Incidental Mutation 'R8704:Lgr5'
ID |
669197 |
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 |
068558-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8704 (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 115288610 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 678
(L678P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020350
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020350]
[ENSMUST00000172806]
[ENSMUST00000173740]
|
AlphaFold |
Q9Z1P4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020350
AA Change: L678P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000020350 Gene: ENSMUSG00000020140 AA Change: L678P
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: L654P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000133860 Gene: ENSMUSG00000020140 AA Change: L654P
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 benign
Transcript: ENSMUST00000173740
AA Change: L606P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000133707 Gene: ENSMUSG00000020140 AA Change: L606P
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 |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.5%
|
Validation Efficiency |
98% (39/40) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
T |
C |
11: 69,773,489 (GRCm39) |
Q628R |
possibly damaging |
Het |
Agbl1 |
G |
T |
7: 76,239,302 (GRCm39) |
|
probably benign |
Het |
Brf2 |
A |
G |
8: 27,618,499 (GRCm39) |
V35A |
possibly damaging |
Het |
Chtf8 |
A |
C |
8: 107,612,672 (GRCm39) |
M89R |
probably benign |
Het |
Copa |
A |
G |
1: 171,931,693 (GRCm39) |
I315V |
probably benign |
Het |
Csmd2 |
G |
A |
4: 128,091,147 (GRCm39) |
E229K |
|
Het |
Etf1 |
T |
C |
18: 35,039,139 (GRCm39) |
E376G |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,172,137 (GRCm39) |
I2859F |
probably damaging |
Het |
Foxp1 |
C |
G |
6: 98,993,507 (GRCm39) |
Q132H |
unknown |
Het |
Gal3st3 |
T |
C |
19: 5,352,663 (GRCm39) |
V30A |
probably benign |
Het |
Gars1 |
C |
T |
6: 55,040,215 (GRCm39) |
R381C |
probably damaging |
Het |
Gjd3 |
C |
T |
11: 98,873,445 (GRCm39) |
R133H |
probably damaging |
Het |
Haspin |
T |
C |
11: 73,028,828 (GRCm39) |
N87S |
probably benign |
Het |
Hcrt |
A |
T |
11: 100,652,752 (GRCm39) |
|
probably benign |
Het |
Heatr6 |
T |
A |
11: 83,668,104 (GRCm39) |
M866K |
probably benign |
Het |
Igf1r |
T |
C |
7: 67,819,802 (GRCm39) |
|
probably benign |
Het |
Lypd5 |
A |
G |
7: 24,050,982 (GRCm39) |
H31R |
possibly damaging |
Het |
Mib2 |
A |
G |
4: 155,743,620 (GRCm39) |
M275T |
possibly damaging |
Het |
Mmp19 |
G |
A |
10: 128,634,703 (GRCm39) |
V440I |
probably benign |
Het |
Nefm |
T |
C |
14: 68,358,510 (GRCm39) |
E508G |
unknown |
Het |
Nlrp4a |
A |
T |
7: 26,156,563 (GRCm39) |
I763L |
probably benign |
Het |
Or5p61 |
A |
T |
7: 107,758,711 (GRCm39) |
V123D |
possibly damaging |
Het |
Or9g4 |
T |
A |
2: 85,504,562 (GRCm39) |
H311L |
|
Het |
Pcdhb1 |
T |
A |
18: 37,399,402 (GRCm39) |
V451D |
possibly damaging |
Het |
Pfkfb2 |
T |
C |
1: 130,625,780 (GRCm39) |
N467D |
probably benign |
Het |
Ptprc |
G |
A |
1: 138,043,362 (GRCm39) |
T63I |
probably benign |
Het |
Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
Rhobtb2 |
G |
A |
14: 70,031,373 (GRCm39) |
P584L |
probably damaging |
Het |
Rhoc |
G |
C |
3: 104,699,342 (GRCm39) |
A44P |
probably damaging |
Het |
Sardh |
T |
C |
2: 27,120,477 (GRCm39) |
E435G |
possibly damaging |
Het |
Stfa1 |
A |
T |
16: 36,105,536 (GRCm39) |
D89V |
probably damaging |
Het |
Tec |
T |
C |
5: 72,926,105 (GRCm39) |
K316E |
probably damaging |
Het |
Tsen15 |
A |
T |
1: 152,247,541 (GRCm39) |
Y150* |
probably null |
Het |
Ugt1a5 |
T |
C |
1: 88,094,087 (GRCm39) |
I105T |
probably benign |
Het |
Usp25 |
A |
G |
16: 76,856,178 (GRCm39) |
D257G |
probably benign |
Het |
Vmn1r195 |
A |
G |
13: 22,463,058 (GRCm39) |
Y176C |
possibly damaging |
Het |
Wdr31 |
G |
A |
4: 62,380,442 (GRCm39) |
A87V |
probably benign |
Het |
Wwp2 |
A |
T |
8: 108,212,228 (GRCm39) |
T177S |
probably benign |
Het |
Zfp28 |
T |
C |
7: 6,397,637 (GRCm39) |
C691R |
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 |
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 |
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'- AGTTGAGCAACACGAGAGCC -3'
(R):5'- GCGGTAGTGGACATTCTCATG -3'
Sequencing Primer
(F):5'- CGAGAGCCACCATGTAGC -3'
(R):5'- ACATTCTCATGGGGGTCTCCAG -3'
|
Posted On |
2021-04-30 |