Incidental Mutation 'R4205:Lrrc26'
| ID |
318856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc26
|
| Ensembl Gene |
ENSMUSG00000026961 |
| Gene Name |
leucine rich repeat containing 26 |
| Synonyms |
|
| MMRRC Submission |
041034-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R4205 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25179927-25181192 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 25180170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 57
(C57F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028335]
[ENSMUST00000028337]
[ENSMUST00000028340]
[ENSMUST00000028341]
[ENSMUST00000114307]
[ENSMUST00000114308]
[ENSMUST00000114310]
[ENSMUST00000114312]
[ENSMUST00000114317]
[ENSMUST00000114314]
[ENSMUST00000114318]
|
| AlphaFold |
Q91W20 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028335
|
| SMART Domains |
Protein: ENSMUSP00000028335
Gene: ENSMUSG00000026959
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
357 |
6.6e-35 |
PFAM |
|
PBPe
|
433 |
795 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
439 |
507 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
835 |
863 |
1.5e-18 |
PFAM |
|
PDB:3BYA|B
|
875 |
898 |
4e-6 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028337
AA Change: C57F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028337
Gene: ENSMUSG00000026961
AA Change: C57F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
LRRNT
|
42 |
75 |
1.86e0 |
SMART |
|
LRR
|
72 |
93 |
7.57e0 |
SMART |
|
LRR
|
95 |
117 |
6.96e0 |
SMART |
|
LRR_TYP
|
118 |
141 |
1e-5 |
SMART |
|
LRR
|
142 |
165 |
6.22e0 |
SMART |
|
LRR
|
166 |
189 |
2.86e-1 |
SMART |
|
LRRCT
|
201 |
254 |
3.01e-5 |
SMART |
|
transmembrane domain
|
267 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
308 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028340
|
| SMART Domains |
Protein: ENSMUSP00000028340
Gene: ENSMUSG00000026963
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:TMEM210
|
32 |
144 |
1.1e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028341
|
| SMART Domains |
Protein: ENSMUSP00000028341
Gene: ENSMUSG00000026965
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
467 |
N/A |
INTRINSIC |
|
CULLIN
|
515 |
663 |
6.72e-9 |
SMART |
|
APC2
|
772 |
832 |
3.67e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114307
|
| SMART Domains |
Protein: ENSMUSP00000109946
Gene: ENSMUSG00000026959
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
357 |
1e-34 |
PFAM |
|
PBPe
|
433 |
795 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
439 |
507 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
835 |
863 |
3.2e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114308
|
| SMART Domains |
Protein: ENSMUSP00000109947
Gene: ENSMUSG00000026959
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
378 |
8e-31 |
PFAM |
|
PBPe
|
454 |
816 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
460 |
528 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
856 |
884 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114310
|
| SMART Domains |
Protein: ENSMUSP00000109949
Gene: ENSMUSG00000026959
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
39 |
299 |
3.6e-24 |
PFAM |
|
Blast:PBPe
|
352 |
420 |
9e-37 |
BLAST |
|
PBPe
|
454 |
816 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
460 |
528 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
856 |
884 |
8.4e-17 |
PFAM |
|
PDB:3BYA|B
|
896 |
919 |
4e-6 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127171
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144102
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114312
|
| SMART Domains |
Protein: ENSMUSP00000109951
Gene: ENSMUSG00000026959
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
357 |
5.9e-35 |
PFAM |
|
PBPe
|
433 |
795 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
439 |
507 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
835 |
863 |
1.4e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114317
|
| SMART Domains |
Protein: ENSMUSP00000109956
Gene: ENSMUSG00000026959
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
378 |
7.7e-31 |
PFAM |
|
PBPe
|
454 |
816 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
460 |
528 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
856 |
884 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114314
|
| SMART Domains |
Protein: ENSMUSP00000109953
Gene: ENSMUSG00000026959
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
357 |
1.1e-34 |
PFAM |
|
PBPe
|
433 |
795 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
439 |
507 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
835 |
863 |
3.3e-19 |
PFAM |
|
PDB:3BYA|B
|
875 |
898 |
4e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114318
|
| SMART Domains |
Protein: ENSMUSP00000109957
Gene: ENSMUSG00000026959
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
378 |
8.4e-31 |
PFAM |
|
PBPe
|
454 |
816 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
460 |
528 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
856 |
884 |
3.4e-19 |
PFAM |
|
PDB:3BYA|B
|
896 |
919 |
4e-6 |
PDB |
|
| Meta Mutation Damage Score |
0.6328 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
PHENOTYPE: The gene product is part of BK ion channels in secretory epithelial cells. Homozygous knockout results in significantly reduced K+ efflux from salivary glands. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
G |
T |
7: 143,422,964 (GRCm39) |
V17L |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,260,667 (GRCm39) |
I294T |
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,438,282 (GRCm39) |
T1037M |
possibly damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,250,766 (GRCm39) |
T506A |
possibly damaging |
Het |
| Bclaf3 |
T |
A |
X: 158,336,829 (GRCm39) |
S419T |
probably damaging |
Het |
| Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
| Cdhr1 |
G |
T |
14: 36,802,461 (GRCm39) |
F667L |
probably benign |
Het |
| Csrp1 |
T |
G |
1: 135,673,065 (GRCm39) |
C61G |
probably damaging |
Het |
| Dmrtc2 |
C |
T |
7: 24,575,231 (GRCm39) |
Q275* |
probably null |
Het |
| Dsg1b |
A |
T |
18: 20,541,878 (GRCm39) |
D795V |
probably damaging |
Het |
| Elavl1 |
A |
G |
8: 4,339,851 (GRCm39) |
W244R |
probably damaging |
Het |
| Emilin1 |
T |
C |
5: 31,077,243 (GRCm39) |
|
probably benign |
Het |
| Fam20c |
T |
G |
5: 138,741,431 (GRCm39) |
L14R |
probably damaging |
Het |
| Glt1d1 |
G |
T |
5: 127,766,935 (GRCm39) |
R217L |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,344,358 (GRCm39) |
R223H |
probably benign |
Het |
| Maml1 |
A |
T |
11: 50,148,740 (GRCm39) |
L1000Q |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,464,449 (GRCm39) |
Y125C |
probably damaging |
Het |
| Mapk1 |
T |
C |
16: 16,856,321 (GRCm39) |
|
probably benign |
Het |
| Mocos |
G |
A |
18: 24,799,248 (GRCm39) |
V161M |
possibly damaging |
Het |
| Or4c108 |
A |
G |
2: 88,803,482 (GRCm39) |
V251A |
probably benign |
Het |
| Pcdhgb5 |
A |
G |
18: 37,865,716 (GRCm39) |
N504D |
possibly damaging |
Het |
| Pcx |
G |
A |
19: 4,669,194 (GRCm39) |
V731M |
possibly damaging |
Het |
| Ppfibp1 |
C |
A |
6: 146,931,079 (GRCm39) |
S878R |
probably damaging |
Het |
| Ptprh |
C |
A |
7: 4,600,991 (GRCm39) |
G129W |
probably damaging |
Het |
| Rasal1 |
T |
C |
5: 120,797,628 (GRCm39) |
V120A |
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Rtn4rl1 |
A |
T |
11: 75,156,809 (GRCm39) |
I414F |
probably damaging |
Het |
| Rtn4rl1 |
C |
A |
11: 75,156,818 (GRCm39) |
P417T |
probably damaging |
Het |
| Shank3 |
T |
C |
15: 89,387,521 (GRCm39) |
L230P |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Taar9 |
C |
T |
10: 23,984,477 (GRCm39) |
R319H |
possibly damaging |
Het |
| Tbck |
T |
A |
3: 132,543,789 (GRCm39) |
I880N |
probably benign |
Het |
| Tsku |
C |
T |
7: 98,002,205 (GRCm39) |
R42H |
probably damaging |
Het |
| Tyr |
A |
G |
7: 87,078,276 (GRCm39) |
L528P |
possibly damaging |
Het |
| Zc3h13 |
A |
G |
14: 75,565,041 (GRCm39) |
D718G |
unknown |
Het |
|
| Other mutations in Lrrc26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02317:Lrrc26
|
APN |
2 |
25,180,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Lrrc26
|
UTSW |
2 |
25,180,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5699:Lrrc26
|
UTSW |
2 |
25,180,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6277:Lrrc26
|
UTSW |
2 |
25,180,116 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7054:Lrrc26
|
UTSW |
2 |
25,180,087 (GRCm39) |
missense |
probably benign |
|
|
R7363:Lrrc26
|
UTSW |
2 |
25,180,581 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7517:Lrrc26
|
UTSW |
2 |
25,180,545 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8988:Lrrc26
|
UTSW |
2 |
25,180,286 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9082:Lrrc26
|
UTSW |
2 |
25,180,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9479:Lrrc26
|
UTSW |
2 |
25,180,571 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGACAGAAACTGTTGTGTTAG -3'
(R):5'- AGGTCCAGCCATTGCAACAC -3'
Sequencing Primer
(F):5'- GCAGGAGAGTTAATACTTGTGC -3'
(R):5'- GACCCCAGAAAGCTCGTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation