Incidental Mutation 'R7770:Lgr5'
| ID |
598541 |
| 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 |
045826-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7770 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
115286219-115423685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115307899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 253
(I253T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020350]
[ENSMUST00000172806]
[ENSMUST00000173740]
|
| AlphaFold |
Q9Z1P4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020350
AA Change: I253T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020350
Gene: ENSMUSG00000020140
AA Change: I253T
| 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 damaging
Transcript: ENSMUST00000172806
AA Change: I253T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133860
Gene: ENSMUSG00000020140
AA Change: I253T
| 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: I181T
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133707
Gene: ENSMUSG00000020140
AA Change: I181T
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (55/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,165,894 (GRCm39) |
V160E |
probably damaging |
Het |
| Abhd8 |
C |
T |
8: 71,910,894 (GRCm39) |
G305S |
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,231,579 (GRCm39) |
V870A |
probably benign |
Het |
| Agl |
A |
G |
3: 116,551,886 (GRCm39) |
|
probably null |
Het |
| Cav3 |
A |
T |
6: 112,449,147 (GRCm39) |
D55V |
probably damaging |
Het |
| Ccser2 |
T |
A |
14: 36,648,831 (GRCm39) |
D556V |
probably damaging |
Het |
| Cdc20b |
T |
C |
13: 113,215,193 (GRCm39) |
Y254H |
probably benign |
Het |
| Commd8 |
A |
G |
5: 72,317,223 (GRCm39) |
L182S |
probably damaging |
Het |
| Cyp1b1 |
G |
A |
17: 80,020,728 (GRCm39) |
A338V |
probably damaging |
Het |
| Def8 |
C |
A |
8: 124,186,798 (GRCm39) |
D459E |
unknown |
Het |
| Dennd5b |
T |
C |
6: 148,943,214 (GRCm39) |
Y554C |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,665,460 (GRCm39) |
|
probably null |
Het |
| Dnajc5b |
T |
A |
3: 19,633,181 (GRCm39) |
C135S |
probably benign |
Het |
| Dnpep |
G |
A |
1: 75,293,890 (GRCm39) |
|
probably benign |
Het |
| Drc1 |
C |
T |
5: 30,507,856 (GRCm39) |
Q293* |
probably null |
Het |
| Glmp |
A |
G |
3: 88,233,077 (GRCm39) |
S72G |
probably benign |
Het |
| Gm5431 |
A |
T |
11: 48,779,285 (GRCm39) |
S546T |
probably benign |
Het |
| Gnptab |
T |
A |
10: 88,247,782 (GRCm39) |
C70S |
probably benign |
Het |
| Gpr83 |
G |
A |
9: 14,778,170 (GRCm39) |
R180Q |
probably damaging |
Het |
| Gucy1a1 |
A |
T |
3: 82,016,112 (GRCm39) |
L292Q |
possibly damaging |
Het |
| Gzmd |
T |
C |
14: 56,368,720 (GRCm39) |
D58G |
probably damaging |
Het |
| Hoxa10 |
A |
G |
6: 52,211,245 (GRCm39) |
S224P |
possibly damaging |
Het |
| Hoxa13 |
G |
A |
6: 52,237,247 (GRCm39) |
|
probably benign |
Het |
| Igsf6 |
A |
G |
7: 120,667,548 (GRCm39) |
V156A |
probably benign |
Het |
| Il6st |
A |
T |
13: 112,639,338 (GRCm39) |
I649F |
probably damaging |
Het |
| Kcnh3 |
G |
A |
15: 99,131,147 (GRCm39) |
V507M |
probably damaging |
Het |
| Met |
T |
A |
6: 17,491,406 (GRCm39) |
V56D |
possibly damaging |
Het |
| Mettl22 |
A |
T |
16: 8,303,764 (GRCm39) |
I277F |
possibly damaging |
Het |
| Nadsyn1 |
G |
A |
7: 143,359,740 (GRCm39) |
R411W |
probably damaging |
Het |
| Nrros |
T |
G |
16: 31,962,346 (GRCm39) |
E557A |
probably benign |
Het |
| Or10ak14 |
A |
T |
4: 118,611,254 (GRCm39) |
H162Q |
probably benign |
Het |
| Or5w1 |
T |
C |
2: 87,486,813 (GRCm39) |
I151V |
not run |
Het |
| Or8j3b |
C |
T |
2: 86,205,604 (GRCm39) |
V51M |
possibly damaging |
Het |
| Pih1d2 |
G |
A |
9: 50,533,101 (GRCm39) |
R243Q |
not run |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,754,977 (GRCm39) |
V90A |
probably benign |
Het |
| Prmt9 |
T |
A |
8: 78,285,814 (GRCm39) |
|
probably null |
Het |
| Rapgef4 |
T |
A |
2: 72,028,739 (GRCm39) |
N385K |
possibly damaging |
Het |
| Rbm28 |
G |
A |
6: 29,164,627 (GRCm39) |
|
probably benign |
Het |
| Rhobtb3 |
A |
T |
13: 76,065,934 (GRCm39) |
S150T |
probably damaging |
Het |
| Serpinb6b |
T |
C |
13: 33,161,512 (GRCm39) |
V195A |
probably benign |
Het |
| Sesn1 |
T |
A |
10: 41,770,054 (GRCm39) |
I99N |
probably damaging |
Het |
| Setd1b |
G |
A |
5: 123,296,815 (GRCm39) |
|
probably benign |
Het |
| Slc22a19 |
T |
A |
19: 7,681,360 (GRCm39) |
|
probably null |
Het |
| Slc9a4 |
T |
C |
1: 40,640,123 (GRCm39) |
I305T |
probably damaging |
Het |
| Smg6 |
T |
A |
11: 74,884,687 (GRCm39) |
N3K |
unknown |
Het |
| Spta1 |
C |
A |
1: 174,023,547 (GRCm39) |
Y651* |
probably null |
Het |
| Tatdn3 |
G |
A |
1: 190,791,053 (GRCm39) |
P74S |
probably benign |
Het |
| Tet2 |
C |
T |
3: 133,186,056 (GRCm39) |
R1127Q |
possibly damaging |
Het |
| Tgfbi |
T |
A |
13: 56,780,657 (GRCm39) |
|
probably null |
Het |
| Tmprss9 |
A |
G |
10: 80,733,903 (GRCm39) |
|
probably null |
Het |
| Tox4 |
T |
C |
14: 52,517,299 (GRCm39) |
Y10H |
probably damaging |
Het |
| Trappc10 |
A |
T |
10: 78,046,679 (GRCm39) |
S407T |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,708,336 (GRCm39) |
C24R |
probably damaging |
Het |
| Wdr24 |
C |
A |
17: 26,046,070 (GRCm39) |
A465D |
probably benign |
Het |
| Wfdc8 |
A |
G |
2: 164,439,594 (GRCm39) |
S263P |
unknown |
Het |
| Zc3h15 |
T |
A |
2: 83,488,476 (GRCm39) |
I138N |
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 |
|
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 |
|
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'- TTTACACACAAATATGGGAGGACAG -3'
(R):5'- ATAAGCCCTCTCCTGGAAGAGAAAG -3'
Sequencing Primer
(F):5'- CACAAATATGGGAGGACAGATGTAC -3'
(R):5'- CCCTCTCCTGGAAGAGAAAGAAGAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation