Incidental Mutation 'R9655:Kidins220'
ID 735485
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 # R9655 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 25024924-25113151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25047295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 247 (L247P)
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: L289P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063999
Gene: ENSMUSG00000036333
AA Change: L289P

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: L247P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222013
AA Change: L118P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000222941
AA Change: L289P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.7%
Validation Efficiency
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T A 7: 130,740,695 (GRCm39) I174F possibly damaging Het
Ada C A 2: 163,574,270 (GRCm39) V129F probably damaging Het
Adgrl4 G T 3: 151,248,450 (GRCm39) M707I probably damaging Het
Ahcyl A T 16: 45,974,564 (GRCm39) I271N probably damaging Het
Arrb2 A G 11: 70,331,073 (GRCm39) Q419R probably null Het
Atad2 A T 15: 57,998,303 (GRCm39) L23Q probably damaging Het
Btbd2 A T 10: 80,492,045 (GRCm39) F107Y probably benign Het
C7 T A 15: 5,041,464 (GRCm39) T481S probably damaging Het
Capn10 T A 1: 92,867,111 (GRCm39) W114R probably damaging Het
Ccdc121 C T 5: 31,644,976 (GRCm39) T243I probably benign Het
Cdc16 T A 8: 13,809,153 (GRCm39) D39E possibly damaging Het
Cfap74 A T 4: 155,522,665 (GRCm39) I684F Het
Cyp2c70 T A 19: 40,149,121 (GRCm39) N342Y possibly damaging Het
Dnah17 G A 11: 117,971,649 (GRCm39) T2128I possibly damaging Het
Dnah5 A G 15: 28,242,900 (GRCm39) N545S probably benign Het
Dnmt3c A G 2: 153,561,914 (GRCm39) N539S probably damaging Het
Elfn1 A G 5: 139,958,964 (GRCm39) E656G possibly damaging Het
Exd1 A T 2: 119,350,855 (GRCm39) C469S probably damaging Het
F5 A T 1: 164,021,730 (GRCm39) I1402F probably benign Het
Fam186a A G 15: 99,840,973 (GRCm39) L1757P probably damaging Het
Fbxo42 A T 4: 140,895,171 (GRCm39) R45W probably damaging Het
Fer1l5 T C 1: 36,460,696 (GRCm39) V1978A probably benign Het
Fpr1 T A 17: 18,097,618 (GRCm39) I124F probably damaging Het
Fry A T 5: 150,362,251 (GRCm39) D2173V possibly damaging Het
Gabbr2 G T 4: 46,815,684 (GRCm39) T228K possibly damaging Het
Galnt9 A T 5: 110,762,104 (GRCm39) Y414F probably damaging Het
Gask1a T A 9: 121,794,170 (GRCm39) L108Q probably benign Het
Ggt5 A T 10: 75,444,635 (GRCm39) M318L probably benign Het
Glod4 A C 11: 76,125,292 (GRCm39) S156A probably benign Het
Gm5431 A T 11: 48,785,799 (GRCm39) M192K probably benign Het
Golga5 C T 12: 102,446,008 (GRCm39) S421L possibly damaging Het
Gpr18 T C 14: 122,149,992 (GRCm39) D11G probably benign Het
Igf2bp3 C T 6: 49,064,338 (GRCm39) V560I probably benign Het
Igfals A G 17: 25,099,665 (GRCm39) N252S probably damaging Het
Ighv8-5 C T 12: 115,031,416 (GRCm39) C41Y probably damaging Het
Iqgap3 T A 3: 88,016,728 (GRCm39) V1070D possibly damaging Het
Kdr G A 5: 76,122,488 (GRCm39) A479V probably benign Het
Kmt5a A G 5: 124,589,393 (GRCm39) Y197C probably damaging Het
Krt33a A C 11: 99,906,624 (GRCm39) probably null Het
Mageb3 A G 2: 121,785,649 (GRCm39) S18P unknown Het
Mast1 T A 8: 85,650,660 (GRCm39) Y387F probably damaging Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Med17 C T 9: 15,176,719 (GRCm39) V503M possibly damaging Het
Mpp3 A G 11: 101,899,481 (GRCm39) C347R probably benign Het
Mtr A G 13: 12,203,030 (GRCm39) L1191P probably damaging Het
Mybphl A T 3: 108,282,099 (GRCm39) I110F probably damaging Het
Nkx2-1 T A 12: 56,581,802 (GRCm39) D15V probably damaging Het
Nwd2 G A 5: 63,964,568 (GRCm39) W1384* probably null Het
Onecut1 A G 9: 74,770,330 (GRCm39) H251R possibly damaging Het
Or10ak8 T A 4: 118,773,804 (GRCm39) N287Y probably damaging Het
Or13f5 C T 4: 52,825,526 (GRCm39) T43I probably benign Het
Or51a6 A G 7: 102,604,319 (GRCm39) F163S probably damaging Het
Or8b37 A T 9: 37,959,387 (GRCm39) I290L probably benign Het
Palmd T C 3: 116,716,840 (GRCm39) *552W probably null Het
Pcdhgb2 A G 18: 37,823,285 (GRCm39) E92G probably damaging Het
Pcdhgb5 G T 18: 37,865,122 (GRCm39) E306* probably null Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pex1 T A 5: 3,655,653 (GRCm39) L160Q probably damaging Het
Phxr2 A T 10: 98,961,974 (GRCm39) S29T unknown Het
Ppargc1a A G 5: 51,705,852 (GRCm39) probably null Het
Psmb11 T C 14: 54,862,965 (GRCm39) V61A probably damaging Het
Ripor2 A T 13: 24,908,983 (GRCm39) I1034F possibly damaging Het
Rnaset2b T A 17: 7,259,134 (GRCm39) N133K probably damaging Het
Rtn4 A G 11: 29,657,504 (GRCm39) T553A probably damaging Het
Samd9l T A 6: 3,373,578 (GRCm39) T1228S probably benign Het
Sdr42e2 A G 7: 120,430,279 (GRCm39) T379A probably benign Het
Shisal2a C A 4: 108,234,616 (GRCm39) V84L possibly damaging Het
Slc1a1 C T 19: 28,870,283 (GRCm39) A94V probably damaging Het
Snx31 C T 15: 36,534,582 (GRCm39) C197Y probably damaging Het
Tbc1d4 A G 14: 101,744,567 (GRCm39) V353A probably damaging Het
Tbc1d9b A G 11: 50,059,610 (GRCm39) D1004G possibly damaging Het
Tex15 T A 8: 34,066,784 (GRCm39) Y2071* probably null Het
Tnni3k G A 3: 154,645,410 (GRCm39) R492* probably null Het
Tns2 A G 15: 102,012,933 (GRCm39) H7R probably benign Het
Top2a G T 11: 98,905,334 (GRCm39) N369K probably damaging Het
Tpbg A T 9: 85,726,252 (GRCm39) T74S probably damaging Het
Trpm6 A G 19: 18,869,466 (GRCm39) N2018D probably benign Het
Trub2 A T 2: 29,669,833 (GRCm39) probably null Het
Vps13d A G 4: 144,813,305 (GRCm39) F3324L Het
Wdr20rt A T 12: 65,273,707 (GRCm39) Q390L probably benign Het
Wdr49 T A 3: 75,240,561 (GRCm39) D436V probably damaging Het
Zfp111 C T 7: 23,898,543 (GRCm39) G357D probably damaging Het
Zfp668 A G 7: 127,466,113 (GRCm39) V357A 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
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
R9664:Kidins220 UTSW 12 25,106,895 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- TGTCATACGCAGAAGGTTGC -3'
(R):5'- CTGGAACTTTAGAATAGTGCCAATG -3'

Sequencing Primer
(F):5'- CATACGCAGAAGGTTGCTAATATCAG -3'
(R):5'- CTTTAGAATAGTGCCAATGAAACACC -3'
Posted On 2022-11-14