Incidental Mutation 'R4373:Lrtm2'
ID |
326061 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrtm2
|
Ensembl Gene |
ENSMUSG00000055003 |
Gene Name |
leucine-rich repeats and transmembrane domains 2 |
Synonyms |
|
MMRRC Submission |
041675-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R4373 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
119292094-119307727 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119297489 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 184
(F184S)
|
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 |
probably damaging
Transcript: ENSMUST00000068351
AA Change: F184S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063882 Gene: ENSMUSG00000055003 AA Change: F184S
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 damaging
Transcript: ENSMUST00000112756
AA Change: F184S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108376 Gene: ENSMUSG00000055003 AA Change: F184S
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 |
probably damaging
Transcript: ENSMUST00000168793
AA Change: F184S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126661 Gene: ENSMUSG00000055003 AA Change: F184S
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 |
|
Meta Mutation Damage Score |
0.7747 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck5 |
A |
G |
15: 76,478,535 (GRCm39) |
|
probably benign |
Het |
Akr1b1 |
A |
C |
6: 34,281,202 (GRCm39) |
|
probably benign |
Het |
Armh4 |
T |
A |
14: 50,007,893 (GRCm39) |
T527S |
probably damaging |
Het |
Asns |
A |
T |
6: 7,677,978 (GRCm39) |
S367T |
probably damaging |
Het |
BC034090 |
T |
C |
1: 155,101,904 (GRCm39) |
N120S |
probably benign |
Het |
Bub1 |
A |
T |
2: 127,647,156 (GRCm39) |
|
probably benign |
Het |
Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
Ctsz |
T |
C |
2: 174,270,378 (GRCm39) |
E268G |
possibly damaging |
Het |
Dach1 |
G |
A |
14: 98,065,186 (GRCm39) |
T685I |
possibly damaging |
Het |
Dclre1a |
A |
G |
19: 56,533,874 (GRCm39) |
L240S |
probably benign |
Het |
Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
Esam |
C |
T |
9: 37,445,492 (GRCm39) |
T71I |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Gde1 |
A |
G |
7: 118,297,781 (GRCm39) |
L35P |
possibly damaging |
Het |
Gm10382 |
A |
G |
5: 125,466,647 (GRCm39) |
|
probably benign |
Het |
H2-M10.6 |
T |
C |
17: 37,123,958 (GRCm39) |
Y141H |
probably damaging |
Het |
Hk1 |
C |
A |
10: 62,151,319 (GRCm39) |
K10N |
probably damaging |
Het |
Lamc3 |
A |
G |
2: 31,788,244 (GRCm39) |
K135E |
probably damaging |
Het |
Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
Mtcl1 |
T |
A |
17: 66,687,074 (GRCm39) |
T611S |
probably benign |
Het |
Myc |
A |
T |
15: 61,861,513 (GRCm39) |
H373L |
probably damaging |
Het |
Myh6 |
T |
A |
14: 55,199,565 (GRCm39) |
I249F |
probably damaging |
Het |
Naaa |
T |
C |
5: 92,426,002 (GRCm39) |
|
probably benign |
Het |
Nfib |
A |
G |
4: 82,241,895 (GRCm39) |
V432A |
probably damaging |
Het |
Nmt1 |
A |
G |
11: 102,934,026 (GRCm39) |
K55R |
probably damaging |
Het |
Opa3 |
C |
T |
7: 18,978,699 (GRCm39) |
R55W |
probably damaging |
Het |
Or4c122 |
T |
C |
2: 89,079,589 (GRCm39) |
R150G |
possibly damaging |
Het |
Pfn4 |
T |
A |
12: 4,820,182 (GRCm39) |
D10E |
probably damaging |
Het |
Pld5 |
T |
A |
1: 175,967,583 (GRCm39) |
I91F |
probably damaging |
Het |
Plec |
A |
C |
15: 76,067,317 (GRCm39) |
S1350A |
probably damaging |
Het |
Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
Ppp1r16b |
T |
C |
2: 158,603,685 (GRCm39) |
Y537H |
probably damaging |
Het |
Prdm8 |
T |
C |
5: 98,334,367 (GRCm39) |
S645P |
probably damaging |
Het |
Rgs1 |
T |
C |
1: 144,123,644 (GRCm39) |
T94A |
probably benign |
Het |
Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
Sanbr |
A |
T |
11: 23,565,265 (GRCm39) |
|
probably null |
Het |
Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
Sgsm1 |
TTTTATATT |
TTT |
5: 113,405,989 (GRCm39) |
|
probably benign |
Het |
Sirpb1b |
A |
T |
3: 15,613,821 (GRCm39) |
I87K |
probably damaging |
Het |
Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
Stat4 |
T |
C |
1: 52,111,100 (GRCm39) |
|
probably null |
Het |
Tex9 |
A |
T |
9: 72,387,877 (GRCm39) |
|
probably null |
Het |
Tsku |
T |
C |
7: 98,002,038 (GRCm39) |
T98A |
probably benign |
Het |
Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Vmn2r116 |
A |
C |
17: 23,620,395 (GRCm39) |
I710L |
probably benign |
Het |
Vmn2r16 |
A |
T |
5: 109,511,667 (GRCm39) |
I625F |
probably damaging |
Het |
Xpo4 |
G |
A |
14: 57,828,479 (GRCm39) |
Q794* |
probably null |
Het |
Zfp112 |
T |
A |
7: 23,824,473 (GRCm39) |
I147N |
probably damaging |
Het |
Zmiz1 |
T |
C |
14: 25,636,434 (GRCm39) |
S140P |
probably damaging |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCCTCTGACTGCAGGAATTG -3'
(R):5'- CAGCTTCGGAATAACAGCATCAG -3'
Sequencing Primer
(F):5'- CTCTGACTGCAGGAATTGGTGATG -3'
(R):5'- TAACAGCATCAGGACCCTGG -3'
|
Posted On |
2015-07-06 |