Incidental Mutation 'R0528:Islr2'
| ID |
49002 |
| 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 |
038720-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0528 (G1)
|
| Quality Score |
124 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
58103580-58111602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58106645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 205
(E205V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114144]
[ENSMUST00000163200]
[ENSMUST00000163897]
[ENSMUST00000165276]
[ENSMUST00000170421]
[ENSMUST00000215950]
[ENSMUST00000217578]
[ENSMUST00000214649]
[ENSMUST00000216231]
[ENSMUST00000217427]
[ENSMUST00000214647]
[ENSMUST00000217050]
[ENSMUST00000216297]
[ENSMUST00000217512]
|
| AlphaFold |
Q5RKR3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114144
AA Change: E205V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109781
Gene: ENSMUSG00000051243
AA Change: E205V
| 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: E249V
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000130879
Gene: ENSMUSG00000051243
AA Change: E249V
| 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: E205V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130322
Gene: ENSMUSG00000051243
AA Change: E205V
| 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: E205V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129328
Gene: ENSMUSG00000051243
AA Change: E205V
| 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: E205V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127228
Gene: ENSMUSG00000051243
AA Change: E205V
| 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: E205V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217578
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216359
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214649
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216231
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217158
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213495
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214647
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217050
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216297
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217512
|
| Meta Mutation Damage Score |
0.1556 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.9%
|
| Validation Efficiency |
96% (65/68) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
G |
10: 79,838,848 (GRCm39) |
W674G |
probably damaging |
Het |
| Abcc9 |
G |
A |
6: 142,638,606 (GRCm39) |
H103Y |
probably damaging |
Het |
| Ano7 |
A |
G |
1: 93,323,224 (GRCm39) |
N495S |
probably null |
Het |
| Aoc1l3 |
T |
A |
6: 48,964,965 (GRCm39) |
D324E |
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,889,584 (GRCm39) |
N488D |
probably benign |
Het |
| Astn2 |
A |
G |
4: 65,563,119 (GRCm39) |
|
probably benign |
Het |
| Atraid |
T |
A |
5: 31,209,796 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,767,083 (GRCm39) |
R866G |
probably damaging |
Het |
| Cep164 |
T |
A |
9: 45,688,234 (GRCm39) |
|
probably benign |
Het |
| Clec4f |
G |
A |
6: 83,629,776 (GRCm39) |
Q261* |
probably null |
Het |
| Cpne4 |
A |
T |
9: 104,563,640 (GRCm39) |
N6Y |
probably damaging |
Het |
| Dhx38 |
G |
T |
8: 110,289,293 (GRCm39) |
Q36K |
probably benign |
Het |
| Dna2 |
C |
A |
10: 62,793,910 (GRCm39) |
Q341K |
probably benign |
Het |
| Dynap |
A |
G |
18: 70,375,165 (GRCm39) |
|
probably benign |
Het |
| Eif3l |
T |
C |
15: 78,973,809 (GRCm39) |
V408A |
probably benign |
Het |
| Foxi3 |
T |
A |
6: 70,934,122 (GRCm39) |
I203N |
probably damaging |
Het |
| Gcc2 |
T |
A |
10: 58,134,511 (GRCm39) |
L1495Q |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,830,019 (GRCm39) |
D688G |
probably damaging |
Het |
| Hcfc2 |
C |
A |
10: 82,575,079 (GRCm39) |
T246K |
probably damaging |
Het |
| Hdc |
C |
T |
2: 126,458,152 (GRCm39) |
E57K |
probably benign |
Het |
| Iqsec3 |
G |
C |
6: 121,389,743 (GRCm39) |
|
probably benign |
Het |
| Klf9 |
T |
C |
19: 23,119,498 (GRCm39) |
L127P |
probably benign |
Het |
| Lamc2 |
A |
T |
1: 152,999,840 (GRCm39) |
L1173Q |
probably damaging |
Het |
| Lipe |
G |
A |
7: 25,097,901 (GRCm39) |
T14I |
possibly damaging |
Het |
| Lnpep |
A |
G |
17: 17,751,394 (GRCm39) |
|
probably benign |
Het |
| Lrrc15 |
A |
G |
16: 30,092,566 (GRCm39) |
S258P |
probably damaging |
Het |
| Macc1 |
A |
T |
12: 119,410,780 (GRCm39) |
Y516F |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,343,630 (GRCm39) |
T718A |
probably benign |
Het |
| Mtcl2 |
A |
G |
2: 156,862,612 (GRCm39) |
L1439P |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,111,445 (GRCm39) |
D1628G |
probably damaging |
Het |
| Naca |
C |
T |
10: 127,879,162 (GRCm39) |
T1398I |
probably benign |
Het |
| Or1f12 |
A |
G |
13: 21,721,416 (GRCm39) |
F238S |
possibly damaging |
Het |
| Or2a54 |
A |
T |
6: 43,093,150 (GRCm39) |
H158L |
possibly damaging |
Het |
| Padi4 |
A |
G |
4: 140,496,740 (GRCm39) |
V52A |
possibly damaging |
Het |
| Paqr5 |
G |
A |
9: 61,863,527 (GRCm39) |
T251I |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,768,967 (GRCm39) |
D1611G |
probably damaging |
Het |
| Prss12 |
G |
A |
3: 123,276,445 (GRCm39) |
R358K |
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,526,587 (GRCm39) |
H325Q |
probably damaging |
Het |
| Rbm12b1 |
A |
G |
4: 12,145,657 (GRCm39) |
H543R |
probably benign |
Het |
| Rc3h1 |
A |
T |
1: 160,795,228 (GRCm39) |
N1076I |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,415,088 (GRCm39) |
L2008P |
possibly damaging |
Het |
| Rsph3a |
A |
G |
17: 8,164,919 (GRCm39) |
H93R |
possibly damaging |
Het |
| Sbf1 |
C |
T |
15: 89,172,915 (GRCm39) |
R1840H |
probably damaging |
Het |
| Skic8 |
T |
A |
9: 54,630,219 (GRCm39) |
|
probably benign |
Het |
| Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9 |
T |
C |
8: 83,937,085 (GRCm39) |
S56P |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,561,346 (GRCm39) |
M1304L |
probably damaging |
Het |
| Tmprss11b |
G |
T |
5: 86,819,753 (GRCm39) |
R9S |
probably damaging |
Het |
| Tnfrsf21 |
T |
A |
17: 43,348,505 (GRCm39) |
I39N |
probably benign |
Het |
| Tnrc6b |
T |
C |
15: 80,763,604 (GRCm39) |
S369P |
probably benign |
Het |
| Tpra1 |
T |
C |
6: 88,887,372 (GRCm39) |
V217A |
probably benign |
Het |
| Uckl1 |
G |
C |
2: 181,212,283 (GRCm39) |
|
probably benign |
Het |
| Vmn1r199 |
A |
T |
13: 22,566,736 (GRCm39) |
Q10L |
probably benign |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,506 (GRCm39) |
S265P |
possibly damaging |
Het |
| Vwa5b1 |
A |
T |
4: 138,321,662 (GRCm39) |
L377Q |
probably damaging |
Het |
| Wrap73 |
A |
G |
4: 154,229,776 (GRCm39) |
D49G |
probably damaging |
Het |
| Zfp764 |
T |
A |
7: 127,004,051 (GRCm39) |
Q360L |
possibly damaging |
Het |
| Zfp846 |
G |
A |
9: 20,499,224 (GRCm39) |
|
probably benign |
Het |
| Zranb2 |
T |
C |
3: 157,240,096 (GRCm39) |
I14T |
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 |
|
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 |
|
|
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'- GCGACGCAATGTAACATGAAAGCC -3'
(R):5'- GCTGAAAATGAACCACAACCGTCTG -3'
Sequencing Primer
(F):5'- TGAAAGCCAAGCCTGCG -3'
(R):5'- AACCGTCTGGGATCGCTG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation