Incidental Mutation 'R8831:Kidins220'
ID 673853
Institutional Source Beutler Lab
Gene Symbol Kidins220
Ensembl Gene ENSMUSG00000036333
Gene Name kinase D-interacting substrate 220
Synonyms C330002I19Rik, 3110039L19Rik
MMRRC Submission 068659-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8831 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 25024924-25113151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25086454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 963 (I963L)
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: I1005L

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000063999
Gene: ENSMUSG00000036333
AA Change: I1005L

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: I963L

PolyPhen 2 Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect
Predicted Effect possibly damaging
Transcript: ENSMUST00000222941
AA Change: I1005L

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (81/82)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik A T 8: 12,329,688 (GRCm39) I48L unknown Het
Abcc3 A C 11: 94,241,787 (GRCm39) C1415G probably damaging Het
Abcf3 C T 16: 20,369,214 (GRCm39) R205C probably damaging Het
Abcg5 G T 17: 84,976,423 (GRCm39) H471Q probably damaging Het
Actl6b G A 5: 137,565,305 (GRCm39) R363Q probably damaging Het
Adcy1 T A 11: 7,111,362 (GRCm39) D884E probably benign Het
Aldh3a1 A G 11: 61,107,142 (GRCm39) Y282C probably damaging Het
Amdhd2 A G 17: 24,376,712 (GRCm39) probably null Het
Arfgef3 A G 10: 18,528,491 (GRCm39) S299P possibly damaging Het
Asic2 A T 11: 81,858,726 (GRCm39) N95K probably damaging Het
Atp2c2 A G 8: 120,476,033 (GRCm39) probably null Het
Atrn T C 2: 130,748,521 (GRCm39) L14P probably benign Het
C8b A G 4: 104,647,874 (GRCm39) Y355C probably damaging Het
Carm1 A G 9: 21,491,663 (GRCm39) E244G probably damaging Het
Cd300c2 A T 11: 114,891,844 (GRCm39) C39* probably null Het
Cish T A 9: 107,177,671 (GRCm39) F116I probably damaging Het
Clstn1 G A 4: 149,730,780 (GRCm39) R837Q probably benign Het
Cox10 A G 11: 63,855,306 (GRCm39) F325S probably damaging Het
Cplane1 T C 15: 8,211,620 (GRCm39) I320T probably benign Het
Ctps1 A T 4: 120,424,507 (GRCm39) S36T possibly damaging Het
Dchs2 T C 3: 83,192,670 (GRCm39) L1705P probably benign Het
Defb25 C A 2: 152,464,899 (GRCm39) V17L probably benign Het
Dhx16 A G 17: 36,199,000 (GRCm39) D782G probably damaging Het
Dhx30 A G 9: 109,917,319 (GRCm39) S399P probably benign Het
Dhx58 T A 11: 100,594,806 (GRCm39) K30M probably damaging Het
Drc7 G A 8: 95,788,845 (GRCm39) R301Q probably damaging Het
Dsg1a T C 18: 20,453,365 (GRCm39) V21A probably damaging Het
Ercc6 T A 14: 32,282,784 (GRCm39) probably null Het
Fam193a A G 5: 34,616,374 (GRCm39) T850A probably benign Het
Fgf10 A G 13: 118,925,671 (GRCm39) D150G probably damaging Het
Flii A T 11: 60,616,074 (GRCm39) N28K probably benign Het
Gfi1 G A 5: 107,868,138 (GRCm39) R377C probably damaging Het
Gfra2 A T 14: 71,204,503 (GRCm39) N324I probably benign Het
Gm10308 A G 17: 91,396,431 (GRCm39) R118G unknown Het
Gm10801 T A 2: 98,494,334 (GRCm39) V137E probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Hsd3b9 A T 3: 98,354,047 (GRCm39) W151R probably benign Het
Ift80 G A 3: 68,869,583 (GRCm39) A236V probably damaging Het
Il1rn A T 2: 24,239,505 (GRCm39) T134S possibly damaging Het
Il6st G T 13: 112,640,914 (GRCm39) D897Y probably damaging Het
Imp4 T C 1: 34,483,445 (GRCm39) M257T probably benign Het
Impdh2 T C 9: 108,441,957 (GRCm39) L377S probably damaging Het
Kdm1b C A 13: 47,217,617 (GRCm39) L359I possibly damaging Het
Mdm4 T C 1: 132,931,601 (GRCm39) R148G probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Ncor1 A T 11: 62,260,234 (GRCm39) D505E probably benign Het
Necab3 A T 2: 154,396,607 (GRCm39) L107Q probably damaging Het
Nkx2-4 G A 2: 146,927,114 (GRCm39) P51L probably benign Het
Nol11 T C 11: 107,067,662 (GRCm39) T388A probably benign Het
Npc1 T A 18: 12,333,877 (GRCm39) M735L probably benign Het
Nr1h3 C A 2: 91,021,091 (GRCm39) R232L probably benign Het
Nrcam T A 12: 44,591,680 (GRCm39) probably null Het
Or1j13 G A 2: 36,369,794 (GRCm39) T116I possibly damaging Het
Or52s1b T A 7: 102,822,203 (GRCm39) I214L probably benign Het
Pabpn1 T C 14: 55,131,914 (GRCm39) V101A probably damaging Het
Pcare A T 17: 72,059,305 (GRCm39) V124E probably benign Het
Pcbp2 A G 15: 102,394,453 (GRCm39) D217G probably benign Het
Pcdhb12 A G 18: 37,570,386 (GRCm39) M511V probably benign Het
Phf3 T A 1: 30,860,347 (GRCm39) K828* probably null Het
Plcg1 G C 2: 160,589,732 (GRCm39) K85N probably benign Het
Prag1 A T 8: 36,613,891 (GRCm39) T1148S probably benign Het
Prmt3 A G 7: 49,478,729 (GRCm39) E430G probably null Het
Prx G T 7: 27,217,538 (GRCm39) V819F probably damaging Het
Ptpn18 A T 1: 34,511,271 (GRCm39) R338W probably null Het
Rab6a T C 7: 100,283,931 (GRCm39) Y128H probably benign Het
Rgs2 T C 1: 143,877,497 (GRCm39) Y186C probably damaging Het
Rhbdl1 C T 17: 26,053,857 (GRCm39) V342M probably damaging Het
Rpn1 A G 6: 88,061,775 (GRCm39) Q88R probably benign Het
Slc19a2 C T 1: 164,084,443 (GRCm39) T111M probably damaging Het
Slc35e4 G A 11: 3,863,087 (GRCm39) P34L possibly damaging Het
Slc7a6os A T 8: 106,937,189 (GRCm39) D90E probably benign Het
Ssh3 A G 19: 4,319,053 (GRCm39) V19A possibly damaging Het
Susd1 C T 4: 59,379,594 (GRCm39) probably benign Het
Tcf19 A T 17: 35,825,794 (GRCm39) M121K possibly damaging Het
Tcp11 G A 17: 28,299,193 (GRCm39) R21C probably damaging Het
Tcp11l2 A G 10: 84,449,522 (GRCm39) I496V probably damaging Het
Tenm3 C T 8: 48,729,417 (GRCm39) A1530T Het
Tmem127 T A 2: 127,098,979 (GRCm39) V171D probably damaging Het
Tyrp1 G A 4: 80,753,399 (GRCm39) C30Y probably damaging Het
Usp48 A T 4: 137,341,080 (GRCm39) D360V probably damaging Het
Vamp4 T A 1: 162,401,952 (GRCm39) D11E possibly damaging Het
Vmn1r14 T C 6: 57,210,505 (GRCm39) F28L probably benign Het
Vmn2r69 G T 7: 85,059,018 (GRCm39) C514* probably null Het
Vmn2r84 G A 10: 130,226,968 (GRCm39) A290V probably benign Het
Zfp1007 A T 5: 109,824,174 (GRCm39) S425R probably benign Het
Zhx3 T A 2: 160,622,691 (GRCm39) Y492F 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
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
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'- CCCATCAGTGCAGTTCTGAC -3'
(R):5'- GCTGTACTACAATACCCACCTG -3'

Sequencing Primer
(F):5'- AGTGCAGTTCTGACTTCCTCACTG -3'
(R):5'- ACCTGCAATGATCTCCCGTAG -3'
Posted On 2021-07-15