Incidental Mutation 'R9193:Kidins220'
ID 697822
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 # R9193 (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 25036966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 16 (I16F)
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: I58F

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000063999
Gene: ENSMUSG00000036333
AA Change: I58F

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: I16F

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000222941
AA Change: I58F

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (61/61)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak1 A T 2: 32,520,391 (GRCm39) K79M probably benign Het
Amy1 T C 3: 113,356,278 (GRCm39) K293E probably benign Het
Bcl2l10 A G 9: 75,255,333 (GRCm39) Q50R probably benign Het
Bpifa6 G A 2: 153,826,740 (GRCm39) G35D probably benign Het
Cachd1 C A 4: 100,634,339 (GRCm39) P5Q unknown Het
Capn13 A T 17: 73,652,191 (GRCm39) I266N probably damaging Het
Chil3 A G 3: 106,063,081 (GRCm39) S170P possibly damaging Het
Ckap4 A G 10: 84,363,350 (GRCm39) I571T probably damaging Het
Col14a1 A G 15: 55,242,964 (GRCm39) M371V unknown Het
Dag1 A G 9: 108,085,467 (GRCm39) L558P possibly damaging Het
Edem3 G A 1: 151,694,270 (GRCm39) E868K probably benign Het
Eif3k T C 7: 28,673,624 (GRCm39) Y150C probably damaging Het
Farp1 T C 14: 121,518,281 (GRCm39) I988T probably benign Het
Fat3 A G 9: 15,910,248 (GRCm39) M1918T probably benign Het
Gba2 A G 4: 43,578,112 (GRCm39) I79T probably benign Het
Gbp8 T C 5: 105,179,169 (GRCm39) D110G probably damaging Het
Gm57858 G T 3: 36,089,428 (GRCm39) N165K probably benign Het
H2-M2 T A 17: 37,793,428 (GRCm39) M193L probably benign Het
H2-T13 A G 17: 36,391,956 (GRCm39) V39A possibly damaging Het
Ighv7-1 T A 12: 113,860,110 (GRCm39) D94V probably damaging Het
Il2ra T C 2: 11,689,202 (GRCm39) F244L possibly damaging Het
Jag1 A T 2: 136,931,764 (GRCm39) H602Q probably null Het
Klb A G 5: 65,529,368 (GRCm39) T299A possibly damaging Het
Lama4 A G 10: 38,951,444 (GRCm39) K1063R probably benign Het
Lrit2 A G 14: 36,794,550 (GRCm39) E538G possibly damaging Het
Lrrc7 A T 3: 158,059,011 (GRCm39) L32* probably null Het
Lrrtm3 A T 10: 63,765,883 (GRCm39) I568N probably damaging Het
Myom1 A G 17: 71,343,295 (GRCm39) D164G probably damaging Het
Naaladl2 T C 3: 23,900,742 (GRCm39) D696G probably damaging Het
Nalcn A T 14: 123,545,792 (GRCm39) L1073* probably null Het
Nid2 T C 14: 19,853,278 (GRCm39) S1166P probably damaging Het
Nlrp4c T C 7: 6,095,621 (GRCm39) V833A probably benign Het
Nyap2 T C 1: 81,275,712 (GRCm39) S619P probably damaging Het
Or10d5j T C 9: 39,867,878 (GRCm39) M118V probably damaging Het
Or2a20 A T 6: 43,194,086 (GRCm39) T80S probably benign Het
Or4a71 A G 2: 89,357,987 (GRCm39) Y256H probably damaging Het
Or8k16 C A 2: 85,520,644 (GRCm39) Y290* probably null Het
P3h2 T C 16: 25,923,991 (GRCm39) N148S probably benign Het
P4htm A G 9: 108,460,081 (GRCm39) M231T probably damaging Het
Pank1 T A 19: 34,804,634 (GRCm39) K349I possibly damaging Het
Pgam5 A G 5: 110,413,466 (GRCm39) Y210H probably benign Het
Prb1b T C 6: 132,288,996 (GRCm39) H276R unknown Het
Prl2a1 T A 13: 27,992,535 (GRCm39) C220S probably damaging Het
Psca C T 15: 74,587,932 (GRCm39) Q39* probably null Het
Rgs20 A T 1: 5,091,067 (GRCm39) M121K possibly damaging Het
S100z C T 13: 95,613,883 (GRCm39) V76M possibly damaging Het
Slc30a10 T C 1: 185,195,034 (GRCm39) I282T probably damaging Het
Slc30a3 T C 5: 31,246,088 (GRCm39) Y214C probably damaging Het
Sox5 C T 6: 143,790,570 (GRCm39) E497K probably benign Het
Spata31g1 A G 4: 42,971,519 (GRCm39) D284G probably benign Het
Sptbn1 C T 11: 30,087,551 (GRCm39) E963K possibly damaging Het
Srl T C 16: 4,311,723 (GRCm39) E465G possibly damaging Het
Tacc2 T C 7: 130,228,304 (GRCm39) M1663T probably benign Het
Tas2r119 T G 15: 32,177,932 (GRCm39) V166G probably benign Het
Tcf7l1 A G 6: 72,611,205 (GRCm39) V191A probably damaging Het
Thap7 A T 16: 17,346,901 (GRCm39) I92K probably damaging Het
Tnfsf10 A G 3: 27,371,407 (GRCm39) T38A possibly damaging Het
Trav7-5 C G 14: 53,768,615 (GRCm39) A61G probably benign Het
Trim30c C T 7: 104,031,553 (GRCm39) V421I probably benign Het
Ugt2b38 A T 5: 87,571,729 (GRCm39) M101K probably benign Het
Vmn1r44 T A 6: 89,870,565 (GRCm39) C104S probably damaging Het
Wdr74 T A 19: 8,715,240 (GRCm39) V133E probably damaging Het
Zfp735 A T 11: 73,580,600 (GRCm39) Y33F 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
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
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'- TGAGCTGTATACCCTACCTAGC -3'
(R):5'- CTAGTAGTCGAAGGAACCTAGGAC -3'

Sequencing Primer
(F):5'- GAGCTGTATACCCTACCTAGCTTATG -3'
(R):5'- ACCTCCTAAATGCTGGGATTG -3'
Posted On 2022-02-07