Mutagenetix > Incidental Mutation

Incidental Mutation 'R8392:Kidins220'

647437

Institutional Source

Beutler Lab

Gene Symbol

Kidins220

Ensembl Gene

ENSMUSG00000036333

Gene Name

kinase D-interacting substrate 220

Synonyms

C330002I19Rik, 3110039L19Rik

MMRRC Submission

067757-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8392 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25024924-25113151 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25040727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 111 (V111E)

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: V153E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063999
Gene: ENSMUSG00000036333
AA Change: V153E

Domain	Start	End	E-Value	Type
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: V111E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000222013

Predicted Effect

probably damaging
Transcript: ENSMUST00000222941
AA Change: V153E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	G	A	5: 81,794,397 (GRCm39)	A473T	probably benign	Het
Ano2	T	A	6: 125,857,698 (GRCm39)	N512K	probably benign	Het
Arhgap18	A	T	10: 26,721,936 (GRCm39)	Y41F	probably benign	Het
Baz1a	T	A	12: 54,969,908 (GRCm39)	D584V	probably damaging	Het
Ccl2	A	T	11: 81,927,808 (GRCm39)	Q84L	probably damaging	Het
Cdv3	T	A	9: 103,232,474 (GRCm39)	H245L	probably benign	Het
Cfap54	T	G	10: 92,798,279 (GRCm39)	K1660T	unknown	Het
Col4a1	T	A	8: 11,258,333 (GRCm39)		probably null	Het
Cpeb3	TTGCTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG	19: 37,152,291 (GRCm39)		probably benign	Het
Crebbp	G	A	16: 3,902,145 (GRCm39)	R2365W	possibly damaging	Het
Crppa	T	A	12: 36,440,497 (GRCm39)	L135Q	probably damaging	Het
Ctsc	A	T	7: 87,946,451 (GRCm39)	Q160L	probably benign	Het
Cyp4a10	C	T	4: 115,386,675 (GRCm39)	R441*	probably null	Het
Cyp8b1	T	C	9: 121,744,300 (GRCm39)	E344G	probably damaging	Het
Dnah12	T	C	14: 26,607,869 (GRCm39)	F3801L	probably benign	Het
Dnhd1	A	G	7: 105,352,550 (GRCm39)	R2568G	possibly damaging	Het
Erbin	T	A	13: 103,970,570 (GRCm39)	E1015D	probably damaging	Het
Filip1l	A	G	16: 57,391,716 (GRCm39)	E768G	probably damaging	Het
H2ac13	C	T	13: 21,900,656 (GRCm39)	A22V	unknown	Het
Ildr1	G	A	16: 36,542,720 (GRCm39)	W417*	probably null	Het
Ildr1	G	T	16: 36,542,721 (GRCm39)	D418Y	probably damaging	Het
Kdsr	A	T	1: 106,671,583 (GRCm39)	M142K	probably damaging	Het
Ly75	T	C	2: 60,180,284 (GRCm39)	E631G	probably benign	Het
Muc13	G	A	16: 33,619,789 (GRCm39)	G179D	unknown	Het
Nebl	T	A	2: 17,457,363 (GRCm39)	T66S	probably benign	Het
Npsr1	T	A	9: 24,221,377 (GRCm39)	I277N	possibly damaging	Het
Or1j20	T	G	2: 36,760,352 (GRCm39)	I258S	probably damaging	Het
Or6c213	T	A	10: 129,573,910 (GRCm39)	N292I	probably damaging	Het
Pcdha11	T	A	18: 37,139,212 (GRCm39)	Y280*	probably null	Het
Pitrm1	T	C	13: 6,599,696 (GRCm39)	I46T	probably benign	Het
Plxnc1	A	G	10: 94,637,352 (GRCm39)	V1308A	possibly damaging	Het
Ppp1r9a	T	C	6: 5,143,491 (GRCm39)		probably null	Het
Ptgdr	A	G	14: 45,096,379 (GRCm39)	M111T	probably damaging	Het
Rab3gap1	A	G	1: 127,866,370 (GRCm39)	K850R	probably benign	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Smtnl2	T	A	11: 72,293,993 (GRCm39)	M188L	probably benign	Het
Snip1	G	A	4: 124,960,618 (GRCm39)	V25M	probably damaging	Het
Spock3	A	C	8: 63,808,345 (GRCm39)	D411A	unknown	Het
Sptbn4	C	T	7: 27,071,721 (GRCm39)	R1581H	probably damaging	Het
Stard13	A	G	5: 150,965,627 (GRCm39)	S1080P	probably benign	Het
Svep1	A	T	4: 58,070,566 (GRCm39)	C2407S	possibly damaging	Het
Tanc1	T	C	2: 59,636,651 (GRCm39)	S845P	probably damaging	Het
Tnfsf13	T	C	11: 69,574,688 (GRCm39)	Y202C	probably damaging	Het
Top1	T	A	2: 160,559,374 (GRCm39)	C632*	probably null	Het
Tsr1	C	A	11: 74,791,096 (GRCm39)	T225K	probably benign	Het

Other mutations in Kidins220

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AAGCCATACCATTTTCCTACATGAC -3'
(R):5'- ACCCATCTATTACCTGTGAATACAC -3'

Sequencing Primer
(F):5'- AGGCTTAACACATGTTAATTGTCAG -3'
(R):5'- AGAACCTGCGTGGACTC -3'

Posted On

2020-09-02