Incidental Mutation 'R5126:Lrtm2'
| ID |
393543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrtm2
|
| Ensembl Gene |
ENSMUSG00000055003 |
| Gene Name |
leucine-rich repeats and transmembrane domains 2 |
| Synonyms |
|
| MMRRC Submission |
042714-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R5126 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
119292094-119307727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119294400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 244
(M244L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126661
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037434]
[ENSMUST00000068351]
[ENSMUST00000112756]
[ENSMUST00000168793]
[ENSMUST00000186622]
|
| AlphaFold |
Q8BGX3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037434
|
| SMART Domains |
Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WNT1
|
79 |
144 |
1e-13 |
BLAST |
|
Pfam:VWA_N
|
155 |
271 |
7.3e-40 |
PFAM |
|
VWA
|
296 |
481 |
4.37e-14 |
SMART |
|
Pfam:Cache_1
|
494 |
586 |
1.1e-24 |
PFAM |
|
low complexity region
|
837 |
849 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
984 |
N/A |
INTRINSIC |
|
low complexity region
|
1000 |
1011 |
N/A |
INTRINSIC |
|
low complexity region
|
1120 |
1143 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068351
AA Change: M244L
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000063882
Gene: ENSMUSG00000055003
AA Change: M244L
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
38 |
72 |
5.22e-8 |
SMART |
|
LRR
|
71 |
90 |
1.58e2 |
SMART |
|
LRR_TYP
|
91 |
114 |
2.43e-4 |
SMART |
|
LRR_TYP
|
115 |
138 |
7.78e-3 |
SMART |
|
LRR
|
140 |
162 |
5.72e-1 |
SMART |
|
LRR
|
163 |
186 |
3.78e-1 |
SMART |
|
LRRCT
|
198 |
251 |
3.1e-7 |
SMART |
|
low complexity region
|
271 |
290 |
N/A |
INTRINSIC |
|
transmembrane domain
|
312 |
334 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112756
AA Change: M244L
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000108376
Gene: ENSMUSG00000055003
AA Change: M244L
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
38 |
72 |
5.22e-8 |
SMART |
|
LRR
|
71 |
90 |
1.58e2 |
SMART |
|
LRR_TYP
|
91 |
114 |
2.43e-4 |
SMART |
|
LRR_TYP
|
115 |
138 |
7.78e-3 |
SMART |
|
LRR
|
140 |
162 |
5.72e-1 |
SMART |
|
LRR
|
163 |
186 |
3.78e-1 |
SMART |
|
LRRCT
|
198 |
251 |
3.1e-7 |
SMART |
|
low complexity region
|
271 |
290 |
N/A |
INTRINSIC |
|
transmembrane domain
|
312 |
334 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168793
AA Change: M244L
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000126661
Gene: ENSMUSG00000055003
AA Change: M244L
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
38 |
72 |
5.22e-8 |
SMART |
|
LRR
|
71 |
90 |
1.58e2 |
SMART |
|
LRR_TYP
|
91 |
114 |
2.43e-4 |
SMART |
|
LRR_TYP
|
115 |
138 |
7.78e-3 |
SMART |
|
LRR
|
140 |
162 |
5.72e-1 |
SMART |
|
LRR
|
163 |
186 |
3.78e-1 |
SMART |
|
LRRCT
|
198 |
251 |
3.1e-7 |
SMART |
|
low complexity region
|
271 |
290 |
N/A |
INTRINSIC |
|
transmembrane domain
|
312 |
334 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186622
|
| SMART Domains |
Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WNT1
|
79 |
144 |
1e-13 |
BLAST |
|
Pfam:VWA_N
|
155 |
271 |
6.4e-44 |
PFAM |
|
VWA
|
296 |
481 |
2.7e-16 |
SMART |
|
Pfam:Cache_1
|
494 |
559 |
1.1e-7 |
PFAM |
|
low complexity region
|
812 |
824 |
N/A |
INTRINSIC |
|
low complexity region
|
950 |
959 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
986 |
N/A |
INTRINSIC |
|
low complexity region
|
1095 |
1118 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
G |
A |
2: 26,886,927 (GRCm39) |
|
probably null |
Het |
| Ahdc1 |
T |
A |
4: 132,790,833 (GRCm39) |
F691L |
probably benign |
Het |
| Ahsa2 |
T |
A |
11: 23,441,036 (GRCm39) |
I202F |
possibly damaging |
Het |
| Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cep164 |
A |
G |
9: 45,698,722 (GRCm39) |
|
probably null |
Het |
| Cltc |
A |
G |
11: 86,603,495 (GRCm39) |
V781A |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,402,724 (GRCm39) |
S3273P |
probably damaging |
Het |
| Dnajc16 |
C |
A |
4: 141,501,820 (GRCm39) |
V337L |
probably benign |
Het |
| Fstl4 |
T |
C |
11: 53,077,388 (GRCm39) |
V715A |
possibly damaging |
Het |
| Grik1 |
C |
T |
16: 87,744,747 (GRCm39) |
G502S |
probably damaging |
Het |
| Ifi213 |
A |
G |
1: 173,417,581 (GRCm39) |
V277A |
possibly damaging |
Het |
| Ints15 |
G |
T |
5: 143,293,701 (GRCm39) |
P259T |
probably benign |
Het |
| Jph3 |
T |
C |
8: 122,479,787 (GRCm39) |
V155A |
possibly damaging |
Het |
| Katnal2 |
T |
C |
18: 77,105,294 (GRCm39) |
E51G |
probably benign |
Het |
| Kcna2 |
T |
A |
3: 107,011,550 (GRCm39) |
F44I |
probably damaging |
Het |
| Kcna6 |
T |
C |
6: 126,715,695 (GRCm39) |
E398G |
probably damaging |
Het |
| Kif15 |
A |
T |
9: 122,804,823 (GRCm39) |
H190L |
probably damaging |
Het |
| Lmbrd2 |
A |
G |
15: 9,194,788 (GRCm39) |
R597G |
possibly damaging |
Het |
| Ly6c2 |
A |
C |
15: 74,983,492 (GRCm39) |
S9A |
possibly damaging |
Het |
| Mbd4 |
T |
A |
6: 115,825,929 (GRCm39) |
|
probably null |
Het |
| Mfsd2b |
A |
G |
12: 4,916,183 (GRCm39) |
I269T |
probably benign |
Het |
| Muc6 |
A |
T |
7: 141,237,564 (GRCm39) |
C218S |
probably damaging |
Het |
| Nlrc5 |
G |
T |
8: 95,201,299 (GRCm39) |
R131L |
possibly damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,072,359 (GRCm39) |
C495S |
possibly damaging |
Het |
| Nsf |
C |
A |
11: 103,773,618 (GRCm39) |
E299* |
probably null |
Het |
| Obscn |
T |
A |
11: 58,967,889 (GRCm39) |
E336D |
probably damaging |
Het |
| Or14j9 |
G |
T |
17: 37,874,719 (GRCm39) |
T161K |
probably benign |
Het |
| Pan3 |
A |
G |
5: 147,464,008 (GRCm39) |
N587S |
probably benign |
Het |
| Pgap6 |
T |
C |
17: 26,340,614 (GRCm39) |
I666T |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,084,976 (GRCm39) |
D321G |
probably damaging |
Het |
| Plscr4 |
G |
A |
9: 92,370,794 (GRCm39) |
D254N |
probably damaging |
Het |
| Pnma8a |
A |
C |
7: 16,695,242 (GRCm39) |
M366L |
probably benign |
Het |
| Pnpla7 |
G |
T |
2: 24,870,056 (GRCm39) |
C12F |
possibly damaging |
Het |
| Ptprk |
G |
T |
10: 28,451,640 (GRCm39) |
|
probably null |
Het |
| Rgs22 |
A |
G |
15: 36,040,790 (GRCm39) |
V899A |
probably damaging |
Het |
| Ruvbl1 |
T |
A |
6: 88,462,883 (GRCm39) |
C336S |
probably benign |
Het |
| Slc27a5 |
T |
A |
7: 12,725,247 (GRCm39) |
H400L |
probably damaging |
Het |
| Slc66a1 |
T |
C |
4: 139,029,843 (GRCm39) |
T63A |
probably benign |
Het |
| Slco1a4 |
A |
T |
6: 141,761,308 (GRCm39) |
V435D |
possibly damaging |
Het |
| Snx14 |
A |
T |
9: 88,264,152 (GRCm39) |
Y818N |
probably damaging |
Het |
| Tln2 |
A |
G |
9: 67,165,817 (GRCm39) |
I2098T |
probably damaging |
Het |
| Tlr11 |
T |
C |
14: 50,598,287 (GRCm39) |
L91P |
probably damaging |
Het |
| Tmem208 |
T |
A |
8: 106,061,282 (GRCm39) |
F103I |
probably benign |
Het |
| Vmn2r3 |
C |
T |
3: 64,166,740 (GRCm39) |
C797Y |
probably damaging |
Het |
| Vwde |
T |
A |
6: 13,187,259 (GRCm39) |
M743L |
probably benign |
Het |
| Wdcp |
C |
A |
12: 4,900,617 (GRCm39) |
R158S |
probably damaging |
Het |
| Zfp773 |
T |
C |
7: 7,139,623 (GRCm39) |
T9A |
unknown |
Het |
|
| Other mutations in Lrtm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01089:Lrtm2
|
APN |
6 |
119,297,753 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02619:Lrtm2
|
APN |
6 |
119,294,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02694:Lrtm2
|
APN |
6 |
119,297,846 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
1mM(1):Lrtm2
|
UTSW |
6 |
119,294,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0458:Lrtm2
|
UTSW |
6 |
119,294,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1183:Lrtm2
|
UTSW |
6 |
119,297,846 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1502:Lrtm2
|
UTSW |
6 |
119,294,235 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3801:Lrtm2
|
UTSW |
6 |
119,294,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4373:Lrtm2
|
UTSW |
6 |
119,297,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6366:Lrtm2
|
UTSW |
6 |
119,294,238 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7177:Lrtm2
|
UTSW |
6 |
119,294,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7442:Lrtm2
|
UTSW |
6 |
119,294,392 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7448:Lrtm2
|
UTSW |
6 |
119,297,784 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7921:Lrtm2
|
UTSW |
6 |
119,294,328 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7936:Lrtm2
|
UTSW |
6 |
119,297,394 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8204:Lrtm2
|
UTSW |
6 |
119,294,369 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8239:Lrtm2
|
UTSW |
6 |
119,297,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8364:Lrtm2
|
UTSW |
6 |
119,294,259 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8415:Lrtm2
|
UTSW |
6 |
119,294,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8823:Lrtm2
|
UTSW |
6 |
119,294,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9014:Lrtm2
|
UTSW |
6 |
119,294,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9183:Lrtm2
|
UTSW |
6 |
119,294,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9290:Lrtm2
|
UTSW |
6 |
119,297,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9329:Lrtm2
|
UTSW |
6 |
119,297,412 (GRCm39) |
nonsense |
probably null |
|
|
R9342:Lrtm2
|
UTSW |
6 |
119,297,934 (GRCm39) |
missense |
probably benign |
|
|
R9390:Lrtm2
|
UTSW |
6 |
119,297,948 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCGATGATCACTGTGCCAATG -3'
(R):5'- TACTCTCCCGTAATCAGGAATAAC -3'
Sequencing Primer
(F):5'- AATGGCTCGCCGCACAC -3'
(R):5'- GGAATAACTATATTATTGGCAGGACC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation