Incidental Mutation 'R7094:Slitrk5'
| ID |
550381 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slitrk5
|
| Ensembl Gene |
ENSMUSG00000033214 |
| Gene Name |
SLIT and NTRK-like family, member 5 |
| Synonyms |
2610019D03Rik |
| MMRRC Submission |
045187-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.451)
|
| Stock # |
R7094 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
111912547-111920576 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 111918268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 631
(P631S)
|
| 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: P631S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000041499
Gene: ENSMUSG00000033214
AA Change: P631S
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (59/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,248,610 (GRCm39) |
I2786F |
probably damaging |
Het |
| Actl6a |
A |
T |
3: 32,760,487 (GRCm39) |
|
probably benign |
Het |
| Actn2 |
A |
G |
13: 12,324,543 (GRCm39) |
V100A |
probably damaging |
Het |
| Arfgef3 |
G |
T |
10: 18,522,187 (GRCm39) |
A613E |
probably damaging |
Het |
| Atf6b |
G |
A |
17: 34,872,790 (GRCm39) |
|
probably null |
Het |
| Bub1 |
T |
A |
2: 127,663,681 (GRCm39) |
E240V |
probably null |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Ccdc141 |
C |
A |
2: 76,871,797 (GRCm39) |
R829L |
possibly damaging |
Het |
| Ccdc85c |
GCCGCCGCCGCCAGCGCCCCCCGCCGCCGCCAGCGCC |
GCCGCCGCCGCCAGCGCC |
12: 108,240,877 (GRCm39) |
|
probably null |
Het |
| Cd209g |
T |
C |
8: 4,186,790 (GRCm39) |
F112L |
possibly damaging |
Het |
| Cebpe |
C |
T |
14: 54,948,060 (GRCm39) |
R261H |
probably damaging |
Het |
| Cfap100 |
T |
C |
6: 90,390,436 (GRCm39) |
E68G |
|
Het |
| Chd9 |
A |
G |
8: 91,716,189 (GRCm39) |
N921S |
unknown |
Het |
| Chil6 |
T |
C |
3: 106,311,486 (GRCm39) |
N98S |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,761,333 (GRCm39) |
K734E |
probably benign |
Het |
| Cracd |
C |
T |
5: 77,006,879 (GRCm39) |
P1080L |
unknown |
Het |
| Cyp11b2 |
A |
G |
15: 74,725,507 (GRCm39) |
F204S |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,453,482 (GRCm39) |
T4418A |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,077,184 (GRCm39) |
V649A |
probably benign |
Het |
| Ergic3 |
G |
A |
2: 155,858,683 (GRCm39) |
V270M |
possibly damaging |
Het |
| Eva1a |
C |
T |
6: 82,069,024 (GRCm39) |
T117I |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,944,023 (GRCm39) |
G972D |
probably damaging |
Het |
| Gm14412 |
A |
T |
2: 177,009,138 (GRCm39) |
N39K |
probably damaging |
Het |
| Gm5565 |
T |
C |
5: 146,095,084 (GRCm39) |
T221A |
probably benign |
Het |
| Gnptab |
T |
G |
10: 88,215,366 (GRCm39) |
V29G |
possibly damaging |
Het |
| Grem2 |
T |
C |
1: 174,664,555 (GRCm39) |
Y98C |
probably damaging |
Het |
| Grik2 |
A |
T |
10: 49,232,012 (GRCm39) |
I506N |
possibly damaging |
Het |
| Has2 |
T |
A |
15: 56,545,017 (GRCm39) |
Y195F |
probably damaging |
Het |
| Kics2 |
A |
G |
10: 121,576,098 (GRCm39) |
Y73C |
possibly damaging |
Het |
| Lars2 |
T |
C |
9: 123,288,650 (GRCm39) |
L832P |
probably damaging |
Het |
| Lipo5 |
T |
A |
19: 33,446,249 (GRCm39) |
E49D |
probably damaging |
Het |
| Macc1 |
T |
A |
12: 119,414,126 (GRCm39) |
Y767* |
probably null |
Het |
| Map2 |
G |
T |
1: 66,451,886 (GRCm39) |
E259* |
probably null |
Het |
| Mcm9 |
T |
C |
10: 53,496,253 (GRCm39) |
D310G |
probably damaging |
Het |
| Mink1 |
C |
A |
11: 70,500,901 (GRCm39) |
|
probably null |
Het |
| Mtrr |
T |
C |
13: 68,727,803 (GRCm39) |
T48A |
possibly damaging |
Het |
| Nrsn1 |
A |
T |
13: 25,437,724 (GRCm39) |
I68N |
possibly damaging |
Het |
| Or1ab2 |
A |
T |
8: 72,863,347 (GRCm39) |
|
probably benign |
Het |
| Or4a71 |
A |
T |
2: 89,357,902 (GRCm39) |
I284K |
probably damaging |
Het |
| Or51f23b |
A |
G |
7: 102,402,305 (GRCm39) |
M277T |
probably benign |
Het |
| Or5p60 |
G |
T |
7: 107,723,840 (GRCm39) |
T210N |
probably benign |
Het |
| Or8k36-ps1 |
T |
C |
2: 86,437,672 (GRCm39) |
N81S |
unknown |
Het |
| Pcdh17 |
A |
G |
14: 84,684,835 (GRCm39) |
D434G |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,328,430 (GRCm39) |
|
probably null |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sez6l2 |
A |
G |
7: 126,552,096 (GRCm39) |
E121G |
probably damaging |
Het |
| Slc35e4 |
T |
C |
11: 3,863,118 (GRCm39) |
S24G |
probably benign |
Het |
| Slc39a2 |
G |
T |
14: 52,131,146 (GRCm39) |
|
probably benign |
Het |
| Taf2 |
A |
G |
15: 54,923,482 (GRCm39) |
V265A |
probably benign |
Het |
| Tas2r106 |
T |
C |
6: 131,655,542 (GRCm39) |
N103S |
probably benign |
Het |
| Tgm1 |
T |
C |
14: 55,942,300 (GRCm39) |
T684A |
possibly damaging |
Het |
| Tgm7 |
C |
T |
2: 120,929,489 (GRCm39) |
G262S |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 44,008,148 (GRCm39) |
S451T |
probably damaging |
Het |
| Trim15 |
T |
C |
17: 37,173,788 (GRCm39) |
Y240C |
probably benign |
Het |
| Trio |
A |
T |
15: 27,891,534 (GRCm39) |
C465S |
unknown |
Het |
| Ttc22 |
G |
A |
4: 106,493,104 (GRCm39) |
W250* |
probably null |
Het |
| Upb1 |
C |
A |
10: 75,274,042 (GRCm39) |
F356L |
probably damaging |
Het |
| Vmn2r99 |
T |
A |
17: 19,599,573 (GRCm39) |
M419K |
probably benign |
Het |
| Vstm2a |
G |
A |
11: 16,207,990 (GRCm39) |
|
probably benign |
Het |
| Zfp820 |
T |
C |
17: 22,038,246 (GRCm39) |
T361A |
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 |
|
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 |
|
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'- GATCTACATGACAACCCTTGGG -3'
(R):5'- CTCCGTTTCATGACCAGCAC -3'
Sequencing Primer
(F):5'- ATGACAACCCTTGGGATTGTACCTG -3'
(R):5'- ACGAAAAGGCCTGCTGC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation