Incidental Mutation 'R5636:Islr2'
| ID |
440375 |
| 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 |
043287-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5636 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
58103580-58111602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58108584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 35
(T35A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114144]
[ENSMUST00000163200]
[ENSMUST00000163897]
[ENSMUST00000165276]
[ENSMUST00000170421]
[ENSMUST00000217578]
[ENSMUST00000217050]
[ENSMUST00000216297]
[ENSMUST00000217427]
[ENSMUST00000215950]
[ENSMUST00000214649]
[ENSMUST00000216231]
[ENSMUST00000217512]
[ENSMUST00000214647]
|
| AlphaFold |
Q5RKR3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114144
|
| SMART Domains |
Protein: ENSMUSP00000109781
Gene: ENSMUSG00000051243
| 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 benign
Transcript: ENSMUST00000163200
AA Change: T35A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000130879
Gene: ENSMUSG00000051243
AA Change: T35A
| 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 benign
Transcript: ENSMUST00000163897
|
| SMART Domains |
Protein: ENSMUSP00000130322
Gene: ENSMUSG00000051243
| 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 benign
Transcript: ENSMUST00000165276
|
| SMART Domains |
Protein: ENSMUSP00000129328
Gene: ENSMUSG00000051243
| 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 benign
Transcript: ENSMUST00000170421
|
| SMART Domains |
Protein: ENSMUSP00000127228
Gene: ENSMUSG00000051243
| 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 benign
Transcript: ENSMUST00000217578
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217050
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216297
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217427
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215950
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214649
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216231
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217512
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216359
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217158
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213495
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214647
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
T |
19: 31,922,382 (GRCm39) |
Q448* |
probably null |
Het |
| Abca5 |
A |
G |
11: 110,192,362 (GRCm39) |
Y717H |
probably benign |
Het |
| Abcg2 |
T |
A |
6: 58,649,041 (GRCm39) |
D295E |
probably damaging |
Het |
| Accsl |
C |
T |
2: 93,699,370 (GRCm39) |
E7K |
probably benign |
Het |
| Acvr2b |
A |
G |
9: 119,257,375 (GRCm39) |
Y152C |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,354,120 (GRCm39) |
E1747G |
probably damaging |
Het |
| Arpp19 |
C |
T |
9: 74,945,215 (GRCm39) |
|
probably benign |
Het |
| Atp10d |
A |
G |
5: 72,445,562 (GRCm39) |
Y74C |
probably damaging |
Het |
| Atp6v0b |
T |
C |
4: 117,743,582 (GRCm39) |
|
probably benign |
Het |
| Bms1 |
C |
A |
6: 118,365,786 (GRCm39) |
M1133I |
probably benign |
Het |
| Bysl |
A |
C |
17: 47,913,648 (GRCm39) |
D259E |
probably benign |
Het |
| Capn1 |
A |
T |
19: 6,064,472 (GRCm39) |
V9E |
probably benign |
Het |
| Cdkl2 |
T |
C |
5: 92,181,601 (GRCm39) |
I127V |
probably benign |
Het |
| Cyp2c38 |
G |
A |
19: 39,426,750 (GRCm39) |
Q184* |
probably null |
Het |
| Cypt12 |
C |
T |
3: 18,002,749 (GRCm39) |
R41C |
probably benign |
Het |
| Dnaaf11 |
A |
T |
15: 66,372,665 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,173,307 (GRCm39) |
I2469V |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,644,089 (GRCm39) |
V923A |
possibly damaging |
Het |
| Gm13889 |
A |
G |
2: 93,787,031 (GRCm39) |
C148R |
probably damaging |
Het |
| Gpd1 |
A |
T |
15: 99,619,939 (GRCm39) |
T223S |
probably benign |
Het |
| Hcrtr1 |
C |
A |
4: 130,024,738 (GRCm39) |
G383C |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,316,932 (GRCm39) |
P2047S |
possibly damaging |
Het |
| Lgr6 |
T |
C |
1: 134,914,816 (GRCm39) |
D644G |
probably benign |
Het |
| Mdn1 |
C |
T |
4: 32,695,480 (GRCm39) |
T1173I |
probably damaging |
Het |
| Mon1a |
T |
C |
9: 107,778,439 (GRCm39) |
V221A |
probably damaging |
Het |
| Mrgprb4 |
A |
G |
7: 47,848,218 (GRCm39) |
C237R |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,836,687 (GRCm39) |
M264T |
probably damaging |
Het |
| Naxd |
A |
G |
8: 11,552,676 (GRCm39) |
N32S |
probably benign |
Het |
| Nlrp12 |
A |
T |
7: 3,273,926 (GRCm39) |
L1010Q |
probably damaging |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Nuggc |
A |
T |
14: 65,885,637 (GRCm39) |
K755* |
probably null |
Het |
| Or2av9 |
T |
C |
11: 58,380,877 (GRCm39) |
K235E |
probably damaging |
Het |
| Or9i2 |
C |
T |
19: 13,815,701 (GRCm39) |
V279M |
possibly damaging |
Het |
| Pik3ca |
G |
A |
3: 32,515,709 (GRCm39) |
R794Q |
probably damaging |
Het |
| Pnp2 |
A |
G |
14: 51,193,649 (GRCm39) |
|
probably null |
Het |
| Ric3 |
G |
A |
7: 108,638,027 (GRCm39) |
T242I |
probably damaging |
Het |
| Rnf213 |
A |
C |
11: 119,327,731 (GRCm39) |
Q1906P |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,327,455 (GRCm39) |
R1814K |
probably benign |
Het |
| Rufy2 |
T |
A |
10: 62,833,733 (GRCm39) |
I265N |
probably damaging |
Het |
| Scap |
G |
T |
9: 110,209,662 (GRCm39) |
G744C |
probably damaging |
Het |
| Serpinb3c |
T |
C |
1: 107,202,744 (GRCm39) |
Q88R |
possibly damaging |
Het |
| Sf3b1 |
T |
C |
1: 55,036,352 (GRCm39) |
D907G |
probably damaging |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc4a3 |
C |
T |
1: 75,530,860 (GRCm39) |
L749F |
possibly damaging |
Het |
| Smtn |
T |
G |
11: 3,467,829 (GRCm39) |
|
probably null |
Het |
| Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,887,885 (GRCm39) |
|
probably benign |
Het |
| Stam |
G |
T |
2: 14,122,238 (GRCm39) |
M112I |
probably damaging |
Het |
| Tex35 |
C |
T |
1: 156,927,794 (GRCm39) |
W125* |
probably null |
Het |
| Tmem215 |
A |
G |
4: 40,474,394 (GRCm39) |
E157G |
probably damaging |
Het |
| Traf6 |
G |
A |
2: 101,527,254 (GRCm39) |
V335M |
probably benign |
Het |
| Ubr5 |
T |
A |
15: 37,984,240 (GRCm39) |
K2302N |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,603,637 (GRCm39) |
H605R |
probably 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 |
|
R3914:Islr2
|
UTSW |
9 |
58,105,666 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
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'- CAACTTGAGGGTCCTGTCAG -3'
(R):5'- AAACCTGCAATCCTGGAGAAG -3'
Sequencing Primer
(F):5'- TTGGAAGACCCTCTCCTACAC -3'
(R):5'- CCTGCAATCCTGGAGAAGTAGGG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation