Incidental Mutation 'R6499:Lrit2'
ID |
519645 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrit2
|
Ensembl Gene |
ENSMUSG00000043418 |
Gene Name |
leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 |
Synonyms |
A930010E21Rik, Lrrc22 |
MMRRC Submission |
044631-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R6499 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
36789886-36795700 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36790767 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 149
(F149L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056642
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057176]
[ENSMUST00000120052]
|
AlphaFold |
Q6PFC5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057176
AA Change: F149L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000056642 Gene: ENSMUSG00000043418 AA Change: F149L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
LRRNT
|
23 |
59 |
7.74e-2 |
SMART |
LRR
|
78 |
101 |
9.96e-1 |
SMART |
LRR_TYP
|
102 |
125 |
8.94e-3 |
SMART |
LRR
|
126 |
149 |
2.03e1 |
SMART |
LRR_TYP
|
150 |
173 |
7.67e-2 |
SMART |
LRRCT
|
200 |
251 |
7.12e-7 |
SMART |
IGc2
|
265 |
334 |
2.05e-9 |
SMART |
FN3
|
362 |
443 |
5.94e0 |
SMART |
transmembrane domain
|
463 |
485 |
N/A |
INTRINSIC |
low complexity region
|
538 |
546 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120052
|
SMART Domains |
Protein: ENSMUSP00000113964 Gene: ENSMUSG00000041044
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
LRRNT
|
22 |
63 |
1.97e-3 |
SMART |
LRR
|
82 |
105 |
1.03e1 |
SMART |
LRR
|
106 |
129 |
3e1 |
SMART |
LRR
|
130 |
152 |
1.12e1 |
SMART |
LRR_TYP
|
154 |
177 |
4.47e-3 |
SMART |
LRRCT
|
201 |
253 |
2.04e-7 |
SMART |
IGc2
|
267 |
336 |
6.55e-8 |
SMART |
FN3
|
429 |
506 |
2.22e0 |
SMART |
transmembrane domain
|
531 |
553 |
N/A |
INTRINSIC |
low complexity region
|
581 |
595 |
N/A |
INTRINSIC |
low complexity region
|
597 |
608 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224104
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
Validation Efficiency |
98% (43/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
T |
3: 137,774,561 (GRCm39) |
T1250M |
probably damaging |
Het |
Actn1 |
C |
T |
12: 80,215,191 (GRCm39) |
A857T |
possibly damaging |
Het |
Adam2 |
C |
T |
14: 66,296,239 (GRCm39) |
V207I |
probably damaging |
Het |
Angpt2 |
T |
C |
8: 18,744,533 (GRCm39) |
T404A |
probably benign |
Het |
Ank3 |
T |
C |
10: 69,827,574 (GRCm39) |
|
probably benign |
Het |
Atosa |
C |
A |
9: 74,930,930 (GRCm39) |
Q958K |
probably damaging |
Het |
B4galt4 |
T |
A |
16: 38,578,184 (GRCm39) |
D210E |
probably benign |
Het |
Brinp3 |
A |
T |
1: 146,777,431 (GRCm39) |
H626L |
possibly damaging |
Het |
Ccna2 |
T |
G |
3: 36,625,112 (GRCm39) |
D68A |
probably damaging |
Het |
Cd163 |
G |
A |
6: 124,281,703 (GRCm39) |
G2D |
probably benign |
Het |
Chrm5 |
A |
T |
2: 112,310,825 (GRCm39) |
V97D |
probably benign |
Het |
Dctn5 |
G |
A |
7: 121,734,320 (GRCm39) |
V55I |
probably benign |
Het |
Dnm3 |
A |
T |
1: 162,141,164 (GRCm39) |
I365N |
probably damaging |
Het |
Esyt2 |
A |
G |
12: 116,284,790 (GRCm39) |
D184G |
probably damaging |
Het |
Ifi214 |
C |
A |
1: 173,352,597 (GRCm39) |
K277N |
probably damaging |
Het |
Il11ra1 |
C |
T |
4: 41,765,412 (GRCm39) |
P169L |
probably benign |
Het |
Inhbb |
C |
T |
1: 119,345,069 (GRCm39) |
E407K |
probably damaging |
Het |
Lama2 |
T |
A |
10: 26,907,154 (GRCm39) |
T2336S |
probably damaging |
Het |
Ldhb |
A |
T |
6: 142,439,847 (GRCm39) |
V231E |
possibly damaging |
Het |
Malrd1 |
T |
A |
2: 15,936,500 (GRCm39) |
S1575T |
probably benign |
Het |
Naip5 |
A |
G |
13: 100,358,102 (GRCm39) |
C1045R |
probably benign |
Het |
Nefl |
A |
G |
14: 68,322,034 (GRCm39) |
E208G |
probably damaging |
Het |
Oog4 |
A |
C |
4: 143,164,548 (GRCm39) |
S328A |
probably damaging |
Het |
Or1e1 |
T |
A |
11: 73,245,011 (GRCm39) |
L144Q |
probably damaging |
Het |
Or5p79 |
G |
T |
7: 108,221,713 (GRCm39) |
M231I |
probably benign |
Het |
Or6c216 |
T |
C |
10: 129,678,453 (GRCm39) |
I153V |
probably benign |
Het |
Or7e168 |
A |
G |
9: 19,719,847 (GRCm39) |
I78V |
probably benign |
Het |
Pbrm1 |
A |
G |
14: 30,783,466 (GRCm39) |
N528D |
probably damaging |
Het |
Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
Polq |
T |
C |
16: 36,881,189 (GRCm39) |
S839P |
probably benign |
Het |
Psmg1 |
A |
G |
16: 95,789,297 (GRCm39) |
F87L |
probably damaging |
Het |
Ptprt |
A |
G |
2: 161,376,507 (GRCm39) |
M1298T |
probably benign |
Het |
Rbm27 |
T |
A |
18: 42,470,076 (GRCm39) |
W958R |
probably damaging |
Het |
Skint5 |
T |
G |
4: 113,396,552 (GRCm39) |
D1207A |
unknown |
Het |
Stx17 |
T |
A |
4: 48,183,478 (GRCm39) |
|
probably null |
Het |
Tas2r114 |
A |
T |
6: 131,666,099 (GRCm39) |
*310R |
probably null |
Het |
Tmem130 |
T |
A |
5: 144,689,224 (GRCm39) |
N139I |
probably damaging |
Het |
Trpc1 |
T |
C |
9: 95,608,490 (GRCm39) |
E267G |
probably damaging |
Het |
Trrap |
T |
A |
5: 144,793,812 (GRCm39) |
M3398K |
probably damaging |
Het |
Vrtn |
T |
G |
12: 84,697,090 (GRCm39) |
D613E |
probably benign |
Het |
Vsx1 |
G |
T |
2: 150,530,441 (GRCm39) |
T147K |
probably benign |
Het |
Wdr55 |
T |
C |
18: 36,895,231 (GRCm39) |
V103A |
probably benign |
Het |
Zfp712 |
A |
T |
13: 67,200,400 (GRCm39) |
D28E |
probably benign |
Het |
|
Other mutations in Lrit2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00327:Lrit2
|
APN |
14 |
36,793,920 (GRCm39) |
missense |
probably benign |
0.31 |
IGL01475:Lrit2
|
APN |
14 |
36,791,051 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02080:Lrit2
|
APN |
14 |
36,791,031 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02141:Lrit2
|
APN |
14 |
36,790,031 (GRCm39) |
unclassified |
probably benign |
|
IGL02479:Lrit2
|
APN |
14 |
36,794,235 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02715:Lrit2
|
APN |
14 |
36,794,505 (GRCm39) |
missense |
probably benign |
0.00 |
R0114:Lrit2
|
UTSW |
14 |
36,790,002 (GRCm39) |
splice site |
probably null |
|
R1344:Lrit2
|
UTSW |
14 |
36,790,513 (GRCm39) |
missense |
probably benign |
0.32 |
R1529:Lrit2
|
UTSW |
14 |
36,790,784 (GRCm39) |
missense |
probably benign |
0.12 |
R1641:Lrit2
|
UTSW |
14 |
36,791,105 (GRCm39) |
missense |
probably benign |
0.34 |
R2105:Lrit2
|
UTSW |
14 |
36,793,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R4365:Lrit2
|
UTSW |
14 |
36,794,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R4645:Lrit2
|
UTSW |
14 |
36,794,432 (GRCm39) |
missense |
probably benign |
|
R5226:Lrit2
|
UTSW |
14 |
36,794,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R5377:Lrit2
|
UTSW |
14 |
36,791,140 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5387:Lrit2
|
UTSW |
14 |
36,794,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R5840:Lrit2
|
UTSW |
14 |
36,790,962 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5881:Lrit2
|
UTSW |
14 |
36,794,192 (GRCm39) |
missense |
probably benign |
0.02 |
R6863:Lrit2
|
UTSW |
14 |
36,793,901 (GRCm39) |
missense |
probably damaging |
0.99 |
R7307:Lrit2
|
UTSW |
14 |
36,794,156 (GRCm39) |
missense |
probably benign |
0.00 |
R7316:Lrit2
|
UTSW |
14 |
36,790,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R7491:Lrit2
|
UTSW |
14 |
36,790,867 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7525:Lrit2
|
UTSW |
14 |
36,794,450 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7640:Lrit2
|
UTSW |
14 |
36,794,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R8228:Lrit2
|
UTSW |
14 |
36,791,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R8397:Lrit2
|
UTSW |
14 |
36,791,034 (GRCm39) |
missense |
probably damaging |
0.98 |
R8815:Lrit2
|
UTSW |
14 |
36,794,487 (GRCm39) |
missense |
probably benign |
0.00 |
R9099:Lrit2
|
UTSW |
14 |
36,790,812 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9152:Lrit2
|
UTSW |
14 |
36,794,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R9193:Lrit2
|
UTSW |
14 |
36,794,550 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9309:Lrit2
|
UTSW |
14 |
36,793,848 (GRCm39) |
missense |
probably benign |
0.03 |
R9517:Lrit2
|
UTSW |
14 |
36,794,272 (GRCm39) |
nonsense |
probably null |
|
R9670:Lrit2
|
UTSW |
14 |
36,790,115 (GRCm39) |
nonsense |
probably null |
|
R9764:Lrit2
|
UTSW |
14 |
36,790,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CACCAACATGAGCAGTTTGG -3'
(R):5'- TAATCGGCAGTCGCACAACC -3'
Sequencing Primer
(F):5'- CAGTTTGGAATACCTTTGGCTCAAC -3'
(R):5'- CAGTCGCACAACCAAGGATTATTGTG -3'
|
Posted On |
2018-06-06 |