Incidental Mutation 'R7964:Lgr5'
| ID |
650279 |
| 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 |
046007-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7964 (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 115288079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 855
(D855G)
|
| 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: D855G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000020350
Gene: ENSMUSG00000020140
AA Change: D855G
| 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: D831G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133860
Gene: ENSMUSG00000020140
AA Change: D831G
| 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: D783G
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133707
Gene: ENSMUSG00000020140
AA Change: D783G
| 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: 99.6%
- 20x: 98.8%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,266,146 (GRCm39) |
M3042L |
probably benign |
Het |
| Abca3 |
T |
A |
17: 24,621,410 (GRCm39) |
L1345Q |
probably benign |
Het |
| Adam20 |
G |
T |
8: 41,249,944 (GRCm39) |
V685F |
probably damaging |
Het |
| Adam25 |
T |
A |
8: 41,208,576 (GRCm39) |
I614N |
probably damaging |
Het |
| Aldh1a7 |
C |
T |
19: 20,677,371 (GRCm39) |
V417M |
probably damaging |
Het |
| Aldh1a7 |
C |
T |
19: 20,693,406 (GRCm39) |
G171D |
probably benign |
Het |
| Aloxe3 |
T |
C |
11: 69,017,362 (GRCm39) |
F45S |
probably damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,500,160 (GRCm39) |
I1104V |
probably benign |
Het |
| Ap3d1 |
C |
A |
10: 80,565,891 (GRCm39) |
R92L |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,408,424 (GRCm39) |
Q2437R |
probably damaging |
Het |
| Bcl11a |
T |
C |
11: 24,113,353 (GRCm39) |
I232T |
probably benign |
Het |
| Cdcp3 |
G |
T |
7: 130,899,963 (GRCm39) |
R2102L |
unknown |
Het |
| Cemip2 |
T |
C |
19: 21,775,794 (GRCm39) |
|
probably null |
Het |
| Cfap97 |
A |
G |
8: 46,623,237 (GRCm39) |
D209G |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,417,303 (GRCm39) |
M2754V |
|
Het |
| Dcdc2c |
A |
G |
12: 28,520,318 (GRCm39) |
I586T |
|
Het |
| Dkk4 |
T |
C |
8: 23,115,368 (GRCm39) |
C73R |
probably damaging |
Het |
| Dnai3 |
T |
C |
3: 145,774,531 (GRCm39) |
N439D |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,772,268 (GRCm39) |
D467G |
probably damaging |
Het |
| Eif5 |
T |
C |
12: 111,506,608 (GRCm39) |
F67L |
probably benign |
Het |
| Elmod1 |
A |
G |
9: 53,838,860 (GRCm39) |
I100T |
probably benign |
Het |
| Gm9837 |
A |
G |
11: 53,361,001 (GRCm39) |
L71P |
unknown |
Het |
| Hpse |
A |
G |
5: 100,846,777 (GRCm39) |
|
probably null |
Het |
| Insc |
T |
C |
7: 114,445,708 (GRCm39) |
L472P |
probably damaging |
Het |
| Itgax |
A |
C |
7: 127,739,590 (GRCm39) |
|
probably null |
Het |
| Lair1 |
A |
G |
7: 4,013,803 (GRCm39) |
V148A |
probably benign |
Het |
| Lama2 |
A |
G |
10: 27,099,977 (GRCm39) |
|
probably null |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lrp1 |
C |
A |
10: 127,410,913 (GRCm39) |
R1425L |
possibly damaging |
Het |
| Lrp1b |
A |
G |
2: 40,488,523 (GRCm39) |
S4521P |
|
Het |
| Nbas |
A |
G |
12: 13,406,896 (GRCm39) |
Y831C |
probably damaging |
Het |
| Nek9 |
C |
A |
12: 85,385,787 (GRCm39) |
R70L |
probably benign |
Het |
| Nlrp2 |
A |
C |
7: 5,331,527 (GRCm39) |
L290V |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 118,038,607 (GRCm39) |
I480N |
probably damaging |
Het |
| Or4a80 |
T |
C |
2: 89,583,158 (GRCm39) |
N5D |
possibly damaging |
Het |
| Pcdhb13 |
C |
A |
18: 37,577,871 (GRCm39) |
Q750K |
possibly damaging |
Het |
| Pik3c2g |
C |
T |
6: 139,827,786 (GRCm39) |
T727I |
|
Het |
| Pik3r6 |
C |
A |
11: 68,424,565 (GRCm39) |
P390Q |
probably benign |
Het |
| Pramel1 |
T |
C |
4: 143,123,810 (GRCm39) |
S162P |
probably benign |
Het |
| Psg21 |
A |
G |
7: 18,381,136 (GRCm39) |
M469T |
probably benign |
Het |
| Psg27 |
A |
T |
7: 18,299,124 (GRCm39) |
W66R |
probably damaging |
Het |
| Sbno2 |
A |
G |
10: 79,904,185 (GRCm39) |
C371R |
probably damaging |
Het |
| Shroom1 |
G |
T |
11: 53,355,149 (GRCm39) |
K329N |
possibly damaging |
Het |
| Slc35a3 |
A |
G |
3: 116,480,984 (GRCm39) |
I93T |
possibly damaging |
Het |
| Slc38a2 |
G |
A |
15: 96,590,453 (GRCm39) |
T297M |
probably benign |
Het |
| Sorl1 |
T |
A |
9: 41,902,697 (GRCm39) |
D1620V |
probably damaging |
Het |
| Srsf4 |
T |
A |
4: 131,618,544 (GRCm39) |
L45Q |
probably benign |
Het |
| Tcaf2 |
G |
A |
6: 42,606,640 (GRCm39) |
S438L |
probably benign |
Het |
| Trappc11 |
T |
A |
8: 47,979,979 (GRCm39) |
I186L |
possibly damaging |
Het |
| Usp9y |
A |
T |
Y: 1,316,914 (GRCm39) |
N1878K |
probably benign |
Het |
| Zfp280d |
T |
A |
9: 72,229,740 (GRCm39) |
M349K |
probably damaging |
Het |
| Zgpat |
A |
G |
2: 181,020,274 (GRCm39) |
H227R |
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 |
|
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'- CTCTCATAGTCACTAGAGACATGGG -3'
(R):5'- GCCAACTGCATCCTTTACTG -3'
Sequencing Primer
(F):5'- TAGTCACTAGAGACATGGGACAAATG -3'
(R):5'- AAACCTCACCTTTATCAGTCCTGACG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation