Incidental Mutation 'R9456:Lrrc8a'
ID |
714570 |
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 |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9456 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
30127781-30153802 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30145663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 159
(I159N)
|
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: I159N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092690 Gene: ENSMUSG00000007476 AA Change: I159N
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: I159N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109284 Gene: ENSMUSG00000007476 AA Change: I159N
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: I159N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139038 Gene: ENSMUSG00000099041 AA Change: I159N
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd3 |
T |
C |
18: 10,645,121 (GRCm39) |
D391G |
probably benign |
Het |
Arhgdia |
A |
C |
11: 120,470,068 (GRCm39) |
W202G |
probably damaging |
Het |
Atp2a3 |
A |
T |
11: 72,871,131 (GRCm39) |
D575V |
probably benign |
Het |
Cep350 |
C |
A |
1: 155,744,457 (GRCm39) |
V2121L |
probably benign |
Het |
Clcn2 |
CCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGC |
16: 20,534,702 (GRCm39) |
|
probably benign |
Het |
Cldn9 |
A |
T |
17: 23,902,556 (GRCm39) |
V23E |
probably damaging |
Het |
Cltc |
G |
A |
11: 86,593,237 (GRCm39) |
S1542F |
probably benign |
Het |
Cmbl |
A |
G |
15: 31,589,948 (GRCm39) |
D226G |
probably damaging |
Het |
Dennd4b |
C |
T |
3: 90,178,515 (GRCm39) |
T537I |
probably damaging |
Het |
Dnah7b |
C |
A |
1: 46,165,953 (GRCm39) |
D539E |
possibly damaging |
Het |
Fam219a |
T |
C |
4: 41,521,871 (GRCm39) |
T70A |
probably damaging |
Het |
Fat4 |
T |
A |
3: 38,942,571 (GRCm39) |
V488E |
possibly damaging |
Het |
Gm3336 |
A |
G |
8: 71,174,740 (GRCm39) |
*96W |
probably null |
Het |
Hectd1 |
A |
G |
12: 51,832,584 (GRCm39) |
I930T |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,506,053 (GRCm39) |
C3824* |
probably null |
Het |
Ift140 |
T |
C |
17: 25,254,758 (GRCm39) |
F413L |
probably benign |
Het |
Itfg1 |
A |
G |
8: 86,565,566 (GRCm39) |
V90A |
probably benign |
Het |
Jph4 |
A |
T |
14: 55,351,090 (GRCm39) |
W309R |
probably damaging |
Het |
Kdm2a |
C |
T |
19: 4,393,141 (GRCm39) |
D405N |
|
Het |
Klhl5 |
T |
C |
5: 65,305,939 (GRCm39) |
F302S |
probably damaging |
Het |
Klk1b8 |
T |
C |
7: 43,453,177 (GRCm39) |
M256T |
probably benign |
Het |
Klre1 |
A |
T |
6: 129,559,368 (GRCm39) |
R99S |
probably benign |
Het |
Krt79 |
T |
C |
15: 101,839,904 (GRCm39) |
T364A |
probably benign |
Het |
Lin7a |
C |
T |
10: 107,218,483 (GRCm39) |
P131L |
possibly damaging |
Het |
Lrrc49 |
A |
G |
9: 60,594,699 (GRCm39) |
Y9H |
probably benign |
Het |
Mdga2 |
T |
C |
12: 66,615,532 (GRCm39) |
S692G |
probably benign |
Het |
Myo15a |
G |
A |
11: 60,392,668 (GRCm39) |
V1017M |
|
Het |
Nol4 |
T |
C |
18: 23,172,897 (GRCm39) |
D68G |
probably benign |
Het |
Or4f53 |
T |
C |
2: 111,088,348 (GRCm39) |
V296A |
probably benign |
Het |
Or6c75 |
T |
C |
10: 129,337,515 (GRCm39) |
V254A |
probably damaging |
Het |
Pigw |
C |
A |
11: 84,768,040 (GRCm39) |
A430S |
probably benign |
Het |
Pla2g4c |
T |
C |
7: 13,077,900 (GRCm39) |
L356P |
probably damaging |
Het |
Prorp |
T |
C |
12: 55,385,015 (GRCm39) |
V410A |
probably damaging |
Het |
Prr5 |
A |
G |
15: 84,585,682 (GRCm39) |
T226A |
probably benign |
Het |
Pygo1 |
C |
T |
9: 72,833,056 (GRCm39) |
|
probably benign |
Het |
Rnf214 |
A |
G |
9: 45,779,286 (GRCm39) |
I333T |
possibly damaging |
Het |
Septin3 |
A |
G |
15: 82,167,352 (GRCm39) |
I86V |
probably benign |
Het |
Slc30a3 |
AGGGCTTACCTGAGCGG |
AGG |
5: 31,246,889 (GRCm39) |
|
probably null |
Het |
Socs5 |
C |
A |
17: 87,442,266 (GRCm39) |
T402K |
probably damaging |
Het |
Speer3 |
T |
A |
5: 13,846,368 (GRCm39) |
N229K |
|
Het |
Stk16 |
T |
C |
1: 75,187,804 (GRCm39) |
|
probably benign |
Het |
Taar7d |
T |
A |
10: 23,903,287 (GRCm39) |
F56L |
probably benign |
Het |
Tmprss2 |
C |
T |
16: 97,392,669 (GRCm39) |
V93I |
probably benign |
Het |
Tnpo2 |
G |
A |
8: 85,774,015 (GRCm39) |
E350K |
probably benign |
Het |
Tor1aip2 |
C |
T |
1: 155,937,525 (GRCm39) |
P87S |
possibly damaging |
Het |
Trgv7 |
A |
T |
13: 19,362,385 (GRCm39) |
R25* |
probably null |
Het |
Ush2a |
A |
G |
1: 188,558,589 (GRCm39) |
E3606G |
probably benign |
Het |
Zeb1 |
C |
T |
18: 5,766,709 (GRCm39) |
Q407* |
probably null |
Het |
Zfp609 |
A |
G |
9: 65,611,125 (GRCm39) |
S613P |
|
Het |
Zfp735 |
A |
G |
11: 73,602,403 (GRCm39) |
N449S |
possibly 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 |
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 |
Z1177:Lrrc8a
|
UTSW |
2 |
30,146,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCGACACCAGTACAACTACGTG -3'
(R):5'- TTCTCAAACAGGGCCTTCGC -3'
Sequencing Primer
(F):5'- CCAGTACAACTACGTGGATGCG -3'
(R):5'- AATCCGTGACTTGGTCCGCTG -3'
|
Posted On |
2022-06-15 |