Incidental Mutation 'R0659:Slitrk5'
ID |
61802 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slitrk5
|
Ensembl Gene |
ENSMUSG00000033214 |
Gene Name |
SLIT and NTRK-like family, member 5 |
Synonyms |
2610019D03Rik |
MMRRC Submission |
038844-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.472)
|
Stock # |
R0659 (G1)
|
Quality Score |
84 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
111912547-111920576 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 111918121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 582
(K582E)
|
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: K582E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000041499 Gene: ENSMUSG00000033214 AA Change: K582E
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 |
0.1237 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.6%
|
Validation Efficiency |
99% (72/73) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
A |
G |
18: 59,140,565 (GRCm39) |
|
probably benign |
Het |
Ahnak |
A |
G |
19: 8,992,366 (GRCm39) |
H4550R |
possibly damaging |
Het |
Anxa6 |
A |
G |
11: 54,874,173 (GRCm39) |
V591A |
probably damaging |
Het |
Apol7c |
A |
G |
15: 77,410,473 (GRCm39) |
S158P |
probably damaging |
Het |
Asxl1 |
T |
A |
2: 153,242,644 (GRCm39) |
S1065T |
possibly damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,322,067 (GRCm39) |
|
probably benign |
Het |
Cd109 |
T |
C |
9: 78,587,452 (GRCm39) |
|
probably benign |
Het |
Cep78 |
C |
T |
19: 15,933,554 (GRCm39) |
V675M |
probably damaging |
Het |
Ces4a |
T |
C |
8: 105,871,554 (GRCm39) |
|
probably benign |
Het |
Chpf |
A |
G |
1: 75,454,367 (GRCm39) |
V137A |
probably damaging |
Het |
Comp |
T |
C |
8: 70,831,751 (GRCm39) |
S457P |
possibly damaging |
Het |
Cth |
A |
G |
3: 157,625,752 (GRCm39) |
|
probably benign |
Het |
Cyp2a12 |
T |
C |
7: 26,733,563 (GRCm39) |
L314P |
probably damaging |
Het |
Ets1 |
C |
T |
9: 32,649,589 (GRCm39) |
R309C |
probably damaging |
Het |
Foxp2 |
T |
C |
6: 15,254,278 (GRCm39) |
|
probably benign |
Het |
Gm9875 |
T |
G |
2: 13,562,995 (GRCm39) |
F108V |
unknown |
Het |
Golga5 |
G |
T |
12: 102,442,467 (GRCm39) |
V269F |
possibly damaging |
Het |
Greb1 |
T |
C |
12: 16,730,213 (GRCm39) |
Y1738C |
probably damaging |
Het |
Grin2a |
G |
T |
16: 9,810,336 (GRCm39) |
P21Q |
probably damaging |
Het |
Hdac5 |
A |
T |
11: 102,086,850 (GRCm39) |
V70E |
probably damaging |
Het |
Hdac9 |
T |
C |
12: 34,487,221 (GRCm39) |
Q60R |
probably damaging |
Het |
Hsd17b3 |
T |
C |
13: 64,221,750 (GRCm39) |
T92A |
possibly damaging |
Het |
Itpk1 |
C |
T |
12: 102,572,337 (GRCm39) |
|
probably benign |
Het |
Lin28a |
T |
C |
4: 133,735,410 (GRCm39) |
|
probably benign |
Het |
Mapk6 |
T |
C |
9: 75,305,244 (GRCm39) |
S58G |
probably damaging |
Het |
Mmp21 |
G |
A |
7: 133,279,396 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
Mroh2a |
G |
A |
1: 88,178,064 (GRCm39) |
D1053N |
probably damaging |
Het |
Msh3 |
T |
C |
13: 92,481,604 (GRCm39) |
N303D |
possibly damaging |
Het |
Mto1 |
T |
A |
9: 78,364,790 (GRCm39) |
I343N |
probably damaging |
Het |
Mto1 |
C |
T |
9: 78,378,072 (GRCm39) |
T638M |
probably damaging |
Het |
Myo18b |
T |
C |
5: 112,908,193 (GRCm39) |
K2027E |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,703,545 (GRCm39) |
|
probably benign |
Het |
Nlrp9a |
T |
C |
7: 26,256,703 (GRCm39) |
I107T |
probably damaging |
Het |
Or5k17 |
C |
A |
16: 58,746,772 (GRCm39) |
R54L |
possibly damaging |
Het |
Or8g37 |
T |
G |
9: 39,731,112 (GRCm39) |
M59R |
possibly damaging |
Het |
Osbpl5 |
A |
G |
7: 143,258,767 (GRCm39) |
S268P |
probably damaging |
Het |
Pih1d1 |
T |
A |
7: 44,809,399 (GRCm39) |
S289T |
probably benign |
Het |
Pik3c2b |
A |
G |
1: 132,998,938 (GRCm39) |
D353G |
probably damaging |
Het |
Ppef2 |
A |
G |
5: 92,378,368 (GRCm39) |
L609P |
probably damaging |
Het |
Prune2 |
A |
T |
19: 17,100,199 (GRCm39) |
D1901V |
probably damaging |
Het |
Rdh9 |
T |
C |
10: 127,612,444 (GRCm39) |
Y31H |
possibly damaging |
Het |
Slc5a9 |
T |
A |
4: 111,741,068 (GRCm39) |
Y526F |
possibly damaging |
Het |
Sult1c2 |
A |
T |
17: 54,138,806 (GRCm39) |
M257K |
probably damaging |
Het |
Tasor2 |
T |
C |
13: 3,624,448 (GRCm39) |
D1834G |
probably damaging |
Het |
Tmem132d |
A |
G |
5: 128,061,351 (GRCm39) |
I417T |
possibly damaging |
Het |
Tmem229b |
T |
C |
12: 79,011,908 (GRCm39) |
T8A |
probably benign |
Het |
Tmem237 |
T |
C |
1: 59,153,253 (GRCm39) |
I89M |
possibly damaging |
Het |
Tnfrsf17 |
A |
T |
16: 11,137,683 (GRCm39) |
D140V |
probably damaging |
Het |
Tnrc6b |
T |
A |
15: 80,807,647 (GRCm39) |
|
probably benign |
Het |
Trio |
A |
G |
15: 27,831,485 (GRCm39) |
L194P |
probably damaging |
Het |
Vmn2r74 |
T |
C |
7: 85,605,122 (GRCm39) |
|
probably benign |
Het |
Vps13c |
T |
A |
9: 67,828,217 (GRCm39) |
M1457K |
probably benign |
Het |
Zfhx2 |
A |
G |
14: 55,311,258 (GRCm39) |
C479R |
possibly damaging |
Het |
Zfp420 |
T |
A |
7: 29,574,964 (GRCm39) |
C395S |
probably damaging |
Het |
Zfp740 |
A |
G |
15: 102,121,094 (GRCm39) |
T136A |
possibly damaging |
Het |
Zfp82 |
C |
T |
7: 29,755,754 (GRCm39) |
E443K |
probably damaging |
Het |
Zranb2 |
A |
G |
3: 157,247,400 (GRCm39) |
S193G |
probably benign |
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 |
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 |
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'- TGAACCTGAGGGGTAACAGCTTCAC -3'
(R):5'- GCTGCCACAAAGACGGACATGATG -3'
Sequencing Primer
(F):5'- ACTTCCTTGCCAGTGAGTG -3'
(R):5'- GGGTCCCAGTGCTATTCAAC -3'
|
Posted On |
2013-07-30 |