Incidental Mutation 'R9093:Lrig3'
| ID |
691158 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R9093 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
125802088-125851228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 125845950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 793
(P793L)
|
| 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: P793L
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000074360
Gene: ENSMUSG00000020105
AA Change: P793L
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
97% (76/78) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
T |
2: 69,069,513 (GRCm39) |
V1294E |
probably damaging |
Het |
| Ada |
C |
T |
2: 163,577,308 (GRCm39) |
G60D |
probably benign |
Het |
| Aff3 |
G |
T |
1: 38,291,738 (GRCm39) |
R390S |
possibly damaging |
Het |
| Aldh3b3 |
T |
A |
19: 4,013,959 (GRCm39) |
N53K |
possibly damaging |
Het |
| Ankrd36 |
G |
A |
11: 5,589,132 (GRCm39) |
M410I |
probably benign |
Het |
| Ap2b1 |
T |
A |
11: 83,215,395 (GRCm39) |
I113N |
probably damaging |
Het |
| Art5 |
G |
T |
7: 101,747,396 (GRCm39) |
H128N |
probably benign |
Het |
| Calhm2 |
A |
C |
19: 47,121,599 (GRCm39) |
L190R |
probably benign |
Het |
| Catsperg1 |
G |
C |
7: 28,884,152 (GRCm39) |
T987R |
probably damaging |
Het |
| Cdh18 |
A |
T |
15: 23,474,064 (GRCm39) |
I645F |
probably damaging |
Het |
| Cenpe |
C |
T |
3: 134,945,641 (GRCm39) |
Q1052* |
probably null |
Het |
| Cfap221 |
G |
T |
1: 119,863,856 (GRCm39) |
Q563K |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,651,770 (GRCm39) |
E3093D |
probably benign |
Het |
| Chd4 |
A |
G |
6: 125,090,974 (GRCm39) |
M1186V |
probably benign |
Het |
| Chst15 |
A |
T |
7: 131,870,646 (GRCm39) |
|
probably null |
Het |
| Clca3a2 |
T |
C |
3: 144,781,481 (GRCm39) |
T688A |
probably benign |
Het |
| Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
| Cul1 |
T |
A |
6: 47,495,173 (GRCm39) |
N518K |
probably damaging |
Het |
| E230025N22Rik |
G |
T |
18: 36,821,952 (GRCm39) |
L247I |
possibly damaging |
Het |
| Eno4 |
A |
T |
19: 58,941,600 (GRCm39) |
K174* |
probably null |
Het |
| Enpp3 |
G |
A |
10: 24,671,702 (GRCm39) |
P431S |
probably benign |
Het |
| Fbh1 |
T |
A |
2: 11,764,801 (GRCm39) |
Q444H |
probably damaging |
Het |
| Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
| Fbxw14 |
A |
G |
9: 109,105,250 (GRCm39) |
I305T |
probably benign |
Het |
| Fhip1b |
T |
A |
7: 105,034,599 (GRCm39) |
T408S |
probably damaging |
Het |
| Gas2 |
T |
A |
7: 51,602,969 (GRCm39) |
C216S |
probably damaging |
Het |
| Gjb3 |
GCCAGATGCGCCCA |
GCCAGATGCGCCCAGATGCGCCCA |
4: 127,220,458 (GRCm39) |
|
probably null |
Het |
| Glp2r |
T |
A |
11: 67,621,459 (GRCm39) |
R344* |
probably null |
Het |
| Gm17430 |
A |
G |
18: 9,726,640 (GRCm39) |
Y11H |
probably damaging |
Het |
| Gyg1 |
T |
A |
3: 20,176,901 (GRCm39) |
D363V |
probably damaging |
Het |
| H2bc18 |
G |
A |
3: 96,177,290 (GRCm39) |
A75T |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,411,677 (GRCm39) |
N451S |
probably benign |
Het |
| Hif1a |
T |
C |
12: 73,979,111 (GRCm39) |
Y212H |
probably benign |
Het |
| Hoxd11 |
A |
T |
2: 74,514,482 (GRCm39) |
*337C |
probably null |
Het |
| Kif24 |
A |
G |
4: 41,428,691 (GRCm39) |
F90L |
probably benign |
Het |
| Klhl20 |
A |
T |
1: 160,923,231 (GRCm39) |
C497* |
probably null |
Het |
| Loxl1 |
C |
A |
9: 58,219,224 (GRCm39) |
A316S |
probably benign |
Het |
| Macc1 |
A |
G |
12: 119,410,561 (GRCm39) |
D443G |
probably benign |
Het |
| Maip1 |
A |
T |
1: 57,446,311 (GRCm39) |
Y127F |
possibly damaging |
Het |
| Mrm2 |
A |
T |
5: 140,314,427 (GRCm39) |
F136Y |
probably benign |
Het |
| Nasp |
G |
T |
4: 116,468,017 (GRCm39) |
L323I |
probably benign |
Het |
| Ndufb8 |
A |
T |
19: 44,538,823 (GRCm39) |
L166Q |
probably damaging |
Het |
| Nid2 |
C |
T |
14: 19,858,009 (GRCm39) |
T1274I |
|
Het |
| Nup210 |
T |
A |
6: 91,066,872 (GRCm39) |
T160S |
probably benign |
Het |
| Nutm2 |
A |
G |
13: 50,628,964 (GRCm39) |
K676R |
probably damaging |
Het |
| Odad1 |
G |
A |
7: 45,596,965 (GRCm39) |
V431I |
possibly damaging |
Het |
| Or10a3n |
T |
C |
7: 108,493,609 (GRCm39) |
R7G |
probably benign |
Het |
| Or2a20 |
A |
G |
6: 43,194,500 (GRCm39) |
T218A |
probably benign |
Het |
| Or56b1b |
A |
T |
7: 108,164,454 (GRCm39) |
C183S |
probably damaging |
Het |
| Or5ak20 |
T |
A |
2: 85,183,852 (GRCm39) |
R139S |
probably benign |
Het |
| Or7g33 |
A |
G |
9: 19,448,914 (GRCm39) |
V104A |
probably benign |
Het |
| Or8b9 |
A |
T |
9: 37,766,294 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or9m1 |
A |
T |
2: 87,733,480 (GRCm39) |
I180N |
probably benign |
Het |
| Pcdhga12 |
C |
A |
18: 37,899,931 (GRCm39) |
N254K |
possibly damaging |
Het |
| Pm20d1 |
G |
T |
1: 131,743,753 (GRCm39) |
V473F |
probably benign |
Het |
| Pou2af2 |
G |
A |
9: 51,201,516 (GRCm39) |
P180L |
possibly damaging |
Het |
| Rab11fip1 |
A |
G |
8: 27,633,355 (GRCm39) |
V596A |
probably damaging |
Het |
| Rapgef6 |
C |
T |
11: 54,487,912 (GRCm39) |
Q13* |
probably null |
Het |
| Rasef |
T |
C |
4: 73,698,583 (GRCm39) |
D26G |
probably benign |
Het |
| Rbfox2 |
A |
T |
15: 77,190,658 (GRCm39) |
V29E |
probably benign |
Het |
| Recql4 |
G |
A |
15: 76,589,685 (GRCm39) |
P787S |
unknown |
Het |
| Rnf19a |
A |
C |
15: 36,253,450 (GRCm39) |
|
probably benign |
Het |
| Rnf214 |
A |
G |
9: 45,811,054 (GRCm39) |
I203T |
probably damaging |
Het |
| Rnmt |
A |
C |
18: 68,451,146 (GRCm39) |
E396D |
probably benign |
Het |
| Scn4a |
G |
A |
11: 106,210,638 (GRCm39) |
S1793L |
probably benign |
Het |
| Sdcbp |
G |
T |
4: 6,386,709 (GRCm39) |
|
probably null |
Het |
| Slfn3 |
A |
G |
11: 83,103,948 (GRCm39) |
N273S |
probably damaging |
Het |
| Slk |
A |
G |
19: 47,603,883 (GRCm39) |
D209G |
|
Het |
| Tent5b |
A |
G |
4: 133,214,352 (GRCm39) |
T408A |
probably damaging |
Het |
| Tmem135 |
T |
A |
7: 88,797,204 (GRCm39) |
M351L |
probably benign |
Het |
| Tmem64 |
A |
G |
4: 15,266,391 (GRCm39) |
H147R |
probably benign |
Het |
| Tnfsf4 |
T |
C |
1: 161,244,629 (GRCm39) |
L106P |
probably damaging |
Het |
| Tonsl |
A |
T |
15: 76,515,270 (GRCm39) |
C1039S |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,864,462 (GRCm39) |
F44I |
possibly damaging |
Het |
| Vmn2r40 |
A |
G |
7: 8,911,172 (GRCm39) |
L707P |
|
Het |
| Vmn2r87 |
G |
A |
10: 130,308,165 (GRCm39) |
T691I |
probably benign |
Het |
| Wbp11 |
A |
T |
6: 136,803,044 (GRCm39) |
S7T |
possibly damaging |
Het |
| Zfp386 |
C |
A |
12: 116,023,878 (GRCm39) |
S532* |
probably null |
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 |
|
R9188:Lrig3
|
UTSW |
10 |
125,838,935 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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'- AGATGACAGCCCTTTGGTGG -3'
(R):5'- TAGCAGCGAATGTCTGTGAAAC -3'
Sequencing Primer
(F):5'- ACAGCCCTTTGGTGGTGACC -3'
(R):5'- TGTCTGTGAAACCCACCG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation