Incidental Mutation 'IGL02715:Lrit2'
| ID |
304728 |
| 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: 0.071)
|
| Stock # |
IGL02715
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
36789886-36795700 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36794505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 523
(D523G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057176]
|
| AlphaFold |
Q6PFC5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057176
AA Change: D523G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000056642
Gene: ENSMUSG00000043418
AA Change: D523G
| 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 |
noncoding transcript
Transcript: ENSMUST00000224104
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,089,714 (GRCm39) |
I57V |
probably damaging |
Het |
| Abce1 |
T |
A |
8: 80,416,990 (GRCm39) |
E340D |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,636,212 (GRCm39) |
R583W |
probably damaging |
Het |
| Aig1 |
A |
G |
10: 13,744,360 (GRCm39) |
|
probably null |
Het |
| Atpsckmt |
A |
G |
15: 31,606,149 (GRCm39) |
T36A |
probably benign |
Het |
| Brd3 |
C |
A |
2: 27,344,495 (GRCm39) |
A412S |
possibly damaging |
Het |
| C3 |
A |
G |
17: 57,511,158 (GRCm39) |
|
probably benign |
Het |
| Ccdc127 |
A |
G |
13: 74,504,893 (GRCm39) |
E147G |
probably benign |
Het |
| Chrna4 |
A |
G |
2: 180,671,374 (GRCm39) |
|
probably benign |
Het |
| Cnn2 |
T |
C |
10: 79,829,323 (GRCm39) |
L151P |
probably damaging |
Het |
| Col11a1 |
G |
T |
3: 113,923,058 (GRCm39) |
M7I |
probably benign |
Het |
| Cstdc4 |
T |
C |
16: 36,008,315 (GRCm39) |
I67T |
possibly damaging |
Het |
| Fastkd1 |
A |
G |
2: 69,542,469 (GRCm39) |
|
probably null |
Het |
| Fcho2 |
A |
G |
13: 98,932,843 (GRCm39) |
M53T |
probably damaging |
Het |
| Fmnl2 |
T |
C |
2: 52,962,222 (GRCm39) |
Y236H |
possibly damaging |
Het |
| G6bos |
A |
G |
17: 35,284,537 (GRCm39) |
|
probably null |
Het |
| Gramd1a |
C |
T |
7: 30,835,279 (GRCm39) |
G436D |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,007,131 (GRCm39) |
Y1243C |
probably benign |
Het |
| Lrrc2 |
A |
C |
9: 110,799,182 (GRCm39) |
D177A |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,848,905 (GRCm39) |
|
probably null |
Het |
| Mrgpra6 |
A |
T |
7: 46,838,396 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,184,365 (GRCm39) |
|
probably benign |
Het |
| Myzap |
C |
A |
9: 71,422,397 (GRCm39) |
E392* |
probably null |
Het |
| Ndst3 |
G |
A |
3: 123,340,410 (GRCm39) |
|
probably benign |
Het |
| Nlrc5 |
C |
A |
8: 95,201,296 (GRCm39) |
P130H |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,971,137 (GRCm39) |
T2526A |
probably benign |
Het |
| Or1e26 |
T |
A |
11: 73,479,947 (GRCm39) |
I206F |
probably benign |
Het |
| Pcnt |
C |
A |
10: 76,204,556 (GRCm39) |
|
probably benign |
Het |
| Pfpl |
T |
A |
19: 12,407,145 (GRCm39) |
C465* |
probably null |
Het |
| Pkd1l3 |
T |
A |
8: 110,353,458 (GRCm39) |
C680S |
probably damaging |
Het |
| Ppp1r10 |
G |
T |
17: 36,241,604 (GRCm39) |
G793V |
unknown |
Het |
| Prss27 |
A |
T |
17: 24,263,953 (GRCm39) |
D213V |
possibly damaging |
Het |
| Sh2d5 |
T |
C |
4: 137,984,018 (GRCm39) |
|
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,851,549 (GRCm39) |
D193G |
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,868,588 (GRCm39) |
V66A |
probably benign |
Het |
| Synpr |
T |
C |
14: 13,608,618 (GRCm38) |
S133P |
probably damaging |
Het |
| Tagln3 |
T |
C |
16: 45,544,588 (GRCm39) |
N28D |
probably benign |
Het |
| Tfrc |
A |
G |
16: 32,443,189 (GRCm39) |
T494A |
probably benign |
Het |
| Tmem38a |
T |
C |
8: 73,333,512 (GRCm39) |
I77T |
possibly damaging |
Het |
| Tmem42 |
C |
A |
9: 122,851,295 (GRCm39) |
T86N |
probably damaging |
Het |
| Ttc8 |
T |
A |
12: 98,910,179 (GRCm39) |
|
probably benign |
Het |
| Tub |
G |
A |
7: 108,628,517 (GRCm39) |
V342I |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,014,218 (GRCm39) |
I337F |
probably damaging |
Het |
| Xkr7 |
A |
G |
2: 152,896,277 (GRCm39) |
E377G |
probably damaging |
Het |
| Zfp292 |
C |
T |
4: 34,819,542 (GRCm39) |
G260D |
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 |
|
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 |
|
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 |
Incidental Mutation