Incidental Mutation 'R1433:Lrrn3'
ID |
159330 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrn3
|
Ensembl Gene |
ENSMUSG00000036295 |
Gene Name |
leucine rich repeat protein 3, neuronal |
Synonyms |
NLRR-3 |
MMRRC Submission |
039488-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.136)
|
Stock # |
R1433 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
41501667-41536056 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 41502583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 578
(Y578F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043818
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043884]
[ENSMUST00000132121]
[ENSMUST00000134965]
|
AlphaFold |
Q8CBC6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043884
AA Change: Y578F
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000043818 Gene: ENSMUSG00000036295 AA Change: Y578F
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 |
0.1290 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 87.9%
|
Validation Efficiency |
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp1 |
C |
T |
12: 30,945,934 (GRCm39) |
E140K |
possibly damaging |
Het |
Acsm4 |
T |
A |
7: 119,293,042 (GRCm39) |
D57E |
probably damaging |
Het |
Adamts9 |
A |
G |
6: 92,826,271 (GRCm39) |
|
probably null |
Het |
Aen |
T |
A |
7: 78,557,060 (GRCm39) |
Y303N |
probably damaging |
Het |
Alcam |
T |
C |
16: 52,116,115 (GRCm39) |
|
probably null |
Het |
Apol7b |
A |
G |
15: 77,309,746 (GRCm39) |
L17P |
probably damaging |
Het |
Cacna1c |
A |
T |
6: 118,629,754 (GRCm39) |
Y1058* |
probably null |
Het |
Camk2d |
T |
C |
3: 126,601,873 (GRCm39) |
V354A |
probably benign |
Het |
Carf |
T |
G |
1: 60,164,017 (GRCm39) |
M43R |
probably damaging |
Het |
Casp8 |
T |
A |
1: 58,863,283 (GRCm39) |
F81Y |
probably damaging |
Het |
Cd74 |
G |
A |
18: 60,937,064 (GRCm39) |
R20H |
probably benign |
Het |
Cers5 |
A |
T |
15: 99,643,812 (GRCm39) |
Y16* |
probably null |
Het |
Chuk |
A |
T |
19: 44,067,397 (GRCm39) |
M586K |
probably null |
Het |
D130043K22Rik |
C |
A |
13: 25,055,324 (GRCm39) |
P496Q |
probably damaging |
Het |
Dab2 |
A |
G |
15: 6,459,419 (GRCm39) |
R311G |
probably damaging |
Het |
Depp1 |
A |
T |
6: 116,629,223 (GRCm39) |
S189C |
possibly damaging |
Het |
Diaph1 |
A |
T |
18: 38,038,187 (GRCm39) |
I48N |
unknown |
Het |
Dnajc13 |
T |
C |
9: 104,057,320 (GRCm39) |
D1560G |
probably damaging |
Het |
Dsg2 |
T |
C |
18: 20,715,780 (GRCm39) |
S241P |
probably damaging |
Het |
Efcab5 |
T |
C |
11: 76,996,204 (GRCm39) |
D1119G |
probably benign |
Het |
Efr3a |
G |
T |
15: 65,740,906 (GRCm39) |
|
probably benign |
Het |
Evc2 |
A |
G |
5: 37,550,427 (GRCm39) |
K814E |
probably damaging |
Het |
Hic2 |
A |
G |
16: 17,076,686 (GRCm39) |
D505G |
probably benign |
Het |
Ing1 |
T |
A |
8: 11,607,010 (GRCm39) |
V34D |
probably damaging |
Het |
Inpp5k |
A |
G |
11: 75,528,317 (GRCm39) |
M172V |
probably benign |
Het |
Itgae |
T |
C |
11: 73,006,418 (GRCm39) |
V362A |
probably damaging |
Het |
Lama2 |
T |
A |
10: 27,063,750 (GRCm39) |
R1346S |
probably damaging |
Het |
Lrrc7 |
T |
C |
3: 157,882,943 (GRCm39) |
N450S |
probably damaging |
Het |
Maml2 |
A |
T |
9: 13,617,797 (GRCm39) |
N381I |
probably damaging |
Het |
Mettl15 |
T |
G |
2: 108,923,266 (GRCm39) |
E385D |
probably benign |
Het |
Mthfr |
T |
A |
4: 148,139,900 (GRCm39) |
I623N |
possibly damaging |
Het |
Muc4 |
A |
C |
16: 32,574,448 (GRCm39) |
N966T |
probably benign |
Het |
Myoc |
A |
G |
1: 162,476,565 (GRCm39) |
Y423C |
probably damaging |
Het |
Ncoa2 |
A |
T |
1: 13,218,602 (GRCm39) |
M1409K |
probably benign |
Het |
Ncor2 |
T |
C |
5: 125,187,039 (GRCm39) |
|
probably benign |
Het |
Numb |
T |
C |
12: 83,844,033 (GRCm39) |
E395G |
probably damaging |
Het |
Oas1g |
A |
G |
5: 121,020,012 (GRCm39) |
F198S |
probably damaging |
Het |
Or2b28 |
T |
C |
13: 21,531,194 (GRCm39) |
V32A |
probably benign |
Het |
Or5k17 |
A |
G |
16: 58,746,049 (GRCm39) |
V295A |
probably benign |
Het |
Prdm13 |
T |
A |
4: 21,678,909 (GRCm39) |
Y527F |
probably damaging |
Het |
Prr14l |
A |
G |
5: 32,986,177 (GRCm39) |
L1106P |
probably damaging |
Het |
Ptbp1 |
T |
A |
10: 79,699,107 (GRCm39) |
I555N |
probably damaging |
Het |
Ptchd4 |
A |
T |
17: 42,814,606 (GRCm39) |
T836S |
possibly damaging |
Het |
Rlbp1 |
T |
C |
7: 79,033,686 (GRCm39) |
D3G |
probably benign |
Het |
Sdk2 |
T |
C |
11: 113,685,871 (GRCm39) |
E1883G |
probably damaging |
Het |
Serpinc1 |
A |
T |
1: 160,820,974 (GRCm39) |
K140N |
probably damaging |
Het |
Serpind1 |
A |
T |
16: 17,160,249 (GRCm39) |
Y382F |
probably damaging |
Het |
Slc28a3 |
T |
C |
13: 58,710,920 (GRCm39) |
E534G |
probably damaging |
Het |
Slco1a7 |
A |
G |
6: 141,711,429 (GRCm39) |
M94T |
probably benign |
Het |
Ttyh2 |
T |
A |
11: 114,601,005 (GRCm39) |
I418N |
probably benign |
Het |
Tubgcp4 |
C |
T |
2: 121,005,905 (GRCm39) |
Q98* |
probably null |
Het |
Ugt2a2 |
A |
G |
5: 87,611,965 (GRCm39) |
L315P |
probably damaging |
Het |
Vwa1 |
A |
T |
4: 155,857,358 (GRCm39) |
S147T |
probably damaging |
Het |
Xylt1 |
T |
C |
7: 117,191,179 (GRCm39) |
V325A |
possibly damaging |
Het |
Zfp335 |
T |
C |
2: 164,741,376 (GRCm39) |
H685R |
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 |
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 |
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'- TTCAGAAAGTGACATTCCCCTGCC -3'
(R):5'- CAAAGTGGGAGGTTCTGTTCCTCAG -3'
Sequencing Primer
(F):5'- CTTGTGACAGTGATTCACAGC -3'
(R):5'- CTGTTCCTCAGGATAATAATGGGTC -3'
|
Posted On |
2014-03-14 |