Incidental Mutation 'R7569:Lgr5'
ID |
585647 |
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 |
045657-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7569 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
115286219-115423685 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115298661 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 361
(Y361C)
|
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: Y361C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020350 Gene: ENSMUSG00000020140 AA Change: Y361C
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: Y337C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133860 Gene: ENSMUSG00000020140 AA Change: Y337C
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 damaging
Transcript: ENSMUST00000173740
AA Change: Y289C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133707 Gene: ENSMUSG00000020140 AA Change: Y289C
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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (58/59) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330182O14Rik |
A |
T |
15: 40,008,344 (GRCm39) |
T73S |
unknown |
Het |
Acvrl1 |
A |
G |
15: 101,033,636 (GRCm39) |
Q106R |
probably benign |
Het |
Adgb |
A |
T |
10: 10,306,996 (GRCm39) |
D329E |
probably benign |
Het |
Ankrd12 |
A |
T |
17: 66,289,900 (GRCm39) |
D1844E |
probably damaging |
Het |
Ankub1 |
G |
A |
3: 57,573,039 (GRCm39) |
R228* |
probably null |
Het |
Apol6 |
A |
C |
15: 76,934,898 (GRCm39) |
|
probably benign |
Het |
Ascc2 |
G |
A |
11: 4,629,506 (GRCm39) |
V618M |
probably damaging |
Het |
Asic3 |
A |
G |
5: 24,619,046 (GRCm39) |
T113A |
probably benign |
Het |
BC034090 |
T |
A |
1: 155,093,151 (GRCm39) |
H769L |
probably benign |
Het |
Bcl11a |
G |
T |
11: 24,035,458 (GRCm39) |
E65* |
probably null |
Het |
Birc6 |
G |
T |
17: 74,905,077 (GRCm39) |
R1290L |
possibly damaging |
Het |
C6 |
A |
G |
15: 4,819,063 (GRCm39) |
E465G |
probably benign |
Het |
Cav2 |
T |
A |
6: 17,282,078 (GRCm39) |
I112N |
probably damaging |
Het |
Cep131 |
G |
A |
11: 119,957,539 (GRCm39) |
A848V |
probably damaging |
Het |
Col8a1 |
T |
A |
16: 57,447,555 (GRCm39) |
I652F |
unknown |
Het |
Cul4a |
A |
G |
8: 13,173,493 (GRCm39) |
N180S |
probably benign |
Het |
Dhx38 |
A |
G |
8: 110,287,327 (GRCm39) |
S214P |
probably damaging |
Het |
Dmxl2 |
A |
G |
9: 54,323,271 (GRCm39) |
V1197A |
possibly damaging |
Het |
Dynlt1f |
A |
G |
17: 6,923,181 (GRCm39) |
S7P |
not run |
Het |
Eef1ece2 |
T |
A |
16: 20,461,237 (GRCm39) |
Y641* |
probably null |
Het |
Epha1 |
T |
A |
6: 42,342,356 (GRCm39) |
T331S |
possibly damaging |
Het |
Hus1b |
A |
G |
13: 31,130,847 (GRCm39) |
Y271H |
probably damaging |
Het |
Kmt2b |
A |
G |
7: 30,268,978 (GRCm39) |
V2610A |
possibly damaging |
Het |
Lama2 |
A |
G |
10: 27,141,046 (GRCm39) |
L651P |
probably damaging |
Het |
Map1s |
T |
C |
8: 71,366,142 (GRCm39) |
V349A |
probably benign |
Het |
Map3k6 |
A |
G |
4: 132,977,388 (GRCm39) |
R912G |
probably benign |
Het |
Mtarc2 |
A |
T |
1: 184,573,622 (GRCm39) |
F92Y |
possibly damaging |
Het |
Nampt |
T |
A |
12: 32,900,433 (GRCm39) |
H459Q |
probably benign |
Het |
Nlrp1a |
T |
C |
11: 70,999,869 (GRCm39) |
M817V |
probably benign |
Het |
Npsr1 |
A |
G |
9: 24,225,026 (GRCm39) |
R345G |
probably benign |
Het |
Nuak2 |
G |
A |
1: 132,244,019 (GRCm39) |
A18T |
possibly damaging |
Het |
Or4d6 |
T |
C |
19: 12,086,385 (GRCm39) |
D175G |
possibly damaging |
Het |
Or5ak23 |
A |
G |
2: 85,244,479 (GRCm39) |
V248A |
probably damaging |
Het |
Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
Ppp4r3b |
T |
C |
11: 29,138,540 (GRCm39) |
F296S |
possibly damaging |
Het |
Pramel51 |
A |
T |
12: 88,143,085 (GRCm39) |
Y373N |
probably benign |
Het |
Pycr2 |
T |
C |
1: 180,732,083 (GRCm39) |
F19L |
probably benign |
Het |
Robo2 |
T |
A |
16: 73,832,003 (GRCm39) |
T226S |
possibly damaging |
Het |
Rock1 |
A |
T |
18: 10,140,194 (GRCm39) |
N132K |
probably damaging |
Het |
Rp1 |
A |
T |
1: 4,355,063 (GRCm39) |
L379Q |
unknown |
Het |
Sema6d |
A |
G |
2: 124,499,892 (GRCm39) |
I323V |
possibly damaging |
Het |
Slc12a4 |
A |
G |
8: 106,672,479 (GRCm39) |
I814T |
probably damaging |
Het |
Slc18a2 |
G |
A |
19: 59,272,584 (GRCm39) |
G352R |
probably damaging |
Het |
Slc39a14 |
T |
C |
14: 70,547,276 (GRCm39) |
T357A |
possibly damaging |
Het |
Smarcad1 |
T |
A |
6: 65,029,695 (GRCm39) |
D94E |
probably benign |
Het |
Sorcs2 |
A |
G |
5: 36,183,220 (GRCm39) |
Y1018H |
probably benign |
Het |
Srebf1 |
G |
T |
11: 60,090,947 (GRCm39) |
T1069K |
possibly damaging |
Het |
St3gal3 |
A |
G |
4: 117,821,553 (GRCm39) |
V123A |
probably benign |
Het |
Stradb |
A |
G |
1: 59,030,310 (GRCm39) |
Y188C |
unknown |
Het |
Styxl2 |
T |
C |
1: 165,935,604 (GRCm39) |
D198G |
probably damaging |
Het |
Sult2a2 |
T |
C |
7: 13,513,430 (GRCm39) |
F186L |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,974,164 (GRCm39) |
T1120A |
probably benign |
Het |
Taok1 |
A |
T |
11: 77,446,440 (GRCm39) |
S430T |
probably benign |
Het |
Tmem62 |
A |
T |
2: 120,837,411 (GRCm39) |
I573L |
probably benign |
Het |
Trav9-1 |
T |
C |
14: 53,725,581 (GRCm39) |
S7P |
probably benign |
Het |
U2af1l4 |
A |
T |
7: 30,262,982 (GRCm39) |
I24F |
probably damaging |
Het |
Usp33 |
T |
A |
3: 152,097,302 (GRCm39) |
I840N |
probably damaging |
Het |
Vmn2r74 |
A |
C |
7: 85,601,544 (GRCm39) |
I698S |
probably damaging |
Het |
Zfp352 |
C |
T |
4: 90,111,896 (GRCm39) |
P12L |
possibly damaging |
Het |
Zfp507 |
T |
A |
7: 35,493,969 (GRCm39) |
E358V |
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 |
|
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'- AAAAGCTCTGTTACCCAACTTTCC -3'
(R):5'- ATGCCTGTGTCTACCTTCGG -3'
Sequencing Primer
(F):5'- ACGTCTCGTGGGCATAAGG -3'
(R):5'- GTCTACCTTCGGGCTGTCAG -3'
|
Posted On |
2019-10-17 |