Incidental Mutation 'R1620:Lrrn1'
| ID |
174605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrn1
|
| Ensembl Gene |
ENSMUSG00000034648 |
| Gene Name |
leucine rich repeat protein 1, neuronal |
| Synonyms |
2810047E21Rik, NLRR-1 |
| MMRRC Submission |
039657-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.339)
|
| Stock # |
R1620 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
107506729-107547175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107545327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 375
(C375Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049285]
|
| AlphaFold |
Q61809 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049285
AA Change: C375Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037096
Gene: ENSMUSG00000034648
AA Change: C375Y
| 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 |
0.9441 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| Validation Efficiency |
95% (58/61) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2c2 |
T |
C |
8: 120,475,865 (GRCm39) |
V586A |
probably benign |
Het |
| Atp8a2 |
T |
A |
14: 60,028,632 (GRCm39) |
H945L |
probably benign |
Het |
| Bfar |
G |
T |
16: 13,506,710 (GRCm39) |
V187F |
probably damaging |
Het |
| Capn2 |
A |
T |
1: 182,344,702 (GRCm39) |
I73N |
probably damaging |
Het |
| Cfc1 |
C |
A |
1: 34,575,554 (GRCm39) |
A76E |
possibly damaging |
Het |
| Chl1 |
T |
C |
6: 103,667,203 (GRCm39) |
F398L |
probably benign |
Het |
| Cyp2u1 |
A |
G |
3: 131,096,350 (GRCm39) |
S143P |
probably damaging |
Het |
| Dlgap4 |
T |
A |
2: 156,591,056 (GRCm39) |
Y57* |
probably null |
Het |
| Epha4 |
T |
A |
1: 77,351,563 (GRCm39) |
R897S |
probably benign |
Het |
| Fscn2 |
A |
T |
11: 120,257,511 (GRCm39) |
T291S |
probably damaging |
Het |
| Gga1 |
G |
A |
15: 78,772,670 (GRCm39) |
S267N |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,376,850 (GRCm39) |
T1287A |
probably damaging |
Het |
| Gm10845 |
C |
A |
14: 80,100,669 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11559 |
T |
A |
11: 99,755,882 (GRCm39) |
L177Q |
unknown |
Het |
| Itga9 |
A |
G |
9: 118,672,570 (GRCm39) |
T195A |
probably benign |
Het |
| Krbox5 |
T |
C |
13: 67,991,109 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,074,028 (GRCm39) |
T935A |
probably benign |
Het |
| Lrrk1 |
G |
T |
7: 66,031,286 (GRCm39) |
T4K |
probably benign |
Het |
| Maip1 |
T |
C |
1: 57,449,144 (GRCm39) |
|
probably null |
Het |
| Mecom |
A |
T |
3: 30,041,237 (GRCm39) |
I119N |
probably damaging |
Het |
| Mrpl2 |
G |
A |
17: 46,958,425 (GRCm39) |
R69H |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,421,773 (GRCm39) |
V8246A |
possibly damaging |
Het |
| Myh3 |
C |
T |
11: 66,979,562 (GRCm39) |
|
probably benign |
Het |
| Myocd |
A |
G |
11: 65,087,220 (GRCm39) |
S236P |
probably benign |
Het |
| Myot |
A |
T |
18: 44,470,125 (GRCm39) |
Q34L |
possibly damaging |
Het |
| Nlrp5 |
A |
G |
7: 23,118,064 (GRCm39) |
D596G |
probably damaging |
Het |
| Npas2 |
T |
C |
1: 39,372,993 (GRCm39) |
S415P |
possibly damaging |
Het |
| Obox2 |
A |
G |
7: 15,130,966 (GRCm39) |
E66G |
probably benign |
Het |
| Or4f59 |
G |
T |
2: 111,872,591 (GRCm39) |
T262K |
probably benign |
Het |
| Pcdh9 |
G |
A |
14: 94,125,741 (GRCm39) |
P143L |
probably damaging |
Het |
| Phactr1 |
G |
T |
13: 43,248,373 (GRCm39) |
V356L |
probably damaging |
Het |
| Pparg |
A |
T |
6: 115,450,242 (GRCm39) |
I414L |
probably benign |
Het |
| Rapgef6 |
A |
T |
11: 54,517,420 (GRCm39) |
I371L |
possibly damaging |
Het |
| Rc3h1 |
T |
C |
1: 160,782,543 (GRCm39) |
V674A |
probably benign |
Het |
| Rps6ka4 |
T |
C |
19: 6,815,517 (GRCm39) |
Y159C |
probably damaging |
Het |
| Sf3b6 |
T |
C |
12: 4,876,808 (GRCm39) |
I67T |
possibly damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Spata17 |
T |
C |
1: 186,915,412 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
A |
G |
17: 88,943,244 (GRCm39) |
T217A |
probably benign |
Het |
| Tank |
A |
G |
2: 61,480,442 (GRCm39) |
D326G |
possibly damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,976,224 (GRCm39) |
N594K |
probably damaging |
Het |
| Tfpi2 |
T |
A |
6: 3,965,507 (GRCm39) |
T102S |
probably benign |
Het |
| Ulk4 |
T |
G |
9: 121,033,871 (GRCm39) |
E589D |
possibly damaging |
Het |
| Usp40 |
A |
T |
1: 87,921,947 (GRCm39) |
H305Q |
probably damaging |
Het |
| Vmn1r170 |
A |
G |
7: 23,305,754 (GRCm39) |
K52R |
probably benign |
Het |
| Vmn1r194 |
A |
G |
13: 22,429,133 (GRCm39) |
D250G |
probably damaging |
Het |
| Wdr6 |
A |
T |
9: 108,451,854 (GRCm39) |
D676E |
possibly damaging |
Het |
| Xirp2 |
T |
A |
2: 67,341,179 (GRCm39) |
V1140E |
probably 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 |
|
|
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 |
|
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'- AAAGTCCCTCAACTTGCCCTGC -3'
(R):5'- ATATCATCGGGAGGCACTGCTCAC -3'
Sequencing Primer
(F):5'- CCCTGGATAACTTGCCAGAATTG -3'
(R):5'- GGCTCCATGAAGCGAATGTT -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation