Incidental Mutation 'IGL02080:Lrit2'
ID |
283376 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrit2
|
Ensembl Gene |
ENSMUSG00000043418 |
Gene Name |
leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 |
Synonyms |
A930010E21Rik, Lrrc22 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
IGL02080
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
36789886-36795700 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36791031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 237
(K237E)
|
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: K237E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000056642 Gene: ENSMUSG00000043418 AA Change: K237E
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd33 |
A |
G |
7: 43,178,274 (GRCm39) |
|
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnajc1 |
A |
G |
2: 18,321,159 (GRCm39) |
|
probably benign |
Het |
Dpysl2 |
A |
T |
14: 67,067,394 (GRCm39) |
D172E |
probably benign |
Het |
Fbxw28 |
A |
G |
9: 109,168,641 (GRCm39) |
L17P |
probably damaging |
Het |
Gprin3 |
C |
A |
6: 59,331,176 (GRCm39) |
R377M |
possibly damaging |
Het |
Hectd4 |
T |
A |
5: 121,504,669 (GRCm39) |
|
probably benign |
Het |
Kif26a |
G |
T |
12: 112,124,000 (GRCm39) |
A202S |
probably damaging |
Het |
Lrig2 |
A |
T |
3: 104,371,440 (GRCm39) |
D754E |
probably damaging |
Het |
Med13 |
A |
G |
11: 86,174,638 (GRCm39) |
V1729A |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,888,095 (GRCm39) |
S100P |
probably damaging |
Het |
Mrnip |
A |
G |
11: 50,088,502 (GRCm39) |
D166G |
probably benign |
Het |
Or1s2 |
T |
C |
19: 13,758,846 (GRCm39) |
F288S |
probably damaging |
Het |
Or4k1 |
A |
T |
14: 50,377,579 (GRCm39) |
N172K |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,911,345 (GRCm39) |
N311Y |
unknown |
Het |
Ppara |
A |
G |
15: 85,673,220 (GRCm39) |
D137G |
possibly damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Scube2 |
A |
G |
7: 109,451,685 (GRCm39) |
F156S |
probably damaging |
Het |
Setd2 |
T |
G |
9: 110,376,518 (GRCm39) |
|
probably null |
Het |
Slc24a2 |
A |
G |
4: 87,145,383 (GRCm39) |
C224R |
probably damaging |
Het |
Snrnp48 |
A |
G |
13: 38,400,466 (GRCm39) |
D191G |
probably damaging |
Het |
Spo11 |
A |
G |
2: 172,831,188 (GRCm39) |
Y266C |
probably damaging |
Het |
Tmem144 |
G |
A |
3: 79,730,066 (GRCm39) |
|
probably benign |
Het |
Tsacc |
A |
T |
3: 88,202,696 (GRCm39) |
|
probably null |
Het |
Unc5d |
T |
C |
8: 29,381,316 (GRCm39) |
|
probably null |
Het |
Unc79 |
A |
G |
12: 102,968,234 (GRCm39) |
I153M |
probably damaging |
Het |
Vgll4 |
A |
G |
6: 114,839,759 (GRCm39) |
C178R |
probably damaging |
Het |
Vmn2r90 |
T |
A |
17: 17,933,120 (GRCm39) |
S227T |
probably damaging |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
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 |
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 |
R6499:Lrit2
|
UTSW |
14 |
36,790,767 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
|
Posted On |
2015-04-16 |