Mutagenetix > Incidental Mutation

Incidental Mutation 'R5237:Slitrk5'

398573

Institutional Source

Beutler Lab

Gene Symbol

Slitrk5

Ensembl Gene

ENSMUSG00000033214

Gene Name

SLIT and NTRK-like family, member 5

Synonyms

2610019D03Rik

MMRRC Submission

042808-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.472) question?

Stock #

R5237 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111912547-111920576 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111919118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 914 (V914E)

Ref Sequence

ENSEMBL: ENSMUSP00000041499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042767] [ENSMUST00000227891]

AlphaFold

Q810B7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042767
AA Change: V914E

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041499
Gene: ENSMUSG00000033214
AA Change: V914E

Domain	Start	End	E-Value	Type
Blast:LRRNT	47	85	3e-18	BLAST
low complexity region	86	96	N/A	INTRINSIC
LRR	108	127	2.76e2	SMART
LRR_TYP	128	151	1.67e-2	SMART
LRR	152	175	2.67e-1	SMART
LRR	176	199	1.08e-1	SMART
LRR	202	223	7.38e1	SMART
LRRCT	235	285	2.13e-5	SMART
low complexity region	308	323	N/A	INTRINSIC
LRRNT	373	410	9.53e-2	SMART
LRR	433	455	1.45e1	SMART
LRR_TYP	456	479	4.94e-5	SMART
LRR_TYP	480	503	7.78e-3	SMART
LRR_TYP	504	527	2.43e-4	SMART
LRR	528	551	1.86e2	SMART
LRRCT	563	613	3.59e-3	SMART
low complexity region	618	632	N/A	INTRINSIC
transmembrane domain	666	688	N/A	INTRINSIC
low complexity region	794	816	N/A	INTRINSIC
low complexity region	818	823	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000227891

Meta Mutation Damage Score

0.1775

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

100% (76/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the SLITRK family, such as SLITRK5, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK5, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele have abnormal medium spiny neuron morphology and exhibit behavioral abnormalities. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,349,850 (GRCm39)	W369*	probably null	Het
Adamts3	A	T	5: 89,923,236 (GRCm39)	M190K	probably benign	Het
Adamtsl1	T	C	4: 86,303,906 (GRCm39)		probably null	Het
Adcy1	A	T	11: 7,099,553 (GRCm39)	I678L	probably benign	Het
Agtrap	A	G	4: 148,166,817 (GRCm39)	S27P	probably benign	Het
Ankrd24	C	A	10: 81,478,379 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,296,844 (GRCm39)	V383L	probably benign	Het
Ccdc40	T	C	11: 119,150,802 (GRCm39)	V1105A	probably benign	Het
Cenpf	A	T	1: 189,391,730 (GRCm39)	S684T	probably benign	Het
Cog7	A	G	7: 121,550,444 (GRCm39)	L360P	probably damaging	Het
Col12a1	T	A	9: 79,607,544 (GRCm39)	Q428L	probably benign	Het
Col4a1	G	A	8: 11,295,068 (GRCm39)		probably benign	Het
Cpeb2	G	A	5: 43,443,099 (GRCm39)	C930Y	probably damaging	Het
Cul9	T	C	17: 46,854,393 (GRCm39)	D103G	probably benign	Het
Cyb5a	T	G	18: 84,889,689 (GRCm39)	F39L	probably damaging	Het
Cyp2d12	T	A	15: 82,442,207 (GRCm39)		probably null	Het
Dnah7a	A	C	1: 53,486,690 (GRCm39)		probably null	Het
Efcab9	A	T	11: 32,472,832 (GRCm39)	I205K	probably benign	Het
Ezh1	A	G	11: 101,107,819 (GRCm39)		probably null	Het
Galnt6	C	A	15: 100,591,274 (GRCm39)	C610F	probably damaging	Het
Gata4	C	T	14: 63,478,075 (GRCm39)	A175T	probably benign	Het
Gcc1	A	T	6: 28,420,651 (GRCm39)	I222K	probably benign	Het
Gm5591	T	A	7: 38,221,631 (GRCm39)	H146L	probably benign	Het
H2-T23	C	T	17: 36,341,258 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,304,728 (GRCm39)	I3124N	probably benign	Het
Hsf2	C	A	10: 57,382,317 (GRCm39)	D364E	probably benign	Het
Il15ra	A	G	2: 11,738,016 (GRCm39)	T250A	possibly damaging	Het
Large2	T	C	2: 92,197,487 (GRCm39)	E372G	probably benign	Het
Map2	A	G	1: 66,478,169 (GRCm39)		probably benign	Het
Med24	T	C	11: 98,601,609 (GRCm39)	Y524C	probably damaging	Het
Mfsd6l	C	A	11: 68,448,096 (GRCm39)	Q316K	probably benign	Het
Mroh6	T	C	15: 75,757,840 (GRCm39)	T417A	possibly damaging	Het
Mymk	T	C	2: 26,952,200 (GRCm39)	*181W	probably null	Het
Nup210l	A	G	3: 90,087,505 (GRCm39)	T1093A	probably benign	Het
Or10al4	T	A	17: 38,037,268 (GRCm39)	C118S	probably damaging	Het
Or10p1	A	G	10: 129,443,732 (GRCm39)	V206A	probably benign	Het
Or52w1	A	T	7: 105,018,513 (GRCm39)	K327*	probably null	Het
Or8b54	C	T	9: 38,687,252 (GRCm39)	R234W	probably damaging	Het
Papola	T	C	12: 105,793,219 (GRCm39)	V513A	probably benign	Het
Pex26	T	A	6: 121,162,806 (GRCm39)	L119Q	probably damaging	Het
Phldb2	T	C	16: 45,568,249 (GRCm39)	I1219V	probably damaging	Het
Plch2	A	G	4: 155,095,251 (GRCm39)	V64A	probably benign	Het
Plekho1	A	G	3: 95,902,937 (GRCm39)	V24A	probably damaging	Het
Pon2	A	C	6: 5,265,455 (GRCm39)	S311A	probably benign	Het
Pramel31	G	T	4: 144,089,041 (GRCm39)	E120*	probably null	Het
Rsrc2	T	C	5: 123,877,645 (GRCm39)		probably benign	Het
Selenov	T	C	7: 27,987,572 (GRCm39)	D295G	probably damaging	Het
Serpina10	T	A	12: 103,595,075 (GRCm39)	Y48F	probably benign	Het
Setbp1	T	A	18: 78,900,190 (GRCm39)	D1159V	possibly damaging	Het
Setx	C	T	2: 29,036,995 (GRCm39)	T1160I	probably benign	Het
Sin3b	A	C	8: 73,459,971 (GRCm39)		probably null	Het
Skint11	A	G	4: 114,102,042 (GRCm39)	K352E	possibly damaging	Het
Srgap1	A	G	10: 121,643,788 (GRCm39)	Y633H	probably damaging	Het
Stard9	A	G	2: 120,529,839 (GRCm39)	D2032G	probably damaging	Het
Sv2c	G	A	13: 96,118,391 (GRCm39)	T486I	possibly damaging	Het
Tesk1	T	C	4: 43,447,100 (GRCm39)	F496S	probably damaging	Het
Tfg	T	A	16: 56,533,071 (GRCm39)	E29D	possibly damaging	Het
Tnc	G	A	4: 63,880,333 (GRCm39)	T2038I	probably damaging	Het
Tor4a	T	G	2: 25,084,976 (GRCm39)	N309T	probably damaging	Het
Trim69	A	G	2: 122,003,821 (GRCm39)	T257A	probably benign	Het
Trpm6	C	T	19: 18,790,828 (GRCm39)	A621V	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn1r6	A	C	6: 56,980,179 (GRCm39)	Q258H	probably damaging	Het
Vmn2r84	A	G	10: 130,221,863 (GRCm39)	C786R	probably damaging	Het
Xylt2	T	C	11: 94,557,953 (GRCm39)	D638G	probably benign	Het
Zfp934	A	G	13: 62,665,652 (GRCm39)	C330R	probably damaging	Het

Other mutations in Slitrk5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Slitrk5	APN	14	111,918,097 (GRCm39)	missense	probably benign	0.05
IGL01624:Slitrk5	APN	14	111,918,526 (GRCm39)	missense	probably damaging	1.00
IGL01680:Slitrk5	APN	14	111,916,432 (GRCm39)	missense	probably benign	0.23
IGL03234:Slitrk5	APN	14	111,916,717 (GRCm39)	missense	probably benign	0.00
P0019:Slitrk5	UTSW	14	111,918,026 (GRCm39)	missense	possibly damaging	0.88
R0323:Slitrk5	UTSW	14	111,919,055 (GRCm39)	missense	probably damaging	0.99
R0334:Slitrk5	UTSW	14	111,918,256 (GRCm39)	missense	probably benign
R0392:Slitrk5	UTSW	14	111,916,465 (GRCm39)	missense	probably benign	0.06
R0659:Slitrk5	UTSW	14	111,918,121 (GRCm39)	missense	probably benign	0.00
R1344:Slitrk5	UTSW	14	111,917,821 (GRCm39)	missense	probably benign	0.04
R1754:Slitrk5	UTSW	14	111,917,951 (GRCm39)	missense	probably damaging	1.00
R1983:Slitrk5	UTSW	14	111,917,821 (GRCm39)	missense	probably benign	0.04
R2070:Slitrk5	UTSW	14	111,917,621 (GRCm39)	missense	probably damaging	0.99
R2071:Slitrk5	UTSW	14	111,917,621 (GRCm39)	missense	probably damaging	0.99
R3001:Slitrk5	UTSW	14	111,917,014 (GRCm39)	missense	probably damaging	1.00
R3002:Slitrk5	UTSW	14	111,917,014 (GRCm39)	missense	probably damaging	1.00
R3003:Slitrk5	UTSW	14	111,917,014 (GRCm39)	missense	probably damaging	1.00
R3885:Slitrk5	UTSW	14	111,917,229 (GRCm39)	nonsense	probably null
R3886:Slitrk5	UTSW	14	111,917,229 (GRCm39)	nonsense	probably null
R3888:Slitrk5	UTSW	14	111,917,229 (GRCm39)	nonsense	probably null
R4962:Slitrk5	UTSW	14	111,918,679 (GRCm39)	missense	probably benign	0.02
R4999:Slitrk5	UTSW	14	111,917,648 (GRCm39)	missense	probably damaging	0.99
R5036:Slitrk5	UTSW	14	111,918,316 (GRCm39)	missense	possibly damaging	0.87
R5190:Slitrk5	UTSW	14	111,916,852 (GRCm39)	missense	probably damaging	1.00
R5669:Slitrk5	UTSW	14	111,919,055 (GRCm39)	missense	probably damaging	0.99
R5793:Slitrk5	UTSW	14	111,917,345 (GRCm39)	missense	probably damaging	1.00
R5839:Slitrk5	UTSW	14	111,917,030 (GRCm39)	missense	probably benign	0.00
R6083:Slitrk5	UTSW	14	111,919,157 (GRCm39)	missense	probably benign	0.01
R6224:Slitrk5	UTSW	14	111,917,248 (GRCm39)	unclassified	probably benign
R6225:Slitrk5	UTSW	14	111,917,248 (GRCm39)	unclassified	probably benign
R6230:Slitrk5	UTSW	14	111,917,248 (GRCm39)	unclassified	probably benign
R6337:Slitrk5	UTSW	14	111,917,684 (GRCm39)	missense	probably damaging	0.96
R6666:Slitrk5	UTSW	14	111,917,534 (GRCm39)	missense	probably damaging	0.96
R6818:Slitrk5	UTSW	14	111,917,726 (GRCm39)	missense	probably benign	0.32
R6895:Slitrk5	UTSW	14	111,919,085 (GRCm39)	missense	probably damaging	1.00
R7094:Slitrk5	UTSW	14	111,918,268 (GRCm39)	missense	probably benign	0.02
R7385:Slitrk5	UTSW	14	111,918,131 (GRCm39)	missense	probably benign	0.32
R8532:Slitrk5	UTSW	14	111,916,909 (GRCm39)	missense	probably benign
R8994:Slitrk5	UTSW	14	111,918,227 (GRCm39)	missense	probably benign	0.00
R9344:Slitrk5	UTSW	14	111,916,702 (GRCm39)	missense	probably damaging	0.97
R9374:Slitrk5	UTSW	14	111,916,496 (GRCm39)	missense	probably benign	0.23
R9499:Slitrk5	UTSW	14	111,916,496 (GRCm39)	missense	probably benign	0.23
R9500:Slitrk5	UTSW	14	111,916,726 (GRCm39)	missense	possibly damaging	0.89
R9512:Slitrk5	UTSW	14	111,917,252 (GRCm39)	missense	probably damaging	1.00
R9552:Slitrk5	UTSW	14	111,916,496 (GRCm39)	missense	probably benign	0.23
Z1177:Slitrk5	UTSW	14	111,917,285 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- CGCTGATCGCTTTTACAGGG -3'
(R):5'- AATGGGTTCACCGAGTGTGTC -3'

Sequencing Primer
(F):5'- TACAGGGGCATTTTAGAGCC -3'
(R):5'- CACCGAGTGTGTCTGCTTGC -3'

Posted On

2016-07-06