Incidental Mutation 'R3852:Lrrc8a'
| ID |
275947 |
| 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 |
040784-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3852 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
30127781-30153802 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30151972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 757
(T757M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091132]
[ENSMUST00000095078]
[ENSMUST00000113643]
[ENSMUST00000113645]
[ENSMUST00000113654]
[ENSMUST00000127689]
[ENSMUST00000139454]
[ENSMUST00000138254]
[ENSMUST00000139719]
[ENSMUST00000150695]
[ENSMUST00000133877]
[ENSMUST00000154647]
|
| AlphaFold |
Q80WG5 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000085290
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091132
|
| SMART Domains |
Protein: ENSMUSP00000088663
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
32 |
279 |
2.7e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095078
AA Change: T757M
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000092690
Gene: ENSMUSG00000007476
AA Change: T757M
| 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: ENSMUST00000113643
|
| SMART Domains |
Protein: ENSMUSP00000109273
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
12 |
238 |
9e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113645
|
| SMART Domains |
Protein: ENSMUSP00000109275
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
12 |
259 |
1.4e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113654
AA Change: T757M
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109284
Gene: ENSMUSG00000007476
AA Change: T757M
| 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: ENSMUST00000127689
|
| SMART Domains |
Protein: ENSMUSP00000119543
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
12 |
150 |
7.5e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139454
AA Change: T757M
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139038
Gene: ENSMUSG00000099041
AA Change: T757M
| 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: ENSMUST00000138254
|
| SMART Domains |
Protein: ENSMUSP00000116062
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
12 |
157 |
2.2e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139719
|
| SMART Domains |
Protein: ENSMUSP00000116450
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
12 |
217 |
4.5e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150695
|
| SMART Domains |
Protein: ENSMUSP00000121995
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
12 |
107 |
1.1e-16 |
PFAM |
|
Pfam:PhyH
|
104 |
212 |
7.2e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133877
|
| SMART Domains |
Protein: ENSMUSP00000117643
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
8 |
249 |
9.3e-70 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154647
|
| SMART Domains |
Protein: ENSMUSP00000121371
Gene: ENSMUSG00000079484
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
12 |
259 |
1.4e-73 |
PFAM |
|
| Meta Mutation Damage Score |
0.0902 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
96% (45/47) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
C |
16: 20,379,189 (GRCm39) |
V685A |
probably damaging |
Het |
| Abhd4 |
T |
C |
14: 54,502,824 (GRCm39) |
Y44H |
probably damaging |
Het |
| AI429214 |
A |
G |
8: 37,461,596 (GRCm39) |
D248G |
probably damaging |
Het |
| Aoc1l3 |
C |
T |
6: 48,964,928 (GRCm39) |
P312L |
possibly damaging |
Het |
| AY358078 |
A |
G |
14: 52,043,010 (GRCm39) |
T233A |
unknown |
Het |
| Calcr |
T |
C |
6: 3,693,735 (GRCm39) |
Y353C |
probably damaging |
Het |
| Ccdc34 |
A |
G |
2: 109,862,773 (GRCm39) |
K193E |
possibly damaging |
Het |
| Dhcr24 |
A |
G |
4: 106,431,070 (GRCm39) |
E253G |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,104,910 (GRCm39) |
V1841A |
possibly damaging |
Het |
| Dpp10 |
A |
T |
1: 123,413,653 (GRCm39) |
Y186* |
probably null |
Het |
| Dpysl4 |
C |
T |
7: 138,680,851 (GRCm39) |
T575M |
probably damaging |
Het |
| Dusp7 |
T |
A |
9: 106,251,092 (GRCm39) |
S406T |
probably benign |
Het |
| Gga3 |
T |
A |
11: 115,478,368 (GRCm39) |
T475S |
probably benign |
Het |
| Gm10271 |
T |
A |
10: 116,792,779 (GRCm39) |
K36* |
probably null |
Het |
| Gm572 |
G |
A |
4: 148,753,329 (GRCm39) |
E325K |
possibly damaging |
Het |
| Golga2 |
A |
G |
2: 32,195,623 (GRCm39) |
E806G |
probably benign |
Het |
| Igf1 |
A |
T |
10: 87,751,181 (GRCm39) |
K126* |
probably null |
Het |
| Itpkc |
A |
T |
7: 26,927,037 (GRCm39) |
N292K |
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,517,641 (GRCm39) |
M345K |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,367,909 (GRCm39) |
V201A |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,216,453 (GRCm39) |
I459K |
probably benign |
Het |
| Mrps11 |
T |
C |
7: 78,440,393 (GRCm39) |
I94T |
probably damaging |
Het |
| Ms4a4c |
T |
A |
19: 11,393,759 (GRCm39) |
S68T |
probably benign |
Het |
| Mstn |
C |
T |
1: 53,101,130 (GRCm39) |
T69I |
possibly damaging |
Het |
| Myo10 |
A |
G |
15: 25,779,712 (GRCm39) |
K28E |
probably damaging |
Het |
| Nol6 |
A |
G |
4: 41,117,452 (GRCm39) |
S914P |
probably damaging |
Het |
| Ntn1 |
C |
G |
11: 68,276,619 (GRCm39) |
D110H |
probably damaging |
Het |
| Or51f1e |
T |
C |
7: 102,747,391 (GRCm39) |
S148P |
probably damaging |
Het |
| Or52b4 |
C |
A |
7: 102,184,487 (GRCm39) |
H178N |
probably benign |
Het |
| Pcdh17 |
C |
T |
14: 84,684,699 (GRCm39) |
Q389* |
probably null |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,987,689 (GRCm39) |
E602G |
probably damaging |
Het |
| Rusc2 |
C |
A |
4: 43,416,424 (GRCm39) |
Q577K |
probably benign |
Het |
| Sacm1l |
T |
A |
9: 123,416,641 (GRCm39) |
M534K |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slco4a1 |
C |
T |
2: 180,105,884 (GRCm39) |
T22M |
probably benign |
Het |
| Tas2r104 |
A |
T |
6: 131,661,888 (GRCm39) |
C274S |
probably benign |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Trim43c |
T |
A |
9: 88,722,454 (GRCm39) |
H33Q |
probably damaging |
Het |
| Ttc17 |
A |
T |
2: 94,199,758 (GRCm39) |
I411K |
possibly damaging |
Het |
| Ttn |
G |
T |
2: 76,581,678 (GRCm39) |
L23072I |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,785,368 (GRCm39) |
V669G |
possibly damaging |
Het |
| Vmn1r60 |
A |
T |
7: 5,548,026 (GRCm39) |
F25I |
possibly damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,995,997 (GRCm39) |
I217T |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGAAAGCCCTGTCCAGC -3'
(R):5'- TAGTCTCAGAGGTTCTGGTCTC -3'
Sequencing Primer
(F):5'- AAGCCCTGTCCAGCCATGC -3'
(R):5'- GTCTCCAGCAAGTGCCTGTC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation