Incidental Mutation 'R5736:Lrrn1'
ID |
451699 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrn1
|
Ensembl Gene |
ENSMUSG00000034648 |
Gene Name |
leucine rich repeat protein 1, neuronal |
Synonyms |
2810047E21Rik, NLRR-1 |
MMRRC Submission |
043194-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.339)
|
Stock # |
R5736 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
107506729-107547175 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107544345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 48
(S48P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037096
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049285]
|
AlphaFold |
Q61809 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049285
AA Change: S48P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000037096 Gene: ENSMUSG00000034648 AA Change: S48P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
LRRNT
|
31 |
76 |
2.89e-1 |
SMART |
LRR
|
94 |
117 |
1.06e1 |
SMART |
LRR
|
118 |
141 |
1.89e-1 |
SMART |
LRR_TYP
|
142 |
165 |
4.3e-5 |
SMART |
LRR
|
166 |
189 |
1.76e-1 |
SMART |
LRR
|
214 |
237 |
4.09e1 |
SMART |
LRR
|
238 |
261 |
1.53e1 |
SMART |
LRR
|
262 |
285 |
2.63e0 |
SMART |
LRR
|
311 |
335 |
1.45e2 |
SMART |
LRR
|
336 |
359 |
4.21e1 |
SMART |
LRRCT
|
371 |
423 |
2.14e-10 |
SMART |
IGc2
|
438 |
506 |
6.34e-15 |
SMART |
FN3
|
523 |
605 |
8.71e-2 |
SMART |
transmembrane domain
|
631 |
653 |
N/A |
INTRINSIC |
low complexity region
|
690 |
701 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.5%
- 20x: 93.8%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mutant mice exhibited decreased exploratory activity and the female mutants exhibited an increased anxiety-like response during open field testing. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630095N17Rik |
G |
A |
1: 75,197,211 (GRCm39) |
|
probably benign |
Het |
Akt1 |
G |
A |
12: 112,623,284 (GRCm39) |
R367C |
probably benign |
Het |
Arl8a |
T |
A |
1: 135,082,458 (GRCm39) |
S150T |
probably benign |
Het |
B020004C17Rik |
A |
T |
14: 57,254,823 (GRCm39) |
T216S |
possibly damaging |
Het |
Casz1 |
G |
A |
4: 149,013,867 (GRCm39) |
V144I |
probably benign |
Het |
Cd274 |
G |
T |
19: 29,359,940 (GRCm39) |
L248F |
probably benign |
Het |
Crisp4 |
T |
C |
1: 18,185,939 (GRCm39) |
T266A |
probably benign |
Het |
Dlx6 |
A |
T |
6: 6,863,660 (GRCm39) |
H94L |
probably damaging |
Het |
Exoc1 |
A |
G |
5: 76,685,615 (GRCm39) |
N109S |
possibly damaging |
Het |
Grik2 |
T |
C |
10: 49,280,506 (GRCm39) |
E128G |
probably damaging |
Het |
Hs3st4 |
G |
A |
7: 123,996,662 (GRCm39) |
E443K |
probably damaging |
Het |
Ihh |
T |
C |
1: 74,985,286 (GRCm39) |
T400A |
probably benign |
Het |
Lamb1 |
T |
A |
12: 31,352,664 (GRCm39) |
C806* |
probably null |
Het |
Lsm11 |
T |
C |
11: 45,835,594 (GRCm39) |
N49S |
possibly damaging |
Het |
Map3k11 |
C |
T |
19: 5,746,739 (GRCm39) |
A507V |
probably damaging |
Het |
Mill2 |
A |
T |
7: 18,592,174 (GRCm39) |
Q265L |
probably benign |
Het |
Odad2 |
T |
C |
18: 7,268,416 (GRCm39) |
T368A |
probably benign |
Het |
Or4s2b |
T |
C |
2: 88,508,985 (GRCm39) |
M255T |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Peg10 |
T |
A |
6: 4,754,423 (GRCm39) |
L68Q |
probably benign |
Het |
Phka2 |
ACC |
AC |
X: 159,342,862 (GRCm39) |
|
probably null |
Het |
Prkag2 |
A |
T |
5: 25,083,720 (GRCm39) |
Y88N |
probably damaging |
Het |
Prmt5 |
A |
C |
14: 54,752,297 (GRCm39) |
D166E |
probably null |
Het |
Robo4 |
A |
T |
9: 37,316,093 (GRCm39) |
T366S |
possibly damaging |
Het |
Samd3 |
T |
C |
10: 26,146,070 (GRCm39) |
I365T |
probably damaging |
Het |
Sdf2l1 |
A |
T |
16: 16,949,571 (GRCm39) |
C92S |
probably damaging |
Het |
Serpinb6e |
A |
G |
13: 34,016,753 (GRCm39) |
F327L |
probably damaging |
Het |
Slc17a6 |
G |
A |
7: 51,294,841 (GRCm39) |
V183I |
possibly damaging |
Het |
Slc6a11 |
T |
C |
6: 114,139,123 (GRCm39) |
S244P |
probably damaging |
Het |
Slc6a5 |
A |
G |
7: 49,609,102 (GRCm39) |
D769G |
probably benign |
Het |
Slc7a14 |
A |
T |
3: 31,278,059 (GRCm39) |
D515E |
probably benign |
Het |
Slco2a1 |
A |
T |
9: 102,945,029 (GRCm39) |
S135C |
probably benign |
Het |
Spidr |
A |
T |
16: 15,715,162 (GRCm39) |
D801E |
probably damaging |
Het |
Spta1 |
T |
C |
1: 174,041,821 (GRCm39) |
|
probably null |
Het |
Tmem71 |
C |
T |
15: 66,404,496 (GRCm39) |
V264I |
probably benign |
Het |
Zfp563 |
G |
T |
17: 33,323,960 (GRCm39) |
R185L |
possibly damaging |
Het |
Zfp941 |
G |
A |
7: 140,392,973 (GRCm39) |
P129S |
probably benign |
Het |
|
Other mutations in Lrrn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00834:Lrrn1
|
APN |
6 |
107,545,269 (GRCm39) |
missense |
probably benign |
0.06 |
IGL00949:Lrrn1
|
APN |
6 |
107,546,261 (GRCm39) |
missense |
probably benign |
0.15 |
IGL01594:Lrrn1
|
APN |
6 |
107,544,454 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02814:Lrrn1
|
APN |
6 |
107,544,313 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02824:Lrrn1
|
APN |
6 |
107,545,495 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02931:Lrrn1
|
APN |
6 |
107,544,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R0399:Lrrn1
|
UTSW |
6 |
107,546,081 (GRCm39) |
missense |
probably benign |
|
R1109:Lrrn1
|
UTSW |
6 |
107,544,225 (GRCm39) |
missense |
probably benign |
|
R1620:Lrrn1
|
UTSW |
6 |
107,545,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R1826:Lrrn1
|
UTSW |
6 |
107,544,529 (GRCm39) |
missense |
probably benign |
0.05 |
R1893:Lrrn1
|
UTSW |
6 |
107,545,083 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2327:Lrrn1
|
UTSW |
6 |
107,545,794 (GRCm39) |
missense |
probably benign |
0.05 |
R3684:Lrrn1
|
UTSW |
6 |
107,544,910 (GRCm39) |
missense |
probably benign |
0.13 |
R3757:Lrrn1
|
UTSW |
6 |
107,546,169 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4538:Lrrn1
|
UTSW |
6 |
107,545,598 (GRCm39) |
missense |
probably benign |
0.21 |
R4922:Lrrn1
|
UTSW |
6 |
107,545,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R4946:Lrrn1
|
UTSW |
6 |
107,545,851 (GRCm39) |
missense |
probably benign |
0.16 |
R4970:Lrrn1
|
UTSW |
6 |
107,546,305 (GRCm39) |
missense |
probably benign |
0.06 |
R4977:Lrrn1
|
UTSW |
6 |
107,545,668 (GRCm39) |
missense |
probably benign |
|
R5121:Lrrn1
|
UTSW |
6 |
107,546,168 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5186:Lrrn1
|
UTSW |
6 |
107,546,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R5625:Lrrn1
|
UTSW |
6 |
107,544,315 (GRCm39) |
missense |
probably damaging |
0.99 |
R5873:Lrrn1
|
UTSW |
6 |
107,545,936 (GRCm39) |
missense |
probably damaging |
0.98 |
R5949:Lrrn1
|
UTSW |
6 |
107,544,465 (GRCm39) |
missense |
probably benign |
0.00 |
R6046:Lrrn1
|
UTSW |
6 |
107,545,488 (GRCm39) |
missense |
probably benign |
0.00 |
R6370:Lrrn1
|
UTSW |
6 |
107,546,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R7138:Lrrn1
|
UTSW |
6 |
107,545,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R7169:Lrrn1
|
UTSW |
6 |
107,544,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R7413:Lrrn1
|
UTSW |
6 |
107,546,083 (GRCm39) |
missense |
probably benign |
0.00 |
R7449:Lrrn1
|
UTSW |
6 |
107,545,482 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7969:Lrrn1
|
UTSW |
6 |
107,544,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R8077:Lrrn1
|
UTSW |
6 |
107,545,783 (GRCm39) |
missense |
probably damaging |
0.99 |
R8288:Lrrn1
|
UTSW |
6 |
107,543,955 (GRCm39) |
start gained |
probably benign |
|
R8420:Lrrn1
|
UTSW |
6 |
107,546,294 (GRCm39) |
missense |
probably benign |
0.00 |
R8725:Lrrn1
|
UTSW |
6 |
107,544,303 (GRCm39) |
nonsense |
probably null |
|
R9007:Lrrn1
|
UTSW |
6 |
107,544,820 (GRCm39) |
missense |
probably damaging |
0.99 |
R9133:Lrrn1
|
UTSW |
6 |
107,544,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R9367:Lrrn1
|
UTSW |
6 |
107,545,093 (GRCm39) |
missense |
probably damaging |
0.98 |
R9373:Lrrn1
|
UTSW |
6 |
107,545,465 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9475:Lrrn1
|
UTSW |
6 |
107,545,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R9513:Lrrn1
|
UTSW |
6 |
107,545,505 (GRCm39) |
missense |
probably benign |
0.04 |
R9516:Lrrn1
|
UTSW |
6 |
107,545,505 (GRCm39) |
missense |
probably benign |
0.04 |
R9549:Lrrn1
|
UTSW |
6 |
107,545,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGTTCAGATCTCGGTCAGGAAC -3'
(R):5'- TCAAGTTTGCCAGCCCTACC -3'
Sequencing Primer
(F):5'- AACTGGGTGTGGTTGGCAAG -3'
(R):5'- GTAAAGTTGTTCTGGGAGAAATCC -3'
|
Posted On |
2017-01-03 |