Incidental Mutation 'R8288:Lrrn1'
| ID |
638525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrn1
|
| Ensembl Gene |
ENSMUSG00000034648 |
| Gene Name |
leucine rich repeat protein 1, neuronal |
| Synonyms |
2810047E21Rik, NLRR-1 |
| MMRRC Submission |
067710-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.345)
|
| Stock # |
R8288 (G1)
|
| Quality Score |
113.008 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
107506729-107547175 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to T
at 107543955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049285]
|
| AlphaFold |
Q61809 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049285
|
| SMART Domains |
Protein: ENSMUSP00000037096
Gene: ENSMUSG00000034648
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3m2 |
C |
T |
8: 23,283,153 (GRCm39) |
A200T |
probably benign |
Het |
| Arpp19 |
T |
C |
9: 74,944,914 (GRCm39) |
M1T |
probably null |
Het |
| Baiap2 |
T |
A |
11: 119,888,465 (GRCm39) |
V407E |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,446,073 (GRCm39) |
T508A |
probably damaging |
Het |
| Cnnm3 |
C |
A |
1: 36,551,074 (GRCm39) |
A28E |
possibly damaging |
Het |
| Cpb1 |
A |
T |
3: 20,319,531 (GRCm39) |
C184* |
probably null |
Het |
| Ddb1 |
T |
C |
19: 10,585,712 (GRCm39) |
V142A |
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,620,762 (GRCm39) |
V498A |
probably damaging |
Het |
| Dmgdh |
T |
C |
13: 93,845,332 (GRCm39) |
Y442H |
probably damaging |
Het |
| Dync2i1 |
A |
G |
12: 116,177,345 (GRCm39) |
F811S |
probably damaging |
Het |
| Eef2k |
T |
A |
7: 120,502,604 (GRCm39) |
M722K |
probably damaging |
Het |
| Erbb4 |
A |
G |
1: 68,337,509 (GRCm39) |
F603S |
probably damaging |
Het |
| Filip1l |
C |
T |
16: 57,390,917 (GRCm39) |
R502C |
probably damaging |
Het |
| Gbp9 |
C |
T |
5: 105,253,599 (GRCm39) |
V39M |
probably damaging |
Het |
| Gm17079 |
T |
C |
14: 51,931,815 (GRCm39) |
Y98C |
|
Het |
| Gstz1 |
A |
G |
12: 87,194,604 (GRCm39) |
M1V |
probably null |
Het |
| Hsd17b13 |
T |
G |
5: 104,111,701 (GRCm39) |
I281L |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,233,661 (GRCm39) |
E1833G |
probably damaging |
Het |
| Irs1 |
G |
A |
1: 82,265,682 (GRCm39) |
Q845* |
probably null |
Het |
| Kctd11 |
C |
T |
11: 69,770,883 (GRCm39) |
G52R |
probably damaging |
Het |
| Kit |
T |
C |
5: 75,815,149 (GRCm39) |
S962P |
probably damaging |
Het |
| Mastl |
T |
C |
2: 23,023,371 (GRCm39) |
K451E |
probably damaging |
Het |
| Mptx2 |
A |
G |
1: 173,102,356 (GRCm39) |
V111A |
probably benign |
Het |
| Nuak2 |
G |
T |
1: 132,255,579 (GRCm39) |
C178F |
probably damaging |
Het |
| Pah |
G |
A |
10: 87,374,047 (GRCm39) |
R71H |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,762,885 (GRCm39) |
T501K |
|
Het |
| Pla2g4e |
C |
T |
2: 120,018,990 (GRCm39) |
|
probably null |
Het |
| Polq |
A |
G |
16: 36,848,272 (GRCm39) |
E293G |
probably damaging |
Het |
| Rptor |
G |
A |
11: 119,748,763 (GRCm39) |
E782K |
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,506,318 (GRCm39) |
R1524W |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,203,237 (GRCm39) |
S46P |
probably benign |
Het |
| Srcap |
T |
A |
7: 127,130,528 (GRCm39) |
I664N |
probably damaging |
Het |
| Stk24 |
A |
C |
14: 121,530,841 (GRCm39) |
F372V |
possibly damaging |
Het |
| Szt2 |
T |
C |
4: 118,246,973 (GRCm39) |
S881G |
probably damaging |
Het |
| Trim40 |
T |
C |
17: 37,194,210 (GRCm39) |
D161G |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,860,643 (GRCm39) |
H234R |
possibly damaging |
Het |
| Trpc1 |
T |
C |
9: 95,603,434 (GRCm39) |
K366R |
probably damaging |
Het |
| Ugt2b35 |
T |
C |
5: 87,149,316 (GRCm39) |
L189P |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,512,509 (GRCm39) |
S140G |
probably benign |
Het |
| Zfp446 |
A |
G |
7: 12,711,885 (GRCm39) |
E36G |
probably benign |
Het |
| Zfp738 |
T |
A |
13: 67,818,908 (GRCm39) |
H361L |
possibly damaging |
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 |
|
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 |
|
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'- AGTGTTAGTGCAATAAGTGGGC -3'
(R):5'- TGACCGAGATCTGAACACGATTC -3'
Sequencing Primer
(F):5'- TGGGCCATAATAAGAGCATCC -3'
(R):5'- CAGCAAGCAGATAGTGTAAACATTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation