Incidental Mutation 'R4394:Lrfn5'
| ID |
326551 |
| 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 |
041683-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R4394 (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 61890276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 522
(S522P)
|
| 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: S522P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000051546
Gene: ENSMUSG00000035653
AA Change: S522P
| 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: S522P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113123
Gene: ENSMUSG00000035653
AA Change: S522P
| 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 |
0.3074 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
99% (69/70) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
G |
6: 88,813,566 (GRCm39) |
F391L |
probably damaging |
Het |
| AC140205.10 |
C |
A |
8: 21,323,181 (GRCm39) |
T192K |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,329,557 (GRCm39) |
|
probably null |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Brip1 |
A |
T |
11: 85,965,124 (GRCm39) |
N855K |
possibly damaging |
Het |
| Ces2f |
A |
G |
8: 105,677,586 (GRCm39) |
N197S |
probably damaging |
Het |
| Chd4 |
A |
G |
6: 125,098,581 (GRCm39) |
T1520A |
probably damaging |
Het |
| Cltc |
A |
C |
11: 86,624,456 (GRCm39) |
N159K |
probably damaging |
Het |
| Cntn1 |
C |
T |
15: 92,189,645 (GRCm39) |
T656I |
probably damaging |
Het |
| Crybg3 |
A |
G |
16: 59,380,458 (GRCm39) |
|
probably benign |
Het |
| Dzip1l |
T |
A |
9: 99,521,907 (GRCm39) |
L181H |
probably damaging |
Het |
| Fam3b |
C |
A |
16: 97,282,986 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
A |
8: 45,405,383 (GRCm39) |
N711K |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,834,088 (GRCm39) |
I4168T |
probably benign |
Het |
| Fbxw20 |
T |
C |
9: 109,061,398 (GRCm39) |
D117G |
probably benign |
Het |
| Gm8122 |
A |
G |
14: 43,091,525 (GRCm39) |
L81P |
unknown |
Het |
| Hal |
T |
C |
10: 93,332,421 (GRCm39) |
|
probably benign |
Het |
| Hgf |
T |
A |
5: 16,823,949 (GRCm39) |
Y715* |
probably null |
Het |
| Hid1 |
T |
A |
11: 115,258,468 (GRCm39) |
|
probably benign |
Het |
| Hyou1 |
T |
A |
9: 44,293,169 (GRCm39) |
V125E |
probably damaging |
Het |
| Jrkl |
G |
A |
9: 13,245,146 (GRCm39) |
Q172* |
probably null |
Het |
| Lamc3 |
A |
G |
2: 31,821,964 (GRCm39) |
E1304G |
probably benign |
Het |
| Lman2l |
A |
C |
1: 36,478,804 (GRCm39) |
C103G |
probably damaging |
Het |
| Mark3 |
A |
T |
12: 111,570,957 (GRCm39) |
I86L |
possibly damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mgst2 |
G |
A |
3: 51,571,949 (GRCm39) |
V26I |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,077,525 (GRCm39) |
Y158* |
probably null |
Het |
| Nipbl |
T |
C |
15: 8,391,345 (GRCm39) |
I210V |
probably benign |
Het |
| Or7g18 |
A |
T |
9: 18,786,907 (GRCm39) |
I95L |
probably damaging |
Het |
| Or8j3b |
C |
T |
2: 86,205,523 (GRCm39) |
A78T |
possibly damaging |
Het |
| Pcdhb8 |
C |
T |
18: 37,489,935 (GRCm39) |
P538S |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,278,376 (GRCm39) |
D295G |
probably damaging |
Het |
| Prss38 |
T |
C |
11: 59,263,854 (GRCm39) |
Y286C |
probably damaging |
Het |
| Psen2 |
A |
T |
1: 180,068,347 (GRCm39) |
V102E |
probably damaging |
Het |
| Ptpn9 |
A |
T |
9: 56,943,847 (GRCm39) |
K126N |
possibly damaging |
Het |
| Ptprd |
A |
G |
4: 76,046,922 (GRCm39) |
I435T |
probably damaging |
Het |
| Rab39 |
T |
C |
9: 53,597,950 (GRCm39) |
K105R |
probably benign |
Het |
| Robo2 |
C |
A |
16: 73,745,267 (GRCm39) |
R840L |
probably benign |
Het |
| Rps6ka5 |
T |
A |
12: 100,547,578 (GRCm39) |
I311F |
probably damaging |
Het |
| Ryr1 |
G |
T |
7: 28,793,667 (GRCm39) |
T1267K |
possibly damaging |
Het |
| Sis |
G |
A |
3: 72,863,482 (GRCm39) |
T252I |
probably damaging |
Het |
| Slc41a3 |
A |
T |
6: 90,612,312 (GRCm39) |
S201C |
probably damaging |
Het |
| Slitrk1 |
A |
C |
14: 109,148,735 (GRCm39) |
S659A |
probably benign |
Het |
| Snx25 |
A |
T |
8: 46,488,715 (GRCm39) |
M880K |
probably damaging |
Het |
| Tbxas1 |
C |
T |
6: 39,004,713 (GRCm39) |
T320I |
probably benign |
Het |
| Tex44 |
T |
C |
1: 86,355,489 (GRCm39) |
V466A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,897,636 (GRCm39) |
Q804* |
probably null |
Het |
| Tpst1 |
T |
A |
5: 130,131,343 (GRCm39) |
M271K |
probably benign |
Het |
| Trank1 |
C |
T |
9: 111,194,265 (GRCm39) |
T763I |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,703,462 (GRCm39) |
H729Q |
probably damaging |
Het |
| Tshz3 |
A |
T |
7: 36,469,030 (GRCm39) |
T340S |
probably damaging |
Het |
| Ttc5 |
T |
C |
14: 51,018,962 (GRCm39) |
K52E |
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Wsb2 |
T |
G |
5: 117,501,643 (GRCm39) |
|
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 |
|
|
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'- CTCAGAATGATACCTCCTACGAGC -3'
(R):5'- CATGGCTTGTTTGGACATGGAC -3'
Sequencing Primer
(F):5'- TCCTACGAGCAAAACATTTCTGGTC -3'
(R):5'- CGTGACACTGCAGCCTTG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation