Incidental Mutation 'R4212:Lrfn5'
| ID |
319262 |
| 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 |
041641-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R4212 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
61569936-61905128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 61890606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 632
(T632S)
|
| 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: T632S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000051546
Gene: ENSMUSG00000035653
AA Change: T632S
| 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: T632S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113123
Gene: ENSMUSG00000035653
AA Change: T632S
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
G |
T |
15: 60,791,585 (GRCm39) |
L284M |
possibly damaging |
Het |
| Adamts15 |
A |
G |
9: 30,817,470 (GRCm39) |
V536A |
probably damaging |
Het |
| Arsi |
A |
T |
18: 61,049,773 (GRCm39) |
I219F |
probably damaging |
Het |
| Atg7 |
G |
A |
6: 114,680,386 (GRCm39) |
G447E |
probably benign |
Het |
| Bdp1 |
T |
A |
13: 100,196,093 (GRCm39) |
H1223L |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,461,921 (GRCm39) |
M87T |
probably benign |
Het |
| Chrm3 |
T |
C |
13: 9,927,791 (GRCm39) |
D415G |
probably benign |
Het |
| Chrnb2 |
A |
T |
3: 89,668,851 (GRCm39) |
C155S |
probably damaging |
Het |
| Col6a4 |
T |
A |
9: 105,952,569 (GRCm39) |
Q443L |
probably benign |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| D5Ertd579e |
A |
T |
5: 36,771,823 (GRCm39) |
D857E |
probably damaging |
Het |
| Efcab6 |
T |
C |
15: 83,777,064 (GRCm39) |
D1124G |
probably damaging |
Het |
| F830045P16Rik |
C |
T |
2: 129,302,273 (GRCm39) |
A440T |
probably benign |
Het |
| Gc |
T |
C |
5: 89,583,434 (GRCm39) |
K370E |
probably benign |
Het |
| Gm11559 |
A |
G |
11: 99,755,726 (GRCm39) |
Q125R |
unknown |
Het |
| Gm3985 |
A |
T |
8: 33,432,484 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy2e |
A |
G |
11: 69,118,949 (GRCm39) |
F681S |
probably damaging |
Het |
| Hip1r |
A |
G |
5: 124,137,953 (GRCm39) |
I760V |
probably benign |
Het |
| Islr2 |
C |
T |
9: 58,106,603 (GRCm39) |
G219D |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,010,178 (GRCm39) |
H556R |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,926,990 (GRCm39) |
D923G |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,552,357 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
A |
G |
15: 98,742,884 (GRCm39) |
|
probably benign |
Het |
| Krtap17-1 |
A |
G |
11: 99,884,740 (GRCm39) |
L9P |
unknown |
Het |
| Lats2 |
C |
T |
14: 57,933,712 (GRCm39) |
D802N |
possibly damaging |
Het |
| Myo9a |
C |
T |
9: 59,813,349 (GRCm39) |
R2183* |
probably null |
Het |
| Myorg |
T |
C |
4: 41,498,307 (GRCm39) |
E441G |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,563,383 (GRCm39) |
|
probably null |
Het |
| Nf1 |
T |
A |
11: 79,360,624 (GRCm39) |
V1434E |
probably damaging |
Het |
| Nlrc4 |
T |
C |
17: 74,754,110 (GRCm39) |
Y91C |
possibly damaging |
Het |
| Or4l1 |
A |
T |
14: 50,166,346 (GRCm39) |
Y218* |
probably null |
Het |
| Or5b102 |
T |
G |
19: 13,041,123 (GRCm39) |
M116R |
probably damaging |
Het |
| Or5k1 |
T |
A |
16: 58,617,732 (GRCm39) |
H159L |
possibly damaging |
Het |
| Pard3 |
T |
A |
8: 128,336,939 (GRCm39) |
I1143K |
probably benign |
Het |
| Pcdha7 |
A |
G |
18: 37,108,027 (GRCm39) |
T351A |
probably benign |
Het |
| Phf2 |
C |
A |
13: 48,974,089 (GRCm39) |
G318V |
unknown |
Het |
| Plch1 |
T |
A |
3: 63,778,180 (GRCm39) |
|
probably benign |
Het |
| Polr1c |
A |
G |
17: 46,557,046 (GRCm39) |
I79T |
probably damaging |
Het |
| Ppp2r5e |
A |
G |
12: 75,516,325 (GRCm39) |
I244T |
probably damaging |
Het |
| Psmd12 |
T |
C |
11: 107,376,585 (GRCm39) |
C74R |
probably damaging |
Het |
| Qng1 |
C |
T |
13: 58,529,805 (GRCm39) |
G269E |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,786,115 (GRCm39) |
|
probably null |
Het |
| Robo3 |
C |
T |
9: 37,333,194 (GRCm39) |
G781D |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,854,954 (GRCm39) |
V147A |
possibly damaging |
Het |
| Sema3b |
C |
T |
9: 107,480,597 (GRCm39) |
V117M |
probably damaging |
Het |
| Sfxn5 |
A |
T |
6: 85,309,288 (GRCm39) |
L139* |
probably null |
Het |
| Slc2a12 |
A |
T |
10: 22,577,993 (GRCm39) |
K596N |
probably benign |
Het |
| Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
| Spata31e4 |
C |
T |
13: 50,854,388 (GRCm39) |
T82I |
possibly damaging |
Het |
| Tlr4 |
T |
A |
4: 66,758,563 (GRCm39) |
I452N |
probably damaging |
Het |
| Tshz3 |
A |
G |
7: 36,469,544 (GRCm39) |
D511G |
probably damaging |
Het |
| Usp44 |
A |
G |
10: 93,682,632 (GRCm39) |
K314E |
possibly 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 |
|
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'- AGACTAATGGGGCTCAGATGC -3'
(R):5'- ACAGTGAGAAACTTACTTGGCTTG -3'
Sequencing Primer
(F):5'- CAAGGCTGCAGTGTCACG -3'
(R):5'- AGATGTGGGCCCCTCTGTAAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation