Incidental Mutation 'R6945:Lrrc8a'
ID |
540823 |
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 |
045059-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6945 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
30127781-30153802 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30146239 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 351
(Y351C)
|
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: Y351C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092690 Gene: ENSMUSG00000007476 AA Change: Y351C
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: Y351C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109284 Gene: ENSMUSG00000007476 AA Change: Y351C
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: Y351C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139038 Gene: ENSMUSG00000099041 AA Change: Y351C
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 |
0.6159 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
Validation Efficiency |
96% (51/53) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
T |
A |
16: 20,218,759 (GRCm39) |
T208S |
probably benign |
Het |
Acaa2 |
A |
G |
18: 74,926,380 (GRCm39) |
E112G |
probably benign |
Het |
Adgrb1 |
A |
G |
15: 74,421,873 (GRCm39) |
N881S |
probably damaging |
Het |
Adgre1 |
A |
G |
17: 57,717,844 (GRCm39) |
E314G |
probably benign |
Het |
Adgre1 |
A |
G |
17: 57,727,399 (GRCm39) |
E443G |
probably benign |
Het |
Akp3 |
A |
G |
1: 87,053,353 (GRCm39) |
Y102C |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,886,526 (GRCm39) |
N618S |
probably benign |
Het |
Bpifc |
A |
G |
10: 85,815,078 (GRCm39) |
V296A |
probably benign |
Het |
Cacna2d3 |
G |
A |
14: 28,691,275 (GRCm39) |
|
probably benign |
Het |
Cacnb4 |
T |
C |
2: 52,364,966 (GRCm39) |
N99S |
probably damaging |
Het |
Cd38 |
A |
G |
5: 44,065,348 (GRCm39) |
Y283C |
probably damaging |
Het |
Celf4 |
T |
A |
18: 25,629,293 (GRCm39) |
Q411L |
probably damaging |
Het |
Cemip |
A |
T |
7: 83,647,755 (GRCm39) |
H108Q |
probably damaging |
Het |
Col23a1 |
A |
G |
11: 51,452,720 (GRCm39) |
E225G |
unknown |
Het |
Dnah11 |
T |
C |
12: 118,024,045 (GRCm39) |
E1902G |
probably damaging |
Het |
Dst |
A |
G |
1: 34,229,571 (GRCm39) |
D2063G |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,823,184 (GRCm39) |
I6306L |
probably benign |
Het |
Furin |
A |
G |
7: 80,040,838 (GRCm39) |
S667P |
possibly damaging |
Het |
Glmp |
T |
A |
3: 88,233,139 (GRCm39) |
S92R |
probably benign |
Het |
Gm11563 |
C |
G |
11: 99,549,298 (GRCm39) |
C152S |
unknown |
Het |
Gm3486 |
A |
G |
14: 41,206,518 (GRCm39) |
V185A |
probably benign |
Het |
Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
Hyal1 |
C |
A |
9: 107,456,369 (GRCm39) |
A102E |
probably damaging |
Het |
Invs |
T |
C |
4: 48,421,785 (GRCm39) |
C806R |
probably benign |
Het |
L1td1 |
T |
C |
4: 98,621,933 (GRCm39) |
V165A |
probably benign |
Het |
Lama1 |
A |
G |
17: 68,120,861 (GRCm39) |
T2666A |
|
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Myh7b |
T |
C |
2: 155,464,152 (GRCm39) |
F551S |
possibly damaging |
Het |
Myo19 |
A |
G |
11: 84,788,386 (GRCm39) |
T333A |
probably benign |
Het |
Nrp2 |
A |
T |
1: 62,799,947 (GRCm39) |
N387I |
probably damaging |
Het |
Oas2 |
T |
C |
5: 120,874,204 (GRCm39) |
D543G |
probably benign |
Het |
Or2g25 |
A |
G |
17: 37,970,405 (GRCm39) |
I273T |
possibly damaging |
Het |
Or5al6 |
A |
G |
2: 85,976,428 (GRCm39) |
S217P |
probably damaging |
Het |
Pak5 |
A |
G |
2: 135,942,859 (GRCm39) |
V427A |
probably benign |
Het |
Pfas |
G |
A |
11: 68,891,356 (GRCm39) |
A247V |
probably benign |
Het |
Pramel52-ps |
C |
T |
5: 94,531,490 (GRCm39) |
H125Y |
possibly damaging |
Het |
Psat1 |
T |
A |
19: 15,894,545 (GRCm39) |
T115S |
probably benign |
Het |
Psme4 |
T |
A |
11: 30,787,437 (GRCm39) |
D1077E |
probably benign |
Het |
Rabgap1l |
A |
G |
1: 160,509,752 (GRCm39) |
S442P |
probably benign |
Het |
Ralgapa1 |
A |
G |
12: 55,822,976 (GRCm39) |
M280T |
possibly damaging |
Het |
Rb1cc1 |
A |
T |
1: 6,331,256 (GRCm39) |
E394D |
probably damaging |
Het |
Seh1l |
T |
C |
18: 67,922,460 (GRCm39) |
V271A |
probably benign |
Het |
Sf3b1 |
A |
T |
1: 55,036,315 (GRCm39) |
N919K |
probably benign |
Het |
Sftpd |
A |
G |
14: 40,896,449 (GRCm39) |
S245P |
possibly damaging |
Het |
Slc22a15 |
T |
C |
3: 101,831,430 (GRCm39) |
E2G |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,036,891 (GRCm39) |
D1134G |
possibly damaging |
Het |
Syna |
A |
G |
5: 134,587,815 (GRCm39) |
V378A |
probably damaging |
Het |
Tchp |
A |
G |
5: 114,847,411 (GRCm39) |
K77E |
possibly damaging |
Het |
Tescl |
T |
C |
7: 24,032,956 (GRCm39) |
N123S |
probably benign |
Het |
Trio |
C |
T |
15: 27,824,176 (GRCm39) |
R1443Q |
probably damaging |
Het |
Trrap |
A |
T |
5: 144,727,665 (GRCm39) |
Y462F |
possibly damaging |
Het |
Vmn1r78 |
A |
G |
7: 11,886,832 (GRCm39) |
T148A |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Zfp1007 |
A |
C |
5: 109,824,711 (GRCm39) |
N246K |
probably benign |
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 |
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'- GCTACACCGTCTACTATGTGC -3'
(R):5'- AGCGTCCACTCGTTGTTGAG -3'
Sequencing Primer
(F):5'- CATCAAGTTCGACGTGGACTG -3'
(R):5'- CCACTCGTTGTTGAGGTTCAGC -3'
|
Posted On |
2018-11-28 |