Incidental Mutation 'R9188:Lrig3'
| ID |
697533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrig3
|
| Ensembl Gene |
ENSMUSG00000020105 |
| Gene Name |
leucine-rich repeats and immunoglobulin-like domains 3 |
| Synonyms |
9430095K15Rik, 9030421L11Rik, 9130004I02Rik |
| MMRRC Submission |
068980-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R9188 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
125802088-125851228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125838935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 481
(R481G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074807]
|
| AlphaFold |
Q6P1C6 |
| PDB Structure |
Crystal structure of an Immunoglobulin I-set domain of Lrig3 protein (Lrig3) from MUS MUSCULUS at 1.70 A resolution [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074807
AA Change: R481G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000074360
Gene: ENSMUSG00000020105
AA Change: R481G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
LRRNT
|
46 |
78 |
6.74e-2 |
SMART |
|
LRR
|
72 |
96 |
4.45e1 |
SMART |
|
LRR
|
97 |
120 |
1.06e1 |
SMART |
|
LRR
|
144 |
166 |
1.14e0 |
SMART |
|
LRR
|
168 |
189 |
1.62e2 |
SMART |
|
LRR
|
190 |
214 |
1.09e1 |
SMART |
|
LRR
|
215 |
237 |
1.71e1 |
SMART |
|
LRR
|
238 |
261 |
2.29e0 |
SMART |
|
LRR
|
262 |
285 |
3.07e-1 |
SMART |
|
LRR
|
286 |
309 |
2.49e-1 |
SMART |
|
LRR
|
310 |
333 |
1.29e1 |
SMART |
|
LRR
|
334 |
357 |
6.22e0 |
SMART |
|
LRR
|
358 |
384 |
6.05e0 |
SMART |
|
LRR_TYP
|
385 |
408 |
1.56e-2 |
SMART |
|
LRR_TYP
|
409 |
432 |
1.79e-2 |
SMART |
|
LRRCT
|
444 |
494 |
2.35e-7 |
SMART |
|
IGc2
|
511 |
588 |
1.65e-4 |
SMART |
|
IGc2
|
615 |
683 |
1.33e-8 |
SMART |
|
IGc2
|
709 |
774 |
2.78e-11 |
SMART |
|
transmembrane domain
|
805 |
827 |
N/A |
INTRINSIC |
|
low complexity region
|
1069 |
1081 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (71/71) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele or severely hypomorphic gene trap allele exhibit fusion of the lateral semicircular canal and circling behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
G |
T |
6: 83,139,230 (GRCm39) |
R385L |
probably benign |
Het |
| Abca8b |
A |
T |
11: 109,872,561 (GRCm39) |
C13* |
probably null |
Het |
| Actc1 |
T |
C |
2: 113,880,979 (GRCm39) |
D82G |
probably damaging |
Het |
| Adamts1 |
G |
A |
16: 85,599,571 (GRCm39) |
R10C |
probably damaging |
Het |
| Ankle2 |
G |
A |
5: 110,400,610 (GRCm39) |
V649M |
possibly damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,390,983 (GRCm39) |
I4V |
possibly damaging |
Het |
| Asic2 |
A |
G |
11: 81,042,738 (GRCm39) |
F185S |
probably benign |
Het |
| Asmt |
G |
A |
X: 169,111,583 (GRCm39) |
E322K |
probably damaging |
Het |
| Caprin2 |
T |
C |
6: 148,767,422 (GRCm39) |
D512G |
probably benign |
Het |
| Cltc |
A |
C |
11: 86,627,992 (GRCm39) |
I52S |
probably damaging |
Het |
| Cntn2 |
A |
G |
1: 132,443,276 (GRCm39) |
L1040P |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,509,614 (GRCm39) |
T3019A |
probably benign |
Het |
| Crisp4 |
A |
T |
1: 18,192,990 (GRCm39) |
C242* |
probably null |
Het |
| Crocc |
G |
T |
4: 140,747,151 (GRCm39) |
N1716K |
probably benign |
Het |
| Cstf3 |
A |
G |
2: 104,439,223 (GRCm39) |
E12G |
possibly damaging |
Het |
| Dnai4 |
T |
C |
4: 102,939,332 (GRCm39) |
T77A |
|
Het |
| Drc3 |
G |
T |
11: 60,249,615 (GRCm39) |
V45F |
probably damaging |
Het |
| Etv4 |
A |
G |
11: 101,666,202 (GRCm39) |
S108P |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,643,017 (GRCm39) |
D31E |
probably damaging |
Het |
| F11 |
A |
T |
8: 45,698,736 (GRCm39) |
D469E |
probably benign |
Het |
| Fzd7 |
A |
G |
1: 59,523,797 (GRCm39) |
H560R |
probably benign |
Het |
| Gabrp |
A |
G |
11: 33,517,252 (GRCm39) |
I140T |
possibly damaging |
Het |
| Get1 |
A |
G |
16: 95,955,363 (GRCm39) |
D140G |
probably benign |
Het |
| Gna15 |
T |
C |
10: 81,343,798 (GRCm39) |
T288A |
probably benign |
Het |
| Gucy2c |
T |
C |
6: 136,700,756 (GRCm39) |
D586G |
probably benign |
Het |
| H2-D1 |
T |
C |
17: 35,484,778 (GRCm39) |
V213A |
probably damaging |
Het |
| Hsd3b1 |
A |
T |
3: 98,760,216 (GRCm39) |
D258E |
probably damaging |
Het |
| Ier3 |
G |
T |
17: 36,132,779 (GRCm39) |
G57W |
probably damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,426,171 (GRCm39) |
C85S |
probably damaging |
Het |
| Ivd |
G |
T |
2: 118,710,942 (GRCm39) |
G384C |
probably damaging |
Het |
| Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
| Jak2 |
A |
C |
19: 29,288,353 (GRCm39) |
D1068A |
probably damaging |
Het |
| Klk4 |
T |
C |
7: 43,534,797 (GRCm39) |
I252T |
probably damaging |
Het |
| Klra17 |
A |
T |
6: 129,808,523 (GRCm39) |
C237S |
probably damaging |
Het |
| Krtap1-3 |
T |
C |
11: 99,481,887 (GRCm39) |
T87A |
unknown |
Het |
| Lbhd1 |
A |
T |
19: 8,864,397 (GRCm39) |
|
probably null |
Het |
| Lrrc1 |
T |
C |
9: 77,362,487 (GRCm39) |
Y247C |
probably benign |
Het |
| Marchf1 |
T |
A |
8: 66,908,803 (GRCm39) |
Y174* |
probably null |
Het |
| Mlxip |
A |
T |
5: 123,583,642 (GRCm39) |
T402S |
probably benign |
Het |
| Mmd2 |
T |
C |
5: 142,560,957 (GRCm39) |
K93E |
probably damaging |
Het |
| Mmp27 |
A |
G |
9: 7,579,792 (GRCm39) |
D422G |
possibly damaging |
Het |
| Mroh7 |
T |
C |
4: 106,566,789 (GRCm39) |
I487V |
probably benign |
Het |
| Nectin2 |
A |
G |
7: 19,453,119 (GRCm39) |
|
probably null |
Het |
| Nfkbia |
A |
T |
12: 55,537,258 (GRCm39) |
L277H |
probably damaging |
Het |
| Or4n5 |
T |
C |
14: 50,132,366 (GRCm39) |
M298V |
probably benign |
Het |
| Or52r1 |
T |
A |
7: 102,536,596 (GRCm39) |
I255F |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,534,095 (GRCm39) |
V1410M |
probably damaging |
Het |
| Pcdhb11 |
A |
G |
18: 37,556,188 (GRCm39) |
N506S |
probably damaging |
Het |
| Pik3c2g |
A |
C |
6: 139,599,401 (GRCm39) |
E172D |
possibly damaging |
Het |
| Plch1 |
T |
C |
3: 63,639,075 (GRCm39) |
D466G |
probably null |
Het |
| Plekha6 |
C |
T |
1: 133,220,171 (GRCm39) |
R955W |
probably damaging |
Het |
| Ppm1d |
T |
A |
11: 85,236,747 (GRCm39) |
S509T |
possibly damaging |
Het |
| Prmt7 |
A |
G |
8: 106,961,486 (GRCm39) |
D133G |
probably damaging |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,594,263 (GRCm39) |
I394M |
probably benign |
Het |
| Rgl1 |
G |
T |
1: 152,394,922 (GRCm39) |
N715K |
probably damaging |
Het |
| Rnf212 |
G |
T |
5: 108,922,811 (GRCm39) |
S13* |
probably null |
Het |
| Rpgrip1l |
T |
C |
8: 92,031,638 (GRCm39) |
T80A |
probably damaging |
Het |
| Rsl1 |
G |
T |
13: 67,330,185 (GRCm39) |
S211I |
probably benign |
Het |
| Serpinb9d |
A |
G |
13: 33,386,843 (GRCm39) |
M304V |
probably damaging |
Het |
| Sh3rf1 |
G |
T |
8: 61,814,807 (GRCm39) |
|
probably null |
Het |
| Snx16 |
C |
A |
3: 10,485,835 (GRCm39) |
K261N |
possibly damaging |
Het |
| Srebf2 |
G |
A |
15: 82,066,357 (GRCm39) |
R635Q |
probably benign |
Het |
| Styxl1 |
T |
C |
5: 135,794,672 (GRCm39) |
|
probably null |
Het |
| Tarbp2 |
A |
G |
15: 102,430,946 (GRCm39) |
D233G |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,421,234 (GRCm39) |
N633Y |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,585,693 (GRCm39) |
L190P |
probably benign |
Het |
| Tmem87a |
C |
T |
2: 120,233,244 (GRCm39) |
G55D |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,733,468 (GRCm39) |
Y4602* |
probably null |
Het |
| Unc5b |
A |
T |
10: 60,609,550 (GRCm39) |
L582Q |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,610,025 (GRCm39) |
D31G |
probably damaging |
Het |
| Zbtb32 |
C |
T |
7: 30,291,320 (GRCm39) |
|
probably benign |
Het |
| Zfp936 |
C |
T |
7: 42,839,768 (GRCm39) |
L412F |
probably benign |
Het |
|
| Other mutations in Lrig3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Lrig3
|
APN |
10 |
125,849,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00426:Lrig3
|
APN |
10 |
125,808,006 (GRCm39) |
nonsense |
probably null |
|
|
IGL00969:Lrig3
|
APN |
10 |
125,832,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01376:Lrig3
|
APN |
10 |
125,830,335 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01510:Lrig3
|
APN |
10 |
125,844,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01825:Lrig3
|
APN |
10 |
125,845,886 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02231:Lrig3
|
APN |
10 |
125,833,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02377:Lrig3
|
APN |
10 |
125,850,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02648:Lrig3
|
APN |
10 |
125,802,463 (GRCm39) |
missense |
probably benign |
|
|
IGL02832:Lrig3
|
APN |
10 |
125,842,871 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL03266:Lrig3
|
APN |
10 |
125,849,151 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0023:Lrig3
|
UTSW |
10 |
125,846,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0129:Lrig3
|
UTSW |
10 |
125,842,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0183:Lrig3
|
UTSW |
10 |
125,846,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0226:Lrig3
|
UTSW |
10 |
125,807,986 (GRCm39) |
splice site |
probably benign |
|
|
R0233:Lrig3
|
UTSW |
10 |
125,849,395 (GRCm39) |
splice site |
probably null |
|
|
R0233:Lrig3
|
UTSW |
10 |
125,849,395 (GRCm39) |
splice site |
probably null |
|
|
R0336:Lrig3
|
UTSW |
10 |
125,802,574 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0348:Lrig3
|
UTSW |
10 |
125,849,317 (GRCm39) |
nonsense |
probably null |
|
|
R0502:Lrig3
|
UTSW |
10 |
125,844,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0639:Lrig3
|
UTSW |
10 |
125,846,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1099:Lrig3
|
UTSW |
10 |
125,842,883 (GRCm39) |
splice site |
probably null |
|
|
R1220:Lrig3
|
UTSW |
10 |
125,832,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1230:Lrig3
|
UTSW |
10 |
125,838,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1398:Lrig3
|
UTSW |
10 |
125,838,957 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1451:Lrig3
|
UTSW |
10 |
125,845,926 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1523:Lrig3
|
UTSW |
10 |
125,844,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1545:Lrig3
|
UTSW |
10 |
125,844,416 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1661:Lrig3
|
UTSW |
10 |
125,833,570 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1665:Lrig3
|
UTSW |
10 |
125,833,570 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1673:Lrig3
|
UTSW |
10 |
125,846,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1778:Lrig3
|
UTSW |
10 |
125,845,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1800:Lrig3
|
UTSW |
10 |
125,832,920 (GRCm39) |
splice site |
probably null |
|
|
R1840:Lrig3
|
UTSW |
10 |
125,849,258 (GRCm39) |
nonsense |
probably null |
|
|
R1882:Lrig3
|
UTSW |
10 |
125,845,694 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1900:Lrig3
|
UTSW |
10 |
125,838,262 (GRCm39) |
splice site |
probably benign |
|
|
R2160:Lrig3
|
UTSW |
10 |
125,833,565 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2200:Lrig3
|
UTSW |
10 |
125,832,478 (GRCm39) |
splice site |
probably null |
|
|
R2294:Lrig3
|
UTSW |
10 |
125,802,363 (GRCm39) |
nonsense |
probably null |
|
|
R2518:Lrig3
|
UTSW |
10 |
125,830,310 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3037:Lrig3
|
UTSW |
10 |
125,845,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3236:Lrig3
|
UTSW |
10 |
125,833,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4073:Lrig3
|
UTSW |
10 |
125,849,277 (GRCm39) |
missense |
probably benign |
|
|
R4074:Lrig3
|
UTSW |
10 |
125,849,277 (GRCm39) |
missense |
probably benign |
|
|
R4075:Lrig3
|
UTSW |
10 |
125,849,277 (GRCm39) |
missense |
probably benign |
|
|
R4077:Lrig3
|
UTSW |
10 |
125,845,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4079:Lrig3
|
UTSW |
10 |
125,845,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4405:Lrig3
|
UTSW |
10 |
125,846,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4425:Lrig3
|
UTSW |
10 |
125,849,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4505:Lrig3
|
UTSW |
10 |
125,849,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4860:Lrig3
|
UTSW |
10 |
125,846,921 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4860:Lrig3
|
UTSW |
10 |
125,846,921 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4903:Lrig3
|
UTSW |
10 |
125,832,482 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5201:Lrig3
|
UTSW |
10 |
125,849,020 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5307:Lrig3
|
UTSW |
10 |
125,842,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5402:Lrig3
|
UTSW |
10 |
125,844,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5557:Lrig3
|
UTSW |
10 |
125,808,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5792:Lrig3
|
UTSW |
10 |
125,845,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5903:Lrig3
|
UTSW |
10 |
125,844,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6280:Lrig3
|
UTSW |
10 |
125,846,848 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6484:Lrig3
|
UTSW |
10 |
125,832,478 (GRCm39) |
splice site |
probably null |
|
|
R6985:Lrig3
|
UTSW |
10 |
125,850,738 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7089:Lrig3
|
UTSW |
10 |
125,832,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7177:Lrig3
|
UTSW |
10 |
125,842,712 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7347:Lrig3
|
UTSW |
10 |
125,845,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9093:Lrig3
|
UTSW |
10 |
125,845,950 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9295:Lrig3
|
UTSW |
10 |
125,850,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9378:Lrig3
|
UTSW |
10 |
125,832,953 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9526:Lrig3
|
UTSW |
10 |
125,850,736 (GRCm39) |
missense |
probably benign |
|
|
R9567:Lrig3
|
UTSW |
10 |
125,845,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACGTTCGGTTTCCTGATC -3'
(R):5'- ACTTTGTCTACCTCAGCAGAAG -3'
Sequencing Primer
(F):5'- GCTTGCCTCATATTTACGTAGG -3'
(R):5'- CTCAGCAGAAGAGGAAAAGCTTATTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation