Incidental Mutation 'R5616:Lrrc8a'
ID |
439519 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc8a
|
Ensembl Gene |
ENSMUSG00000007476 |
Gene Name |
leucine rich repeat containing 8A VRAC subunit A |
Synonyms |
ebo, Lrrc8, SWELL1 |
MMRRC Submission |
043159-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5616 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
30127781-30153802 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30145366 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 60
(V60A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139038
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095078]
[ENSMUST00000113654]
[ENSMUST00000139454]
|
AlphaFold |
Q80WG5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095078
AA Change: V60A
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000092690 Gene: ENSMUSG00000007476 AA Change: V60A
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 benign
Transcript: ENSMUST00000113654
AA Change: V60A
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000109284 Gene: ENSMUSG00000007476 AA Change: V60A
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 benign
Transcript: ENSMUST00000139454
AA Change: V60A
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000139038 Gene: ENSMUSG00000099041 AA Change: V60A
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 |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd3 |
A |
T |
3: 121,566,009 (GRCm39) |
D443E |
probably benign |
Het |
Arhgef5 |
A |
G |
6: 43,252,874 (GRCm39) |
D1037G |
probably benign |
Het |
B3glct |
T |
A |
5: 149,653,399 (GRCm39) |
L148* |
probably null |
Het |
Cacna1e |
G |
A |
1: 154,317,940 (GRCm39) |
P1481S |
probably damaging |
Het |
Cacna1h |
C |
A |
17: 25,596,641 (GRCm39) |
R117L |
probably damaging |
Het |
Cct6b |
A |
T |
11: 82,632,175 (GRCm39) |
V271E |
probably damaging |
Het |
Cenpf |
A |
G |
1: 189,389,483 (GRCm39) |
S1450P |
probably damaging |
Het |
Cul1 |
G |
A |
6: 47,500,722 (GRCm39) |
R707H |
probably damaging |
Het |
Dcakd |
A |
G |
11: 102,885,831 (GRCm39) |
L191P |
possibly damaging |
Het |
Dhx32 |
T |
C |
7: 133,322,957 (GRCm39) |
*612W |
probably null |
Het |
Disp1 |
T |
A |
1: 182,869,913 (GRCm39) |
T836S |
probably benign |
Het |
Dppa4 |
T |
A |
16: 48,111,393 (GRCm39) |
V126D |
probably damaging |
Het |
Fam98b |
A |
G |
2: 117,098,267 (GRCm39) |
T246A |
possibly damaging |
Het |
Fkbp4 |
A |
T |
6: 128,410,517 (GRCm39) |
V273E |
probably damaging |
Het |
Gpr31b |
A |
G |
17: 13,270,831 (GRCm39) |
Y113H |
probably damaging |
Het |
Gpr33 |
T |
C |
12: 52,070,377 (GRCm39) |
I221V |
probably damaging |
Het |
Klhl1 |
A |
G |
14: 96,755,729 (GRCm39) |
F9L |
probably benign |
Het |
Larp4b |
T |
A |
13: 9,208,695 (GRCm39) |
N449K |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,492,647 (GRCm39) |
S1363P |
probably damaging |
Het |
Matn3 |
A |
G |
12: 8,998,195 (GRCm39) |
H51R |
probably benign |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mtrf1 |
T |
C |
14: 79,638,885 (GRCm39) |
C6R |
possibly damaging |
Het |
Myh6 |
T |
C |
14: 55,194,038 (GRCm39) |
S784G |
probably benign |
Het |
Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
Nipal3 |
T |
C |
4: 135,179,715 (GRCm39) |
Y401C |
probably benign |
Het |
Pcdhb20 |
A |
G |
18: 37,637,585 (GRCm39) |
E37G |
probably damaging |
Het |
Pelp1 |
G |
A |
11: 70,285,688 (GRCm39) |
P727S |
possibly damaging |
Het |
Prkca |
T |
C |
11: 107,869,169 (GRCm39) |
D472G |
possibly damaging |
Het |
Ptprg |
A |
G |
14: 12,122,120 (GRCm38) |
H328R |
probably benign |
Het |
Rtl1 |
C |
T |
12: 109,559,173 (GRCm39) |
E889K |
unknown |
Het |
Rubcn |
T |
C |
16: 32,647,293 (GRCm39) |
D715G |
possibly damaging |
Het |
Snurf |
C |
T |
7: 59,649,133 (GRCm39) |
E15K |
possibly damaging |
Het |
Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
Srp72 |
T |
G |
5: 77,135,781 (GRCm39) |
L237R |
probably damaging |
Het |
Syne3 |
T |
C |
12: 104,921,937 (GRCm39) |
E406G |
probably damaging |
Het |
Tgm2 |
A |
G |
2: 157,970,640 (GRCm39) |
S340P |
probably damaging |
Het |
Trim41 |
GCCTAGGCGCCCA |
G |
11: 48,698,192 (GRCm39) |
|
probably benign |
Het |
Tsc22d1 |
T |
C |
14: 76,653,657 (GRCm39) |
|
probably benign |
Het |
Tsc22d2 |
G |
T |
3: 58,324,583 (GRCm39) |
|
probably benign |
Het |
Vmn1r42 |
T |
C |
6: 89,822,084 (GRCm39) |
I162V |
possibly damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,708,191 (GRCm39) |
|
probably null |
Het |
Wnt3 |
T |
C |
11: 103,703,596 (GRCm39) |
|
probably null |
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 |
IGL02390:Lrrc8a
|
APN |
2 |
30,146,713 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTGGTCCCTTTCAGGTTAAAC -3'
(R):5'- GGGGAAGTACTTGGCAAACC -3'
Sequencing Primer
(F):5'- CAGGTTAAACCATGATTCCGGTGAC -3'
(R):5'- AACCAATGCAGGCGGTTCTC -3'
|
Posted On |
2016-11-08 |