Incidental Mutation 'R5839:Slitrk5'
| ID |
449823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slitrk5
|
| Ensembl Gene |
ENSMUSG00000033214 |
| Gene Name |
SLIT and NTRK-like family, member 5 |
| Synonyms |
2610019D03Rik |
| MMRRC Submission |
044059-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.472)
|
| Stock # |
R5839 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
111912547-111920576 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111917030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 218
(V218A)
|
| 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: V218A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000041499
Gene: ENSMUSG00000033214
AA Change: V218A
| 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 |
0.0835 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
94% (62/66) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
A |
5: 8,186,861 (GRCm39) |
Y420F |
probably damaging |
Het |
| Adcy8 |
A |
G |
15: 64,588,031 (GRCm39) |
Y919H |
probably damaging |
Het |
| Afg2a |
A |
G |
3: 37,518,803 (GRCm39) |
D779G |
probably damaging |
Het |
| Ampd1 |
A |
T |
3: 102,992,744 (GRCm39) |
N162I |
possibly damaging |
Het |
| Arhgef15 |
G |
A |
11: 68,844,982 (GRCm39) |
A205V |
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,890,658 (GRCm39) |
K846E |
probably damaging |
Het |
| Azi2 |
C |
T |
9: 117,888,187 (GRCm39) |
T250I |
probably damaging |
Het |
| Btbd16 |
G |
A |
7: 130,417,538 (GRCm39) |
|
probably null |
Het |
| Ceacam16 |
T |
A |
7: 19,590,008 (GRCm39) |
K52* |
probably null |
Het |
| Cfap74 |
T |
C |
4: 155,507,207 (GRCm39) |
|
probably null |
Het |
| Cgn |
A |
C |
3: 94,681,703 (GRCm39) |
L464R |
probably damaging |
Het |
| Chpt1 |
T |
A |
10: 88,339,625 (GRCm39) |
H32L |
probably damaging |
Het |
| Clk1 |
G |
A |
1: 58,461,074 (GRCm39) |
T7I |
probably benign |
Het |
| Col6a5 |
C |
T |
9: 105,822,592 (GRCm39) |
|
probably null |
Het |
| Cpne4 |
C |
A |
9: 104,803,027 (GRCm39) |
R224S |
probably damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,267,623 (GRCm39) |
Y29C |
probably damaging |
Het |
| Ddx5 |
A |
G |
11: 106,673,032 (GRCm39) |
S498P |
probably damaging |
Het |
| Dgkg |
A |
G |
16: 22,385,244 (GRCm39) |
Y382H |
possibly damaging |
Het |
| Efemp1 |
A |
G |
11: 28,871,418 (GRCm39) |
E339G |
possibly damaging |
Het |
| Focad |
T |
A |
4: 88,115,083 (GRCm39) |
|
probably benign |
Het |
| Gabbr1 |
G |
A |
17: 37,378,760 (GRCm39) |
G650D |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,725,386 (GRCm39) |
S108G |
probably benign |
Het |
| Igkv8-28 |
T |
A |
6: 70,121,145 (GRCm39) |
M1L |
probably benign |
Het |
| Iqca1l |
T |
C |
5: 24,757,024 (GRCm39) |
K218E |
probably damaging |
Het |
| Kcnq2 |
T |
C |
2: 180,751,544 (GRCm39) |
Y284C |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,275,117 (GRCm39) |
F6299S |
probably damaging |
Het |
| Magi3 |
G |
A |
3: 104,127,047 (GRCm39) |
T79M |
probably damaging |
Het |
| Mdh2 |
T |
A |
5: 135,812,146 (GRCm39) |
|
probably null |
Het |
| Mgam |
A |
C |
6: 40,716,998 (GRCm39) |
N108T |
possibly damaging |
Het |
| N4bp3 |
A |
T |
11: 51,536,909 (GRCm39) |
F55I |
probably benign |
Het |
| Nasp |
C |
T |
4: 116,459,288 (GRCm39) |
|
probably null |
Het |
| Ncapg |
T |
A |
5: 45,829,620 (GRCm39) |
H107Q |
probably damaging |
Het |
| Ofcc1 |
T |
C |
13: 40,434,021 (GRCm39) |
K28R |
probably damaging |
Het |
| Opn1sw |
C |
T |
6: 29,379,829 (GRCm39) |
C135Y |
probably damaging |
Het |
| Pigo |
T |
C |
4: 43,022,104 (GRCm39) |
M346V |
probably damaging |
Het |
| Pkn2 |
A |
T |
3: 142,527,290 (GRCm39) |
D386E |
probably benign |
Het |
| Psd2 |
G |
T |
18: 36,140,577 (GRCm39) |
V617L |
probably damaging |
Het |
| Rab39 |
C |
T |
9: 53,617,387 (GRCm39) |
R10H |
probably damaging |
Het |
| Slc6a6 |
T |
A |
6: 91,700,298 (GRCm39) |
C9S |
probably damaging |
Het |
| Slc8a2 |
A |
T |
7: 15,868,412 (GRCm39) |
I215F |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,701,857 (GRCm39) |
V1045E |
probably damaging |
Het |
| Smoc1 |
T |
C |
12: 81,214,359 (GRCm39) |
I247T |
probably damaging |
Het |
| Snapc4 |
G |
C |
2: 26,255,546 (GRCm39) |
Q993E |
probably benign |
Het |
| Spidr |
A |
T |
16: 15,855,366 (GRCm39) |
I383N |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,708,555 (GRCm39) |
V219A |
probably damaging |
Het |
| Tas2r103 |
T |
C |
6: 133,013,779 (GRCm39) |
T96A |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,570,783 (GRCm39) |
E323G |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,284,272 (GRCm39) |
T938A |
possibly damaging |
Het |
| Tecta |
C |
T |
9: 42,242,319 (GRCm39) |
D2085N |
probably benign |
Het |
| Tekt2 |
T |
A |
4: 126,216,629 (GRCm39) |
E328V |
probably damaging |
Het |
| Tgfb1i1 |
A |
G |
7: 127,852,537 (GRCm39) |
*462W |
probably null |
Het |
| Tnip2 |
T |
C |
5: 34,653,976 (GRCm39) |
|
probably benign |
Het |
| Tpd52l2 |
G |
A |
2: 181,141,691 (GRCm39) |
V25I |
probably benign |
Het |
| Traj15 |
T |
A |
14: 54,441,926 (GRCm39) |
|
probably benign |
Het |
| Trpm8 |
A |
T |
1: 88,253,228 (GRCm39) |
I106F |
possibly damaging |
Het |
| Ttc22 |
T |
C |
4: 106,495,717 (GRCm39) |
L357P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,739,772 (GRCm39) |
H3589R |
probably benign |
Het |
| Vmn1r28 |
T |
A |
6: 58,242,280 (GRCm39) |
I41N |
possibly damaging |
Het |
| Wasf1 |
T |
A |
10: 40,812,315 (GRCm39) |
V368E |
unknown |
Het |
| Zeb1 |
A |
G |
18: 5,767,507 (GRCm39) |
M673V |
probably benign |
Het |
| Zfp799 |
T |
C |
17: 33,041,086 (GRCm39) |
D31G |
probably null |
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 |
|
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'- TTCTGCGAGATGATACCTTTCTTG -3'
(R):5'- TCCAAATCCCTGCCGTGTAG -3'
Sequencing Primer
(F):5'- TGGCTTGGAGAACTTAGAATACCTGC -3'
(R):5'- TGTAGACGGAAGGGGGTCTC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation