Incidental Mutation 'R5793:Slitrk5'
| ID |
447093 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slitrk5
|
| Ensembl Gene |
ENSMUSG00000033214 |
| Gene Name |
SLIT and NTRK-like family, member 5 |
| Synonyms |
2610019D03Rik |
| MMRRC Submission |
043208-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.472)
|
| Stock # |
R5793 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
111912547-111920576 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111917345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 323
(V323D)
|
| 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: V323D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000041499
Gene: ENSMUSG00000033214
AA Change: V323D
| 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: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12 |
C |
A |
11: 70,133,879 (GRCm39) |
R522L |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,279,753 (GRCm39) |
D271E |
probably benign |
Het |
| Arg1 |
C |
T |
10: 24,796,540 (GRCm39) |
V96M |
probably benign |
Het |
| Axin1 |
T |
C |
17: 26,362,282 (GRCm39) |
S209P |
probably damaging |
Het |
| B4galnt3 |
A |
G |
6: 120,185,865 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
T |
A |
10: 60,141,907 (GRCm39) |
D3058V |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,728,384 (GRCm39) |
T794A |
probably damaging |
Het |
| Ckap5 |
C |
T |
2: 91,450,180 (GRCm39) |
T1891I |
possibly damaging |
Het |
| Cspg4b |
G |
T |
13: 113,457,556 (GRCm39) |
V1201L |
possibly damaging |
Het |
| Dzank1 |
T |
C |
2: 144,348,144 (GRCm39) |
I207M |
probably benign |
Het |
| Fkbp9 |
G |
A |
6: 56,850,498 (GRCm39) |
|
probably null |
Het |
| Gm4781 |
T |
A |
10: 100,232,529 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gtpbp6 |
G |
A |
5: 110,255,094 (GRCm39) |
L33F |
probably benign |
Het |
| Hsd11b1 |
A |
C |
1: 192,924,492 (GRCm39) |
F27V |
probably damaging |
Het |
| Ift172 |
A |
T |
5: 31,434,292 (GRCm39) |
I482N |
possibly damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,359,103 (GRCm39) |
|
probably null |
Het |
| Ly6g2 |
T |
C |
15: 75,093,493 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,653,077 (GRCm39) |
Q1420R |
probably benign |
Het |
| Ncam2 |
G |
A |
16: 81,372,991 (GRCm39) |
V569I |
possibly damaging |
Het |
| Nsd1 |
T |
C |
13: 55,395,819 (GRCm39) |
V1140A |
probably benign |
Het |
| Ogdhl |
T |
A |
14: 32,054,730 (GRCm39) |
L226Q |
probably damaging |
Het |
| Or51a24 |
T |
C |
7: 103,734,237 (GRCm39) |
T17A |
probably benign |
Het |
| Orc2 |
T |
C |
1: 58,536,547 (GRCm39) |
M1V |
probably null |
Het |
| Padi2 |
T |
C |
4: 140,660,501 (GRCm39) |
L327P |
probably benign |
Het |
| Palb2 |
T |
C |
7: 121,726,860 (GRCm39) |
N337D |
probably benign |
Het |
| Pard3b |
A |
T |
1: 61,807,132 (GRCm39) |
H49L |
probably damaging |
Het |
| Pigz |
T |
C |
16: 31,764,285 (GRCm39) |
S448P |
probably benign |
Het |
| Ppfia4 |
A |
G |
1: 134,239,844 (GRCm39) |
V911A |
probably damaging |
Het |
| Prr5 |
T |
A |
15: 84,656,223 (GRCm39) |
M408K |
probably benign |
Het |
| Qser1 |
T |
C |
2: 104,593,205 (GRCm39) |
Y1604C |
probably damaging |
Het |
| Rpgrip1l |
A |
G |
8: 91,987,400 (GRCm39) |
S886P |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,759,778 (GRCm39) |
I408V |
possibly damaging |
Het |
| Sema7a |
A |
T |
9: 57,867,540 (GRCm39) |
R431W |
probably damaging |
Het |
| Slc22a30 |
T |
A |
19: 8,314,183 (GRCm39) |
Y501F |
possibly damaging |
Het |
| Snap47 |
C |
T |
11: 59,329,018 (GRCm39) |
E95K |
probably damaging |
Het |
| Tbc1d9 |
A |
T |
8: 83,998,069 (GRCm39) |
I1209F |
probably damaging |
Het |
| Tek |
T |
A |
4: 94,708,333 (GRCm39) |
M297K |
probably benign |
Het |
| Tmem132e |
T |
A |
11: 82,335,684 (GRCm39) |
I922N |
probably damaging |
Het |
| Tmx2 |
T |
C |
2: 84,506,501 (GRCm39) |
R64G |
probably damaging |
Het |
| Trim68 |
A |
T |
7: 102,333,560 (GRCm39) |
S41T |
possibly damaging |
Het |
| Tsga10 |
A |
T |
1: 37,874,540 (GRCm39) |
M115K |
probably damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vmn2r84 |
C |
T |
10: 130,221,754 (GRCm39) |
C822Y |
probably damaging |
Het |
| Wdr72 |
C |
T |
9: 74,117,625 (GRCm39) |
A779V |
probably benign |
Het |
| Zfp580 |
A |
T |
7: 5,055,891 (GRCm39) |
|
probably benign |
Het |
| Zfp772 |
G |
A |
7: 7,207,283 (GRCm39) |
T136I |
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 |
|
R5669:Slitrk5
|
UTSW |
14 |
111,919,055 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- TGGTTGGACAGCATCTCCTAC -3'
(R):5'- AGGTTGCAAGTACATGCTGTAGG -3'
Sequencing Primer
(F):5'- GTTGGACAGCATCTCCTACTCAGC -3'
(R):5'- GCAAGTACATGCTGTAGGACATTCC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation