Incidental Mutation 'R2039:Lrfn5'
| ID |
225447 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrfn5
|
| Ensembl Gene |
ENSMUSG00000035653 |
| Gene Name |
leucine rich repeat and fibronectin type III domain containing 5 |
| Synonyms |
|
| MMRRC Submission |
040046-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R2039 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
61569936-61905128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61887109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 299
(L299S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055815]
[ENSMUST00000119481]
|
| AlphaFold |
Q8BXA0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055815
AA Change: L299S
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000051546
Gene: ENSMUSG00000035653
AA Change: L299S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LRRNT
|
19 |
55 |
1.11e1 |
SMART |
|
LRR
|
74 |
97 |
3.07e-1 |
SMART |
|
LRR_TYP
|
98 |
121 |
1.2e-3 |
SMART |
|
LRR_TYP
|
122 |
145 |
8.94e-3 |
SMART |
|
LRR
|
146 |
169 |
6.58e0 |
SMART |
|
LRR_TYP
|
170 |
193 |
8.34e-3 |
SMART |
|
LRR
|
194 |
218 |
2.47e1 |
SMART |
|
LRRCT
|
240 |
285 |
1.65e-2 |
SMART |
|
IGc2
|
299 |
364 |
3.53e-13 |
SMART |
|
low complexity region
|
393 |
412 |
N/A |
INTRINSIC |
|
Blast:FN3
|
414 |
495 |
2e-48 |
BLAST |
|
transmembrane domain
|
528 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
613 |
627 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119481
AA Change: L299S
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113123
Gene: ENSMUSG00000035653
AA Change: L299S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LRRNT
|
19 |
55 |
1.11e1 |
SMART |
|
LRR
|
74 |
97 |
3.07e-1 |
SMART |
|
LRR_TYP
|
98 |
121 |
1.2e-3 |
SMART |
|
LRR_TYP
|
122 |
145 |
8.94e-3 |
SMART |
|
LRR
|
146 |
169 |
6.58e0 |
SMART |
|
LRR_TYP
|
170 |
193 |
8.34e-3 |
SMART |
|
LRR
|
194 |
218 |
2.47e1 |
SMART |
|
LRRCT
|
240 |
285 |
1.65e-2 |
SMART |
|
IGc2
|
299 |
364 |
3.53e-13 |
SMART |
|
low complexity region
|
393 |
412 |
N/A |
INTRINSIC |
|
Blast:FN3
|
414 |
495 |
2e-48 |
BLAST |
|
transmembrane domain
|
528 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
613 |
627 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
96% (45/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,636,908 (GRCm39) |
T757K |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,911,487 (GRCm39) |
V1357A |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,190,755 (GRCm39) |
F785S |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,058,027 (GRCm39) |
F3206I |
possibly damaging |
Het |
| Bmal1 |
T |
G |
7: 112,884,319 (GRCm39) |
L119R |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,610,819 (GRCm39) |
I554V |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,916,643 (GRCm39) |
|
probably benign |
Het |
| Cuzd1 |
T |
C |
7: 130,911,345 (GRCm39) |
S545G |
probably benign |
Het |
| Edrf1 |
T |
A |
7: 133,255,678 (GRCm39) |
Y574* |
probably null |
Het |
| Eef1d |
T |
C |
15: 75,767,618 (GRCm39) |
D252G |
probably damaging |
Het |
| Efna5 |
T |
G |
17: 63,188,061 (GRCm39) |
D22A |
probably benign |
Het |
| Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,790,039 (GRCm39) |
S881P |
probably damaging |
Het |
| Exoc3 |
A |
G |
13: 74,341,096 (GRCm39) |
I236T |
probably benign |
Het |
| Far2 |
T |
C |
6: 148,067,075 (GRCm39) |
L320S |
probably benign |
Het |
| Fsd1l |
T |
A |
4: 53,679,972 (GRCm39) |
D223E |
probably benign |
Het |
| Fut1 |
C |
T |
7: 45,268,415 (GRCm39) |
A123V |
possibly damaging |
Het |
| Gap43 |
A |
T |
16: 42,112,715 (GRCm39) |
D15E |
possibly damaging |
Het |
| Gm12789 |
T |
C |
4: 101,846,183 (GRCm39) |
|
probably benign |
Het |
| Gm5114 |
T |
A |
7: 39,058,612 (GRCm39) |
T336S |
probably damaging |
Het |
| Hhla1 |
G |
A |
15: 65,808,226 (GRCm39) |
T273I |
possibly damaging |
Het |
| Hira |
A |
G |
16: 18,770,451 (GRCm39) |
H812R |
probably benign |
Het |
| Hsp90aa1 |
T |
C |
12: 110,660,216 (GRCm39) |
N360S |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,534,038 (GRCm39) |
L1463S |
possibly damaging |
Het |
| Lman2l |
A |
G |
1: 36,467,535 (GRCm39) |
F171S |
probably damaging |
Het |
| Msr1 |
A |
T |
8: 40,042,418 (GRCm39) |
W386R |
probably damaging |
Het |
| Myo1e |
T |
C |
9: 70,227,415 (GRCm39) |
V162A |
possibly damaging |
Het |
| Npy6r |
A |
G |
18: 44,409,070 (GRCm39) |
T164A |
probably benign |
Het |
| Or52e4 |
T |
C |
7: 104,705,597 (GRCm39) |
L48P |
possibly damaging |
Het |
| Rbak |
C |
A |
5: 143,158,930 (GRCm39) |
V708L |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,700,440 (GRCm39) |
I1646V |
probably damaging |
Het |
| Rsrc1 |
A |
G |
3: 66,901,951 (GRCm39) |
T34A |
unknown |
Het |
| Septin9 |
G |
A |
11: 117,242,443 (GRCm39) |
V53I |
probably damaging |
Het |
| Snrnp200 |
G |
A |
2: 127,076,904 (GRCm39) |
A1646T |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,120,510 (GRCm39) |
S4167P |
probably damaging |
Het |
| Sqor |
G |
A |
2: 122,634,324 (GRCm39) |
|
probably null |
Het |
| St7 |
T |
C |
6: 17,886,111 (GRCm39) |
Y358H |
probably damaging |
Het |
| Tafa1 |
C |
A |
6: 96,631,725 (GRCm39) |
|
probably null |
Het |
| Tas2r126 |
T |
A |
6: 42,411,557 (GRCm39) |
M30K |
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,408,922 (GRCm39) |
T700I |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,698,810 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
T |
G |
1: 87,983,703 (GRCm39) |
I167S |
probably benign |
Het |
| Uhmk1 |
T |
C |
1: 170,039,836 (GRCm39) |
D88G |
probably damaging |
Het |
| Washc2 |
T |
A |
6: 116,201,400 (GRCm39) |
F332Y |
probably damaging |
Het |
| Wdr48 |
T |
A |
9: 119,738,453 (GRCm39) |
W38R |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,242,388 (GRCm39) |
D622G |
probably damaging |
Het |
|
| Other mutations in Lrfn5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Lrfn5
|
APN |
12 |
61,890,912 (GRCm39) |
missense |
probably benign |
|
|
IGL02010:Lrfn5
|
APN |
12 |
61,886,469 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03033:Lrfn5
|
APN |
12 |
61,886,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03094:Lrfn5
|
APN |
12 |
61,886,532 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03207:Lrfn5
|
APN |
12 |
61,890,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
falstaffian
|
UTSW |
12 |
61,890,348 (GRCm39) |
missense |
probably benign |
0.21 |
|
PIT4696001:Lrfn5
|
UTSW |
12 |
61,890,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0402:Lrfn5
|
UTSW |
12 |
61,886,803 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0738:Lrfn5
|
UTSW |
12 |
61,887,378 (GRCm39) |
nonsense |
probably null |
|
|
R0744:Lrfn5
|
UTSW |
12 |
61,886,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0833:Lrfn5
|
UTSW |
12 |
61,886,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Lrfn5
|
UTSW |
12 |
61,890,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Lrfn5
|
UTSW |
12 |
61,890,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:Lrfn5
|
UTSW |
12 |
61,890,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1073:Lrfn5
|
UTSW |
12 |
61,887,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1332:Lrfn5
|
UTSW |
12 |
61,904,314 (GRCm39) |
splice site |
probably benign |
|
|
R1500:Lrfn5
|
UTSW |
12 |
61,886,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3834:Lrfn5
|
UTSW |
12 |
61,886,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4171:Lrfn5
|
UTSW |
12 |
61,890,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4212:Lrfn5
|
UTSW |
12 |
61,890,606 (GRCm39) |
missense |
probably benign |
|
|
R4394:Lrfn5
|
UTSW |
12 |
61,890,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4578:Lrfn5
|
UTSW |
12 |
61,890,763 (GRCm39) |
missense |
probably benign |
|
|
R4661:Lrfn5
|
UTSW |
12 |
61,886,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4730:Lrfn5
|
UTSW |
12 |
61,887,505 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4955:Lrfn5
|
UTSW |
12 |
61,886,764 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4968:Lrfn5
|
UTSW |
12 |
61,886,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Lrfn5
|
UTSW |
12 |
61,886,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5078:Lrfn5
|
UTSW |
12 |
61,890,660 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5165:Lrfn5
|
UTSW |
12 |
61,886,410 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5768:Lrfn5
|
UTSW |
12 |
61,886,509 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5892:Lrfn5
|
UTSW |
12 |
61,890,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6133:Lrfn5
|
UTSW |
12 |
61,890,574 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6211:Lrfn5
|
UTSW |
12 |
61,886,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6297:Lrfn5
|
UTSW |
12 |
61,890,348 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6341:Lrfn5
|
UTSW |
12 |
61,890,368 (GRCm39) |
nonsense |
probably null |
|
|
R6861:Lrfn5
|
UTSW |
12 |
61,886,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7179:Lrfn5
|
UTSW |
12 |
61,890,768 (GRCm39) |
missense |
probably benign |
|
|
R7392:Lrfn5
|
UTSW |
12 |
61,887,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8224:Lrfn5
|
UTSW |
12 |
61,890,192 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8261:Lrfn5
|
UTSW |
12 |
61,886,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9528:Lrfn5
|
UTSW |
12 |
61,886,408 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9641:Lrfn5
|
UTSW |
12 |
61,886,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Lrfn5
|
UTSW |
12 |
61,890,418 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9653:Lrfn5
|
UTSW |
12 |
61,890,418 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Lrfn5
|
UTSW |
12 |
61,886,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCATCGACTTTTGCATTG -3'
(R):5'- TGCCGGATTGGAAGCAATACAG -3'
Sequencing Primer
(F):5'- GTGGAAACCCCTTGCATTG -3'
(R):5'- TTGGAAGCAATACAGGTAAAAGCTCC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation