Incidental Mutation 'R4538:Lrrn1'
| ID |
333410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrn1
|
| Ensembl Gene |
ENSMUSG00000034648 |
| Gene Name |
leucine rich repeat protein 1, neuronal |
| Synonyms |
2810047E21Rik, NLRR-1 |
| MMRRC Submission |
041775-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.339)
|
| Stock # |
R4538 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
107506729-107547175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107545598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 465
(N465K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049285]
|
| AlphaFold |
Q61809 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049285
AA Change: N465K
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000037096
Gene: ENSMUSG00000034648
AA Change: N465K
| 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 |
|
| Meta Mutation Damage Score |
0.0635 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
97% (36/37) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110018I06Rik |
G |
A |
12: 107,455,096 (GRCm39) |
V61M |
unknown |
Het |
| Abcc9 |
A |
G |
6: 142,560,138 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
A |
T |
1: 165,340,696 (GRCm39) |
M234L |
probably benign |
Het |
| B4galt3 |
T |
C |
1: 171,100,280 (GRCm39) |
F150S |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Chd4 |
A |
T |
6: 125,097,649 (GRCm39) |
D1377V |
probably damaging |
Het |
| Cope |
T |
A |
8: 70,759,157 (GRCm39) |
I16N |
probably damaging |
Het |
| Cpd |
A |
T |
11: 76,681,825 (GRCm39) |
N1140K |
probably benign |
Het |
| Cyp7b1 |
A |
T |
3: 18,151,745 (GRCm39) |
I156N |
possibly damaging |
Het |
| Depdc5 |
T |
C |
5: 33,141,290 (GRCm39) |
Y1397H |
probably damaging |
Het |
| Dnajc13 |
CT |
C |
9: 104,064,004 (GRCm39) |
|
probably benign |
Het |
| Ebf1 |
T |
A |
11: 44,798,822 (GRCm39) |
D289E |
probably benign |
Het |
| Egflam |
T |
C |
15: 7,281,918 (GRCm39) |
Y406C |
probably damaging |
Het |
| Hfm1 |
T |
C |
5: 107,022,756 (GRCm39) |
T949A |
possibly damaging |
Het |
| Ifih1 |
A |
G |
2: 62,447,756 (GRCm39) |
V316A |
probably damaging |
Het |
| Kif1a |
C |
T |
1: 93,004,769 (GRCm39) |
V142M |
probably damaging |
Het |
| Kng2 |
C |
A |
16: 22,806,813 (GRCm39) |
R462L |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,722,334 (GRCm39) |
L2372Q |
probably damaging |
Het |
| Men1 |
T |
C |
19: 6,386,784 (GRCm39) |
F159L |
possibly damaging |
Het |
| Mul1 |
T |
C |
4: 138,165,706 (GRCm39) |
|
probably benign |
Het |
| Or2l13b |
A |
T |
16: 19,349,381 (GRCm39) |
C96* |
probably null |
Het |
| Pramel6 |
T |
G |
2: 87,338,903 (GRCm39) |
H34Q |
probably benign |
Het |
| Ripk4 |
A |
T |
16: 97,544,352 (GRCm39) |
L702* |
probably null |
Het |
| Slc5a4a |
C |
T |
10: 76,013,929 (GRCm39) |
R379* |
probably null |
Het |
| Slc9a3 |
T |
C |
13: 74,309,851 (GRCm39) |
V513A |
possibly damaging |
Het |
| Strada |
A |
C |
11: 106,058,651 (GRCm39) |
M245R |
probably damaging |
Het |
| Sycp1 |
A |
T |
3: 102,748,278 (GRCm39) |
I838K |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trbv17 |
A |
C |
6: 41,140,286 (GRCm39) |
N47T |
probably benign |
Het |
| Washc3 |
T |
A |
10: 88,051,871 (GRCm39) |
S87T |
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 |
|
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 |
|
R5736:Lrrn1
|
UTSW |
6 |
107,544,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACATTCGCTTCATGGAGCC -3'
(R):5'- GCACCATCTAGAAGGGTTCC -3'
Sequencing Primer
(F):5'- CATGCCACCGGAATACAGGG -3'
(R):5'- GCACCATCTAGAAGGGTTCCATTAAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation