Incidental Mutation 'R7510:Kidins220'
ID 582043
Institutional Source Beutler Lab
Gene Symbol Kidins220
Ensembl Gene ENSMUSG00000036333
Gene Name kinase D-interacting substrate 220
Synonyms C330002I19Rik, 3110039L19Rik
MMRRC Submission 045583-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7510 (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 25042268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 146 (H146Q)
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: H188Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063999
Gene: ENSMUSG00000036333
AA Change: H188Q

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: H146Q

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect
Predicted Effect possibly damaging
Transcript: ENSMUST00000222941
AA Change: H188Q

PolyPhen 2 Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.0%
Validation Efficiency 97% (65/67)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b1 C T 10: 98,829,758 (GRCm39) R320C probably benign Het
Bend4 A G 5: 67,584,727 (GRCm39) F66L unknown Het
Brca2 T C 5: 150,460,156 (GRCm39) V477A possibly damaging Het
Brms1l A T 12: 55,892,107 (GRCm39) K134* probably null Het
Catsper1 A T 19: 5,389,578 (GRCm39) T498S probably benign Het
Ccdc177 C A 12: 80,804,457 (GRCm39) V606L unknown Het
D030056L22Rik G T 19: 18,690,853 (GRCm39) A56S possibly damaging Het
Disp1 T C 1: 182,869,975 (GRCm39) N815S probably damaging Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Fancf A G 7: 51,511,953 (GRCm39) V17A probably damaging Het
Fastkd2 T A 1: 63,776,948 (GRCm39) H361Q possibly damaging Het
Furin A G 7: 80,043,333 (GRCm39) S293P probably damaging Het
Ghsr A T 3: 27,426,523 (GRCm39) D193V probably benign Het
Gm14403 T A 2: 177,200,403 (GRCm39) N116K probably benign Het
Gpr31b A G 17: 13,270,557 (GRCm39) L204P probably damaging Het
Hexim1 A G 11: 103,008,067 (GRCm39) E107G probably benign Het
Hspa14 T C 2: 3,499,159 (GRCm39) S212G probably benign Het
Il18r1 T A 1: 40,514,035 (GRCm39) H80Q probably benign Het
Itpr3 A G 17: 27,308,013 (GRCm39) T267A probably damaging Het
Larp4 T C 15: 99,891,258 (GRCm39) F228L probably benign Het
Ltbp1 T A 17: 75,659,712 (GRCm39) V1288E probably damaging Het
Madd T C 2: 91,008,321 (GRCm39) T194A possibly damaging Het
Mlana G A 19: 29,682,072 (GRCm39) G42S probably benign Het
Mlxipl A G 5: 135,161,972 (GRCm39) E548G possibly damaging Het
Mmab A T 5: 114,573,283 (GRCm39) C228S probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nrf1 C T 6: 30,151,633 (GRCm39) T490I possibly damaging Het
Numbl A G 7: 26,971,412 (GRCm39) probably null Het
Or12e13 T A 2: 87,663,872 (GRCm39) I163K probably damaging Het
Or13c7 A G 4: 43,854,482 (GRCm39) T58A probably benign Het
Or5bw2 C T 7: 6,572,960 (GRCm39) probably benign Het
Or5v1b T A 17: 37,841,480 (GRCm39) I204N probably damaging Het
Or6c3b G T 10: 129,527,789 (GRCm39) N40K probably damaging Het
Or9g8 T A 2: 85,607,153 (GRCm39) V75D probably damaging Het
Papln G A 12: 83,818,947 (GRCm39) D96N probably damaging Het
Pcdhb14 T C 18: 37,582,645 (GRCm39) Y584H probably damaging Het
Pde7b T C 10: 20,288,761 (GRCm39) D310G possibly damaging Het
Plin5 T A 17: 56,420,975 (GRCm39) H230L probably damaging Het
Ppp1r13l A C 7: 19,102,726 (GRCm39) E47A possibly damaging Het
Prdm5 C T 6: 65,904,976 (GRCm39) H536Y probably damaging Het
Prickle2 T C 6: 92,353,451 (GRCm39) R728G possibly damaging Het
Prkca A T 11: 107,874,820 (GRCm39) V374E possibly damaging Het
Prss3 A T 6: 41,352,044 (GRCm39) L73* probably null Het
Prss51 G A 14: 64,333,489 (GRCm39) D33N probably damaging Het
Rfwd3 A G 8: 112,006,659 (GRCm39) V479A probably damaging Het
Rpl36a-ps1 G A 14: 99,231,666 (GRCm39) T24I probably benign Het
Rps6ka5 T C 12: 100,582,327 (GRCm39) I182V possibly damaging Het
Saa2 T A 7: 46,402,933 (GRCm39) D61E probably damaging Het
Samd3 A T 10: 26,106,006 (GRCm39) I22F probably benign Het
Sap130 C T 18: 31,800,057 (GRCm39) P403L probably damaging Het
Sap130 A G 18: 31,844,268 (GRCm39) T813A probably damaging Het
Scfd2 A G 5: 74,372,988 (GRCm39) F629S probably damaging Het
Sec61a1 A T 6: 88,489,585 (GRCm39) F119I probably benign Het
Serpinb9 T A 13: 33,194,768 (GRCm39) F175I probably damaging Het
Slc12a3 G T 8: 95,092,477 (GRCm39) C966F probably damaging Het
Sptbn4 A G 7: 27,127,693 (GRCm39) V169A probably benign Het
Synj1 A G 16: 90,735,565 (GRCm39) S1463P probably benign Het
Tfec T A 6: 16,835,232 (GRCm39) H182L probably benign Het
Tigd5 T C 15: 75,782,268 (GRCm39) V210A probably benign Het
Tssc4 G A 7: 142,623,718 (GRCm39) E9K possibly damaging Het
Txk C G 5: 72,893,726 (GRCm39) C18S unknown Het
Uaca G A 9: 60,757,487 (GRCm39) probably null Het
Vmn2r1 A C 3: 63,993,922 (GRCm39) K89N probably damaging Het
Zfp160 G A 17: 21,246,655 (GRCm39) E402K probably benign 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
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'- CATGCCGTAACTGTGTGGAG -3'
(R):5'- GCAACAGATTCTCAAAGGCAAATG -3'

Sequencing Primer
(F):5'- CCGTAACTGTGTGGAGTTGTG -3'
(R):5'- TGAGCTCACTGAAAGCCTG -3'
Posted On 2019-10-17