Mutagenetix > Incidental Mutation

Incidental Mutation 'R6083:Slitrk5'

482331

Institutional Source

Beutler Lab

Gene Symbol

Slitrk5

Ensembl Gene

ENSMUSG00000033214

Gene Name

SLIT and NTRK-like family, member 5

Synonyms

2610019D03Rik

MMRRC Submission

044242-MU

Accession Numbers

Essential gene?

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

Stock #

R6083 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111912547-111920576 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111919157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 927 (N927S)

Ref Sequence

ENSEMBL: ENSMUSP00000041499 (fasta)

Gene Model

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

AlphaFold

Q810B7

Predicted Effect

probably benign
Transcript: ENSMUST00000042767
AA Change: N927S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000041499
Gene: ENSMUSG00000033214
AA Change: N927S

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

0.0816

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

96% (76/79)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	A	11: 58,769,677 (GRCm39)	P73Q	possibly damaging	Het
Aak1	A	T	6: 86,940,978 (GRCm39)	I591F	unknown	Het
Ace	C	A	11: 105,876,093 (GRCm39)	Y816*	probably null	Het
Ahnak2	A	G	12: 112,746,715 (GRCm39)	V1205A	probably benign	Het
Ahnak2	T	G	12: 112,746,589 (GRCm39)	Q1076P	probably benign	Het
Ap2a1	G	A	7: 44,557,175 (GRCm39)	R263W	probably damaging	Het
Arhgap29	A	G	3: 121,786,397 (GRCm39)	T257A	probably benign	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Ccdc17	A	T	4: 116,454,123 (GRCm39)	Q47L	possibly damaging	Het
Cep170	C	T	1: 176,602,191 (GRCm39)	R305H	probably damaging	Het
Cyb5r4	C	T	9: 86,939,221 (GRCm39)	P335S	probably damaging	Het
Cyp2c54	A	G	19: 40,062,206 (GRCm39)	L17P	probably benign	Het
Cyp2c69	A	T	19: 39,837,900 (GRCm39)	V394E	probably damaging	Het
Dedd2	G	A	7: 24,910,715 (GRCm39)	P154S	probably benign	Het
Defb36	A	T	2: 152,446,408 (GRCm39)	M1L	unknown	Het
Dnaja1	A	G	4: 40,731,713 (GRCm39)	D263G	probably benign	Het
Dock10	T	C	1: 80,510,148 (GRCm39)	N1560S	probably damaging	Het
Efnb2	T	C	8: 8,672,328 (GRCm39)		probably null	Het
Eif3e	A	G	15: 43,129,540 (GRCm39)	I196T	probably damaging	Het
Ercc4	T	A	16: 12,927,903 (GRCm39)	C24*	probably null	Het
Fmn1	A	G	2: 113,194,648 (GRCm39)	E116G	unknown	Het
Gnas	A	G	2: 174,139,655 (GRCm39)	M1V	probably null	Het
Grin2a	C	A	16: 9,397,404 (GRCm39)	M894I	probably benign	Het
Herc2	G	T	7: 55,878,253 (GRCm39)	S4566I	probably benign	Het
Hmcn1	G	A	1: 150,631,044 (GRCm39)	P918L	probably damaging	Het
Hmcn1	G	T	1: 150,631,045 (GRCm39)	P918T	probably damaging	Het
Hsd3b2	T	A	3: 98,619,372 (GRCm39)	Y191F	possibly damaging	Het
Ifit1bl2	A	C	19: 34,597,217 (GRCm39)	F133C	possibly damaging	Het
Itih2	T	C	2: 10,113,705 (GRCm39)		probably benign	Het
Itsn1	T	C	16: 91,649,899 (GRCm39)	L191P	probably benign	Het
Kdr	T	C	5: 76,105,026 (GRCm39)	K1068R	probably damaging	Het
Lmtk2	T	C	5: 144,119,574 (GRCm39)	L1345P	probably damaging	Het
Man2b2	T	A	5: 36,966,385 (GRCm39)	D936V	probably damaging	Het
Mapk1ip1	G	A	7: 138,438,317 (GRCm39)	R38*	probably null	Het
Med13l	T	C	5: 118,859,551 (GRCm39)	V246A	possibly damaging	Het
Mlec	T	A	5: 115,286,108 (GRCm39)	T248S	probably benign	Het
Mslnl	T	A	17: 25,956,876 (GRCm39)	V54D	possibly damaging	Het
Muc16	G	A	9: 18,568,508 (GRCm39)	T1337I	unknown	Het
Nek7	C	T	1: 138,443,392 (GRCm39)	S187N	probably damaging	Het
Neto2	A	G	8: 86,367,214 (GRCm39)	V538A	probably benign	Het
Nktr	T	C	9: 121,579,202 (GRCm39)		probably benign	Het
Npy6r	A	G	18: 44,409,559 (GRCm39)	K327E	probably damaging	Het
Or2ag1	A	G	7: 106,472,789 (GRCm39)	I221T	probably damaging	Het
Or3a1c	A	G	11: 74,046,396 (GRCm39)	M139V	possibly damaging	Het
Or4a72	T	C	2: 89,406,016 (GRCm39)	D18G	probably benign	Het
Or4c123	T	A	2: 89,127,368 (GRCm39)	D82V	probably damaging	Het
Or5b109	A	T	19: 13,211,889 (GRCm39)	I92F	probably benign	Het
Pcdhga4	A	T	18: 37,820,478 (GRCm39)	N676Y	probably damaging	Het
Pde2a	T	C	7: 101,152,086 (GRCm39)	I331T	possibly damaging	Het
Pip5k1b	A	T	19: 24,281,399 (GRCm39)	Y486*	probably null	Het
Plch2	A	G	4: 155,085,275 (GRCm39)	M272T	probably benign	Het
Rbm12	G	A	2: 155,939,646 (GRCm39)		probably benign	Het
Rgs19	T	C	2: 181,331,300 (GRCm39)	E111G	probably damaging	Het
Rhbdf1	T	C	11: 32,160,066 (GRCm39)	N145S	probably damaging	Het
Rnf4	T	A	5: 34,508,565 (GRCm39)		probably null	Het
Rpa1	T	C	11: 75,205,737 (GRCm39)	T207A	probably damaging	Het
Rufy4	A	C	1: 74,168,556 (GRCm39)	Q113P	probably damaging	Het
Sh3pxd2b	T	G	11: 32,372,985 (GRCm39)	S717R	probably benign	Het
Sin3a	A	T	9: 57,014,824 (GRCm39)	I682F	probably damaging	Het
Sipa1l2	A	T	8: 126,195,212 (GRCm39)	V842E	possibly damaging	Het
Slc5a4a	A	G	10: 75,983,431 (GRCm39)	I23V	unknown	Het
Smc6	A	G	12: 11,326,354 (GRCm39)	K117R	possibly damaging	Het
Sod2	G	A	17: 13,226,918 (GRCm39)		probably benign	Het
Stxbp1	A	G	2: 32,686,030 (GRCm39)	I567T	possibly damaging	Het
Tbkbp1	C	A	11: 97,038,206 (GRCm39)	L209F	probably damaging	Het
Tll1	G	T	8: 64,491,620 (GRCm39)		probably null	Het
Tmem38b	T	C	4: 53,840,765 (GRCm39)	L60S	probably damaging	Het
Trib1	G	A	15: 59,526,324 (GRCm39)	R298H	probably damaging	Het
Trim30b	A	G	7: 104,015,349 (GRCm39)	V13A	probably damaging	Het
Trip11	G	A	12: 101,856,001 (GRCm39)	T425I	probably benign	Het
Ttn	C	A	2: 76,720,317 (GRCm39)		probably benign	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Ush2a	T	A	1: 187,999,220 (GRCm39)	S177T	probably damaging	Het
Usp40	A	T	1: 87,906,281 (GRCm39)	S651R	probably benign	Het
Vmn1r125	T	C	7: 21,006,644 (GRCm39)	S181P	probably damaging	Het
Vmn1r198	T	A	13: 22,538,928 (GRCm39)	V138D	possibly damaging	Het
Vmn1r56	A	G	7: 5,199,317 (GRCm39)	L100P	probably damaging	Het
Vmn2r32	T	A	7: 7,467,209 (GRCm39)	D773V	probably benign	Het
Vmn2r53	A	C	7: 12,315,808 (GRCm39)	H670Q	probably benign	Het
Vmn2r69	A	T	7: 85,055,711 (GRCm39)	I809N	probably damaging	Het
Wdr7	G	A	18: 63,861,540 (GRCm39)	G184D	probably damaging	Het
Wnk1	C	T	6: 120,014,562 (GRCm39)	G11D	probably damaging	Het
Zfp110	A	C	7: 12,578,602 (GRCm39)	E171A	possibly damaging	Het
Zkscan6	T	C	11: 65,706,757 (GRCm39)	V134A	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
R5237:Slitrk5	UTSW	14	111,919,118 (GRCm39)	missense	possibly damaging	0.94
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
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'- TGATCGCTTTTACAGGGGC -3'
(R):5'- TCAAATGGGTTCACCGAGTG -3'

Posted On

2017-07-14