Incidental Mutation 'R5669:Slitrk5'
| ID |
442536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slitrk5
|
| Ensembl Gene |
ENSMUSG00000033214 |
| Gene Name |
SLIT and NTRK-like family, member 5 |
| Synonyms |
2610019D03Rik |
| MMRRC Submission |
043312-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.451)
|
| Stock # |
R5669 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
111912547-111920576 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111919055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 893
(D893G)
|
| 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: D893G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041499
Gene: ENSMUSG00000033214
AA Change: D893G
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,100,540 (GRCm39) |
L2734* |
probably null |
Het |
| Aldh1a1 |
T |
C |
19: 20,588,284 (GRCm39) |
I25T |
probably damaging |
Het |
| Astl |
G |
T |
2: 127,189,199 (GRCm39) |
R175L |
probably damaging |
Het |
| BC035947 |
A |
T |
1: 78,474,550 (GRCm39) |
C661S |
probably damaging |
Het |
| Cd160 |
C |
T |
3: 96,716,214 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpb |
C |
T |
12: 111,268,447 (GRCm39) |
|
probably null |
Het |
| Cdip1 |
T |
A |
16: 4,586,679 (GRCm39) |
I149F |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,964,127 (GRCm39) |
Y607C |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,803,197 (GRCm39) |
I1256T |
unknown |
Het |
| Copb1 |
A |
G |
7: 113,836,820 (GRCm39) |
V336A |
probably damaging |
Het |
| Ddx42 |
A |
T |
11: 106,132,645 (GRCm39) |
D556V |
probably damaging |
Het |
| Dlk1 |
T |
C |
12: 109,425,964 (GRCm39) |
V279A |
probably benign |
Het |
| Fbll1 |
T |
C |
11: 35,688,411 (GRCm39) |
N284S |
probably benign |
Het |
| Fbxw21 |
A |
T |
9: 108,974,578 (GRCm39) |
I314N |
probably benign |
Het |
| Foxa3 |
T |
C |
7: 18,748,176 (GRCm39) |
T317A |
probably benign |
Het |
| Gpr37 |
A |
T |
6: 25,669,351 (GRCm39) |
C498S |
probably benign |
Het |
| Hapln3 |
G |
T |
7: 78,767,244 (GRCm39) |
|
probably null |
Het |
| Igkv4-54 |
A |
G |
6: 69,608,832 (GRCm39) |
V29A |
possibly damaging |
Het |
| Itgb8 |
T |
A |
12: 119,154,363 (GRCm39) |
I225F |
probably damaging |
Het |
| Kcnk3 |
A |
G |
5: 30,779,693 (GRCm39) |
T248A |
probably damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,977,648 (GRCm39) |
Q130R |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,001,050 (GRCm39) |
H2058R |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,370,018 (GRCm39) |
E1581V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,733,907 (GRCm39) |
N252D |
probably damaging |
Het |
| Nadsyn1 |
C |
T |
7: 143,361,168 (GRCm39) |
G335S |
probably damaging |
Het |
| Or10ag53 |
T |
C |
2: 87,082,785 (GRCm39) |
V168A |
probably benign |
Het |
| Or7e165 |
T |
C |
9: 19,695,053 (GRCm39) |
F208S |
probably benign |
Het |
| Pak5 |
G |
A |
2: 135,958,204 (GRCm39) |
P295S |
probably damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,278,221 (GRCm39) |
S595T |
probably benign |
Het |
| Pepd |
T |
C |
7: 34,740,099 (GRCm39) |
V324A |
probably benign |
Het |
| Pml |
C |
T |
9: 58,154,346 (GRCm39) |
D176N |
probably benign |
Het |
| Popdc3 |
T |
A |
10: 45,192,529 (GRCm39) |
I163N |
probably damaging |
Het |
| Ppp1r13l |
A |
C |
7: 19,106,947 (GRCm39) |
T481P |
probably benign |
Het |
| Pramel13 |
T |
C |
4: 144,122,413 (GRCm39) |
I44V |
probably benign |
Het |
| Prlh |
A |
G |
1: 90,880,842 (GRCm39) |
T5A |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,170,285 (GRCm39) |
F638S |
possibly damaging |
Het |
| Prpf8 |
T |
A |
11: 75,395,564 (GRCm39) |
L1897H |
probably damaging |
Het |
| Ret |
T |
C |
6: 118,161,204 (GRCm39) |
T91A |
probably benign |
Het |
| Retsat |
A |
G |
6: 72,582,993 (GRCm39) |
S176G |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,349,611 (GRCm39) |
L3823P |
possibly damaging |
Het |
| Rnf31 |
C |
T |
14: 55,834,161 (GRCm39) |
A653V |
probably damaging |
Het |
| Rps6kl1 |
T |
C |
12: 85,194,641 (GRCm39) |
D90G |
probably damaging |
Het |
| Scarb1 |
A |
G |
5: 125,377,451 (GRCm39) |
Y194H |
probably damaging |
Het |
| Scube2 |
C |
T |
7: 109,424,646 (GRCm39) |
A556T |
probably benign |
Het |
| Serpinb1a |
A |
G |
13: 33,029,299 (GRCm39) |
L243P |
probably damaging |
Het |
| Slc39a4 |
A |
C |
15: 76,498,363 (GRCm39) |
L358R |
probably damaging |
Het |
| Srgap1 |
C |
A |
10: 121,640,755 (GRCm39) |
V681L |
probably benign |
Het |
| Tmprss6 |
A |
T |
15: 78,339,156 (GRCm39) |
M262K |
possibly damaging |
Het |
| Ttf2 |
T |
A |
3: 100,858,433 (GRCm39) |
K719* |
probably null |
Het |
| Vmn1r62 |
T |
A |
7: 5,678,736 (GRCm39) |
L139* |
probably null |
Het |
| Zfp1004 |
A |
G |
2: 150,034,098 (GRCm39) |
I140V |
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 |
|
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 |
|
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'- AAGCCACCATTTGAGGAGCC -3'
(R):5'- CGCAAAAGCTCCAAGAGAGTTTC -3'
Sequencing Primer
(F):5'- ATTTGAGGAGCCCCGCCTAC -3'
(R):5'- AAATGTGGTCTGTTTTTCCAGCAC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation