Incidental Mutation 'R4176:Islr2'
ID |
319518 |
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 |
041014-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4176 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
58103580-58111602 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 58107183 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 26
(C26S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150877
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114144]
[ENSMUST00000163200]
[ENSMUST00000163897]
[ENSMUST00000165276]
[ENSMUST00000170421]
[ENSMUST00000215950]
[ENSMUST00000216297]
[ENSMUST00000214647]
[ENSMUST00000217427]
[ENSMUST00000217512]
[ENSMUST00000214649]
[ENSMUST00000216231]
[ENSMUST00000217050]
[ENSMUST00000217578]
|
AlphaFold |
Q5RKR3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114144
AA Change: C26S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109781 Gene: ENSMUSG00000051243 AA Change: C26S
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 damaging
Transcript: ENSMUST00000163200
AA Change: C70S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130879 Gene: ENSMUSG00000051243 AA Change: C70S
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 damaging
Transcript: ENSMUST00000163897
AA Change: C26S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130322 Gene: ENSMUSG00000051243 AA Change: C26S
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 damaging
Transcript: ENSMUST00000165276
AA Change: C26S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129328 Gene: ENSMUSG00000051243 AA Change: C26S
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 damaging
Transcript: ENSMUST00000170421
AA Change: C26S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127228 Gene: ENSMUSG00000051243 AA Change: C26S
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 damaging
Transcript: ENSMUST00000215950
AA Change: C26S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216297
AA Change: C26S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214647
AA Change: C26S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217427
AA Change: C26S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217512
AA Change: C26S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214649
AA Change: C26S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216231
AA Change: C26S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217050
AA Change: C26S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217578
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217158
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216359
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213495
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,522,000 (GRCm39) |
E1274G |
possibly damaging |
Het |
Abi3bp |
A |
G |
16: 56,472,563 (GRCm39) |
E424G |
probably damaging |
Het |
Ankrd10 |
A |
G |
8: 11,662,644 (GRCm39) |
I363T |
probably benign |
Het |
Ankrd12 |
A |
T |
17: 66,334,361 (GRCm39) |
N204K |
probably damaging |
Het |
Brca2 |
C |
A |
5: 150,463,098 (GRCm39) |
S954* |
probably null |
Het |
Col11a1 |
A |
C |
3: 114,001,872 (GRCm39) |
D432A |
possibly damaging |
Het |
Dagla |
G |
T |
19: 10,240,461 (GRCm39) |
D256E |
probably damaging |
Het |
Dsg2 |
T |
A |
18: 20,713,720 (GRCm39) |
F230L |
probably benign |
Het |
Elp5 |
T |
C |
11: 69,861,388 (GRCm39) |
Q197R |
probably null |
Het |
Emilin2 |
A |
T |
17: 71,581,258 (GRCm39) |
D489E |
probably benign |
Het |
Entrep3 |
T |
C |
3: 89,091,754 (GRCm39) |
V87A |
probably damaging |
Het |
Ermp1 |
A |
G |
19: 29,623,365 (GRCm39) |
|
probably null |
Het |
Fam149a |
A |
G |
8: 45,794,321 (GRCm39) |
Y614H |
probably benign |
Het |
Fnbp1 |
T |
C |
2: 30,926,131 (GRCm39) |
|
probably null |
Het |
Gabrb3 |
T |
C |
7: 57,241,061 (GRCm39) |
F13S |
probably benign |
Het |
Hydin |
G |
A |
8: 111,320,452 (GRCm39) |
A4499T |
probably benign |
Het |
Jup |
T |
A |
11: 100,263,287 (GRCm39) |
D696V |
probably benign |
Het |
Kcnq5 |
A |
C |
1: 21,605,392 (GRCm39) |
V171G |
probably damaging |
Het |
Kntc1 |
T |
G |
5: 123,914,680 (GRCm39) |
S667A |
possibly damaging |
Het |
Loxhd1 |
A |
G |
18: 77,418,755 (GRCm39) |
T293A |
possibly damaging |
Het |
Lrp1b |
C |
A |
2: 41,298,405 (GRCm39) |
C138F |
probably damaging |
Het |
Lrrc37 |
T |
A |
11: 103,427,426 (GRCm39) |
H1388L |
unknown |
Het |
Mctp2 |
A |
G |
7: 71,909,085 (GRCm39) |
I76T |
probably benign |
Het |
Or2z8 |
A |
G |
8: 72,812,028 (GRCm39) |
Y168C |
probably damaging |
Het |
Or5k16 |
T |
C |
16: 58,736,947 (GRCm39) |
D19G |
probably benign |
Het |
Pbx1 |
A |
G |
1: 168,018,841 (GRCm39) |
|
probably null |
Het |
Pelp1 |
A |
T |
11: 70,287,693 (GRCm39) |
W410R |
probably damaging |
Het |
Phaf1 |
T |
C |
8: 105,967,763 (GRCm39) |
L218P |
probably benign |
Het |
Pkd1 |
T |
C |
17: 24,806,971 (GRCm39) |
L3482P |
probably benign |
Het |
Plekhn1 |
C |
T |
4: 156,306,258 (GRCm39) |
G604E |
probably benign |
Het |
Ptpn22 |
A |
G |
3: 103,793,561 (GRCm39) |
T571A |
probably benign |
Het |
Qrsl1 |
A |
T |
10: 43,760,828 (GRCm39) |
S252T |
probably damaging |
Het |
Rab3gap2 |
T |
A |
1: 184,978,863 (GRCm39) |
M280K |
probably damaging |
Het |
Serpinh1 |
T |
C |
7: 98,996,206 (GRCm39) |
M293V |
probably benign |
Het |
Six4 |
G |
A |
12: 73,155,605 (GRCm39) |
T454I |
probably damaging |
Het |
Slc26a8 |
T |
A |
17: 28,866,973 (GRCm39) |
E585D |
probably benign |
Het |
Slc34a2 |
T |
G |
5: 53,224,910 (GRCm39) |
C350W |
probably damaging |
Het |
Slit2 |
T |
A |
5: 48,394,586 (GRCm39) |
|
probably null |
Het |
Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
Trpm7 |
T |
C |
2: 126,671,083 (GRCm39) |
K633R |
possibly damaging |
Het |
Usp38 |
A |
C |
8: 81,719,928 (GRCm39) |
S434A |
probably benign |
Het |
Zbtb16 |
A |
G |
9: 48,571,101 (GRCm39) |
F555S |
probably damaging |
Het |
Zfp141 |
A |
T |
7: 42,125,705 (GRCm39) |
S256T |
probably benign |
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 |
|
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'- CTGACTCAGCACTGCCAATG -3'
(R):5'- CTGGAGCCTACATAGGTTTAGAAG -3'
Sequencing Primer
(F):5'- TGCGTACCTCACTGTGAGC -3'
(R):5'- GCCTACATAGGTTTAGAAGGTAGAG -3'
|
Posted On |
2015-06-10 |