Incidental Mutation 'R4866:Lgr5'
| ID |
374924 |
| 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 |
042476-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4866 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
115286219-115423685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 115288590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 661
(V661I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020350]
[ENSMUST00000172806]
[ENSMUST00000173740]
|
| AlphaFold |
Q9Z1P4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020350
AA Change: V685I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020350
Gene: ENSMUSG00000020140
AA Change: V685I
| 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 |
probably benign
Transcript: ENSMUST00000172806
AA Change: V661I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133860
Gene: ENSMUSG00000020140
AA Change: V661I
| 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 benign
Transcript: ENSMUST00000173740
AA Change: V613I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133707
Gene: ENSMUSG00000020140
AA Change: V613I
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
99% (79/80) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
C |
T |
17: 24,593,274 (GRCm39) |
R224C |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,241,182 (GRCm39) |
M1K |
probably null |
Het |
| Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
| Adam5 |
A |
C |
8: 25,232,172 (GRCm39) |
|
probably null |
Het |
| Adam5 |
G |
A |
8: 25,271,619 (GRCm39) |
T596I |
probably damaging |
Het |
| Apoa2 |
T |
C |
1: 171,053,369 (GRCm39) |
|
probably null |
Het |
| Atad1 |
A |
T |
19: 32,679,964 (GRCm39) |
H79Q |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 59,928,916 (GRCm39) |
D1046G |
probably damaging |
Het |
| Bcam |
A |
G |
7: 19,499,397 (GRCm39) |
Y209H |
probably benign |
Het |
| Brpf1 |
G |
A |
6: 113,299,431 (GRCm39) |
V1120I |
probably damaging |
Het |
| Catsperb |
G |
A |
12: 101,474,208 (GRCm39) |
C302Y |
probably damaging |
Het |
| Cbl |
A |
G |
9: 44,064,166 (GRCm39) |
V790A |
probably benign |
Het |
| Ccdc60 |
T |
C |
5: 116,310,549 (GRCm39) |
D171G |
probably damaging |
Het |
| Cd300c2 |
A |
T |
11: 114,891,807 (GRCm39) |
C22* |
probably null |
Het |
| Cdan1 |
C |
A |
2: 120,561,928 (GRCm39) |
|
probably benign |
Het |
| Cdk5rap1 |
C |
T |
2: 154,212,876 (GRCm39) |
|
probably null |
Het |
| Cfap410 |
T |
A |
10: 77,817,413 (GRCm39) |
|
probably null |
Het |
| Cfap65 |
T |
C |
1: 74,964,716 (GRCm39) |
D479G |
probably damaging |
Het |
| Cmbl |
A |
G |
15: 31,585,490 (GRCm39) |
K113E |
probably benign |
Het |
| Cog6 |
G |
A |
3: 52,918,019 (GRCm39) |
T173I |
probably benign |
Het |
| Cts6 |
T |
A |
13: 61,350,090 (GRCm39) |
|
probably null |
Het |
| Cyp11a1 |
G |
A |
9: 57,933,380 (GRCm39) |
V413M |
probably damaging |
Het |
| Cyp2c39 |
G |
A |
19: 39,502,020 (GRCm39) |
M136I |
probably benign |
Het |
| Dclre1b |
A |
T |
3: 103,715,412 (GRCm39) |
Y29N |
probably damaging |
Het |
| Depdc1a |
T |
A |
3: 159,221,764 (GRCm39) |
I236K |
probably damaging |
Het |
| Dhx36 |
A |
T |
3: 62,380,198 (GRCm39) |
Y833N |
probably damaging |
Het |
| Dop1b |
G |
T |
16: 93,560,318 (GRCm39) |
|
probably null |
Het |
| Elovl3 |
A |
G |
19: 46,120,603 (GRCm39) |
E32G |
possibly damaging |
Het |
| Entrep1 |
A |
G |
19: 23,952,790 (GRCm39) |
S507P |
possibly damaging |
Het |
| Epcam |
T |
C |
17: 87,951,049 (GRCm39) |
V212A |
possibly damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,170,773 (GRCm39) |
C4S |
possibly damaging |
Het |
| Galnt16 |
T |
C |
12: 80,630,851 (GRCm39) |
Y310H |
probably damaging |
Het |
| Gm12789 |
G |
A |
4: 101,846,182 (GRCm39) |
|
probably benign |
Het |
| Gspt1 |
C |
T |
16: 11,040,529 (GRCm39) |
R593H |
possibly damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,279,403 (GRCm39) |
T1802S |
possibly damaging |
Het |
| Igha |
A |
G |
12: 113,223,129 (GRCm39) |
V166A |
probably benign |
Het |
| Itfg2 |
A |
G |
6: 128,393,279 (GRCm39) |
|
probably benign |
Het |
| Jund |
T |
C |
8: 71,152,254 (GRCm39) |
V183A |
probably damaging |
Het |
| Katnb1 |
T |
C |
8: 95,824,132 (GRCm39) |
S471P |
possibly damaging |
Het |
| Kazn |
A |
G |
4: 141,832,216 (GRCm39) |
F661S |
unknown |
Het |
| Kif19a |
G |
A |
11: 114,658,053 (GRCm39) |
M37I |
probably benign |
Het |
| Lvrn |
G |
T |
18: 47,026,768 (GRCm39) |
A789S |
probably damaging |
Het |
| Mapk10 |
T |
C |
5: 103,111,391 (GRCm39) |
D351G |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,794,535 (GRCm39) |
C2622S |
possibly damaging |
Het |
| Mios |
T |
G |
6: 8,214,857 (GRCm39) |
F18V |
probably damaging |
Het |
| Mllt6 |
A |
G |
11: 97,565,285 (GRCm39) |
D575G |
probably damaging |
Het |
| Mmp10 |
G |
A |
9: 7,508,190 (GRCm39) |
V439M |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,139,453 (GRCm39) |
D590G |
probably benign |
Het |
| Ndufs2 |
C |
T |
1: 171,074,618 (GRCm39) |
G14R |
probably benign |
Het |
| Or10ad1b |
T |
A |
15: 98,125,371 (GRCm39) |
I52F |
probably damaging |
Het |
| Or51a7 |
A |
T |
7: 102,614,927 (GRCm39) |
M207L |
probably benign |
Het |
| Or56a4 |
T |
C |
7: 104,806,514 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Or8g26 |
A |
G |
9: 39,096,367 (GRCm39) |
K298E |
probably damaging |
Het |
| Plau |
G |
T |
14: 20,887,872 (GRCm39) |
V39L |
probably benign |
Het |
| Ppp3cb |
A |
G |
14: 20,573,911 (GRCm39) |
C275R |
probably damaging |
Het |
| Ppp4r4 |
T |
G |
12: 103,566,706 (GRCm39) |
M51R |
possibly damaging |
Het |
| Prr5 |
A |
G |
15: 84,626,105 (GRCm39) |
Y60C |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,402,159 (GRCm39) |
D1023G |
probably damaging |
Het |
| Raly |
T |
A |
2: 154,703,816 (GRCm39) |
V129E |
probably damaging |
Het |
| Rsph10b |
A |
G |
5: 143,885,347 (GRCm39) |
E249G |
probably benign |
Het |
| Sart1 |
A |
C |
19: 5,432,248 (GRCm39) |
L577W |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 97,964,729 (GRCm39) |
E189G |
possibly damaging |
Het |
| Slc22a2 |
G |
T |
17: 12,803,316 (GRCm39) |
C50F |
probably damaging |
Het |
| Spem1 |
A |
T |
11: 69,711,755 (GRCm39) |
V303E |
probably damaging |
Het |
| Tgfb3 |
A |
G |
12: 86,124,588 (GRCm39) |
V40A |
possibly damaging |
Het |
| Ttl |
T |
C |
2: 128,923,147 (GRCm39) |
S163P |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,844,920 (GRCm39) |
N429K |
probably benign |
Het |
| Uggt1 |
G |
A |
1: 36,241,936 (GRCm39) |
R333* |
probably null |
Het |
| Zfhx2 |
A |
G |
14: 55,302,993 (GRCm39) |
S1664P |
possibly damaging |
Het |
| Zfp51 |
T |
A |
17: 21,682,012 (GRCm39) |
D70E |
possibly damaging |
Het |
| Zfp592 |
T |
A |
7: 80,691,607 (GRCm39) |
V1262E |
probably damaging |
Het |
| Zfp595 |
C |
A |
13: 67,465,760 (GRCm39) |
G168C |
probably damaging |
Het |
| Zswim9 |
A |
T |
7: 12,995,095 (GRCm39) |
S354T |
probably 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 |
|
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 |
|
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'- CAGTAGAGCTTTGTGTAGGCAATG -3'
(R):5'- TGGATGCATTCACTTTTGGCC -3'
Sequencing Primer
(F):5'- TAGGCAATGGTCATTATGAGGAAAC -3'
(R):5'- TTTGCTCAGCACGGTGC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation