Incidental Mutation 'R6309:Lrrn3'
ID |
509739 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrn3
|
Ensembl Gene |
ENSMUSG00000036295 |
Gene Name |
leucine rich repeat protein 3, neuronal |
Synonyms |
NLRR-3 |
MMRRC Submission |
044413-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
R6309 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
41501667-41536056 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 41503205 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 371
(R371C)
|
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: R371C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043818 Gene: ENSMUSG00000036295 AA Change: R371C
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 |
0.6467 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
92% (35/38) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
A |
G |
5: 105,117,259 (GRCm39) |
|
probably null |
Het |
Ak4 |
T |
C |
4: 101,320,859 (GRCm39) |
Y223H |
probably benign |
Het |
Cerk |
T |
C |
15: 86,040,869 (GRCm39) |
|
probably null |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Col18a1 |
A |
G |
10: 76,948,576 (GRCm39) |
|
probably benign |
Het |
Cpeb3 |
T |
G |
19: 37,022,089 (GRCm39) |
I569L |
possibly damaging |
Het |
Dis3 |
A |
T |
14: 99,323,358 (GRCm39) |
N569K |
probably benign |
Het |
Erich5 |
T |
C |
15: 34,471,602 (GRCm39) |
L277P |
probably benign |
Het |
Fam171b |
T |
C |
2: 83,690,804 (GRCm39) |
S256P |
probably damaging |
Het |
Glis3 |
A |
G |
19: 28,294,761 (GRCm39) |
V679A |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm8212 |
A |
G |
14: 44,438,636 (GRCm39) |
|
probably benign |
Het |
Grin2b |
T |
A |
6: 135,710,025 (GRCm39) |
T1174S |
probably benign |
Het |
Hipk2 |
T |
C |
6: 38,675,446 (GRCm39) |
Y1045C |
probably damaging |
Het |
Hsf2 |
C |
T |
10: 57,362,676 (GRCm39) |
|
probably benign |
Het |
Ighv1-4 |
G |
T |
12: 114,451,015 (GRCm39) |
A31E |
probably benign |
Het |
Il11ra1 |
A |
G |
4: 41,765,279 (GRCm39) |
K151E |
possibly damaging |
Het |
Inpp4b |
T |
A |
8: 82,768,546 (GRCm39) |
M685K |
probably damaging |
Het |
Itga4 |
T |
A |
2: 79,109,429 (GRCm39) |
D209E |
probably damaging |
Het |
L1td1 |
T |
C |
4: 98,625,328 (GRCm39) |
S508P |
probably damaging |
Het |
Nbeal1 |
A |
G |
1: 60,277,878 (GRCm39) |
T755A |
probably benign |
Het |
Odad2 |
A |
G |
18: 7,214,617 (GRCm39) |
V728A |
probably benign |
Het |
Or10al7 |
T |
A |
17: 38,366,043 (GRCm39) |
Y138F |
probably damaging |
Het |
Or2n1 |
T |
C |
17: 38,486,410 (GRCm39) |
V145A |
probably benign |
Het |
Phf24 |
A |
G |
4: 42,933,960 (GRCm39) |
D14G |
probably damaging |
Het |
Prkd1 |
A |
T |
12: 50,441,443 (GRCm39) |
C314* |
probably null |
Het |
Rnf187 |
A |
T |
11: 58,827,986 (GRCm39) |
S155T |
possibly damaging |
Het |
Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
Scn10a |
A |
G |
9: 119,453,181 (GRCm39) |
I1237T |
possibly damaging |
Het |
Sec16a |
T |
C |
2: 26,328,583 (GRCm39) |
N1144S |
probably benign |
Het |
Sh3tc2 |
T |
C |
18: 62,101,081 (GRCm39) |
V58A |
probably damaging |
Het |
Slc37a3 |
T |
C |
6: 39,334,394 (GRCm39) |
*84W |
probably null |
Het |
Trpm2 |
T |
A |
10: 77,774,202 (GRCm39) |
I466F |
probably damaging |
Het |
Vmn2r108 |
T |
A |
17: 20,691,660 (GRCm39) |
I288F |
probably damaging |
Het |
Vmn2r67 |
T |
C |
7: 84,801,124 (GRCm39) |
T271A |
probably benign |
Het |
Vsig10l |
A |
G |
7: 43,120,397 (GRCm39) |
|
probably null |
Het |
Wdr95 |
A |
G |
5: 149,504,268 (GRCm39) |
|
probably null |
Het |
Zfp960 |
T |
C |
17: 17,308,639 (GRCm39) |
I451T |
probably benign |
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 |
R0167:Lrrn3
|
UTSW |
12 |
41,504,014 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- GCTTCTACATCCAGGTCAGAAGG -3'
(R):5'- TCGCTGTGGATAACTTGCCAG -3'
Sequencing Primer
(F):5'- TCCAGGTCAGAAGGAAAGCTCTC -3'
(R):5'- CTGTGGATAACTTGCCAGATTTGAG -3'
|
Posted On |
2018-04-02 |