Incidental Mutation 'R7517:Lrrc26'
ID |
582502 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc26
|
Ensembl Gene |
ENSMUSG00000026961 |
Gene Name |
leucine rich repeat containing 26 |
Synonyms |
|
MMRRC Submission |
045590-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.145)
|
Stock # |
R7517 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
25179927-25181192 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25180545 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 182
(I182T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028337
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028335]
[ENSMUST00000028337]
[ENSMUST00000028340]
[ENSMUST00000028341]
[ENSMUST00000114307]
[ENSMUST00000114308]
[ENSMUST00000114310]
[ENSMUST00000114312]
[ENSMUST00000114314]
[ENSMUST00000114317]
[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 benign
Transcript: ENSMUST00000028337
AA Change: I182T
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000028337 Gene: ENSMUSG00000026961 AA Change: I182T
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 |
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: 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: 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: 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 |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (46/46) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd28 |
A |
T |
14: 31,437,331 (GRCm39) |
V578E |
possibly damaging |
Het |
Arhgap35 |
A |
T |
7: 16,296,132 (GRCm39) |
C978S |
probably benign |
Het |
Asph |
A |
T |
4: 9,517,697 (GRCm39) |
V475E |
probably damaging |
Het |
Atf7ip2 |
T |
A |
16: 10,059,399 (GRCm39) |
|
probably null |
Het |
Bace1 |
A |
T |
9: 45,771,559 (GRCm39) |
D491V |
probably benign |
Het |
Birc2 |
A |
G |
9: 7,819,424 (GRCm39) |
I496T |
probably benign |
Het |
Cacna2d4 |
C |
T |
6: 119,248,882 (GRCm39) |
R448C |
probably benign |
Het |
Ccdc181 |
T |
C |
1: 164,107,989 (GRCm39) |
F224S |
probably damaging |
Het |
Cdan1 |
C |
T |
2: 120,558,405 (GRCm39) |
R469Q |
probably damaging |
Het |
Ddx21 |
G |
A |
10: 62,424,569 (GRCm39) |
P544L |
probably damaging |
Het |
Epas1 |
C |
A |
17: 87,138,526 (GRCm39) |
T874N |
possibly damaging |
Het |
Fam13b |
A |
T |
18: 34,627,660 (GRCm39) |
D180E |
probably damaging |
Het |
Fcgbp |
G |
A |
7: 27,784,794 (GRCm39) |
V285M |
probably damaging |
Het |
Gcn1 |
T |
G |
5: 115,757,755 (GRCm39) |
L2487V |
probably benign |
Het |
Gm19410 |
C |
T |
8: 36,240,772 (GRCm39) |
A216V |
possibly damaging |
Het |
Gm4871 |
G |
T |
5: 144,969,430 (GRCm39) |
R30S |
probably damaging |
Het |
Gtf2ird1 |
T |
C |
5: 134,391,379 (GRCm39) |
D899G |
probably benign |
Het |
Hipk3 |
T |
C |
2: 104,265,059 (GRCm39) |
T674A |
probably benign |
Het |
Hnrnph3 |
A |
G |
10: 62,854,674 (GRCm39) |
L39S |
unknown |
Het |
Ift122 |
T |
C |
6: 115,867,543 (GRCm39) |
V431A |
probably benign |
Het |
Il36b |
A |
G |
2: 24,049,890 (GRCm39) |
H167R |
probably benign |
Het |
Lce3e |
T |
A |
3: 92,875,142 (GRCm39) |
C33S |
unknown |
Het |
Magi1 |
T |
C |
6: 93,685,189 (GRCm39) |
R730G |
probably damaging |
Het |
Meis3 |
G |
T |
7: 15,911,743 (GRCm39) |
V102F |
probably damaging |
Het |
Mpp7 |
G |
A |
18: 7,440,183 (GRCm39) |
Q263* |
probably null |
Het |
Myo7b |
A |
T |
18: 32,146,320 (GRCm39) |
I155N |
probably damaging |
Het |
Nrip1 |
A |
T |
16: 76,088,072 (GRCm39) |
*1162K |
probably null |
Het |
Or3a1b |
T |
A |
11: 74,012,335 (GRCm39) |
D73E |
probably damaging |
Het |
Or4k50-ps1 |
T |
C |
2: 111,522,444 (GRCm39) |
F194L |
unknown |
Het |
Or8i2 |
A |
C |
2: 86,852,486 (GRCm39) |
V134G |
probably benign |
Het |
Pdik1l |
T |
A |
4: 134,005,736 (GRCm39) |
E326V |
possibly damaging |
Het |
Phrf1 |
T |
C |
7: 140,836,523 (GRCm39) |
M265T |
unknown |
Het |
Piezo2 |
A |
T |
18: 63,215,996 (GRCm39) |
N1222K |
possibly damaging |
Het |
Pkd1 |
G |
A |
17: 24,799,393 (GRCm39) |
V2871M |
probably damaging |
Het |
Pon2 |
T |
G |
6: 5,268,997 (GRCm39) |
N226H |
possibly damaging |
Het |
Rftn2 |
G |
T |
1: 55,234,708 (GRCm39) |
D338E |
probably damaging |
Het |
Rnf123 |
A |
T |
9: 107,947,473 (GRCm39) |
Y171* |
probably null |
Het |
Ror2 |
A |
T |
13: 53,264,901 (GRCm39) |
N730K |
possibly damaging |
Het |
Serpinb6c |
T |
A |
13: 34,079,278 (GRCm39) |
N138I |
probably damaging |
Het |
Smco1 |
A |
T |
16: 32,092,785 (GRCm39) |
H152L |
possibly damaging |
Het |
Tgm3 |
T |
G |
2: 129,883,684 (GRCm39) |
S447R |
probably benign |
Het |
Topbp1 |
A |
G |
9: 103,209,932 (GRCm39) |
K860E |
possibly damaging |
Het |
Uba7 |
C |
A |
9: 107,853,897 (GRCm39) |
|
probably benign |
Het |
Ucp3 |
A |
G |
7: 100,131,089 (GRCm39) |
N181D |
probably damaging |
Het |
Unc13b |
C |
A |
4: 43,215,765 (GRCm39) |
S21R |
probably benign |
Het |
Usp34 |
T |
A |
11: 23,396,968 (GRCm39) |
S2395R |
|
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 |
R4205:Lrrc26
|
UTSW |
2 |
25,180,170 (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 |
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'- AGTGTTGCAATGGCTGGACC -3'
(R):5'- TCTCAGTTTCTGCGGGACAC -3'
Sequencing Primer
(F):5'- AATGGCTGGACCTGAGCTC -3'
(R):5'- TTTCTGCGGGACACAGGAG -3'
|
Posted On |
2019-10-17 |