Incidental Mutation 'R3747:Islr2'
ID |
309877 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Islr2
|
Ensembl Gene |
ENSMUSG00000051243 |
Gene Name |
immunoglobulin superfamily containing leucine-rich repeat 2 |
Synonyms |
mbu-3, B930052A04Rik, Linx |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3747 (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 58106925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 112
(S112T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151153
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114144]
[ENSMUST00000163200]
[ENSMUST00000163897]
[ENSMUST00000165276]
[ENSMUST00000170421]
[ENSMUST00000217050]
[ENSMUST00000216297]
[ENSMUST00000214649]
[ENSMUST00000216231]
[ENSMUST00000214647]
[ENSMUST00000215950]
[ENSMUST00000217427]
[ENSMUST00000217512]
[ENSMUST00000217578]
|
AlphaFold |
Q5RKR3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000114144
AA Change: S112T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000109781 Gene: ENSMUSG00000051243 AA Change: S112T
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: S156T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000130879 Gene: ENSMUSG00000051243 AA Change: S156T
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
AA Change: S112T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000130322 Gene: ENSMUSG00000051243 AA Change: S112T
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
AA Change: S112T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000129328 Gene: ENSMUSG00000051243 AA Change: S112T
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
AA Change: S112T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000127228 Gene: ENSMUSG00000051243 AA Change: S112T
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 |
probably benign
Transcript: ENSMUST00000217050
AA Change: S112T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216297
AA Change: S112T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214649
AA Change: S112T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216231
AA Change: S112T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214647
AA Change: S112T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215950
AA Change: S112T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217427
AA Change: S112T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216359
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217158
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213349
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217512
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213495
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217578
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
Abhd18 |
A |
G |
3: 40,888,008 (GRCm39) |
N284S |
probably benign |
Het |
Adam12 |
T |
C |
7: 133,774,594 (GRCm39) |
D5G |
probably damaging |
Het |
Adam26b |
A |
C |
8: 43,974,234 (GRCm39) |
V256G |
probably benign |
Het |
Aga |
T |
A |
8: 53,970,856 (GRCm39) |
I192N |
probably benign |
Het |
Ago1 |
A |
G |
4: 126,354,837 (GRCm39) |
I125T |
probably benign |
Het |
Alk |
A |
G |
17: 72,218,560 (GRCm39) |
S762P |
probably damaging |
Het |
Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
Cby3 |
T |
C |
11: 50,250,501 (GRCm39) |
*236R |
probably null |
Het |
Cfhr1 |
C |
A |
1: 139,485,372 (GRCm39) |
|
probably null |
Het |
Clcn1 |
T |
A |
6: 42,276,849 (GRCm39) |
Y393N |
probably damaging |
Het |
Cx3cr1 |
T |
C |
9: 119,881,132 (GRCm39) |
H90R |
probably damaging |
Het |
Cyp3a16 |
T |
A |
5: 145,378,881 (GRCm39) |
K380M |
probably damaging |
Het |
Cyp4v3 |
G |
A |
8: 45,768,745 (GRCm39) |
R272* |
probably null |
Het |
Dazap1 |
C |
T |
10: 80,123,498 (GRCm39) |
R391C |
possibly damaging |
Het |
Dgkh |
T |
A |
14: 78,821,885 (GRCm39) |
E876V |
probably damaging |
Het |
Dnah8 |
A |
T |
17: 31,003,148 (GRCm39) |
K3616* |
probably null |
Het |
E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
Fam221a |
A |
G |
6: 49,349,630 (GRCm39) |
D2G |
probably damaging |
Het |
Fam43a |
C |
T |
16: 30,420,664 (GRCm39) |
T416I |
probably benign |
Het |
Fam90a1a |
C |
A |
8: 22,453,221 (GRCm39) |
S192* |
probably null |
Het |
Foxd1 |
G |
C |
13: 98,492,424 (GRCm39) |
A433P |
unknown |
Het |
Garin4 |
T |
G |
1: 190,896,207 (GRCm39) |
Q145H |
probably damaging |
Het |
Gm10152 |
G |
A |
7: 144,316,937 (GRCm39) |
|
probably null |
Het |
Hipk3 |
T |
A |
2: 104,271,628 (GRCm39) |
R435* |
probably null |
Het |
Hnrnpab |
T |
A |
11: 51,493,473 (GRCm39) |
Y245F |
probably benign |
Het |
Itgb7 |
A |
T |
15: 102,131,212 (GRCm39) |
V280D |
probably damaging |
Het |
Kndc1 |
G |
A |
7: 139,507,817 (GRCm39) |
|
probably null |
Het |
Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
Mroh2b |
G |
A |
15: 4,981,728 (GRCm39) |
W1513* |
probably null |
Het |
Nbeal1 |
A |
G |
1: 60,234,182 (GRCm39) |
D51G |
probably damaging |
Het |
Ncoa6 |
G |
A |
2: 155,253,561 (GRCm39) |
P939L |
probably benign |
Het |
Ndst3 |
A |
G |
3: 123,465,201 (GRCm39) |
I257T |
probably benign |
Het |
Nolc1 |
CAG |
CAGAAG |
19: 46,069,795 (GRCm39) |
|
probably benign |
Het |
Nuf2 |
T |
A |
1: 169,352,945 (GRCm39) |
N20I |
probably damaging |
Het |
Osbpl7 |
T |
C |
11: 96,946,879 (GRCm39) |
V223A |
probably damaging |
Het |
Pcm1 |
T |
C |
8: 41,785,041 (GRCm39) |
I2064T |
probably benign |
Het |
Pkd1 |
A |
G |
17: 24,810,435 (GRCm39) |
R90G |
possibly damaging |
Het |
Pkdrej |
T |
A |
15: 85,705,278 (GRCm39) |
K219N |
probably damaging |
Het |
Ppil4 |
A |
T |
10: 7,690,457 (GRCm39) |
Q370L |
probably benign |
Het |
Pramel18 |
T |
A |
4: 101,767,073 (GRCm39) |
D107E |
possibly damaging |
Het |
Primpol |
A |
T |
8: 47,052,848 (GRCm39) |
D154E |
probably benign |
Het |
Rb1cc1 |
T |
G |
1: 6,318,966 (GRCm39) |
V778G |
possibly damaging |
Het |
Sgms1 |
A |
T |
19: 32,136,994 (GRCm39) |
S191T |
possibly damaging |
Het |
Sned1 |
T |
A |
1: 93,189,473 (GRCm39) |
F303Y |
probably damaging |
Het |
Sp9 |
T |
A |
2: 73,104,652 (GRCm39) |
M402K |
probably damaging |
Het |
Spon1 |
T |
C |
7: 113,365,621 (GRCm39) |
L19P |
probably damaging |
Het |
Spon1 |
T |
A |
7: 113,616,024 (GRCm39) |
V297E |
possibly damaging |
Het |
Tlr5 |
T |
C |
1: 182,802,004 (GRCm39) |
I436T |
probably benign |
Het |
Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
Tpcn2 |
T |
C |
7: 144,809,260 (GRCm39) |
H682R |
probably damaging |
Het |
Ugt1a6a |
T |
C |
1: 88,066,871 (GRCm39) |
Y226H |
probably damaging |
Het |
Upf1 |
G |
T |
8: 70,786,000 (GRCm39) |
N975K |
possibly damaging |
Het |
Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
Vmn1r39 |
T |
C |
6: 66,781,854 (GRCm39) |
N155D |
probably benign |
Het |
Vwa5b2 |
A |
G |
16: 20,417,076 (GRCm39) |
|
probably benign |
Het |
Yipf4 |
G |
A |
17: 74,803,667 (GRCm39) |
|
probably null |
Het |
Zdhhc17 |
T |
C |
10: 110,780,281 (GRCm39) |
I624M |
probably benign |
Het |
Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
Zswim4 |
G |
A |
8: 84,938,676 (GRCm39) |
P1069S |
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 |
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 |
|
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'- ACGCTATAGAATCGGGCTCC -3'
(R):5'- CGCTTAGTCTGTCTGCCAAC -3'
Sequencing Primer
(F):5'- TGAGACAGCGCGCTTAGTG -3'
(R):5'- GTCTGTCTGCCAACAAGATTACGG -3'
|
Posted On |
2015-04-17 |