Incidental Mutation 'R9303:Kidins220'
ID 705081
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 # R9303 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 25024924-25113151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 25107110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 1430 (T1430K)
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: T1551K

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000063999
Gene: ENSMUSG00000036333
AA Change: T1551K

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: T1430K

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000222013
Predicted Effect probably benign
Transcript: ENSMUST00000222481
Predicted Effect probably benign
Transcript: ENSMUST00000222941
AA Change: T1521K

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (57/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,126,989 (GRCm39) I1227V probably benign Het
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Adamts17 T C 7: 66,489,645 (GRCm39) L21P probably damaging Het
Adcy1 T C 11: 7,094,766 (GRCm39) V564A probably damaging Het
Adgre1 A G 17: 57,748,275 (GRCm39) N492D probably benign Het
Aldh1b1 G A 4: 45,803,811 (GRCm39) V450M probably damaging Het
Arv1 T A 8: 125,457,685 (GRCm39) H196Q probably damaging Het
Atp9a A T 2: 168,517,163 (GRCm39) I390N probably benign Het
Bltp1 A G 3: 37,098,969 (GRCm39) I1277V Het
Capn10 T C 1: 92,871,665 (GRCm39) probably null Het
Casq2 A G 3: 102,052,700 (GRCm39) D404G unknown Het
Cenpf T C 1: 189,392,271 (GRCm39) probably null Het
Cep295nl G A 11: 118,224,766 (GRCm39) P26L possibly damaging Het
Chmp4c T G 3: 10,454,974 (GRCm39) S214A probably benign Het
Chrna5 T C 9: 54,912,156 (GRCm39) F319L probably benign Het
Csmd1 G T 8: 16,011,532 (GRCm39) T2507K probably benign Het
Ctnnd2 T C 15: 30,967,037 (GRCm39) M996T probably damaging Het
Dbf4 T C 5: 8,448,102 (GRCm39) T328A unknown Het
Ddc C T 11: 11,779,132 (GRCm39) V331I probably benign Het
Fads2b A T 2: 85,330,649 (GRCm39) C219* probably null Het
Fat1 T A 8: 45,463,498 (GRCm39) W1347R probably damaging Het
Fbxw21 A G 9: 108,986,727 (GRCm39) F51L probably benign Het
Gng2 G T 14: 19,925,961 (GRCm39) H44N probably damaging Het
Hps5 G A 7: 46,438,619 (GRCm39) T38I possibly damaging Het
Igf2 G A 7: 142,208,153 (GRCm39) R64C probably damaging Het
Inpp4b C T 8: 82,759,758 (GRCm39) A601V probably damaging Het
Kdm2a A G 19: 4,395,606 (GRCm39) Y342H probably benign Het
Knl1 T C 2: 118,898,829 (GRCm39) C177R possibly damaging Het
Krt32 T C 11: 99,972,029 (GRCm39) T440A probably benign Het
Kynu T A 2: 43,569,768 (GRCm39) F350Y probably damaging Het
Lama4 T C 10: 38,973,137 (GRCm39) L1568P probably damaging Het
Lrp1b A T 2: 41,618,574 (GRCm39) S281T Het
Or2y3 A T 17: 38,393,629 (GRCm39) V80D probably damaging Het
Or5h23 A G 16: 58,906,802 (GRCm39) S15P probably benign Het
Or8c19-ps1 C T 9: 38,220,463 (GRCm39) T124M probably benign Het
Orc3 G A 4: 34,607,181 (GRCm39) R50* probably null Het
Osbpl6 T A 2: 76,378,716 (GRCm39) D124E probably damaging Het
Parp4 TG T 14: 56,832,790 (GRCm39) probably null Het
Parp4 T C 14: 56,852,224 (GRCm39) probably null Het
Pcdhb18 A C 18: 37,625,004 (GRCm39) H778P probably benign Het
Polg A T 7: 79,105,860 (GRCm39) Y710N probably benign Het
Ppp2r2b C A 18: 42,779,025 (GRCm39) R370L possibly damaging Het
Raet1e C T 10: 22,057,872 (GRCm39) T213I possibly damaging Het
Reln T A 5: 22,193,705 (GRCm39) S1418C possibly damaging Het
Reln T C 5: 22,285,689 (GRCm39) S427G probably benign Het
Rhobtb2 G A 14: 70,025,376 (GRCm39) H633Y probably damaging Het
Serpina3i T C 12: 104,234,881 (GRCm39) V404A probably damaging Het
Serpinb8 T C 1: 107,526,769 (GRCm39) probably null Het
Sorl1 G T 9: 41,900,739 (GRCm39) Q1658K probably damaging Het
Tmem26 G A 10: 68,559,816 (GRCm39) W29* probably null Het
Togaram2 A G 17: 71,996,408 (GRCm39) E137G probably damaging Het
Ttc39b A G 4: 83,151,023 (GRCm39) L524S probably damaging Het
Usp43 T C 11: 67,767,345 (GRCm39) N675S probably damaging Het
Vmn2r104 A G 17: 20,268,439 (GRCm39) L10P possibly damaging Het
Zbtb1 G A 12: 76,432,773 (GRCm39) R253Q probably damaging Het
Zfp354b T A 11: 50,820,256 (GRCm39) R36S probably 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
R9267:Kidins220 UTSW 12 25,038,558 (GRCm39) missense probably benign 0.29
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'- AGGGGTGTCCACTAATGAGG -3'
(R):5'- GGTTGGGAGAACTCTCATTGGAC -3'

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