Incidental Mutation 'R3914:Islr2'
| ID |
309562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Islr2
|
| Ensembl Gene |
ENSMUSG00000051243 |
| Gene Name |
immunoglobulin superfamily containing leucine-rich repeat 2 |
| Synonyms |
mbu-3, B930052A04Rik, Linx |
| MMRRC Submission |
040912-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3914 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
58103580-58111602 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 58105666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 531
(Y531*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114144]
[ENSMUST00000163200]
[ENSMUST00000163897]
[ENSMUST00000165276]
[ENSMUST00000170421]
[ENSMUST00000215950]
[ENSMUST00000217578]
[ENSMUST00000217427]
[ENSMUST00000217512]
[ENSMUST00000214649]
[ENSMUST00000216231]
[ENSMUST00000217050]
[ENSMUST00000214647]
[ENSMUST00000216297]
|
| AlphaFold |
Q5RKR3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000114144
AA Change: Y531*
|
| SMART Domains |
Protein: ENSMUSP00000109781
Gene: ENSMUSG00000051243
AA Change: Y531*
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
19 |
55 |
1.1e-1 |
SMART |
|
LRR
|
49 |
73 |
8.24e0 |
SMART |
|
LRR
|
98 |
121 |
1.91e1 |
SMART |
|
LRR
|
122 |
145 |
3.07e-1 |
SMART |
|
LRR_TYP
|
146 |
169 |
1.58e-3 |
SMART |
|
LRRCT
|
181 |
231 |
2.36e-12 |
SMART |
|
IG
|
245 |
374 |
2.99e-2 |
SMART |
|
low complexity region
|
510 |
535 |
N/A |
INTRINSIC |
|
transmembrane domain
|
591 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
682 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163200
AA Change: Y575*
|
| SMART Domains |
Protein: ENSMUSP00000130879
Gene: ENSMUSG00000051243
AA Change: Y575*
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
63 |
99 |
1.1e-1 |
SMART |
|
LRR
|
93 |
117 |
8.24e0 |
SMART |
|
LRR
|
142 |
165 |
1.91e1 |
SMART |
|
LRR
|
166 |
189 |
3.07e-1 |
SMART |
|
LRR_TYP
|
190 |
213 |
1.58e-3 |
SMART |
|
LRRCT
|
225 |
275 |
2.36e-12 |
SMART |
|
IG
|
289 |
418 |
2.99e-2 |
SMART |
|
low complexity region
|
554 |
579 |
N/A |
INTRINSIC |
|
transmembrane domain
|
635 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
706 |
726 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163897
AA Change: Y531*
|
| SMART Domains |
Protein: ENSMUSP00000130322
Gene: ENSMUSG00000051243
AA Change: Y531*
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
19 |
55 |
1.1e-1 |
SMART |
|
LRR
|
49 |
73 |
8.24e0 |
SMART |
|
LRR
|
98 |
121 |
1.91e1 |
SMART |
|
LRR
|
122 |
145 |
3.07e-1 |
SMART |
|
LRR_TYP
|
146 |
169 |
1.58e-3 |
SMART |
|
LRRCT
|
181 |
231 |
2.36e-12 |
SMART |
|
IG
|
245 |
374 |
2.99e-2 |
SMART |
|
low complexity region
|
510 |
535 |
N/A |
INTRINSIC |
|
transmembrane domain
|
591 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
682 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000165276
AA Change: Y531*
|
| SMART Domains |
Protein: ENSMUSP00000129328
Gene: ENSMUSG00000051243
AA Change: Y531*
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
19 |
55 |
1.1e-1 |
SMART |
|
LRR
|
49 |
73 |
8.24e0 |
SMART |
|
LRR
|
98 |
121 |
1.91e1 |
SMART |
|
LRR
|
122 |
145 |
3.07e-1 |
SMART |
|
LRR_TYP
|
146 |
169 |
1.58e-3 |
SMART |
|
LRRCT
|
181 |
231 |
2.36e-12 |
SMART |
|
IG
|
245 |
374 |
2.99e-2 |
SMART |
|
low complexity region
|
510 |
535 |
N/A |
INTRINSIC |
|
transmembrane domain
|
591 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
682 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170421
AA Change: Y531*
|
| SMART Domains |
Protein: ENSMUSP00000127228
Gene: ENSMUSG00000051243
AA Change: Y531*
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
19 |
55 |
1.1e-1 |
SMART |
|
LRR
|
49 |
73 |
8.24e0 |
SMART |
|
LRR
|
98 |
121 |
1.91e1 |
SMART |
|
LRR
|
122 |
145 |
3.07e-1 |
SMART |
|
LRR_TYP
|
146 |
169 |
1.58e-3 |
SMART |
|
LRRCT
|
181 |
231 |
2.36e-12 |
SMART |
|
IG
|
245 |
374 |
2.99e-2 |
SMART |
|
low complexity region
|
510 |
535 |
N/A |
INTRINSIC |
|
transmembrane domain
|
591 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
682 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179787
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213349
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215950
AA Change: Y531*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217578
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216359
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217512
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214649
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216231
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217158
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213495
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214647
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216297
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit perinatal lethality, absent tail pinch response, and defective peroneal and tibial nerve morphology and branch extension. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8b2 |
A |
T |
3: 89,861,755 (GRCm39) |
I266N |
probably damaging |
Het |
| AU041133 |
G |
A |
10: 81,987,649 (GRCm39) |
R434Q |
probably damaging |
Het |
| Ccdc174 |
G |
T |
6: 91,876,338 (GRCm39) |
A392S |
possibly damaging |
Het |
| Cdh18 |
T |
C |
15: 23,410,771 (GRCm39) |
Y419H |
probably damaging |
Het |
| Col20a1 |
A |
G |
2: 180,640,285 (GRCm39) |
K509R |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,215,117 (GRCm39) |
D513V |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,870,666 (GRCm39) |
F585L |
probably benign |
Het |
| Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
| Exoc1 |
G |
A |
5: 76,691,408 (GRCm39) |
S244N |
possibly damaging |
Het |
| Fam234b |
A |
G |
6: 135,202,681 (GRCm39) |
D345G |
probably damaging |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
T |
A |
10: 51,504,371 (GRCm39) |
M158L |
probably benign |
Het |
| Hdc |
T |
C |
2: 126,444,926 (GRCm39) |
T255A |
probably damaging |
Het |
| Hps5 |
T |
C |
7: 46,432,950 (GRCm39) |
T257A |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,754,203 (GRCm39) |
C628R |
probably benign |
Het |
| Igkv2-137 |
A |
T |
6: 67,532,968 (GRCm39) |
R44W |
probably damaging |
Het |
| Mast4 |
G |
A |
13: 102,875,829 (GRCm39) |
R1112* |
probably null |
Het |
| Mrc2 |
T |
C |
11: 105,238,058 (GRCm39) |
|
probably benign |
Het |
| Myo19 |
G |
A |
11: 84,785,429 (GRCm39) |
R224H |
probably damaging |
Het |
| Nup58 |
A |
G |
14: 60,469,596 (GRCm39) |
M375T |
possibly damaging |
Het |
| Phaf1 |
A |
G |
8: 105,966,615 (GRCm39) |
N121D |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,577,526 (GRCm39) |
E1133G |
probably damaging |
Het |
| Rabl6 |
T |
C |
2: 25,478,718 (GRCm39) |
T238A |
possibly damaging |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Riok3 |
A |
G |
18: 12,281,879 (GRCm39) |
I283V |
probably benign |
Het |
| Rrm1 |
A |
G |
7: 102,106,381 (GRCm39) |
Y300C |
probably damaging |
Het |
| Shoc1 |
T |
A |
4: 59,094,201 (GRCm39) |
R174S |
possibly damaging |
Het |
| Sipa1l3 |
T |
C |
7: 29,099,510 (GRCm39) |
D253G |
probably benign |
Het |
| Slc22a8 |
T |
A |
19: 8,585,550 (GRCm39) |
I305N |
probably damaging |
Het |
| Slc26a3 |
A |
T |
12: 31,503,905 (GRCm39) |
E303D |
probably benign |
Het |
| Slc32a1 |
C |
T |
2: 158,453,152 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
C |
A |
7: 65,333,556 (GRCm39) |
Q585K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ubqlnl |
A |
G |
7: 103,798,813 (GRCm39) |
V228A |
probably benign |
Het |
| Wnt7b |
T |
A |
15: 85,422,059 (GRCm39) |
D201V |
possibly damaging |
Het |
| Xpot |
A |
T |
10: 121,440,443 (GRCm39) |
I596N |
possibly damaging |
Het |
|
| Other mutations in Islr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Islr2
|
APN |
9 |
58,107,069 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01444:Islr2
|
APN |
9 |
58,105,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0346:Islr2
|
UTSW |
9 |
58,105,626 (GRCm39) |
nonsense |
probably null |
|
|
R0360:Islr2
|
UTSW |
9 |
58,107,027 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0364:Islr2
|
UTSW |
9 |
58,107,027 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0528:Islr2
|
UTSW |
9 |
58,106,645 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0693:Islr2
|
UTSW |
9 |
58,107,027 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1854:Islr2
|
UTSW |
9 |
58,107,099 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2893:Islr2
|
UTSW |
9 |
58,105,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3747:Islr2
|
UTSW |
9 |
58,106,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4176:Islr2
|
UTSW |
9 |
58,107,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4212:Islr2
|
UTSW |
9 |
58,106,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4844:Islr2
|
UTSW |
9 |
58,115,517 (GRCm39) |
unclassified |
probably benign |
|
|
R5303:Islr2
|
UTSW |
9 |
58,115,558 (GRCm39) |
unclassified |
probably benign |
|
|
R5636:Islr2
|
UTSW |
9 |
58,108,584 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5787:Islr2
|
UTSW |
9 |
58,105,637 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5883:Islr2
|
UTSW |
9 |
58,105,998 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6406:Islr2
|
UTSW |
9 |
58,107,263 (GRCm39) |
missense |
probably benign |
|
|
R7105:Islr2
|
UTSW |
9 |
58,105,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7130:Islr2
|
UTSW |
9 |
58,105,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7316:Islr2
|
UTSW |
9 |
58,105,250 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0026:Islr2
|
UTSW |
9 |
58,105,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACGATAACCAGCAGGGAC -3'
(R):5'- AGAGAAGCACTGTGGCCATG -3'
Sequencing Primer
(F):5'- CGGCAGTTCTTTCTTGGTAGAAAAC -3'
(R):5'- TGTGTCTAACCATGCATTCAACCAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation