Incidental Mutation 'R5020:Lrig2'
| ID |
389126 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrig2
|
| Ensembl Gene |
ENSMUSG00000032913 |
| Gene Name |
leucine-rich repeats and immunoglobulin-like domains 2 |
| Synonyms |
4632419I10Rik |
| MMRRC Submission |
042611-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5020 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
104361296-104419251 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104365217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 645
(Q645R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046316]
[ENSMUST00000198332]
[ENSMUST00000199070]
|
| AlphaFold |
Q52KR2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046316
AA Change: Q1010R
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000035999
Gene: ENSMUSG00000032913
AA Change: Q1010R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
|
LRR
|
118 |
141 |
3.56e2 |
SMART |
|
LRR
|
142 |
165 |
1.81e2 |
SMART |
|
LRR
|
167 |
188 |
1.31e0 |
SMART |
|
LRR
|
213 |
236 |
1.41e0 |
SMART |
|
LRR
|
237 |
260 |
4.98e-1 |
SMART |
|
LRR
|
261 |
284 |
1.49e1 |
SMART |
|
LRR
|
285 |
308 |
1.62e0 |
SMART |
|
LRR
|
309 |
332 |
2.14e0 |
SMART |
|
LRR_TYP
|
333 |
356 |
2.2e-2 |
SMART |
|
LRR
|
357 |
383 |
9.22e0 |
SMART |
|
LRR
|
384 |
407 |
2.17e-1 |
SMART |
|
LRR_TYP
|
408 |
431 |
3.95e-4 |
SMART |
|
LRRCT
|
442 |
492 |
3.62e-8 |
SMART |
|
IG
|
503 |
598 |
2.19e-9 |
SMART |
|
IGc2
|
613 |
681 |
1.94e-10 |
SMART |
|
IGc2
|
707 |
772 |
3.2e-11 |
SMART |
|
transmembrane domain
|
805 |
827 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197018
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198332
AA Change: Q1003R
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000142540
Gene: ENSMUSG00000032913
AA Change: Q1003R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
|
LRR
|
118 |
141 |
3.56e2 |
SMART |
|
LRR
|
142 |
165 |
1.81e2 |
SMART |
|
LRR
|
167 |
188 |
1.31e0 |
SMART |
|
LRR
|
213 |
236 |
1.41e0 |
SMART |
|
LRR
|
237 |
260 |
4.98e-1 |
SMART |
|
LRR
|
261 |
284 |
1.49e1 |
SMART |
|
LRR
|
285 |
308 |
1.62e0 |
SMART |
|
LRR
|
309 |
332 |
2.14e0 |
SMART |
|
LRR_TYP
|
333 |
356 |
2.2e-2 |
SMART |
|
LRR
|
357 |
383 |
9.22e0 |
SMART |
|
LRR
|
384 |
407 |
2.17e-1 |
SMART |
|
LRR_TYP
|
408 |
431 |
3.95e-4 |
SMART |
|
LRRCT
|
442 |
492 |
3.62e-8 |
SMART |
|
IG
|
503 |
598 |
2.19e-9 |
SMART |
|
IGc2
|
613 |
681 |
1.94e-10 |
SMART |
|
IGc2
|
707 |
772 |
3.2e-11 |
SMART |
|
transmembrane domain
|
805 |
827 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199070
AA Change: Q645R
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142373
Gene: ENSMUSG00000032913
AA Change: Q645R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
LRRCT
|
84 |
134 |
1.8e-10 |
SMART |
|
IG
|
145 |
240 |
9.2e-12 |
SMART |
|
IGc2
|
255 |
323 |
8.1e-13 |
SMART |
|
IGc2
|
349 |
414 |
1.3e-13 |
SMART |
|
transmembrane domain
|
447 |
469 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199180
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200453
|
| Meta Mutation Damage Score |
0.0621 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
99% (72/73) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein containing leucine-rich repeats and immunoglobulin-like domains. The encoded protein promotes epidermal growth factor signalling, resulting in increased proliferation. Its expression in the cytoplasm of glioma cells is correlated with poor survival. Mutations in this gene can cause urofacial syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced susceptibility to PDGFB-induced glioma and premature death due to illness with reduced body weight, letahrgy, hackled fur, crouched posture and increased inflammatory response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
A |
T |
7: 131,042,929 (GRCm39) |
|
probably null |
Het |
| Actl6a |
A |
G |
3: 32,774,656 (GRCm39) |
I340V |
possibly damaging |
Het |
| Alppl2 |
C |
T |
1: 87,017,431 (GRCm39) |
V19I |
probably benign |
Het |
| Ankrd34c |
T |
C |
9: 89,611,759 (GRCm39) |
K194R |
probably benign |
Het |
| Anpep |
T |
A |
7: 79,483,475 (GRCm39) |
M672L |
probably benign |
Het |
| Arhgap31 |
T |
C |
16: 38,423,438 (GRCm39) |
D876G |
probably damaging |
Het |
| Arid2 |
T |
A |
15: 96,269,869 (GRCm39) |
N1327K |
probably damaging |
Het |
| Atp5f1d |
C |
A |
10: 79,981,263 (GRCm39) |
P101Q |
probably benign |
Het |
| Bcl7b |
G |
A |
5: 135,200,017 (GRCm39) |
|
probably null |
Het |
| Brca2 |
A |
T |
5: 150,483,901 (GRCm39) |
S2907C |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,662,134 (GRCm39) |
E350G |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,143,811 (GRCm39) |
D2929E |
probably damaging |
Het |
| Clec2i |
T |
A |
6: 128,870,621 (GRCm39) |
V78E |
probably benign |
Het |
| Cpxm1 |
A |
T |
2: 130,237,897 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
C |
T |
16: 59,375,159 (GRCm39) |
V2032I |
possibly damaging |
Het |
| Eif5b |
A |
T |
1: 38,058,150 (GRCm39) |
K151* |
probably null |
Het |
| Gemin7 |
T |
A |
7: 19,299,348 (GRCm39) |
E82D |
possibly damaging |
Het |
| Gm14496 |
A |
G |
2: 181,633,152 (GRCm39) |
E45G |
possibly damaging |
Het |
| Gm21915 |
T |
C |
9: 40,581,966 (GRCm39) |
S20P |
probably damaging |
Het |
| Gm8126 |
A |
C |
14: 43,119,026 (GRCm39) |
E165A |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,405 (GRCm39) |
D1047G |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Ikbke |
T |
A |
1: 131,201,397 (GRCm39) |
Y150F |
probably damaging |
Het |
| Inhca |
T |
C |
9: 103,159,701 (GRCm39) |
D70G |
probably benign |
Het |
| Itih5 |
T |
A |
2: 10,245,315 (GRCm39) |
|
probably null |
Het |
| Map4 |
A |
G |
9: 109,897,868 (GRCm39) |
M712V |
probably benign |
Het |
| Mecom |
A |
G |
3: 30,015,255 (GRCm39) |
S823P |
probably damaging |
Het |
| Mettl25 |
A |
G |
10: 105,662,068 (GRCm39) |
Y301H |
possibly damaging |
Het |
| Mga |
A |
T |
2: 119,781,654 (GRCm39) |
K2136* |
probably null |
Het |
| Mmp24 |
A |
G |
2: 155,652,204 (GRCm39) |
E304G |
probably benign |
Het |
| Mmp3 |
T |
A |
9: 7,445,984 (GRCm39) |
D29E |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,424,713 (GRCm39) |
I984N |
probably damaging |
Het |
| Nedd9 |
A |
G |
13: 41,469,270 (GRCm39) |
Y628H |
probably damaging |
Het |
| Nlrp2 |
C |
T |
7: 5,331,076 (GRCm39) |
C440Y |
probably damaging |
Het |
| Or4g16 |
T |
C |
2: 111,136,637 (GRCm39) |
V29A |
probably benign |
Het |
| Or6p1 |
T |
G |
1: 174,258,237 (GRCm39) |
L81R |
probably damaging |
Het |
| P4ha2 |
T |
C |
11: 54,022,016 (GRCm39) |
V513A |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,161,869 (GRCm39) |
N124S |
probably benign |
Het |
| Phf12 |
T |
C |
11: 77,914,622 (GRCm39) |
F139S |
probably damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,666,714 (GRCm39) |
L1081H |
probably damaging |
Het |
| Phospho2 |
T |
A |
2: 69,626,323 (GRCm39) |
F160I |
probably damaging |
Het |
| Plch2 |
T |
G |
4: 155,091,540 (GRCm39) |
D115A |
probably damaging |
Het |
| Plekho1 |
A |
G |
3: 95,896,851 (GRCm39) |
F215S |
probably damaging |
Het |
| Psma4 |
C |
A |
9: 54,860,056 (GRCm39) |
A47E |
probably damaging |
Het |
| Rasa4 |
A |
C |
5: 136,130,153 (GRCm39) |
Q303P |
probably damaging |
Het |
| Rbmxl2 |
C |
T |
7: 106,809,414 (GRCm39) |
P233L |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,239,636 (GRCm39) |
L877H |
probably damaging |
Het |
| Rtel1 |
A |
G |
2: 180,964,307 (GRCm39) |
|
probably null |
Het |
| Septin12 |
T |
C |
16: 4,811,620 (GRCm39) |
D116G |
probably damaging |
Het |
| Son |
T |
A |
16: 91,453,263 (GRCm39) |
V670E |
probably damaging |
Het |
| Spag9 |
T |
A |
11: 93,988,612 (GRCm39) |
I544N |
probably benign |
Het |
| Spsb3 |
T |
G |
17: 25,106,036 (GRCm39) |
|
probably benign |
Het |
| Tcstv2c |
T |
C |
13: 120,616,652 (GRCm39) |
F164L |
possibly damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,362,836 (GRCm39) |
T59A |
probably damaging |
Het |
| Tsc1 |
T |
A |
2: 28,566,531 (GRCm39) |
I649K |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 38,034,793 (GRCm39) |
D37G |
probably benign |
Het |
| Uba7 |
C |
T |
9: 107,856,113 (GRCm39) |
A496V |
probably benign |
Het |
| Usf3 |
T |
A |
16: 44,035,889 (GRCm39) |
I123N |
probably damaging |
Het |
| Vmn1r184 |
T |
A |
7: 25,966,955 (GRCm39) |
S234T |
possibly damaging |
Het |
| Vsig10l |
C |
A |
7: 43,114,741 (GRCm39) |
S314* |
probably null |
Het |
| Wdfy4 |
A |
G |
14: 32,801,892 (GRCm39) |
F1922S |
probably damaging |
Het |
| Zfp219 |
C |
T |
14: 52,247,112 (GRCm39) |
R5H |
probably damaging |
Het |
| Zfp946 |
G |
T |
17: 22,674,584 (GRCm39) |
C446F |
probably benign |
Het |
|
| Other mutations in Lrig2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00657:Lrig2
|
APN |
3 |
104,374,487 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00715:Lrig2
|
APN |
3 |
104,371,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01105:Lrig2
|
APN |
3 |
104,371,484 (GRCm39) |
nonsense |
probably null |
|
|
IGL01767:Lrig2
|
APN |
3 |
104,398,861 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02080:Lrig2
|
APN |
3 |
104,371,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02088:Lrig2
|
APN |
3 |
104,374,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02967:Lrig2
|
APN |
3 |
104,401,512 (GRCm39) |
intron |
probably benign |
|
|
IGL03024:Lrig2
|
APN |
3 |
104,401,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03079:Lrig2
|
APN |
3 |
104,398,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03085:Lrig2
|
APN |
3 |
104,374,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03162:Lrig2
|
APN |
3 |
104,371,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Belladonna
|
UTSW |
3 |
104,374,682 (GRCm39) |
splice site |
probably benign |
|
|
R0414:Lrig2
|
UTSW |
3 |
104,401,372 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0866:Lrig2
|
UTSW |
3 |
104,371,591 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1184:Lrig2
|
UTSW |
3 |
104,398,227 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1524:Lrig2
|
UTSW |
3 |
104,371,192 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1606:Lrig2
|
UTSW |
3 |
104,387,423 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1672:Lrig2
|
UTSW |
3 |
104,399,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1701:Lrig2
|
UTSW |
3 |
104,401,993 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1778:Lrig2
|
UTSW |
3 |
104,374,682 (GRCm39) |
splice site |
probably benign |
|
|
R2034:Lrig2
|
UTSW |
3 |
104,401,408 (GRCm39) |
missense |
probably benign |
|
|
R2100:Lrig2
|
UTSW |
3 |
104,418,946 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2186:Lrig2
|
UTSW |
3 |
104,375,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3778:Lrig2
|
UTSW |
3 |
104,365,277 (GRCm39) |
missense |
probably benign |
|
|
R3977:Lrig2
|
UTSW |
3 |
104,365,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4119:Lrig2
|
UTSW |
3 |
104,374,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4210:Lrig2
|
UTSW |
3 |
104,374,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4612:Lrig2
|
UTSW |
3 |
104,370,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4872:Lrig2
|
UTSW |
3 |
104,398,842 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5499:Lrig2
|
UTSW |
3 |
104,368,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5687:Lrig2
|
UTSW |
3 |
104,371,388 (GRCm39) |
splice site |
probably null |
|
|
R5718:Lrig2
|
UTSW |
3 |
104,375,931 (GRCm39) |
nonsense |
probably null |
|
|
R5886:Lrig2
|
UTSW |
3 |
104,370,014 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5921:Lrig2
|
UTSW |
3 |
104,370,070 (GRCm39) |
nonsense |
probably null |
|
|
R6434:Lrig2
|
UTSW |
3 |
104,398,863 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6468:Lrig2
|
UTSW |
3 |
104,374,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6513:Lrig2
|
UTSW |
3 |
104,373,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6675:Lrig2
|
UTSW |
3 |
104,365,251 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7243:Lrig2
|
UTSW |
3 |
104,404,883 (GRCm39) |
splice site |
probably null |
|
|
R7395:Lrig2
|
UTSW |
3 |
104,404,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7444:Lrig2
|
UTSW |
3 |
104,404,829 (GRCm39) |
nonsense |
probably null |
|
|
R7514:Lrig2
|
UTSW |
3 |
104,373,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Lrig2
|
UTSW |
3 |
104,401,985 (GRCm39) |
nonsense |
probably null |
|
|
R8720:Lrig2
|
UTSW |
3 |
104,418,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8809:Lrig2
|
UTSW |
3 |
104,368,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9019:Lrig2
|
UTSW |
3 |
104,368,914 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9204:Lrig2
|
UTSW |
3 |
104,387,438 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9215:Lrig2
|
UTSW |
3 |
104,398,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9549:Lrig2
|
UTSW |
3 |
104,398,191 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9562:Lrig2
|
UTSW |
3 |
104,375,924 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9664:Lrig2
|
UTSW |
3 |
104,371,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9773:Lrig2
|
UTSW |
3 |
104,368,838 (GRCm39) |
missense |
probably benign |
0.27 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTAACTTGAGTCTTTGCTCAGAC -3'
(R):5'- TCTTTATCAAGGATGCTGGGC -3'
Sequencing Primer
(F):5'- AGACTTCCTCCTCAACGGG -3'
(R):5'- AGTTCCATGAGATCCAGTGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation