Incidental Mutation 'R8537:Lgr5'
| ID |
659294 |
| 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 |
067891-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8537 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
115286219-115423685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115288307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 779
(Y779C)
|
| 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: Y779C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020350
Gene: ENSMUSG00000020140
AA Change: Y779C
| 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: Y755C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133860
Gene: ENSMUSG00000020140
AA Change: Y755C
| 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: Y707C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133707
Gene: ENSMUSG00000020140
AA Change: Y707C
| 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 |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
A |
13: 81,684,491 (GRCm39) |
D1790V |
probably damaging |
Het |
| Aopep |
A |
T |
13: 63,338,364 (GRCm39) |
E579V |
probably damaging |
Het |
| Avl9 |
T |
A |
6: 56,705,644 (GRCm39) |
Y175* |
probably null |
Het |
| Bmp2 |
A |
T |
2: 133,403,202 (GRCm39) |
D251V |
probably damaging |
Het |
| Camsap2 |
T |
A |
1: 136,204,943 (GRCm39) |
K1191N |
probably damaging |
Het |
| Ccdc102a |
A |
C |
8: 95,632,684 (GRCm39) |
F431C |
probably benign |
Het |
| Ccdc186 |
T |
C |
19: 56,798,677 (GRCm39) |
I270M |
probably damaging |
Het |
| Copb2 |
A |
G |
9: 98,469,672 (GRCm39) |
Q851R |
probably null |
Het |
| Cyp11b2 |
C |
T |
15: 74,728,016 (GRCm39) |
R22K |
probably benign |
Het |
| Ddx50 |
A |
G |
10: 62,478,628 (GRCm39) |
F186S |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,280,012 (GRCm39) |
Y926C |
probably damaging |
Het |
| Dmrt2 |
T |
C |
19: 25,651,300 (GRCm39) |
M162T |
possibly damaging |
Het |
| Dnah10 |
G |
T |
5: 124,893,164 (GRCm39) |
G3309V |
probably damaging |
Het |
| Dnajb2 |
T |
C |
1: 75,216,242 (GRCm39) |
F107S |
probably damaging |
Het |
| Dock8 |
T |
A |
19: 25,107,870 (GRCm39) |
S867T |
probably benign |
Het |
| Eif2ak1 |
C |
A |
5: 143,835,887 (GRCm39) |
T526K |
probably damaging |
Het |
| Gnas |
T |
C |
2: 174,140,394 (GRCm39) |
S188P |
possibly damaging |
Het |
| Gpam |
T |
C |
19: 55,084,671 (GRCm39) |
D36G |
probably benign |
Het |
| Gucy2e |
C |
A |
11: 69,127,179 (GRCm39) |
R98L |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hnrnpu |
T |
C |
1: 178,161,199 (GRCm39) |
|
probably benign |
Het |
| Icos |
A |
G |
1: 61,033,101 (GRCm39) |
D100G |
probably damaging |
Het |
| Ifi203 |
A |
T |
1: 173,756,472 (GRCm39) |
|
probably benign |
Het |
| Ift46 |
T |
A |
9: 44,695,280 (GRCm39) |
L92Q |
probably damaging |
Het |
| Kcnip2 |
C |
T |
19: 45,804,169 (GRCm39) |
|
probably null |
Het |
| Ltk |
G |
T |
2: 119,588,588 (GRCm39) |
P287Q |
probably benign |
Het |
| Mapk8ip3 |
A |
T |
17: 25,120,652 (GRCm39) |
C852* |
probably null |
Het |
| Mmp27 |
A |
G |
9: 7,579,776 (GRCm39) |
M443V |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,234,184 (GRCm39) |
D769G |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,110,142 (GRCm39) |
I1107V |
probably benign |
Het |
| Nebl |
T |
A |
2: 17,355,520 (GRCm39) |
H211L |
probably benign |
Het |
| Oaz3 |
T |
A |
3: 94,343,742 (GRCm39) |
K40N |
probably damaging |
Het |
| Or5as1 |
T |
A |
2: 86,980,382 (GRCm39) |
T208S |
probably benign |
Het |
| Or7e169 |
T |
A |
9: 19,757,848 (GRCm39) |
E22D |
probably damaging |
Het |
| Osbpl10 |
G |
T |
9: 115,058,977 (GRCm39) |
A718S |
probably benign |
Het |
| Ppp3ca |
T |
A |
3: 136,503,619 (GRCm39) |
I64K |
possibly damaging |
Het |
| Prlr |
T |
C |
15: 10,314,266 (GRCm39) |
|
probably benign |
Het |
| Rab3ip |
A |
G |
10: 116,746,059 (GRCm39) |
I424T |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Sec62 |
G |
T |
3: 30,872,961 (GRCm39) |
R348L |
unknown |
Het |
| Sema5b |
C |
T |
16: 35,471,979 (GRCm39) |
A479V |
possibly damaging |
Het |
| Shank3 |
T |
C |
15: 89,416,418 (GRCm39) |
I222T |
probably damaging |
Het |
| Sp1 |
C |
T |
15: 102,316,964 (GRCm39) |
T154I |
possibly damaging |
Het |
| Spata31e1 |
A |
G |
13: 49,940,108 (GRCm39) |
V534A |
possibly damaging |
Het |
| Srek1 |
A |
G |
13: 103,888,957 (GRCm39) |
|
probably benign |
Het |
| Tmem129 |
A |
G |
5: 33,812,920 (GRCm39) |
S143P |
possibly damaging |
Het |
| Tmem202 |
A |
T |
9: 59,426,929 (GRCm39) |
C194S |
probably benign |
Het |
| Tmprss15 |
A |
T |
16: 78,884,403 (GRCm39) |
I93K |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,606,653 (GRCm39) |
Y16340H |
probably damaging |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
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 |
|
|
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'- AAACGGGTATGCTTTCCCAG -3'
(R):5'- AGTAAGTACAATGCCTCTCCCC -3'
Sequencing Primer
(F):5'- AGGCTGCCCATATCCTCCTTAAAATG -3'
(R):5'- GTACAATGCCTCTCCCCTCTGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation