Incidental Mutation 'R4955:Lrfn5'
| ID |
381542 |
| 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 |
042552-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R4955 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
61569936-61905128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 61886764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 184
(D184A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055815]
[ENSMUST00000119481]
|
| AlphaFold |
Q8BXA0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055815
AA Change: D184A
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000051546
Gene: ENSMUSG00000035653
AA Change: D184A
| 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 benign
Transcript: ENSMUST00000119481
AA Change: D184A
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113123
Gene: ENSMUSG00000035653
AA Change: D184A
| 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 |
0.1271 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
100% (50/50) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
G |
C |
1: 120,096,840 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
C |
T |
1: 120,096,850 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
G |
T |
1: 120,096,849 (GRCm39) |
|
probably benign |
Het |
| 4933407L21Rik |
T |
A |
1: 85,859,008 (GRCm39) |
|
probably benign |
Het |
| Abca8a |
T |
G |
11: 109,927,338 (GRCm39) |
E1338D |
probably benign |
Het |
| Arl2bp |
G |
A |
8: 95,397,056 (GRCm39) |
|
probably null |
Het |
| Arsj |
T |
C |
3: 126,232,189 (GRCm39) |
Y312H |
probably benign |
Het |
| Atp8b2 |
G |
T |
3: 89,860,227 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
T |
C |
1: 104,912,528 (GRCm39) |
V594A |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,295,640 (GRCm39) |
V1646E |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 48,536,914 (GRCm39) |
I96K |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,191,455 (GRCm39) |
Q1556R |
possibly damaging |
Het |
| Fstl5 |
T |
A |
3: 76,131,183 (GRCm39) |
|
probably null |
Het |
| H4c9 |
T |
A |
13: 22,225,355 (GRCm39) |
I47F |
probably damaging |
Het |
| Hivep2 |
T |
A |
10: 14,006,702 (GRCm39) |
M1100K |
probably benign |
Het |
| Ing4 |
C |
T |
6: 125,025,164 (GRCm39) |
A225V |
probably damaging |
Het |
| Kcnc3 |
CTT |
CT |
7: 44,240,720 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
T |
A |
1: 32,559,158 (GRCm39) |
|
probably benign |
Het |
| Kif21a |
A |
T |
15: 90,821,393 (GRCm39) |
W1566R |
probably damaging |
Het |
| Mettl2 |
C |
T |
11: 105,028,605 (GRCm39) |
T319I |
possibly damaging |
Het |
| Mgrn1 |
T |
C |
16: 4,752,083 (GRCm39) |
V529A |
probably benign |
Het |
| Naca |
T |
A |
10: 127,878,084 (GRCm39) |
|
probably benign |
Het |
| Ninj2 |
A |
G |
6: 120,174,907 (GRCm39) |
N26S |
probably damaging |
Het |
| Nqo1 |
A |
G |
8: 108,115,489 (GRCm39) |
S263P |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,959,998 (GRCm39) |
T3566A |
probably benign |
Het |
| Opn5 |
A |
T |
17: 42,922,129 (GRCm39) |
F24L |
probably damaging |
Het |
| Or14j8 |
T |
C |
17: 38,263,789 (GRCm39) |
N42S |
probably damaging |
Het |
| Or2t43 |
A |
G |
11: 58,457,344 (GRCm39) |
Y276H |
probably damaging |
Het |
| Or4k41 |
A |
T |
2: 111,279,950 (GRCm39) |
H155L |
probably damaging |
Het |
| Or52a20 |
A |
T |
7: 103,365,912 (GRCm39) |
Y37F |
probably benign |
Het |
| Palmd |
A |
G |
3: 116,717,873 (GRCm39) |
V208A |
probably damaging |
Het |
| Plekhd1 |
T |
A |
12: 80,768,795 (GRCm39) |
I426N |
possibly damaging |
Het |
| Polq |
T |
G |
16: 36,881,444 (GRCm39) |
Y1203D |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,415,143 (GRCm39) |
F251S |
probably damaging |
Het |
| Prkd3 |
T |
C |
17: 79,260,156 (GRCm39) |
M816V |
probably null |
Het |
| Rab3gap2 |
C |
T |
1: 184,999,352 (GRCm39) |
|
probably benign |
Het |
| Rcan2 |
C |
A |
17: 44,347,972 (GRCm39) |
P13Q |
probably damaging |
Het |
| Slc35b3 |
A |
G |
13: 39,116,866 (GRCm39) |
V329A |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,318,246 (GRCm39) |
M633T |
probably benign |
Het |
| Stac2 |
A |
C |
11: 97,934,374 (GRCm39) |
L110R |
possibly damaging |
Het |
| Styxl2 |
T |
C |
1: 165,935,661 (GRCm39) |
Y179C |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,154,075 (GRCm39) |
E126G |
probably damaging |
Het |
| Ttll6 |
A |
G |
11: 96,029,615 (GRCm39) |
D176G |
possibly damaging |
Het |
| Utrn |
C |
T |
10: 12,737,311 (GRCm39) |
|
probably null |
Het |
| Zfp341 |
T |
C |
2: 154,479,950 (GRCm39) |
V467A |
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 |
|
R2039:Lrfn5
|
UTSW |
12 |
61,887,109 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
|
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'- AGCACTGCATTTGAATAGCAAC -3'
(R):5'- GGGGTTTCCACCAAAACTCAATG -3'
Sequencing Primer
(F):5'- CAAATGATATGTTCAGTGGGCTTTCC -3'
(R):5'- GCAAAAGTCGATGGGCTTATGATTCC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation