Incidental Mutation 'R2380:Lgr4'
| ID |
248412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lgr4
|
| Ensembl Gene |
ENSMUSG00000050199 |
| Gene Name |
leucine-rich repeat-containing G protein-coupled receptor 4 |
| Synonyms |
Gpr48, A330106J01Rik, A930009A08Rik |
| MMRRC Submission |
040356-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2380 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
109747992-109844602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109842738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 908
(Y908H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046548]
[ENSMUST00000111037]
|
| AlphaFold |
A2ARI4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046548
AA Change: Y908H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047325
Gene: ENSMUSG00000050199
AA Change: Y908H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
LRRNT
|
28 |
61 |
6.68e-6 |
SMART |
|
LRR
|
55 |
79 |
1.49e1 |
SMART |
|
LRR
|
80 |
103 |
1.99e0 |
SMART |
|
LRR_TYP
|
104 |
127 |
2.75e-3 |
SMART |
|
LRR_TYP
|
128 |
151 |
2.79e-4 |
SMART |
|
LRR
|
152 |
175 |
2.54e1 |
SMART |
|
LRR
|
176 |
199 |
4.65e-1 |
SMART |
|
LRR_TYP
|
200 |
223 |
1.04e-3 |
SMART |
|
LRR
|
224 |
246 |
6.4e0 |
SMART |
|
LRR_TYP
|
247 |
270 |
5.99e-4 |
SMART |
|
LRR
|
272 |
294 |
9.77e1 |
SMART |
|
LRR
|
318 |
341 |
3e1 |
SMART |
|
LRR
|
343 |
363 |
4.71e1 |
SMART |
|
LRR
|
364 |
387 |
1.49e1 |
SMART |
|
LRR_TYP
|
388 |
411 |
1.15e-5 |
SMART |
|
LRR
|
412 |
435 |
3.98e1 |
SMART |
|
low complexity region
|
500 |
516 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
555 |
801 |
2.7e-10 |
PFAM |
|
low complexity region
|
824 |
837 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
924 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111037
AA Change: Y884H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106666
Gene: ENSMUSG00000050199
AA Change: Y884H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
LRRNT
|
28 |
61 |
6.68e-6 |
SMART |
|
LRR
|
55 |
79 |
9.77e1 |
SMART |
|
LRR_TYP
|
80 |
103 |
2.75e-3 |
SMART |
|
LRR_TYP
|
104 |
127 |
2.79e-4 |
SMART |
|
LRR
|
128 |
151 |
2.54e1 |
SMART |
|
LRR
|
152 |
175 |
4.65e-1 |
SMART |
|
LRR_TYP
|
176 |
199 |
1.04e-3 |
SMART |
|
LRR
|
200 |
222 |
6.4e0 |
SMART |
|
LRR_TYP
|
223 |
246 |
5.99e-4 |
SMART |
|
LRR
|
248 |
270 |
9.77e1 |
SMART |
|
LRR
|
294 |
317 |
3e1 |
SMART |
|
LRR
|
319 |
339 |
4.71e1 |
SMART |
|
LRR
|
340 |
363 |
1.49e1 |
SMART |
|
LRR_TYP
|
364 |
387 |
1.15e-5 |
SMART |
|
LRR
|
388 |
411 |
3.98e1 |
SMART |
|
low complexity region
|
476 |
492 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
531 |
777 |
9.3e-17 |
PFAM |
|
low complexity region
|
800 |
813 |
N/A |
INTRINSIC |
|
low complexity region
|
886 |
900 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1070 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G-protein coupled receptor that binds R-spondins and activates the Wnt signaling pathway. This Wnt signaling pathway activation is necessary for proper development of many organs of the body. [provided by RefSeq, Oct 2016]
PHENOTYPE: Homozygotes for a knock-out allele show embryonic and perinatal death, open eyelids, and abnormal renal development. One gene trap mutation leads to reduced body weight, sterility, and impaired male reproductive tract development. Another gene trap mutation causes ocular anterior segment anomalies. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
C |
15: 81,949,036 (GRCm39) |
S978P |
possibly damaging |
Het |
| Ago3 |
G |
A |
4: 126,262,315 (GRCm39) |
R412C |
probably damaging |
Het |
| Ampd3 |
C |
T |
7: 110,399,917 (GRCm39) |
T344M |
probably damaging |
Het |
| Arl10 |
G |
T |
13: 54,722,962 (GRCm39) |
V19L |
probably benign |
Het |
| Aspm |
C |
T |
1: 139,407,086 (GRCm39) |
A1991V |
probably damaging |
Het |
| Axdnd1 |
A |
T |
1: 156,193,221 (GRCm39) |
D655E |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,196,878 (GRCm39) |
H1169R |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,023,586 (GRCm39) |
F942L |
probably damaging |
Het |
| Camk2g |
A |
G |
14: 20,789,455 (GRCm39) |
I205T |
probably damaging |
Het |
| Cdh5 |
C |
A |
8: 104,852,304 (GRCm39) |
H140N |
possibly damaging |
Het |
| Cog8 |
C |
A |
8: 107,782,993 (GRCm39) |
G99W |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,240,101 (GRCm39) |
C1104R |
probably damaging |
Het |
| Dhrs7c |
G |
A |
11: 67,706,690 (GRCm39) |
V283M |
probably benign |
Het |
| Emilin2 |
T |
A |
17: 71,617,219 (GRCm39) |
Q64L |
probably benign |
Het |
| Enpp3 |
T |
C |
10: 24,652,770 (GRCm39) |
E729G |
probably benign |
Het |
| Fam169a |
T |
A |
13: 97,255,043 (GRCm39) |
|
probably benign |
Het |
| Gvin-ps3 |
T |
C |
7: 105,681,374 (GRCm39) |
E627G |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,441,135 (GRCm39) |
M5374L |
probably benign |
Het |
| Hsd17b1 |
A |
T |
11: 100,969,289 (GRCm39) |
I8F |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,036,395 (GRCm39) |
E1111G |
probably benign |
Het |
| Kcmf1 |
A |
G |
6: 72,835,755 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
T |
A |
13: 47,227,231 (GRCm39) |
F574L |
probably damaging |
Het |
| Lig1 |
T |
C |
7: 13,037,722 (GRCm39) |
|
probably benign |
Het |
| Ltbp3 |
C |
A |
19: 5,801,551 (GRCm39) |
C698* |
probably null |
Het |
| Ncor2 |
A |
G |
5: 125,113,144 (GRCm39) |
V1216A |
possibly damaging |
Het |
| Or52e3 |
A |
T |
7: 102,869,815 (GRCm39) |
T297S |
possibly damaging |
Het |
| Or5b109 |
T |
C |
19: 13,212,085 (GRCm39) |
V157A |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,779,741 (GRCm39) |
T279A |
probably damaging |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Ppp5c |
A |
G |
7: 16,740,040 (GRCm39) |
Y434H |
probably damaging |
Het |
| Pwwp2b |
A |
G |
7: 138,835,366 (GRCm39) |
E269G |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,544,124 (GRCm39) |
T299S |
probably benign |
Het |
| Skint5 |
G |
A |
4: 113,403,733 (GRCm39) |
T1163I |
unknown |
Het |
| Slc35f4 |
A |
G |
14: 49,543,660 (GRCm39) |
|
probably null |
Het |
| Smr2l |
T |
G |
5: 88,430,413 (GRCm39) |
M103R |
probably benign |
Het |
| Trmt5 |
A |
G |
12: 73,331,888 (GRCm39) |
I4T |
probably benign |
Het |
| Ttc7b |
A |
G |
12: 100,321,260 (GRCm39) |
|
probably null |
Het |
| Utp6 |
A |
G |
11: 79,826,831 (GRCm39) |
S582P |
possibly damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,351,552 (GRCm39) |
S222P |
probably damaging |
Het |
| Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
probably benign |
Het |
|
| Other mutations in Lgr4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02043:Lgr4
|
APN |
2 |
109,841,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02247:Lgr4
|
APN |
2 |
109,838,420 (GRCm39) |
splice site |
probably benign |
|
|
IGL02247:Lgr4
|
APN |
2 |
109,832,846 (GRCm39) |
missense |
probably benign |
|
|
IGL02302:Lgr4
|
APN |
2 |
109,832,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02309:Lgr4
|
APN |
2 |
109,842,880 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02511:Lgr4
|
APN |
2 |
109,841,617 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02604:Lgr4
|
APN |
2 |
109,841,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02648:Lgr4
|
APN |
2 |
109,842,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02795:Lgr4
|
APN |
2 |
109,838,555 (GRCm39) |
splice site |
probably benign |
|
|
IGL02899:Lgr4
|
APN |
2 |
109,748,598 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0003:Lgr4
|
UTSW |
2 |
109,828,010 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0200:Lgr4
|
UTSW |
2 |
109,801,035 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0314:Lgr4
|
UTSW |
2 |
109,821,438 (GRCm39) |
splice site |
probably benign |
|
|
R0482:Lgr4
|
UTSW |
2 |
109,838,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0491:Lgr4
|
UTSW |
2 |
109,837,626 (GRCm39) |
splice site |
probably benign |
|
|
R0517:Lgr4
|
UTSW |
2 |
109,841,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0546:Lgr4
|
UTSW |
2 |
109,829,766 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0658:Lgr4
|
UTSW |
2 |
109,842,132 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1367:Lgr4
|
UTSW |
2 |
109,821,480 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1864:Lgr4
|
UTSW |
2 |
109,841,742 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1977:Lgr4
|
UTSW |
2 |
109,842,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2239:Lgr4
|
UTSW |
2 |
109,842,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2383:Lgr4
|
UTSW |
2 |
109,830,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2997:Lgr4
|
UTSW |
2 |
109,833,862 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3707:Lgr4
|
UTSW |
2 |
109,801,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3803:Lgr4
|
UTSW |
2 |
109,838,542 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3804:Lgr4
|
UTSW |
2 |
109,838,542 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3843:Lgr4
|
UTSW |
2 |
109,827,118 (GRCm39) |
splice site |
probably benign |
|
|
R4030:Lgr4
|
UTSW |
2 |
109,820,096 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4513:Lgr4
|
UTSW |
2 |
109,842,361 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4777:Lgr4
|
UTSW |
2 |
109,827,027 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4912:Lgr4
|
UTSW |
2 |
109,836,847 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4994:Lgr4
|
UTSW |
2 |
109,842,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5106:Lgr4
|
UTSW |
2 |
109,827,940 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5131:Lgr4
|
UTSW |
2 |
109,842,678 (GRCm39) |
missense |
probably benign |
|
|
R5152:Lgr4
|
UTSW |
2 |
109,830,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5753:Lgr4
|
UTSW |
2 |
109,832,857 (GRCm39) |
nonsense |
probably null |
|
|
R5860:Lgr4
|
UTSW |
2 |
109,821,496 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5914:Lgr4
|
UTSW |
2 |
109,748,617 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6145:Lgr4
|
UTSW |
2 |
109,837,588 (GRCm39) |
nonsense |
probably null |
|
|
R6263:Lgr4
|
UTSW |
2 |
109,842,243 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6400:Lgr4
|
UTSW |
2 |
109,821,478 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6924:Lgr4
|
UTSW |
2 |
109,842,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7171:Lgr4
|
UTSW |
2 |
109,831,314 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7326:Lgr4
|
UTSW |
2 |
109,826,974 (GRCm39) |
nonsense |
probably null |
|
|
R7593:Lgr4
|
UTSW |
2 |
109,829,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7659:Lgr4
|
UTSW |
2 |
109,827,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7707:Lgr4
|
UTSW |
2 |
109,827,936 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7936:Lgr4
|
UTSW |
2 |
109,836,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7940:Lgr4
|
UTSW |
2 |
109,836,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8062:Lgr4
|
UTSW |
2 |
109,831,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8153:Lgr4
|
UTSW |
2 |
109,830,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9225:Lgr4
|
UTSW |
2 |
109,842,485 (GRCm39) |
missense |
probably benign |
|
|
R9434:Lgr4
|
UTSW |
2 |
109,836,907 (GRCm39) |
missense |
probably benign |
|
|
R9557:Lgr4
|
UTSW |
2 |
109,827,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0053:Lgr4
|
UTSW |
2 |
109,841,782 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCCCACTTGCAGGGTAAC -3'
(R):5'- AAGTCCTTCCCAGATGAAAGGTC -3'
Sequencing Primer
(F):5'- AACCTGACTGTCTGTGACTG -3'
(R):5'- GTCCTTCCCAGATGAAAGGTCAAAAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation