Incidental Mutation 'R9528:Lrfn5'
| ID |
719350 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R9528 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
61569936-61905128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61886408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 65
(N65K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055815]
[ENSMUST00000119481]
|
| AlphaFold |
Q8BXA0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055815
AA Change: N65K
PolyPhen 2
Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000051546
Gene: ENSMUSG00000035653
AA Change: N65K
| 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: N65K
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113123
Gene: ENSMUSG00000035653
AA Change: N65K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030452D12Rik |
A |
T |
8: 107,231,129 (GRCm39) |
D105V |
unknown |
Het |
| Abi2 |
T |
C |
1: 60,473,453 (GRCm39) |
S57P |
probably damaging |
Het |
| Acap2 |
C |
A |
16: 30,929,908 (GRCm39) |
K358N |
possibly damaging |
Het |
| Adgrd1 |
A |
G |
5: 129,256,740 (GRCm39) |
Y703C |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,026,772 (GRCm39) |
|
probably null |
Het |
| Bpifb9b |
A |
G |
2: 154,153,297 (GRCm39) |
E121G |
probably benign |
Het |
| Btnl1 |
T |
A |
17: 34,603,352 (GRCm39) |
F338I |
possibly damaging |
Het |
| Clptm1l |
G |
A |
13: 73,760,550 (GRCm39) |
S311N |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,731,789 (GRCm39) |
K1488M |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,043,575 (GRCm39) |
Y16N |
possibly damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,114,904 (GRCm39) |
S56G |
probably benign |
Het |
| Dpep3 |
C |
A |
8: 106,704,251 (GRCm39) |
A230S |
probably benign |
Het |
| Gabrr2 |
T |
C |
4: 33,081,483 (GRCm39) |
I173T |
probably benign |
Het |
| Klhl5 |
T |
C |
5: 65,313,586 (GRCm39) |
|
probably null |
Het |
| Lekr1 |
T |
C |
3: 65,591,608 (GRCm39) |
F115S |
unknown |
Het |
| Lipc |
A |
T |
9: 70,841,841 (GRCm39) |
M1K |
probably null |
Het |
| Mmp17 |
G |
C |
5: 129,683,392 (GRCm39) |
E509D |
probably benign |
Het |
| Myo1f |
T |
C |
17: 33,797,156 (GRCm39) |
|
probably null |
Het |
| Or10h28 |
T |
A |
17: 33,488,445 (GRCm39) |
V249E |
probably damaging |
Het |
| Or14a258 |
T |
A |
7: 86,035,059 (GRCm39) |
R270* |
probably null |
Het |
| Or1o3 |
T |
A |
17: 37,574,087 (GRCm39) |
H156L |
probably benign |
Het |
| Or7g32 |
A |
G |
9: 19,389,444 (GRCm39) |
F34S |
probably damaging |
Het |
| Pclo |
G |
A |
5: 14,727,691 (GRCm39) |
R2183Q |
unknown |
Het |
| Plec |
T |
A |
15: 76,061,033 (GRCm39) |
H2968L |
possibly damaging |
Het |
| Ppp2r1a |
A |
G |
17: 21,176,153 (GRCm39) |
E125G |
probably benign |
Het |
| Prkcd |
T |
C |
14: 30,323,768 (GRCm39) |
D458G |
probably damaging |
Het |
| Ptch1 |
A |
C |
13: 63,661,615 (GRCm39) |
N1174K |
probably benign |
Het |
| Sarnp |
A |
G |
10: 128,708,326 (GRCm39) |
R180G |
probably damaging |
Het |
| Secisbp2 |
A |
G |
13: 51,810,979 (GRCm39) |
K214E |
possibly damaging |
Het |
| Sorl1 |
C |
A |
9: 41,933,631 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
A |
1: 75,364,447 (GRCm39) |
I276N |
possibly damaging |
Het |
| Txnrd3 |
A |
G |
6: 89,649,954 (GRCm39) |
Y518C |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,837,960 (GRCm39) |
I964F |
possibly damaging |
Het |
| Wars2 |
A |
G |
3: 99,111,922 (GRCm39) |
H140R |
possibly damaging |
Het |
| Zfp148 |
T |
A |
16: 33,316,660 (GRCm39) |
I444N |
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 |
|
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 |
|
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'- CTCATTGGCATAGCTGTGCG -3'
(R):5'- ACATCATCGAAGGCTGTGGAAG -3'
Sequencing Primer
(F):5'- TGCGAGCTCAGATCTGTCCAAAG -3'
(R):5'- GTTCAATATCAAATGGTGGAGATTGG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation