Incidental Mutation 'R5707:Kidins220'
ID 452041
Institutional Source Beutler Lab
Gene Symbol Kidins220
Ensembl Gene ENSMUSG00000036333
Gene Name kinase D-interacting substrate 220
Synonyms C330002I19Rik, 3110039L19Rik
MMRRC Submission 043332-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5707 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 25024924-25113151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25063390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 933 (D933G)
Ref Sequence ENSEMBL: ENSMUSP00000152683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066652] [ENSMUST00000220459] [ENSMUST00000222941]
AlphaFold E9Q9B7
Predicted Effect probably damaging
Transcript: ENSMUST00000066652
AA Change: D933G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063999
Gene: ENSMUSG00000036333
AA Change: D933G

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 damaging
Transcript: ENSMUST00000220459
AA Change: D891G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221423
Predicted Effect unknown
Transcript: ENSMUST00000222013
AA Change: D762G
Predicted Effect probably damaging
Transcript: ENSMUST00000222941
AA Change: D933G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.1954 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (56/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,460,620 (GRCm39) L4210P probably damaging Het
Adcy6 T C 15: 98,496,622 (GRCm39) T518A probably damaging Het
Adgb C T 10: 10,267,501 (GRCm39) V940I probably damaging Het
Aqp11 A G 7: 97,386,635 (GRCm39) V187A possibly damaging Het
Arhgef15 A G 11: 68,845,541 (GRCm39) S104P probably damaging Het
Birc6 T A 17: 75,003,399 (GRCm39) N4762K probably damaging Het
Cacna1e T C 1: 154,509,463 (GRCm39) D264G probably damaging Het
Cela3b G T 4: 137,152,167 (GRCm39) Q97K probably damaging Het
Cenpc1 T A 5: 86,183,293 (GRCm39) R499W possibly damaging Het
Chct1 A G 11: 85,064,138 (GRCm39) N93S probably benign Het
Cnr1 C A 4: 33,944,330 (GRCm39) C239* probably null Het
Col6a2 T C 10: 76,446,865 (GRCm39) K348E possibly damaging Het
Ctnnb1 C A 9: 120,784,234 (GRCm39) L368I probably benign Het
Diras1 T C 10: 80,857,915 (GRCm39) E112G probably benign Het
Dop1a T A 9: 86,385,050 (GRCm39) M332K possibly damaging Het
Dpy19l1 T C 9: 24,325,563 (GRCm39) *747W probably null Het
Dydc2 T G 14: 40,783,911 (GRCm39) T71P probably damaging Het
Elapor2 A G 5: 9,491,698 (GRCm39) Y686C probably damaging Het
Ggt1 T A 10: 75,421,072 (GRCm39) I429N probably benign Het
Gm5114 G C 7: 39,060,700 (GRCm39) L50V probably benign Het
Gm5121 T G 9: 57,241,766 (GRCm39) noncoding transcript Het
Kirrel3 A G 9: 34,924,572 (GRCm39) K286R probably damaging Het
Klf5 T C 14: 99,538,944 (GRCm39) I39T probably benign Het
Krt14 C T 11: 100,095,584 (GRCm39) V274I possibly damaging Het
Meiob A G 17: 25,054,025 (GRCm39) D364G probably benign Het
Mroh7 T A 4: 106,539,082 (GRCm39) E1190D possibly damaging Het
Mtmr7 T C 8: 41,011,203 (GRCm39) E285G possibly damaging Het
Nhsl1 C T 10: 18,402,251 (GRCm39) T1159M probably damaging Het
Odad4 G A 11: 100,444,887 (GRCm39) A348T probably damaging Het
Or1af1 C A 2: 37,109,901 (GRCm39) N133K probably benign Het
Or1e23 G T 11: 73,407,451 (GRCm39) D191E probably damaging Het
Or2b2b A G 13: 21,858,769 (GRCm39) L115P probably damaging Het
Pcare G T 17: 72,058,567 (GRCm39) A370E possibly damaging Het
Pdlim5 T A 3: 142,010,060 (GRCm39) H294L probably damaging Het
Pdzd8 A T 19: 59,288,057 (GRCm39) D1114E probably benign Het
Phf20 T G 2: 156,138,691 (GRCm39) probably null Het
Plec C T 15: 76,083,871 (GRCm39) probably benign Het
Ppp1r18 T C 17: 36,178,128 (GRCm39) M1T probably null Het
Ppp4r3a G A 12: 101,024,770 (GRCm39) T243I probably damaging Het
Prss41 C T 17: 24,061,390 (GRCm39) V134I probably benign Het
Pter T C 2: 12,982,991 (GRCm39) probably benign Het
Rasgef1b T G 5: 99,382,461 (GRCm39) K176N possibly damaging Het
Reps1 T A 10: 17,931,758 (GRCm39) D16E probably benign Het
Slc4a5 T A 6: 83,238,397 (GRCm39) D73E probably benign Het
Smgc A T 15: 91,744,861 (GRCm39) T146S possibly damaging Het
Sptbn1 A T 11: 30,093,174 (GRCm39) W396R possibly damaging Het
Stkld1 A G 2: 26,833,999 (GRCm39) E162G probably damaging Het
Tanc1 T C 2: 59,588,874 (GRCm39) F106L probably benign Het
Tarbp1 A G 8: 127,193,883 (GRCm39) Y340H probably damaging Het
Tenm2 T C 11: 35,938,009 (GRCm39) I1556V possibly damaging Het
Tmem64 T C 4: 15,266,288 (GRCm39) C113R probably damaging Het
Try4 T C 6: 41,281,977 (GRCm39) F188L possibly damaging Het
Ucn3 A G 13: 3,991,556 (GRCm39) V32A probably benign Het
Vmn2r83 T A 10: 79,327,183 (GRCm39) M597K possibly damaging Het
Wdr90 A G 17: 26,076,166 (GRCm39) V491A probably benign Het
Xylt1 T A 7: 117,255,717 (GRCm39) M763K possibly damaging Het
Zfp507 G T 7: 35,493,588 (GRCm39) A485E 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
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'- ACTGAGTTGGCTCTGCAGTC -3'
(R):5'- CACTCAAAGTGCTCTGTTAACG -3'

Sequencing Primer
(F):5'- CTGCAGTCTGTTTTGTTGGTCTTACC -3'
(R):5'- TCTGGGGGTGCAACTCAATAGC -3'
Posted On 2017-01-03