Incidental Mutation 'R0167:Lrrn3'
| ID |
24237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrn3
|
| Ensembl Gene |
ENSMUSG00000036295 |
| Gene Name |
leucine rich repeat protein 3, neuronal |
| Synonyms |
NLRR-3 |
| MMRRC Submission |
038443-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R0167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
12 |
| Chromosomal Location |
41501667-41536056 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41504014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 101
(Q101L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043818
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043884]
[ENSMUST00000132121]
[ENSMUST00000134965]
|
| AlphaFold |
Q8CBC6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043884
AA Change: Q101L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043818
Gene: ENSMUSG00000036295
AA Change: Q101L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
LRRNT
|
28 |
73 |
9.17e-4 |
SMART |
|
LRR
|
115 |
138 |
2.63e0 |
SMART |
|
LRR_TYP
|
139 |
162 |
1.5e-4 |
SMART |
|
LRR
|
163 |
186 |
7.55e-1 |
SMART |
|
LRR
|
187 |
210 |
1.76e1 |
SMART |
|
LRR
|
211 |
234 |
1.62e1 |
SMART |
|
LRR
|
235 |
258 |
5.11e0 |
SMART |
|
LRR
|
260 |
282 |
3.18e1 |
SMART |
|
LRR
|
333 |
356 |
4.44e0 |
SMART |
|
LRRCT
|
368 |
420 |
3.7e-5 |
SMART |
|
IGc2
|
435 |
503 |
5.04e-9 |
SMART |
|
FN3
|
521 |
602 |
3.49e0 |
SMART |
|
transmembrane domain
|
626 |
648 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132121
|
| SMART Domains |
Protein: ENSMUSP00000118779
Gene: ENSMUSG00000056899
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_S24
|
38 |
115 |
7.7e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134965
|
| SMART Domains |
Protein: ENSMUSP00000116441
Gene: ENSMUSG00000056899
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_S24
|
38 |
114 |
6.4e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.4781 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.7%
|
| Validation Efficiency |
95% (58/61) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mutant mice exhibited increased mean percent body fat and male homozygous mutant mice exhibited enhanced glucose tolerance when compared with controls. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
T |
C |
9: 107,806,969 (GRCm39) |
F431L |
probably damaging |
Het |
| Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
| Bltp3a |
C |
T |
17: 28,099,176 (GRCm39) |
T246M |
possibly damaging |
Het |
| Bsn |
T |
C |
9: 108,003,185 (GRCm39) |
T407A |
probably benign |
Het |
| Ccdc96 |
T |
C |
5: 36,642,497 (GRCm39) |
F168L |
probably benign |
Het |
| Cckar |
A |
T |
5: 53,863,795 (GRCm39) |
S55R |
probably damaging |
Het |
| Cdh5 |
A |
C |
8: 104,863,367 (GRCm39) |
I426L |
possibly damaging |
Het |
| Clcn1 |
T |
C |
6: 42,263,770 (GRCm39) |
Y24H |
probably damaging |
Het |
| Clpx |
G |
A |
9: 65,224,019 (GRCm39) |
R271K |
possibly damaging |
Het |
| Col6a3 |
C |
T |
1: 90,725,895 (GRCm39) |
G1978D |
probably damaging |
Het |
| Cpne2 |
T |
C |
8: 95,295,207 (GRCm39) |
|
probably benign |
Het |
| D630023F18Rik |
A |
G |
1: 65,156,340 (GRCm39) |
V51A |
possibly damaging |
Het |
| Dcaf4 |
G |
A |
12: 83,582,762 (GRCm39) |
|
probably benign |
Het |
| Dlk2 |
C |
A |
17: 46,613,530 (GRCm39) |
R262S |
possibly damaging |
Het |
| Dubr |
G |
T |
16: 50,553,007 (GRCm39) |
|
noncoding transcript |
Het |
| Elane |
T |
A |
10: 79,722,933 (GRCm39) |
|
probably null |
Het |
| Eya2 |
T |
G |
2: 165,558,032 (GRCm39) |
S209R |
possibly damaging |
Het |
| Fam171a1 |
C |
T |
2: 3,187,469 (GRCm39) |
S112L |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,811,151 (GRCm39) |
M2490K |
possibly damaging |
Het |
| Galnt14 |
T |
C |
17: 73,829,715 (GRCm39) |
T277A |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,937,660 (GRCm39) |
N128S |
probably benign |
Het |
| H1f6 |
T |
C |
13: 23,879,886 (GRCm39) |
V13A |
probably benign |
Het |
| Hdac2 |
T |
C |
10: 36,876,368 (GRCm39) |
V461A |
probably benign |
Het |
| Hey2 |
A |
G |
10: 30,716,661 (GRCm39) |
V34A |
probably benign |
Het |
| Ift22 |
T |
C |
5: 136,940,745 (GRCm39) |
C137R |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,256,002 (GRCm39) |
D4657G |
possibly damaging |
Het |
| Med25 |
A |
G |
7: 44,532,521 (GRCm39) |
|
probably null |
Het |
| Mup5 |
T |
A |
4: 61,752,019 (GRCm39) |
|
probably null |
Het |
| Or51aa5 |
A |
T |
7: 103,166,708 (GRCm39) |
Y294* |
probably null |
Het |
| Or5ac23 |
A |
T |
16: 59,149,337 (GRCm39) |
C178* |
probably null |
Het |
| Or9q2 |
T |
C |
19: 13,772,931 (GRCm39) |
T15A |
probably benign |
Het |
| Otog |
G |
A |
7: 45,953,655 (GRCm39) |
V2638M |
probably damaging |
Het |
| Parg |
T |
C |
14: 31,939,693 (GRCm39) |
|
probably null |
Het |
| Prep |
A |
G |
10: 45,034,326 (GRCm39) |
|
probably null |
Het |
| Prss1l |
T |
A |
6: 41,373,195 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,385,055 (GRCm39) |
|
probably null |
Het |
| Rbbp8 |
T |
A |
18: 11,793,979 (GRCm39) |
Y30* |
probably null |
Het |
| Rhbdd1 |
T |
C |
1: 82,320,505 (GRCm39) |
V163A |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,402,850 (GRCm39) |
N1830K |
probably damaging |
Het |
| Shc4 |
T |
G |
2: 125,564,933 (GRCm39) |
N122T |
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,096,254 (GRCm39) |
|
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,289,469 (GRCm39) |
L261Q |
probably damaging |
Het |
| St8sia1 |
A |
G |
6: 142,859,907 (GRCm39) |
|
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,887,787 (GRCm39) |
|
probably benign |
Het |
| Tpp2 |
T |
C |
1: 44,009,648 (GRCm39) |
V494A |
probably benign |
Het |
| Trdmt1 |
A |
T |
2: 13,520,829 (GRCm39) |
F358I |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,719,867 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,209,278 (GRCm39) |
|
probably null |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vstm2a |
T |
A |
11: 16,208,044 (GRCm39) |
F13I |
probably damaging |
Het |
| Zfp804a |
T |
G |
2: 82,086,860 (GRCm39) |
F230V |
probably damaging |
Het |
|
| Other mutations in Lrrn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Lrrn3
|
APN |
12 |
41,502,191 (GRCm39) |
intron |
probably benign |
|
|
IGL02825:Lrrn3
|
APN |
12 |
41,502,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02927:Lrrn3
|
APN |
12 |
41,503,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02970:Lrrn3
|
APN |
12 |
41,502,359 (GRCm39) |
missense |
probably benign |
|
|
IGL02995:Lrrn3
|
APN |
12 |
41,502,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02999:Lrrn3
|
APN |
12 |
41,502,750 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03182:Lrrn3
|
APN |
12 |
41,504,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03280:Lrrn3
|
APN |
12 |
41,504,146 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4469001:Lrrn3
|
UTSW |
12 |
41,503,017 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0414:Lrrn3
|
UTSW |
12 |
41,503,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0787:Lrrn3
|
UTSW |
12 |
41,504,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0894:Lrrn3
|
UTSW |
12 |
41,504,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1433:Lrrn3
|
UTSW |
12 |
41,502,583 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1610:Lrrn3
|
UTSW |
12 |
41,502,992 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1834:Lrrn3
|
UTSW |
12 |
41,503,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2068:Lrrn3
|
UTSW |
12 |
41,502,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Lrrn3
|
UTSW |
12 |
41,502,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2871:Lrrn3
|
UTSW |
12 |
41,502,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3771:Lrrn3
|
UTSW |
12 |
41,502,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4408:Lrrn3
|
UTSW |
12 |
41,504,041 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4410:Lrrn3
|
UTSW |
12 |
41,502,583 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4684:Lrrn3
|
UTSW |
12 |
41,504,243 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4770:Lrrn3
|
UTSW |
12 |
41,502,442 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4927:Lrrn3
|
UTSW |
12 |
41,503,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5037:Lrrn3
|
UTSW |
12 |
41,503,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5482:Lrrn3
|
UTSW |
12 |
41,502,387 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5482:Lrrn3
|
UTSW |
12 |
41,502,386 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5667:Lrrn3
|
UTSW |
12 |
41,502,297 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6022:Lrrn3
|
UTSW |
12 |
41,503,429 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6087:Lrrn3
|
UTSW |
12 |
41,503,534 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6129:Lrrn3
|
UTSW |
12 |
41,503,787 (GRCm39) |
nonsense |
probably null |
|
|
R6309:Lrrn3
|
UTSW |
12 |
41,503,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7449:Lrrn3
|
UTSW |
12 |
41,503,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7555:Lrrn3
|
UTSW |
12 |
41,502,910 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7560:Lrrn3
|
UTSW |
12 |
41,502,712 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8059:Lrrn3
|
UTSW |
12 |
41,504,216 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8134:Lrrn3
|
UTSW |
12 |
41,503,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8798:Lrrn3
|
UTSW |
12 |
41,503,174 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9308:Lrrn3
|
UTSW |
12 |
41,503,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9318:Lrrn3
|
UTSW |
12 |
41,503,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTGTCCCCAAGCATCAGAATCTC -3'
(R):5'- GCTAAGATGAAGGACACGCCACTC -3'
Sequencing Primer
(F):5'- TTATGTAGGCCAATGAAGGCTCC -3'
(R):5'- AGTGGATTGCCCCCAATTATG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation