Incidental Mutation 'IGL01089:Lrtm2'
| ID |
51286 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrtm2
|
| Ensembl Gene |
ENSMUSG00000055003 |
| Gene Name |
leucine-rich repeats and transmembrane domains 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL01089
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
119292094-119307727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119297753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 96
(R96Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126661
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037434]
[ENSMUST00000068351]
[ENSMUST00000112756]
[ENSMUST00000124192]
[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 |
possibly damaging
Transcript: ENSMUST00000068351
AA Change: R96Q
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000063882
Gene: ENSMUSG00000055003
AA Change: R96Q
| 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 |
possibly damaging
Transcript: ENSMUST00000112756
AA Change: R96Q
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108376
Gene: ENSMUSG00000055003
AA Change: R96Q
| 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: ENSMUST00000124192
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168793
AA Change: R96Q
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126661
Gene: ENSMUSG00000055003
AA Change: R96Q
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
C |
14: 29,710,292 (GRCm39) |
L353S |
probably damaging |
Het |
| Adgrf2 |
G |
A |
17: 43,021,049 (GRCm39) |
P592S |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Afap1l2 |
A |
C |
19: 56,901,843 (GRCm39) |
|
probably null |
Het |
| Asnsd1 |
G |
A |
1: 53,387,436 (GRCm39) |
P64S |
probably damaging |
Het |
| Bmt2 |
A |
G |
6: 13,663,270 (GRCm39) |
M76T |
probably damaging |
Het |
| Clca3b |
A |
T |
3: 144,529,283 (GRCm39) |
V797D |
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,271,982 (GRCm39) |
S499P |
probably benign |
Het |
| Cyp27a1 |
A |
T |
1: 74,771,097 (GRCm39) |
Y94F |
possibly damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,113,898 (GRCm39) |
S1765P |
probably benign |
Het |
| Fam149a |
A |
G |
8: 45,801,564 (GRCm39) |
L519P |
possibly damaging |
Het |
| Fam171a2 |
G |
A |
11: 102,328,674 (GRCm39) |
A695V |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,470,894 (GRCm39) |
V1566E |
probably damaging |
Het |
| Flvcr1 |
T |
G |
1: 190,745,587 (GRCm39) |
N361H |
probably damaging |
Het |
| Gm1110 |
T |
C |
9: 26,793,156 (GRCm39) |
N540S |
probably benign |
Het |
| Katnip |
A |
G |
7: 125,394,485 (GRCm39) |
E187G |
probably damaging |
Het |
| Kcns3 |
T |
A |
12: 11,141,572 (GRCm39) |
T376S |
possibly damaging |
Het |
| Krt32 |
A |
G |
11: 99,978,605 (GRCm39) |
S150P |
probably benign |
Het |
| Liat1 |
A |
G |
11: 75,894,163 (GRCm39) |
E180G |
possibly damaging |
Het |
| Mctp1 |
A |
G |
13: 77,168,917 (GRCm39) |
E838G |
probably damaging |
Het |
| Mios |
T |
C |
6: 8,234,363 (GRCm39) |
|
probably null |
Het |
| Or1j10 |
A |
T |
2: 36,267,178 (GRCm39) |
Y130F |
probably damaging |
Het |
| Phldb1 |
T |
A |
9: 44,619,184 (GRCm39) |
K167* |
probably null |
Het |
| Pkhd1l1 |
A |
G |
15: 44,347,265 (GRCm39) |
|
probably benign |
Het |
| Plaa |
A |
G |
4: 94,462,284 (GRCm39) |
V531A |
probably benign |
Het |
| Psmb2 |
A |
G |
4: 126,577,999 (GRCm39) |
Y59C |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,215,286 (GRCm38) |
H1091R |
probably damaging |
Het |
| Rbm44 |
T |
A |
1: 91,096,419 (GRCm39) |
V926D |
possibly damaging |
Het |
| Rgma |
G |
T |
7: 73,059,462 (GRCm39) |
V189L |
possibly damaging |
Het |
| Sbf2 |
A |
T |
7: 109,948,169 (GRCm39) |
I1227K |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,955,710 (GRCm39) |
T443A |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,696,310 (GRCm39) |
V896A |
probably damaging |
Het |
| Taf2 |
T |
C |
15: 54,879,977 (GRCm39) |
M1120V |
probably benign |
Het |
| Ugt2b34 |
C |
T |
5: 87,054,185 (GRCm39) |
V199I |
probably benign |
Het |
| Unc5c |
C |
A |
3: 141,523,963 (GRCm39) |
|
probably benign |
Het |
| Usp37 |
G |
A |
1: 74,532,205 (GRCm39) |
R63* |
probably null |
Het |
|
| Other mutations in Lrtm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R5126:Lrtm2
|
UTSW |
6 |
119,294,400 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation