Incidental Mutation 'R7675:Lrrc8a'
ID |
592409 |
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 |
045706-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7675 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
30127781-30153802 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 30145680 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 165
(D165N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095078]
[ENSMUST00000113654]
[ENSMUST00000139454]
|
AlphaFold |
Q80WG5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095078
AA Change: D165N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000092690 Gene: ENSMUSG00000007476 AA Change: D165N
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: D165N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109284 Gene: ENSMUSG00000007476 AA Change: D165N
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: D165N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139038 Gene: ENSMUSG00000099041 AA Change: D165N
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 |
|
Meta Mutation Damage Score |
0.3810 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
97% (28/29) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010109A12Rik |
T |
C |
5: 93,361,233 (GRCm39) |
S96P |
unknown |
Het |
Acaca |
A |
G |
11: 84,206,742 (GRCm39) |
E1534G |
probably benign |
Het |
Adam7 |
A |
T |
14: 68,737,302 (GRCm39) |
D773E |
probably benign |
Het |
Cacna1s |
T |
A |
1: 136,038,612 (GRCm39) |
I1398N |
probably damaging |
Het |
Calu |
C |
T |
6: 29,356,516 (GRCm39) |
T14I |
probably benign |
Het |
Casp8 |
A |
G |
1: 58,863,106 (GRCm39) |
D2G |
possibly damaging |
Het |
Cldn1 |
T |
C |
16: 26,190,261 (GRCm39) |
N39S |
probably benign |
Het |
Clspn |
T |
C |
4: 126,460,113 (GRCm39) |
S447P |
probably benign |
Het |
Eef2k |
A |
G |
7: 120,457,727 (GRCm39) |
T29A |
probably benign |
Het |
Gm5519 |
G |
C |
19: 33,802,428 (GRCm39) |
G157A |
probably benign |
Het |
Gucy2c |
A |
G |
6: 136,693,030 (GRCm39) |
V723A |
possibly damaging |
Het |
Ighv1-69 |
A |
T |
12: 115,587,209 (GRCm39) |
W3R |
probably damaging |
Het |
Inava |
G |
T |
1: 136,143,741 (GRCm39) |
A565E |
probably benign |
Het |
Krtap16-1 |
A |
G |
11: 99,876,259 (GRCm39) |
C382R |
possibly damaging |
Het |
Mideas |
G |
T |
12: 84,220,574 (GRCm39) |
P127T |
probably damaging |
Het |
Naaladl2 |
T |
A |
3: 24,605,816 (GRCm39) |
M148L |
probably benign |
Het |
Nphp3 |
A |
T |
9: 103,893,287 (GRCm39) |
E424D |
probably benign |
Het |
Prpf40a |
T |
C |
2: 53,035,648 (GRCm39) |
K714R |
possibly damaging |
Het |
Ptpn23 |
A |
T |
9: 110,216,094 (GRCm39) |
L1254* |
probably null |
Het |
Sap30l |
A |
G |
11: 57,700,867 (GRCm39) |
K174E |
probably damaging |
Het |
Serpinb9d |
C |
T |
13: 33,386,759 (GRCm39) |
Q276* |
probably null |
Het |
Sp140l2 |
C |
T |
1: 85,224,736 (GRCm39) |
M266I |
probably benign |
Het |
Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
Tex14 |
A |
G |
11: 87,400,504 (GRCm39) |
D432G |
probably damaging |
Het |
Tmsb10b |
A |
T |
7: 24,561,784 (GRCm39) |
T28S |
probably benign |
Het |
Unc119 |
G |
A |
11: 78,234,423 (GRCm39) |
G11R |
probably damaging |
Het |
Usp36 |
A |
G |
11: 118,154,522 (GRCm39) |
V965A |
probably benign |
Het |
Vmn2r4 |
A |
T |
3: 64,322,657 (GRCm39) |
Y21N |
probably benign |
Het |
Zbtb38 |
G |
T |
9: 96,567,594 (GRCm39) |
D1163E |
probably benign |
Het |
Zfp62 |
A |
G |
11: 49,106,847 (GRCm39) |
I313V |
possibly damaging |
Het |
Zfp980 |
C |
T |
4: 145,428,164 (GRCm39) |
Q298* |
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 |
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 |
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'- AACTACGTGGATGCGGTGTG -3'
(R):5'- TTCTCAAACAGGGCCTTCGC -3'
Sequencing Primer
(F):5'- TGCGGTGTGCTACGAGAAC -3'
(R):5'- AGTACGCCCGTCTCCGATC -3'
|
Posted On |
2019-11-12 |