Incidental Mutation 'IGL02694:Lrtm2'
| ID |
303864 |
| 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 # |
IGL02694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
119292094-119307727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119297846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 65
(D65V)
|
| 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: D65V
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000063882
Gene: ENSMUSG00000055003
AA Change: D65V
| 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: D65V
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108376
Gene: ENSMUSG00000055003
AA Change: D65V
| 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: D65V
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000126661
Gene: ENSMUSG00000055003
AA Change: D65V
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
A |
G |
7: 97,866,084 (GRCm39) |
I213T |
probably benign |
Het |
| Alox8 |
T |
A |
11: 69,077,455 (GRCm39) |
T432S |
probably damaging |
Het |
| Col4a3 |
T |
C |
1: 82,688,515 (GRCm39) |
|
probably benign |
Het |
| Cyp2c54 |
A |
G |
19: 40,035,987 (GRCm39) |
Y308H |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,394,476 (GRCm39) |
V1942A |
probably benign |
Het |
| F11 |
T |
C |
8: 45,705,196 (GRCm39) |
Y115C |
probably damaging |
Het |
| Fam13b |
A |
G |
18: 34,584,259 (GRCm39) |
|
probably null |
Het |
| Gykl1 |
A |
G |
18: 52,827,257 (GRCm39) |
H155R |
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,124,606 (GRCm39) |
V355D |
probably damaging |
Het |
| Ly6g6f |
C |
T |
17: 35,300,144 (GRCm39) |
V235M |
possibly damaging |
Het |
| Mlxipl |
G |
A |
5: 135,152,872 (GRCm39) |
|
probably null |
Het |
| Or11j4 |
A |
G |
14: 50,630,257 (GRCm39) |
I15V |
probably benign |
Het |
| Or13a20 |
A |
G |
7: 140,232,093 (GRCm39) |
N67S |
probably damaging |
Het |
| Or14a256 |
C |
T |
7: 86,265,518 (GRCm39) |
V112I |
probably benign |
Het |
| Ppp2r1a |
A |
G |
17: 21,171,702 (GRCm39) |
|
probably benign |
Het |
| Psmb2 |
A |
G |
4: 126,603,351 (GRCm39) |
N193S |
probably benign |
Het |
| Rassf2 |
A |
T |
2: 131,851,641 (GRCm39) |
Y34N |
possibly damaging |
Het |
| Ryr2 |
A |
G |
13: 11,620,075 (GRCm39) |
F3841L |
probably damaging |
Het |
| Skint2 |
A |
G |
4: 112,473,792 (GRCm39) |
|
probably benign |
Het |
| Spdl1 |
T |
C |
11: 34,704,448 (GRCm39) |
I462V |
probably benign |
Het |
| Spopfm1 |
A |
G |
3: 94,173,459 (GRCm39) |
M152V |
probably benign |
Het |
| Tlk2 |
A |
G |
11: 105,112,061 (GRCm39) |
E138G |
probably benign |
Het |
| Vmn1r89 |
A |
G |
7: 12,954,056 (GRCm39) |
E196G |
probably benign |
Het |
| Zfp142 |
A |
G |
1: 74,609,307 (GRCm39) |
L1496P |
probably damaging |
Het |
| Zfp689 |
T |
C |
7: 127,047,573 (GRCm39) |
D94G |
possibly damaging |
Het |
| Zfp944 |
A |
G |
17: 22,558,899 (GRCm39) |
V116A |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation