Mutagenetix > Incidental Mutation

Incidental Mutation 'R2070:Slitrk5'

227084

Institutional Source

Beutler Lab

Gene Symbol

Slitrk5

Ensembl Gene

ENSMUSG00000033214

Gene Name

SLIT and NTRK-like family, member 5

Synonyms

2610019D03Rik

MMRRC Submission

040075-MU

Accession Numbers

Essential gene?

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

Stock #

R2070 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111912547-111920576 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111917621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 415 (Y415C)

Ref Sequence

ENSEMBL: ENSMUSP00000041499 (fasta)

Gene Model

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

AlphaFold

Q810B7

Predicted Effect

probably damaging
Transcript: ENSMUST00000042767
AA Change: Y415C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041499
Gene: ENSMUSG00000033214
AA Change: Y415C

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	G	11: 58,767,595 (GRCm39)	K31E	probably damaging	Het
Abcc10	G	C	17: 46,614,491 (GRCm39)	N1477K	probably benign	Het
Ablim2	G	A	5: 35,955,857 (GRCm39)	C24Y	probably damaging	Het
Ankle1	T	C	8: 71,861,988 (GRCm39)	F497S	probably damaging	Het
Armh3	G	T	19: 45,879,724 (GRCm39)	P543Q	probably damaging	Het
Ash1l	C	G	3: 88,873,510 (GRCm39)	P98A	probably damaging	Het
Atad5	A	T	11: 79,988,878 (GRCm39)		probably null	Het
B3gnt4	A	T	5: 123,649,433 (GRCm39)	H266L	probably benign	Het
Bmi1	A	G	2: 18,688,851 (GRCm39)	I207V	probably benign	Het
Bnip3l	A	G	14: 67,226,671 (GRCm39)	M174T	probably damaging	Het
Bora	T	C	14: 99,299,714 (GRCm39)	S229P	probably damaging	Het
Ccdc121	T	C	5: 31,644,727 (GRCm39)	V160A	possibly damaging	Het
Ccdc27	T	A	4: 154,126,270 (GRCm39)	N73I	unknown	Het
Cdc42bpg	T	A	19: 6,370,518 (GRCm39)	C1204S	probably damaging	Het
Cdsn	A	T	17: 35,865,591 (GRCm39)	D40V	probably damaging	Het
Cilp	T	A	9: 65,186,377 (GRCm39)	V824D	probably damaging	Het
Cmtr1	A	G	17: 29,913,757 (GRCm39)		probably null	Het
Cntnap1	A	G	11: 101,073,805 (GRCm39)	Y652C	probably damaging	Het
Col12a1	T	C	9: 79,554,978 (GRCm39)	I2033M	probably benign	Het
Cwh43	T	C	5: 73,578,860 (GRCm39)	L289P	probably damaging	Het
Ddhd1	T	C	14: 45,848,081 (GRCm39)	D529G	probably damaging	Het
Defb28	T	A	2: 152,362,064 (GRCm39)	S75T	probably benign	Het
Dennd2a	A	T	6: 39,442,053 (GRCm39)	V939D	probably damaging	Het
Dlg5	T	C	14: 24,186,703 (GRCm39)	R1866G	probably damaging	Het
Dsc1	C	T	18: 20,221,353 (GRCm39)		probably null	Het
Ecscr	T	G	18: 35,848,490 (GRCm39)	N184T	probably damaging	Het
Eif4ebp1	G	T	8: 27,763,372 (GRCm39)	R55L	probably damaging	Het
Eml1	G	T	12: 108,479,258 (GRCm39)	V344L	probably damaging	Het
Exoc2	G	T	13: 30,999,353 (GRCm39)	N901K	probably benign	Het
Fam161b	T	A	12: 84,403,202 (GRCm39)	I143F	probably benign	Het
Fam180a	A	G	6: 35,302,846 (GRCm39)	S2P	probably benign	Het
Fat3	T	A	9: 15,910,666 (GRCm39)	I1779F	probably benign	Het
Fat4	A	G	3: 39,064,804 (GRCm39)	K4920R	probably benign	Het
Fsip2	T	A	2: 82,806,699 (GRCm39)	V1006E	probably damaging	Het
Glcci1	A	G	6: 8,558,566 (GRCm39)	S30G	probably damaging	Het
Gm5414	A	T	15: 101,536,495 (GRCm39)	S43R	possibly damaging	Het
Hao1	T	C	2: 134,372,535 (GRCm39)	T158A	probably damaging	Het
Hic1	T	C	11: 75,059,885 (GRCm39)	H154R	possibly damaging	Het
Hmgxb3	T	C	18: 61,304,431 (GRCm39)	Y53C	probably damaging	Het
Ipmk	A	T	10: 71,208,579 (GRCm39)	K122*	probably null	Het
Jakmip2	T	C	18: 43,696,395 (GRCm39)	E518G	probably benign	Het
Kmt2e	A	G	5: 23,706,993 (GRCm39)	T1519A	probably benign	Het
Lfng	T	C	5: 140,598,350 (GRCm39)	I224T	possibly damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Map4k5	C	T	12: 69,863,111 (GRCm39)	V629I	probably damaging	Het
Med12l	A	G	3: 59,152,326 (GRCm39)	D1037G	probably damaging	Het
Morc1	C	T	16: 48,412,974 (GRCm39)	T705I	probably benign	Het
Mptx2	A	T	1: 173,102,145 (GRCm39)	Y181*	probably null	Het
Mrpl24	T	C	3: 87,830,374 (GRCm39)		probably null	Het
Myo5a	A	G	9: 75,089,266 (GRCm39)	E1132G	probably benign	Het
Nedd4l	T	G	18: 65,345,891 (GRCm39)	F814L	probably damaging	Het
Nmral1	T	A	16: 4,534,211 (GRCm39)	I77F	probably damaging	Het
Oit3	T	G	10: 59,266,835 (GRCm39)	I224L	probably benign	Het
Oxsm	A	G	14: 16,241,983 (GRCm38)	L262P	probably benign	Het
Pacs2	C	T	12: 113,024,731 (GRCm39)	T407I	probably damaging	Het
Pard6g	T	C	18: 80,160,940 (GRCm39)	I351T	probably benign	Het
Pdcl2	A	T	5: 76,472,838 (GRCm39)		probably null	Het
Pdzph1	T	C	17: 59,281,092 (GRCm39)	R397G	probably benign	Het
Phip	T	A	9: 82,757,352 (GRCm39)	I1607L	probably benign	Het
Plekhd1	C	A	12: 80,739,681 (GRCm39)	S10*	probably null	Het
Pramel24	T	G	4: 143,453,472 (GRCm39)	Y193*	probably null	Het
Prdm1	C	T	10: 44,317,408 (GRCm39)	D505N	possibly damaging	Het
Psmd13	T	C	7: 140,477,561 (GRCm39)	V320A	probably damaging	Het
Rbak	A	G	5: 143,162,339 (GRCm39)	L8P	probably damaging	Het
Rere	C	A	4: 150,699,047 (GRCm39)		probably benign	Het
Rint1	T	C	5: 24,015,927 (GRCm39)	S456P	possibly damaging	Het
Scn3a	T	C	2: 65,351,210 (GRCm39)	Q446R	possibly damaging	Het
Snrnp200	A	G	2: 127,054,323 (GRCm39)	E210G	possibly damaging	Het
Snrnp200	A	G	2: 127,079,803 (GRCm39)	T1891A	probably benign	Het
Sohlh2	A	G	3: 55,115,043 (GRCm39)	I343V	probably benign	Het
Spin1	T	C	13: 51,298,573 (GRCm39)		probably null	Het
St14	T	A	9: 31,002,669 (GRCm39)	I745F	probably damaging	Het
Sv2a	G	A	3: 96,101,191 (GRCm39)	A730T	possibly damaging	Het
Tars2	C	A	3: 95,654,950 (GRCm39)	G113C	probably damaging	Het
Tlcd3b	T	C	7: 126,419,012 (GRCm39)	L4P	probably benign	Het
Trp53	A	G	11: 69,480,458 (GRCm39)	D278G	probably damaging	Het
Ubxn7	T	A	16: 32,191,287 (GRCm39)	C160S	possibly damaging	Het
Uty	T	C	Y: 1,169,193 (GRCm39)	E414G	probably benign	Het
Wrap73	T	A	4: 154,233,200 (GRCm39)	S125T	possibly damaging	Het
Wwc2	T	C	8: 48,321,356 (GRCm39)	D586G	unknown	Het
Zfp106	T	C	2: 120,354,010 (GRCm39)	H1490R	probably benign	Het
Zswim5	T	C	4: 116,837,109 (GRCm39)	V731A	probably benign	Het
Zyg11b	G	C	4: 108,108,016 (GRCm39)	N463K	possibly 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
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
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'- ACTTCTAGGCAGCCCTCTAAAG -3'
(R):5'- AGAATAATTCTGGGCTCAGCC -3'

Sequencing Primer
(F):5'- ACTTGGGCTACAGTAACTATGGCC -3'
(R):5'- GGCTCAGCCTCTCAATCCTG -3'

Posted On

2014-09-17