Incidental Mutation 'R1982:Kidins220'
ID 219997
Institutional Source Beutler Lab
Gene Symbol Kidins220
Ensembl Gene ENSMUSG00000036333
Gene Name kinase D-interacting substrate 220
Synonyms C330002I19Rik, 3110039L19Rik
MMRRC Submission 039994-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1982 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 25024924-25113151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25101193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1252 (M1252L)
Ref Sequence ENSEMBL: ENSMUSP00000063999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066652] [ENSMUST00000220459] [ENSMUST00000222941]
AlphaFold E9Q9B7
Predicted Effect probably benign
Transcript: ENSMUST00000066652
AA Change: M1252L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000063999
Gene: ENSMUSG00000036333
AA Change: M1252L

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: M1131L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220622
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221622
Predicted Effect unknown
Transcript: ENSMUST00000222013
AA Change: M1040L
Predicted Effect probably benign
Transcript: ENSMUST00000222941
AA Change: M1222L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000222481
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk G T 11: 119,904,340 (GRCm39) P252Q probably damaging Het
Adamts4 T C 1: 171,086,503 (GRCm39) V765A probably benign Het
Agfg2 A T 5: 137,662,515 (GRCm39) V184E possibly damaging Het
Alas1 A T 9: 106,115,384 (GRCm39) I48N probably damaging Het
Anks1 T C 17: 28,204,095 (GRCm39) V181A probably damaging Het
Anxa8 A T 14: 33,818,527 (GRCm39) R261S probably damaging Het
Aqp4 T C 18: 15,526,608 (GRCm39) D291G probably damaging Het
Atrn A G 2: 130,812,142 (GRCm39) R696G probably benign Het
Barx2 A C 9: 31,824,308 (GRCm39) I27S probably damaging Het
Btnl1 A T 17: 34,598,725 (GRCm39) I114L possibly damaging Het
Casq1 C T 1: 172,043,097 (GRCm39) A200T probably damaging Het
Ccdc33 T A 9: 58,024,451 (GRCm39) E225D probably benign Het
Cd84 C A 1: 171,712,152 (GRCm39) probably null Het
Ceacam9 T G 7: 16,459,232 (GRCm39) L177R probably benign Het
Cenpi T A X: 133,218,782 (GRCm39) F161L possibly damaging Het
Cep63 T C 9: 102,480,079 (GRCm39) K251E probably damaging Het
Cetn3 A G 13: 81,932,816 (GRCm39) E25G probably damaging Het
Crybg3 T C 16: 59,364,488 (GRCm39) D2378G possibly damaging Het
Ddx19b T C 8: 111,735,975 (GRCm39) T357A possibly damaging Het
Dpep2 A C 8: 106,716,087 (GRCm39) Y266* probably null Het
Dqx1 G A 6: 83,035,558 (GRCm39) D24N probably damaging Het
Dsg4 A T 18: 20,604,269 (GRCm39) Y912F probably damaging Het
Fezf2 G T 14: 12,344,405 (GRCm38) P261T probably benign Het
Fmo1 T C 1: 162,667,325 (GRCm39) I163M possibly damaging Het
Garin1a A G 6: 29,285,921 (GRCm39) T69A probably benign Het
Gatad2a G A 8: 70,365,782 (GRCm39) R428* probably null Het
Gfpt1 T A 6: 87,031,612 (GRCm39) F85I possibly damaging Het
Gimap7 A T 6: 48,701,175 (GRCm39) I254F possibly damaging Het
Glcci1 T C 6: 8,592,980 (GRCm39) S261P probably damaging Het
Glis3 A T 19: 28,508,674 (GRCm39) F437I probably damaging Het
Glp1r C A 17: 31,144,601 (GRCm39) S258* probably null Het
Gpt2 C T 8: 86,242,832 (GRCm39) A288V possibly damaging Het
Grin2c G T 11: 115,151,731 (GRCm39) S76R possibly damaging Het
Guf1 T A 5: 69,724,569 (GRCm39) Y447* probably null Het
H2-T9 T A 17: 36,439,614 (GRCm39) D122V probably damaging Het
Hectd1 A C 12: 51,832,624 (GRCm39) L916V probably damaging Het
Hnf4g A G 3: 3,703,268 (GRCm39) K96E probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ifi207 T G 1: 173,562,805 (GRCm39) M114L probably benign Het
Ifi35 A T 11: 101,349,112 (GRCm39) E252V probably damaging Het
Igsf9b G A 9: 27,233,535 (GRCm39) R345H possibly damaging Het
Itih3 T C 14: 30,645,540 (GRCm39) probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kifap3 T A 1: 163,689,591 (GRCm39) L525* probably null Het
Limk2 A T 11: 3,305,461 (GRCm39) D35E probably benign Het
Lrrc37a G A 11: 103,389,792 (GRCm39) P1878S probably benign Het
Mansc4 T A 6: 146,977,173 (GRCm39) I148F probably benign Het
Mei1 A G 15: 81,987,513 (GRCm39) N859S probably benign Het
Mib1 A G 18: 10,812,064 (GRCm39) D987G probably damaging Het
Mroh8 A G 2: 157,113,895 (GRCm39) V132A possibly damaging Het
Npnt T C 3: 132,653,893 (GRCm39) I29M probably benign Het
Nrap T C 19: 56,372,537 (GRCm39) D138G probably damaging Het
Or10a3m A G 7: 108,312,902 (GRCm39) Y102C probably damaging Het
Or1e16 A T 11: 73,285,918 (GRCm39) I310N probably benign Het
Or2h1 T A 17: 37,404,700 (GRCm39) E22V probably damaging Het
Or6z7 T C 7: 6,483,931 (GRCm39) M75V probably benign Het
Osbpl5 A C 7: 143,295,408 (GRCm39) probably null Het
Pcna-ps2 T C 19: 9,261,047 (GRCm39) V102A possibly damaging Het
Pik3c2g T C 6: 139,599,546 (GRCm39) S221P probably damaging Het
Plppr3 A G 10: 79,702,259 (GRCm39) I271T probably damaging Het
Ppp4r3c1 A T X: 88,975,051 (GRCm39) V382E probably damaging Het
Pramel25 C A 4: 143,521,720 (GRCm39) H445Q probably benign Het
Prkar1b C T 5: 139,113,398 (GRCm39) A41T probably benign Het
Prkcsh A G 9: 21,924,164 (GRCm39) D458G probably damaging Het
Prr14 G T 7: 127,074,662 (GRCm39) R398L possibly damaging Het
Ptafr A G 4: 132,307,296 (GRCm39) R229G probably damaging Het
Rbp3 T C 14: 33,676,502 (GRCm39) F150S probably damaging Het
Rel C T 11: 23,692,761 (GRCm39) G424D probably benign Het
Rlf T C 4: 121,007,309 (GRCm39) Y557C probably damaging Het
Samt3 A C X: 85,090,740 (GRCm39) M211L probably benign Het
Selenop A T 15: 3,305,176 (GRCm39) I111F probably damaging Het
Slc2a2 G A 3: 28,771,590 (GRCm39) M173I probably benign Het
Slc43a1 G T 2: 84,687,233 (GRCm39) G361V possibly damaging Het
Slit2 G A 5: 48,407,178 (GRCm39) V870M probably damaging Het
Ssxb10 A G X: 8,197,258 (GRCm39) D77G probably benign Het
Stk32b T A 5: 37,806,458 (GRCm39) I29F probably damaging Het
Stra6l T A 4: 45,867,237 (GRCm39) C161* probably null Het
Tecpr2 T A 12: 110,921,219 (GRCm39) M1264K probably benign Het
Tfap2c A T 2: 172,399,156 (GRCm39) I468F probably damaging Het
Ticam1 C T 17: 56,578,555 (GRCm39) R180H probably damaging Het
Tlr4 T A 4: 66,759,272 (GRCm39) N688K probably benign Het
Tmem35b A T 4: 127,019,846 (GRCm39) probably benign Het
Ugt2b34 T C 5: 87,054,172 (GRCm39) E203G probably damaging Het
Vegfa A C 17: 46,329,786 (GRCm39) *393G probably null Het
Vmn2r16 T C 5: 109,511,890 (GRCm39) V699A probably benign Het
Zfp324 T C 7: 12,705,145 (GRCm39) S445P probably damaging Het
Zfp982 T A 4: 147,597,049 (GRCm39) C135* probably null Het
Zfp990 A C 4: 145,263,439 (GRCm39) N146H probably damaging Het
Zfyve26 A G 12: 79,302,017 (GRCm39) Y431H 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
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
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'- ACTCGTTACATGTCAGATAGCTG -3'
(R):5'- TAGACACTGGTTAAGTAGCGC -3'

Sequencing Primer
(F):5'- ATTCTATATGCATTGGCTGTGATTTC -3'
(R):5'- CACTGGTTAAGTAGCGCTGTAATTC -3'
Posted On 2014-08-25