Incidental Mutation 'R1119:Lgr5'
ID |
97756 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lgr5
|
Ensembl Gene |
ENSMUSG00000020140 |
Gene Name |
leucine rich repeat containing G protein coupled receptor 5 |
Synonyms |
Gpr49 |
MMRRC Submission |
039192-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1119 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
115286219-115423685 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 115296716 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020350]
[ENSMUST00000172806]
[ENSMUST00000172806]
[ENSMUST00000173740]
[ENSMUST00000173740]
|
AlphaFold |
Q9Z1P4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020350
|
SMART Domains |
Protein: ENSMUSP00000020350 Gene: ENSMUSG00000020140
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: ENSMUST00000144732
|
Predicted Effect |
probably null
Transcript: ENSMUST00000172806
|
SMART Domains |
Protein: ENSMUSP00000133860 Gene: ENSMUSG00000020140
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 |
probably null
Transcript: ENSMUST00000172806
|
SMART Domains |
Protein: ENSMUSP00000133860 Gene: ENSMUSG00000020140
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 |
noncoding transcript
Transcript: ENSMUST00000173619
|
Predicted Effect |
probably null
Transcript: ENSMUST00000173740
|
SMART Domains |
Protein: ENSMUSP00000133707 Gene: ENSMUSG00000020140
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000173740
|
SMART Domains |
Protein: ENSMUSP00000133707 Gene: ENSMUSG00000020140
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 |
|
Meta Mutation Damage Score |
0.9493 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.4%
|
Validation Efficiency |
100% (51/51) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl3 |
A |
C |
7: 82,189,525 (GRCm39) |
E583A |
probably damaging |
Het |
Aoah |
T |
A |
13: 21,099,108 (GRCm39) |
|
probably benign |
Het |
Atf7ip2 |
A |
G |
16: 10,058,476 (GRCm39) |
K305R |
possibly damaging |
Het |
Bltp1 |
T |
G |
3: 37,041,194 (GRCm39) |
V2524G |
probably damaging |
Het |
Cd200r2 |
A |
G |
16: 44,729,969 (GRCm39) |
N171S |
probably damaging |
Het |
Cfap57 |
G |
A |
4: 118,463,873 (GRCm39) |
Q327* |
probably null |
Het |
Ckap2l |
A |
T |
2: 129,114,492 (GRCm39) |
|
probably benign |
Het |
Cul2 |
A |
G |
18: 3,419,335 (GRCm39) |
|
probably benign |
Het |
Ddx60 |
G |
A |
8: 62,395,578 (GRCm39) |
V172M |
probably damaging |
Het |
Drp2 |
T |
C |
X: 133,342,071 (GRCm39) |
L545P |
probably damaging |
Het |
Ezh1 |
A |
G |
11: 101,101,361 (GRCm39) |
|
probably benign |
Het |
Gipc2 |
A |
G |
3: 151,799,833 (GRCm39) |
F299S |
probably damaging |
Het |
Gsk3b |
T |
C |
16: 38,028,346 (GRCm39) |
|
probably benign |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Hikeshi |
A |
G |
7: 89,584,938 (GRCm39) |
S89P |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,494,679 (GRCm39) |
A4137T |
possibly damaging |
Het |
Itprid1 |
T |
C |
6: 55,866,155 (GRCm39) |
F183L |
probably damaging |
Het |
Larp1b |
C |
A |
3: 40,987,963 (GRCm39) |
R62S |
possibly damaging |
Het |
Lpin1 |
C |
A |
12: 16,613,722 (GRCm39) |
D449Y |
probably damaging |
Het |
Macrod2 |
A |
T |
2: 140,242,826 (GRCm39) |
I31L |
probably benign |
Het |
Meig1 |
T |
C |
2: 3,410,311 (GRCm39) |
D63G |
probably damaging |
Het |
Ndufa9 |
A |
T |
6: 126,799,031 (GRCm39) |
L362Q |
probably damaging |
Het |
Nlrp9c |
A |
T |
7: 26,083,862 (GRCm39) |
D572E |
probably benign |
Het |
Nxpe5 |
G |
A |
5: 138,237,658 (GRCm39) |
D61N |
probably benign |
Het |
Ogdh |
T |
A |
11: 6,290,544 (GRCm39) |
H376Q |
probably damaging |
Het |
P4ha3 |
T |
C |
7: 99,962,535 (GRCm39) |
I431T |
probably damaging |
Het |
Pcdhb14 |
G |
A |
18: 37,581,640 (GRCm39) |
V249M |
probably damaging |
Het |
Pcnp |
A |
G |
16: 55,844,754 (GRCm39) |
S49P |
probably damaging |
Het |
Pik3r6 |
C |
T |
11: 68,436,698 (GRCm39) |
T654I |
probably benign |
Het |
Rptn |
A |
G |
3: 93,303,552 (GRCm39) |
Y295C |
possibly damaging |
Het |
Sec16b |
A |
G |
1: 157,392,404 (GRCm39) |
D924G |
possibly damaging |
Het |
Setd1b |
C |
A |
5: 123,285,779 (GRCm39) |
T275K |
unknown |
Het |
Sgcb |
T |
A |
5: 73,801,757 (GRCm39) |
K36I |
probably damaging |
Het |
Smg7 |
A |
T |
1: 152,742,326 (GRCm39) |
|
probably benign |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Stab2 |
T |
C |
10: 86,695,619 (GRCm39) |
D599G |
possibly damaging |
Het |
Stk36 |
A |
G |
1: 74,671,925 (GRCm39) |
E875G |
probably benign |
Het |
Tagln3 |
C |
A |
16: 45,544,635 (GRCm39) |
R12L |
probably damaging |
Het |
Tax1bp1 |
C |
A |
6: 52,718,933 (GRCm39) |
|
probably benign |
Het |
Thnsl1 |
A |
G |
2: 21,217,857 (GRCm39) |
N16S |
probably damaging |
Het |
Ticrr |
C |
T |
7: 79,343,701 (GRCm39) |
P1189S |
probably benign |
Het |
Tnxb |
G |
A |
17: 34,904,017 (GRCm39) |
V1053M |
probably damaging |
Het |
Tpp2 |
T |
C |
1: 44,031,556 (GRCm39) |
|
probably null |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Vmn2r60 |
A |
T |
7: 41,844,365 (GRCm39) |
Q576L |
possibly damaging |
Het |
Zfp62 |
G |
T |
11: 49,107,517 (GRCm39) |
R536L |
probably damaging |
Het |
Zfp958 |
A |
T |
8: 4,676,169 (GRCm39) |
N46Y |
possibly damaging |
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 |
IGL03350:Lgr5
|
APN |
10 |
115,307,893 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGAGCATAATCGAACATTTGCCAC -3'
(R):5'- TTTCCTCCCACTGGGTGATGACAG -3'
Sequencing Primer
(F):5'- ttttgagtcttactatgtttccctg -3'
(R):5'- GAGATAGTCACACTTCCTTTGAGACC -3'
|
Posted On |
2014-01-05 |