Incidental Mutation 'R3834:Lrfn5'
| ID |
275557 |
| 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 |
040889-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R3834 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
61569936-61905128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61886816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 201
(D201E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055815]
[ENSMUST00000119481]
|
| AlphaFold |
Q8BXA0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055815
AA Change: D201E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051546
Gene: ENSMUSG00000035653
AA Change: D201E
| 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 |
probably damaging
Transcript: ENSMUST00000119481
AA Change: D201E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113123
Gene: ENSMUSG00000035653
AA Change: D201E
| 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 |
0.2434 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (44/44) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh6a |
G |
A |
3: 138,033,275 (GRCm39) |
|
probably null |
Het |
| Bptf |
T |
C |
11: 106,964,683 (GRCm39) |
T1389A |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,636,985 (GRCm39) |
|
probably benign |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Coq5 |
G |
T |
5: 115,422,635 (GRCm39) |
G180W |
probably damaging |
Het |
| Cyp2d34 |
A |
G |
15: 82,500,947 (GRCm39) |
|
probably null |
Het |
| Cyp2j13 |
C |
T |
4: 95,944,794 (GRCm39) |
|
probably null |
Het |
| Fam114a1 |
C |
T |
5: 65,163,416 (GRCm39) |
T197I |
possibly damaging |
Het |
| Fbxo44 |
A |
G |
4: 148,240,707 (GRCm39) |
Y227H |
probably damaging |
Het |
| Gm5114 |
T |
A |
7: 39,058,161 (GRCm39) |
H486L |
possibly damaging |
Het |
| Grik4 |
T |
C |
9: 42,540,419 (GRCm39) |
R254G |
probably benign |
Het |
| Iqcm |
T |
C |
8: 76,304,380 (GRCm39) |
I47T |
possibly damaging |
Het |
| Kif20b |
A |
G |
19: 34,912,428 (GRCm39) |
Y278C |
probably damaging |
Het |
| Lbhd1 |
G |
A |
19: 8,861,421 (GRCm39) |
C43Y |
probably benign |
Het |
| Map1a |
G |
A |
2: 121,137,803 (GRCm39) |
G2635D |
probably damaging |
Het |
| Ms4a4a |
A |
T |
19: 11,356,219 (GRCm39) |
M35L |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,412,918 (GRCm39) |
I1955F |
unknown |
Het |
| Mug2 |
T |
C |
6: 122,026,746 (GRCm39) |
|
probably null |
Het |
| Nav2 |
T |
A |
7: 49,195,606 (GRCm39) |
I994N |
possibly damaging |
Het |
| Ngly1 |
T |
C |
14: 16,290,766 (GRCm38) |
|
probably benign |
Het |
| Nr1i2 |
T |
C |
16: 38,074,291 (GRCm39) |
|
probably null |
Het |
| Or51f5 |
A |
G |
7: 102,424,493 (GRCm39) |
Y254C |
probably damaging |
Het |
| Or52h9 |
T |
A |
7: 104,202,552 (GRCm39) |
V142D |
probably benign |
Het |
| Or5p69 |
A |
T |
7: 107,967,279 (GRCm39) |
D194V |
probably damaging |
Het |
| Oxct2a |
C |
T |
4: 123,216,266 (GRCm39) |
V372I |
probably benign |
Het |
| Pax6 |
G |
A |
2: 105,526,795 (GRCm39) |
E234K |
probably benign |
Het |
| Pramel14 |
T |
A |
4: 143,720,796 (GRCm39) |
K48N |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,609,810 (GRCm39) |
E3138G |
probably damaging |
Het |
| Ptprc |
T |
A |
1: 138,011,305 (GRCm39) |
N584I |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,389,307 (GRCm39) |
V1261A |
probably damaging |
Het |
| Rps20 |
A |
T |
4: 3,834,610 (GRCm39) |
I84N |
probably damaging |
Het |
| Scd3 |
A |
G |
19: 44,230,156 (GRCm39) |
Y313C |
probably damaging |
Het |
| Sertad2 |
T |
C |
11: 20,598,482 (GRCm39) |
I226T |
probably benign |
Het |
| Slc15a2 |
A |
T |
16: 36,592,490 (GRCm39) |
C191* |
probably null |
Het |
| Slco1a1 |
G |
T |
6: 141,889,163 (GRCm39) |
Q50K |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,785,776 (GRCm39) |
I622N |
possibly damaging |
Het |
| Tmc4 |
C |
T |
7: 3,675,006 (GRCm39) |
V222M |
probably benign |
Het |
| Tmem145 |
T |
C |
7: 25,010,786 (GRCm39) |
F359L |
probably damaging |
Het |
| Tmem238 |
C |
A |
7: 4,792,078 (GRCm39) |
R155L |
possibly damaging |
Het |
| Vmn1r32 |
C |
A |
6: 66,530,647 (GRCm39) |
C43F |
probably benign |
Het |
| Vmn2r104 |
C |
T |
17: 20,250,183 (GRCm39) |
R696K |
probably benign |
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 |
|
R2039:Lrfn5
|
UTSW |
12 |
61,887,109 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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'- CTTCCACAGCCTTCGATGATG -3'
(R):5'- CGACCAGTTAAAAGTGCAGG -3'
Sequencing Primer
(F):5'- ACAGCCTTCGATGATGTTTTTGC -3'
(R):5'- TGCAGGAGAAGCACACGTCTC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation