Incidental Mutation 'IGL02390:Lrrc8a'
| ID |
294241 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc8a
|
| Ensembl Gene |
ENSMUSG00000007476 |
| Gene Name |
leucine rich repeat containing 8A VRAC subunit A |
| Synonyms |
ebo, Lrrc8, SWELL1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02390
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30127781-30153802 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 30146713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 509
(P509Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095078]
[ENSMUST00000113654]
[ENSMUST00000139454]
|
| AlphaFold |
Q80WG5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095078
AA Change: P509Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092690
Gene: ENSMUSG00000007476
AA Change: P509Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pannexin_like
|
1 |
340 |
1.4e-146 |
PFAM |
|
low complexity region
|
445 |
455 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
461 |
526 |
7.6e-5 |
PROSPERO |
|
low complexity region
|
540 |
558 |
N/A |
INTRINSIC |
|
LRR
|
590 |
613 |
5.41e0 |
SMART |
|
LRR
|
614 |
636 |
3.18e2 |
SMART |
|
LRR
|
638 |
660 |
6.78e1 |
SMART |
|
LRR_TYP
|
661 |
684 |
1.06e-4 |
SMART |
|
LRR
|
685 |
706 |
1.15e1 |
SMART |
|
LRR_TYP
|
707 |
730 |
1.92e-2 |
SMART |
|
LRR
|
731 |
751 |
1.81e2 |
SMART |
|
LRR
|
753 |
776 |
2.02e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113654
AA Change: P509Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109284
Gene: ENSMUSG00000007476
AA Change: P509Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3733
|
1 |
65 |
3.3e-32 |
PFAM |
|
Pfam:DUF3733
|
97 |
156 |
2e-22 |
PFAM |
|
transmembrane domain
|
320 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
455 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
461 |
526 |
7.6e-5 |
PROSPERO |
|
low complexity region
|
540 |
558 |
N/A |
INTRINSIC |
|
LRR
|
590 |
613 |
5.41e0 |
SMART |
|
LRR
|
614 |
636 |
3.18e2 |
SMART |
|
LRR
|
638 |
660 |
6.78e1 |
SMART |
|
LRR_TYP
|
661 |
684 |
1.06e-4 |
SMART |
|
LRR
|
685 |
706 |
1.15e1 |
SMART |
|
LRR_TYP
|
707 |
730 |
1.92e-2 |
SMART |
|
LRR
|
731 |
751 |
1.81e2 |
SMART |
|
LRR
|
753 |
776 |
2.02e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139454
AA Change: P509Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139038
Gene: ENSMUSG00000099041
AA Change: P509Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3733
|
1 |
65 |
3.3e-32 |
PFAM |
|
Pfam:DUF3733
|
97 |
156 |
2e-22 |
PFAM |
|
transmembrane domain
|
320 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
455 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
461 |
526 |
7.6e-5 |
PROSPERO |
|
low complexity region
|
540 |
558 |
N/A |
INTRINSIC |
|
LRR
|
590 |
613 |
5.41e0 |
SMART |
|
LRR
|
614 |
636 |
3.18e2 |
SMART |
|
LRR
|
638 |
660 |
6.78e1 |
SMART |
|
LRR_TYP
|
661 |
684 |
1.06e-4 |
SMART |
|
LRR
|
685 |
706 |
1.15e1 |
SMART |
|
LRR_TYP
|
707 |
730 |
1.92e-2 |
SMART |
|
LRR
|
731 |
751 |
1.81e2 |
SMART |
|
LRR
|
753 |
776 |
2.02e-1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous for a knock-out allele exhibit prenatal lethality and premature death, growth retardation, sterility, multiple tissue abnormalities, a severe block in early thymic development, and impaired peripheral T cell function. B cell development is modestly impaired but B cell function is normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,187,377 (GRCm39) |
K894R |
probably benign |
Het |
| Ampd1 |
C |
T |
3: 102,986,357 (GRCm39) |
A12V |
probably benign |
Het |
| Ano4 |
T |
A |
10: 88,860,843 (GRCm39) |
D345V |
possibly damaging |
Het |
| Arl6 |
A |
G |
16: 59,441,580 (GRCm39) |
|
probably null |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Atrn |
C |
T |
2: 130,862,897 (GRCm39) |
P1326S |
possibly damaging |
Het |
| Btbd9 |
A |
G |
17: 30,743,788 (GRCm39) |
V238A |
probably benign |
Het |
| Cdh16 |
T |
C |
8: 105,348,606 (GRCm39) |
T141A |
probably damaging |
Het |
| Cetn4 |
T |
C |
3: 37,363,305 (GRCm39) |
D102G |
probably damaging |
Het |
| Col5a3 |
T |
A |
9: 20,688,292 (GRCm39) |
N1256I |
unknown |
Het |
| Cyfip2 |
A |
G |
11: 46,112,225 (GRCm39) |
F993L |
possibly damaging |
Het |
| Dcaf6 |
T |
A |
1: 165,250,490 (GRCm39) |
I125F |
possibly damaging |
Het |
| Dclk2 |
A |
C |
3: 86,731,990 (GRCm39) |
S336A |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 31,049,819 (GRCm39) |
V4327I |
probably benign |
Het |
| Ebna1bp2 |
T |
C |
4: 118,478,694 (GRCm39) |
V59A |
possibly damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| F2 |
A |
T |
2: 91,463,332 (GRCm39) |
V184D |
possibly damaging |
Het |
| Fbxo38 |
C |
T |
18: 62,666,660 (GRCm39) |
R171H |
probably damaging |
Het |
| Fhod3 |
A |
C |
18: 25,199,332 (GRCm39) |
S668R |
probably benign |
Het |
| Fkbp10 |
T |
A |
11: 100,306,843 (GRCm39) |
F78L |
probably damaging |
Het |
| Garre1 |
T |
C |
7: 33,947,643 (GRCm39) |
D455G |
probably damaging |
Het |
| Hyi |
C |
T |
4: 118,219,810 (GRCm39) |
R254C |
probably benign |
Het |
| Igfl3 |
A |
T |
7: 17,915,659 (GRCm39) |
|
probably benign |
Het |
| Lgals9 |
T |
A |
11: 78,854,361 (GRCm39) |
I308F |
probably damaging |
Het |
| Mapkap1 |
T |
A |
2: 34,322,101 (GRCm39) |
N6K |
probably damaging |
Het |
| Mdh1b |
T |
A |
1: 63,760,716 (GRCm39) |
H115L |
probably benign |
Het |
| Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
| Mrpl15 |
T |
C |
1: 4,855,837 (GRCm39) |
S22G |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,456,761 (GRCm39) |
Y616H |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,302,502 (GRCm39) |
|
probably benign |
Het |
| Olig1 |
C |
A |
16: 91,067,041 (GRCm39) |
Q93K |
probably damaging |
Het |
| Or13d1 |
T |
A |
4: 52,971,263 (GRCm39) |
I214N |
probably damaging |
Het |
| Or1o1 |
A |
T |
17: 37,716,986 (GRCm39) |
L182F |
probably benign |
Het |
| Or4f59 |
A |
T |
2: 111,873,056 (GRCm39) |
V107E |
possibly damaging |
Het |
| Otoa |
C |
A |
7: 120,730,590 (GRCm39) |
L597M |
possibly damaging |
Het |
| Parp16 |
C |
T |
9: 65,141,051 (GRCm39) |
P207L |
possibly damaging |
Het |
| Pbrm1 |
T |
A |
14: 30,754,467 (GRCm39) |
D162E |
probably benign |
Het |
| Pramel21 |
T |
A |
4: 143,341,895 (GRCm39) |
M108K |
probably benign |
Het |
| Prdm10 |
A |
G |
9: 31,264,685 (GRCm39) |
I658V |
possibly damaging |
Het |
| Psg21 |
A |
T |
7: 18,386,556 (GRCm39) |
H143Q |
probably benign |
Het |
| Rfx4 |
C |
T |
10: 84,676,014 (GRCm39) |
R28W |
probably damaging |
Het |
| Sart1 |
T |
G |
19: 5,430,489 (GRCm39) |
M753L |
possibly damaging |
Het |
| Smcr8 |
T |
A |
11: 60,670,548 (GRCm39) |
D565E |
probably benign |
Het |
| Smyd4 |
T |
A |
11: 75,278,332 (GRCm39) |
|
probably null |
Het |
| Sned1 |
T |
C |
1: 93,189,386 (GRCm39) |
V274A |
probably benign |
Het |
| Tbc1d13 |
T |
C |
2: 30,027,399 (GRCm39) |
|
probably benign |
Het |
| Tox |
A |
T |
4: 6,697,534 (GRCm39) |
I423N |
possibly damaging |
Het |
| Tsc2 |
A |
T |
17: 24,819,427 (GRCm39) |
V1232D |
probably damaging |
Het |
| Uckl1 |
C |
T |
2: 181,216,212 (GRCm39) |
V178I |
possibly damaging |
Het |
| Usp13 |
T |
A |
3: 32,985,865 (GRCm39) |
Y175* |
probably null |
Het |
| Vwde |
A |
G |
6: 13,190,684 (GRCm39) |
V469A |
probably damaging |
Het |
|
| Other mutations in Lrrc8a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00693:Lrrc8a
|
APN |
2 |
30,145,327 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01161:Lrrc8a
|
APN |
2 |
30,145,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01419:Lrrc8a
|
APN |
2 |
30,147,111 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01757:Lrrc8a
|
APN |
2 |
30,145,537 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02608:Lrrc8a
|
APN |
2 |
30,146,311 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02938:Lrrc8a
|
APN |
2 |
30,145,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02960:Lrrc8a
|
APN |
2 |
30,147,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03139:Lrrc8a
|
APN |
2 |
30,145,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03166:Lrrc8a
|
APN |
2 |
30,145,377 (GRCm39) |
missense |
probably benign |
|
|
R0033:Lrrc8a
|
UTSW |
2 |
30,145,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0033:Lrrc8a
|
UTSW |
2 |
30,145,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Lrrc8a
|
UTSW |
2 |
30,146,800 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0432:Lrrc8a
|
UTSW |
2 |
30,147,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0751:Lrrc8a
|
UTSW |
2 |
30,146,362 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1924:Lrrc8a
|
UTSW |
2 |
30,145,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2029:Lrrc8a
|
UTSW |
2 |
30,146,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3852:Lrrc8a
|
UTSW |
2 |
30,151,972 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4898:Lrrc8a
|
UTSW |
2 |
30,147,214 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5175:Lrrc8a
|
UTSW |
2 |
30,145,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5616:Lrrc8a
|
UTSW |
2 |
30,145,366 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5874:Lrrc8a
|
UTSW |
2 |
30,147,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6228:Lrrc8a
|
UTSW |
2 |
30,146,565 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6406:Lrrc8a
|
UTSW |
2 |
30,147,103 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6456:Lrrc8a
|
UTSW |
2 |
30,145,486 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6833:Lrrc8a
|
UTSW |
2 |
30,145,659 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6834:Lrrc8a
|
UTSW |
2 |
30,145,659 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6945:Lrrc8a
|
UTSW |
2 |
30,146,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7675:Lrrc8a
|
UTSW |
2 |
30,145,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8500:Lrrc8a
|
UTSW |
2 |
30,146,208 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8528:Lrrc8a
|
UTSW |
2 |
30,145,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8734:Lrrc8a
|
UTSW |
2 |
30,146,619 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8879:Lrrc8a
|
UTSW |
2 |
30,146,310 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9112:Lrrc8a
|
UTSW |
2 |
30,145,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9130:Lrrc8a
|
UTSW |
2 |
30,147,042 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9456:Lrrc8a
|
UTSW |
2 |
30,145,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Lrrc8a
|
UTSW |
2 |
30,146,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation