (GRCm39) D68E Het
Mthfd1l A G 10: 3,934,154 (GRCm39) D162G probably benign Het
Nalcn A T 14: 123,518,567 (GRCm39) D1657E probably benign Het
Nbeal2 C A 9: 110,462,115 (GRCm39) V1475F probably damaging Het
Nf1 C A 11: 79,331,716 (GRCm39) Q684K possibly damaging Het
Opn5 T A 17: 42,903,793 (GRCm39) T181S probably damaging Het
Or10ag54 T C 2: 87,099,326 (GRCm39) L67P possibly damaging Het
Or1j19 A T 2: 36,676,530 (GRCm39) probably benign Het
Or7a38 A G 10: 78,752,803 (GRCm39) N43S probably damaging Het
Or9s15 A T 1: 92,524,994 (GRCm39) H251L probably damaging Het
Or9s15 A T 1: 92,524,996 (GRCm39) M252L probably benign Het
Orc4 T A 2: 48,827,534 (GRCm39) R20* probably null Het
Pik3ca T C 3: 32,492,211 (GRCm39) Y270H probably damaging Het
Pkn2 T C 3: 142,517,676 (GRCm39) E474G probably null Het
Pnma8b A T 7: 16,679,159 (GRCm39) N48Y unknown Het
Pnpla2 A C 7: 141,036,503 (GRCm39) probably benign Het
Polr1a G A 6: 71,942,542 (GRCm39) M1127I probably benign Het
Ptpre A C 7: 135,274,549 (GRCm39) D507A probably damaging Het
Rab3gap2 T C 1: 184,983,331 (GRCm39) V490A probably damaging Het
Rab44 A T 17: 29,354,338 (GRCm39) probably benign Het
Rchy1 G T 5: 92,105,831 (GRCm39) T39N probably benign Het
Ripor1 A G 8: 106,348,063 (GRCm39) D1146G unknown Het
Sh3yl1 A T 12: 30,972,335 (GRCm39) I35F possibly damaging Het
Slc22a5 A G 11: 53,764,619 (GRCm39) F276L probably benign Het
Slc8a3 T A 12: 81,361,208 (GRCm39) D537V possibly damaging Het
Smc4 T A 3: 68,941,786 (GRCm39) I1263N probably damaging Het
Snai2 A T 16: 14,525,120 (GRCm39) T209S possibly damaging Het
Stam2 A T 2: 52,604,903 (GRCm39) Y211N probably damaging Het
Stxbp1 A G 2: 32,708,517 (GRCm39) S83P probably damaging Het
Susd4 T C 1: 182,716,389 (GRCm39) F325L probably benign Het
Tmem245 A G 4: 56,947,236 (GRCm39) V59A probably benign Het
Tnk2 A G 16: 32,494,489 (GRCm39) D469G probably damaging Het
Tpx2 A G 2: 152,732,517 (GRCm39) D597G probably damaging Het
Ube2w A T 1: 16,612,011 (GRCm39) S170R Het
Vmn2r102 A T 17: 19,896,928 (GRCm39) I92F probably damaging Het
Vmn2r11 T A 5: 109,199,929 (GRCm39) E508V possibly damaging Het
Vmn2r30 T A 7: 7,340,432 (GRCm39) I21F possibly damaging Het
Yipf2 G A 9: 21,501,489 (GRCm39) T187M possibly damaging Het
Zbtb8a T A 4: 129,248,267 (GRCm39) K335* probably null Het
Zfp609 T C 9: 65,608,328 (GRCm39) D1184G 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
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
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'- AACATCTTAAGGCAGCTTCCG -3'
(R):5'- GGAGACACTGTAACACCAGC -3'

Sequencing Primer
(F):5'- CCGCTTTATTCCACAGAGGTTAGAG -3'
(R):5'- CCAAGTCATAAAAGAGCCTGTC -3'
Posted On 2022-03-25