Incidental Mutation 'R6605:Lgr5'
| ID |
525614 |
| 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 |
044728-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6605 (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 C
at 115293772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 408
(N408K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020350]
[ENSMUST00000172806]
[ENSMUST00000173740]
|
| AlphaFold |
Q9Z1P4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020350
AA Change: N432K
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000020350
Gene: ENSMUSG00000020140
AA Change: N432K
| 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 |
noncoding transcript
Transcript: ENSMUST00000105272
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144732
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172806
AA Change: N408K
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133860
Gene: ENSMUSG00000020140
AA Change: N408K
| 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: N360K
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000133707
Gene: ENSMUSG00000020140
AA Change: N360K
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
92% (35/38) |
| 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 |
|---|
| Abcc6 |
T |
A |
7: 45,630,481 (GRCm39) |
I1260F |
probably damaging |
Het |
| Acat2 |
A |
G |
17: 13,162,774 (GRCm39) |
V358A |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,636,081 (GRCm39) |
A3476V |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,229,516 (GRCm39) |
N150D |
probably damaging |
Het |
| Asb2 |
G |
T |
12: 103,311,943 (GRCm39) |
Q60K |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,650,134 (GRCm39) |
R708* |
probably null |
Het |
| Cd79b |
C |
T |
11: 106,203,539 (GRCm39) |
G116D |
probably damaging |
Het |
| Copg2 |
A |
G |
6: 30,835,757 (GRCm39) |
F218S |
probably benign |
Het |
| Defa5 |
A |
C |
8: 21,787,604 (GRCm39) |
E50D |
possibly damaging |
Het |
| Efcab3 |
T |
A |
11: 104,890,107 (GRCm39) |
|
probably null |
Het |
| Eva1c |
T |
A |
16: 90,663,236 (GRCm39) |
V91D |
probably damaging |
Het |
| Fosb |
T |
C |
7: 19,043,283 (GRCm39) |
Y25C |
probably damaging |
Het |
| Gm5141 |
G |
A |
13: 62,922,201 (GRCm39) |
H323Y |
probably damaging |
Het |
| Gpr19 |
T |
C |
6: 134,847,398 (GRCm39) |
N58S |
probably benign |
Het |
| Gpr26 |
G |
A |
7: 131,585,893 (GRCm39) |
A288T |
possibly damaging |
Het |
| Gucy2g |
T |
A |
19: 55,229,460 (GRCm39) |
Q70L |
probably damaging |
Het |
| Ifit2 |
C |
T |
19: 34,550,897 (GRCm39) |
R146* |
probably null |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Mief1 |
T |
A |
15: 80,132,692 (GRCm39) |
Y191* |
probably null |
Het |
| Npr3 |
C |
G |
15: 11,905,518 (GRCm39) |
A70P |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,208,541 (GRCm39) |
H56L |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,265,032 (GRCm39) |
|
probably null |
Het |
| Pnlip |
A |
T |
19: 58,660,174 (GRCm39) |
D29V |
probably benign |
Het |
| Pnpt1 |
T |
A |
11: 29,088,567 (GRCm39) |
F277I |
possibly damaging |
Het |
| Pou2f2 |
A |
C |
7: 24,793,006 (GRCm39) |
V441G |
probably damaging |
Het |
| Prdm4 |
A |
G |
10: 85,740,002 (GRCm39) |
V459A |
probably benign |
Het |
| Ptprs |
A |
T |
17: 56,729,195 (GRCm39) |
V855E |
probably damaging |
Het |
| Rflna |
A |
G |
5: 125,088,352 (GRCm39) |
T100A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,131,871 (GRCm39) |
S380T |
probably benign |
Het |
| Syn3 |
A |
G |
10: 85,893,428 (GRCm39) |
S472P |
unknown |
Het |
| Taar8a |
A |
T |
10: 23,952,674 (GRCm39) |
I93F |
possibly damaging |
Het |
| Taok2 |
T |
A |
7: 126,477,930 (GRCm39) |
D207V |
probably damaging |
Het |
| Tpst2 |
A |
T |
5: 112,424,600 (GRCm39) |
|
probably benign |
Homo |
| Trdv2-1 |
A |
G |
14: 54,183,999 (GRCm39) |
N77S |
possibly damaging |
Het |
| Wdr17 |
A |
C |
8: 55,134,559 (GRCm39) |
V18G |
probably benign |
Het |
| Zbtb17 |
T |
C |
4: 141,192,261 (GRCm39) |
V402A |
probably damaging |
Het |
| Zfp772 |
T |
C |
7: 7,208,547 (GRCm39) |
E99G |
possibly damaging |
Het |
| Zw10 |
A |
G |
9: 48,980,926 (GRCm39) |
D442G |
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 |
|
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'- CACGACAACTGTTCTTTCACATG -3'
(R):5'- TGCATTTCAAGTGTGTCCCC -3'
Sequencing Primer
(F):5'- GACAACTGTTCTTTCACATGATCAC -3'
(R):5'- CAAGTGTGTCCCCCTAGTGTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation