Incidental Mutation 'IGL03350:Lgr5'
ID |
419646 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lgr5
|
Ensembl Gene |
ENSMUSG00000020140 |
Gene Name |
leucine rich repeat containing G protein coupled receptor 5 |
Synonyms |
Gpr49 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03350
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
115286219-115423685 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 115307893 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 255
(T255K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133860
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020350]
[ENSMUST00000172806]
[ENSMUST00000173740]
|
AlphaFold |
Q9Z1P4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020350
AA Change: T255K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020350 Gene: ENSMUSG00000020140 AA Change: T255K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
LRRNT
|
33 |
70 |
1.43e-5 |
SMART |
LRR
|
64 |
88 |
1.41e2 |
SMART |
LRR_TYP
|
89 |
112 |
3.44e-4 |
SMART |
LRR_TYP
|
113 |
136 |
9.88e-5 |
SMART |
LRR_TYP
|
137 |
160 |
9.73e-4 |
SMART |
LRR_TYP
|
161 |
184 |
5.21e-4 |
SMART |
LRR
|
185 |
208 |
6.22e0 |
SMART |
LRR_TYP
|
209 |
232 |
3.89e-3 |
SMART |
LRR
|
233 |
255 |
9.75e0 |
SMART |
LRR_TYP
|
256 |
279 |
1.38e-3 |
SMART |
Blast:LRR
|
281 |
303 |
2e-6 |
BLAST |
Blast:LRR
|
304 |
328 |
1e-5 |
BLAST |
LRR_TYP
|
351 |
374 |
1.56e-2 |
SMART |
LRR
|
375 |
396 |
1.09e2 |
SMART |
LRR_TYP
|
397 |
420 |
7.26e-3 |
SMART |
LRR
|
421 |
444 |
2.86e-1 |
SMART |
low complexity region
|
518 |
533 |
N/A |
INTRINSIC |
Pfam:7tm_1
|
574 |
820 |
9.5e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000105272
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149008
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172806
AA Change: T255K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000133860 Gene: ENSMUSG00000020140 AA Change: T255K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
LRRNT
|
33 |
70 |
1.43e-5 |
SMART |
LRR
|
64 |
88 |
1.41e2 |
SMART |
LRR_TYP
|
89 |
112 |
3.44e-4 |
SMART |
LRR_TYP
|
113 |
136 |
9.88e-5 |
SMART |
LRR_TYP
|
137 |
160 |
9.73e-4 |
SMART |
LRR_TYP
|
161 |
184 |
5.21e-4 |
SMART |
LRR
|
185 |
208 |
6.22e0 |
SMART |
LRR_TYP
|
209 |
232 |
3.89e-3 |
SMART |
LRR
|
233 |
255 |
9.75e0 |
SMART |
LRR
|
256 |
279 |
6.57e-1 |
SMART |
Blast:LRR
|
280 |
304 |
1e-5 |
BLAST |
LRR_TYP
|
327 |
350 |
1.56e-2 |
SMART |
LRR
|
351 |
372 |
1.09e2 |
SMART |
LRR_TYP
|
373 |
396 |
7.26e-3 |
SMART |
LRR
|
397 |
420 |
2.86e-1 |
SMART |
low complexity region
|
494 |
509 |
N/A |
INTRINSIC |
Pfam:7tm_1
|
550 |
796 |
8.2e-16 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173740
AA Change: T183K
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000133707 Gene: ENSMUSG00000020140 AA Change: T183K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
LRRNT
|
33 |
70 |
1.43e-5 |
SMART |
LRR
|
64 |
88 |
1.41e2 |
SMART |
LRR_TYP
|
89 |
112 |
3.44e-4 |
SMART |
LRR_TYP
|
113 |
136 |
9.88e-5 |
SMART |
LRR_TYP
|
137 |
160 |
9.08e-4 |
SMART |
LRR
|
161 |
183 |
9.75e0 |
SMART |
LRR_TYP
|
184 |
207 |
1.38e-3 |
SMART |
Blast:LRR
|
209 |
231 |
1e-6 |
BLAST |
Blast:LRR
|
232 |
256 |
1e-5 |
BLAST |
LRR_TYP
|
279 |
302 |
1.56e-2 |
SMART |
LRR
|
303 |
324 |
1.09e2 |
SMART |
LRR_TYP
|
325 |
348 |
7.26e-3 |
SMART |
LRR
|
349 |
372 |
2.86e-1 |
SMART |
low complexity region
|
446 |
461 |
N/A |
INTRINSIC |
Pfam:7tm_1
|
502 |
748 |
7.4e-16 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. [provided by RefSeq, Sep 2015] PHENOTYPE: Mice homozygous for a knock-out allele display 100% neonatal lethality associated with ankyloglossia, gastrointestinal distension, cyanosis and respiratory failure. [provided by MGI curators]
|
Allele List at MGI |
All alleles(7) : Targeted(7)
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
A |
T |
8: 44,022,589 (GRCm39) |
Y300* |
probably null |
Het |
Adgre1 |
T |
A |
17: 57,708,908 (GRCm39) |
V33E |
probably benign |
Het |
AI987944 |
A |
G |
7: 41,042,661 (GRCm39) |
|
probably benign |
Het |
Atp4a |
T |
C |
7: 30,420,292 (GRCm39) |
L813P |
probably damaging |
Het |
Blmh |
A |
G |
11: 76,862,774 (GRCm39) |
N396D |
probably damaging |
Het |
Brat1 |
T |
C |
5: 140,691,750 (GRCm39) |
L9P |
probably damaging |
Het |
Ccdc171 |
T |
C |
4: 83,599,615 (GRCm39) |
I810T |
possibly damaging |
Het |
Clec2m |
C |
A |
6: 129,307,986 (GRCm39) |
V28L |
probably benign |
Het |
Cyp2a22 |
T |
C |
7: 26,634,279 (GRCm39) |
T292A |
possibly damaging |
Het |
Ecm2 |
C |
T |
13: 49,674,420 (GRCm39) |
T280I |
probably benign |
Het |
Fa2h |
C |
T |
8: 112,075,928 (GRCm39) |
V232I |
probably benign |
Het |
Fbxw24 |
T |
C |
9: 109,436,081 (GRCm39) |
D317G |
probably damaging |
Het |
Flt4 |
C |
A |
11: 49,525,620 (GRCm39) |
S722* |
probably null |
Het |
Fryl |
T |
C |
5: 73,290,649 (GRCm39) |
Q85R |
probably damaging |
Het |
Gm3239 |
A |
G |
14: 15,882,083 (GRCm39) |
R188G |
possibly damaging |
Het |
Hspa13 |
A |
T |
16: 75,554,717 (GRCm39) |
S456R |
probably damaging |
Het |
Htr1b |
T |
C |
9: 81,514,175 (GRCm39) |
Y144C |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,038,856 (GRCm39) |
H198R |
possibly damaging |
Het |
Krt78 |
A |
T |
15: 101,854,952 (GRCm39) |
M953K |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,268,797 (GRCm39) |
D4162V |
probably damaging |
Het |
Map3k2 |
A |
G |
18: 32,345,201 (GRCm39) |
D342G |
probably damaging |
Het |
Miip |
A |
G |
4: 147,946,979 (GRCm39) |
V258A |
probably benign |
Het |
Muc6 |
T |
C |
7: 141,238,324 (GRCm39) |
H52R |
probably damaging |
Het |
Nfs1 |
T |
C |
2: 155,969,660 (GRCm39) |
E329G |
probably benign |
Het |
Npsr1 |
T |
C |
9: 24,009,605 (GRCm39) |
V37A |
probably benign |
Het |
Or1ak2 |
T |
C |
2: 36,827,595 (GRCm39) |
Y155H |
probably damaging |
Het |
Or1e17 |
A |
T |
11: 73,831,664 (GRCm39) |
L197F |
probably damaging |
Het |
Or5aq1b |
A |
C |
2: 86,901,904 (GRCm39) |
D191E |
probably damaging |
Het |
Pex16 |
T |
A |
2: 92,207,842 (GRCm39) |
M98K |
probably damaging |
Het |
Pla2r1 |
C |
T |
2: 60,285,517 (GRCm39) |
C699Y |
probably damaging |
Het |
Plcd4 |
A |
T |
1: 74,588,460 (GRCm39) |
D103V |
probably damaging |
Het |
Pnpla1 |
A |
G |
17: 29,095,966 (GRCm39) |
D129G |
probably damaging |
Het |
Rad23a |
T |
C |
8: 85,564,108 (GRCm39) |
E265G |
possibly damaging |
Het |
Rbm11 |
C |
T |
16: 75,397,696 (GRCm39) |
P209S |
probably benign |
Het |
Ribc2 |
T |
A |
15: 85,019,703 (GRCm39) |
W162R |
probably damaging |
Het |
Rnf4 |
A |
G |
5: 34,504,204 (GRCm39) |
E32G |
possibly damaging |
Het |
Rpe65 |
A |
T |
3: 159,320,154 (GRCm39) |
S269C |
possibly damaging |
Het |
Slc7a14 |
T |
A |
3: 31,291,558 (GRCm39) |
Y240F |
probably benign |
Het |
Sorbs2 |
C |
T |
8: 46,258,844 (GRCm39) |
P1047L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,580,166 (GRCm39) |
I23576V |
probably damaging |
Het |
Usp24 |
T |
G |
4: 106,228,276 (GRCm39) |
Y780* |
probably null |
Het |
Wee2 |
T |
C |
6: 40,426,665 (GRCm39) |
S145P |
probably damaging |
Het |
Zcchc7 |
A |
G |
4: 44,931,188 (GRCm39) |
T126A |
probably benign |
Het |
Zpld1 |
A |
G |
16: 55,061,692 (GRCm39) |
|
probably benign |
Het |
Zup1 |
G |
A |
10: 33,804,107 (GRCm39) |
R456C |
probably benign |
Het |
|
Other mutations in Lgr5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00341:Lgr5
|
APN |
10 |
115,290,369 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL01291:Lgr5
|
APN |
10 |
115,314,439 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01432:Lgr5
|
APN |
10 |
115,288,997 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01778:Lgr5
|
APN |
10 |
115,298,607 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01936:Lgr5
|
APN |
10 |
115,288,319 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02079:Lgr5
|
APN |
10 |
115,288,099 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02134:Lgr5
|
APN |
10 |
115,288,763 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03083:Lgr5
|
APN |
10 |
115,288,937 (GRCm39) |
missense |
probably benign |
0.26 |
anger
|
UTSW |
10 |
115,302,251 (GRCm39) |
missense |
probably benign |
0.03 |
ANU05:Lgr5
|
UTSW |
10 |
115,314,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R0378:Lgr5
|
UTSW |
10 |
115,290,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R0788:Lgr5
|
UTSW |
10 |
115,288,902 (GRCm39) |
missense |
probably damaging |
0.99 |
R1119:Lgr5
|
UTSW |
10 |
115,296,716 (GRCm39) |
critical splice donor site |
probably null |
|
R1321:Lgr5
|
UTSW |
10 |
115,314,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R1880:Lgr5
|
UTSW |
10 |
115,288,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R1985:Lgr5
|
UTSW |
10 |
115,331,150 (GRCm39) |
splice site |
probably benign |
|
R2434:Lgr5
|
UTSW |
10 |
115,423,311 (GRCm39) |
missense |
probably benign |
|
R3055:Lgr5
|
UTSW |
10 |
115,302,028 (GRCm39) |
splice site |
probably benign |
|
R3910:Lgr5
|
UTSW |
10 |
115,423,368 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4686:Lgr5
|
UTSW |
10 |
115,294,648 (GRCm39) |
intron |
probably benign |
|
R4862:Lgr5
|
UTSW |
10 |
115,298,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R4866:Lgr5
|
UTSW |
10 |
115,288,590 (GRCm39) |
missense |
probably benign |
0.00 |
R5089:Lgr5
|
UTSW |
10 |
115,314,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R5118:Lgr5
|
UTSW |
10 |
115,288,244 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5375:Lgr5
|
UTSW |
10 |
115,314,469 (GRCm39) |
missense |
probably benign |
0.00 |
R5537:Lgr5
|
UTSW |
10 |
115,292,594 (GRCm39) |
missense |
probably benign |
0.00 |
R5583:Lgr5
|
UTSW |
10 |
115,314,409 (GRCm39) |
missense |
probably benign |
0.32 |
R6312:Lgr5
|
UTSW |
10 |
115,288,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R6362:Lgr5
|
UTSW |
10 |
115,314,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R6605:Lgr5
|
UTSW |
10 |
115,293,772 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6689:Lgr5
|
UTSW |
10 |
115,302,513 (GRCm39) |
missense |
probably damaging |
0.99 |
R6705:Lgr5
|
UTSW |
10 |
115,423,193 (GRCm39) |
missense |
probably damaging |
0.96 |
R6925:Lgr5
|
UTSW |
10 |
115,302,251 (GRCm39) |
missense |
probably benign |
0.03 |
R7063:Lgr5
|
UTSW |
10 |
115,292,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R7261:Lgr5
|
UTSW |
10 |
115,423,370 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7274:Lgr5
|
UTSW |
10 |
115,288,410 (GRCm39) |
missense |
probably damaging |
0.99 |
R7458:Lgr5
|
UTSW |
10 |
115,293,660 (GRCm39) |
critical splice donor site |
probably null |
|
R7569:Lgr5
|
UTSW |
10 |
115,298,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R7770:Lgr5
|
UTSW |
10 |
115,307,899 (GRCm39) |
missense |
probably damaging |
0.98 |
R7936:Lgr5
|
UTSW |
10 |
115,288,952 (GRCm39) |
missense |
probably damaging |
0.99 |
R7964:Lgr5
|
UTSW |
10 |
115,288,079 (GRCm39) |
missense |
probably benign |
0.00 |
R8085:Lgr5
|
UTSW |
10 |
115,311,102 (GRCm39) |
missense |
probably benign |
|
R8537:Lgr5
|
UTSW |
10 |
115,288,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R8703:Lgr5
|
UTSW |
10 |
115,288,610 (GRCm39) |
missense |
probably benign |
0.01 |
R8704:Lgr5
|
UTSW |
10 |
115,288,610 (GRCm39) |
missense |
probably benign |
0.01 |
R8706:Lgr5
|
UTSW |
10 |
115,288,610 (GRCm39) |
missense |
probably benign |
0.01 |
R8707:Lgr5
|
UTSW |
10 |
115,288,610 (GRCm39) |
missense |
probably benign |
0.01 |
R9019:Lgr5
|
UTSW |
10 |
115,314,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R9043:Lgr5
|
UTSW |
10 |
115,314,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R9215:Lgr5
|
UTSW |
10 |
115,311,085 (GRCm39) |
missense |
probably damaging |
0.99 |
R9217:Lgr5
|
UTSW |
10 |
115,423,349 (GRCm39) |
missense |
probably benign |
0.33 |
R9427:Lgr5
|
UTSW |
10 |
115,288,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R9631:Lgr5
|
UTSW |
10 |
115,302,513 (GRCm39) |
missense |
probably damaging |
0.99 |
R9738:Lgr5
|
UTSW |
10 |
115,288,527 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Lgr5
|
UTSW |
10 |
115,296,781 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Lgr5
|
UTSW |
10 |
115,292,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2016-08-02 |