Incidental Mutation 'IGL01612:Lrfn2'
| ID |
92149 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrfn2
|
| Ensembl Gene |
ENSMUSG00000040490 |
| Gene Name |
leucine rich repeat and fibronectin type III domain containing 2 |
| Synonyms |
5730420O05Rik, SALM1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01612
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
49239407-49404616 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 49377425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 169
(V169L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046254]
|
| AlphaFold |
Q80TG9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046254
AA Change: V169L
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047573
Gene: ENSMUSG00000040490
AA Change: V169L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
LRRNT
|
20 |
56 |
2.9e0 |
SMART |
|
LRR
|
75 |
98 |
7.36e0 |
SMART |
|
LRR_TYP
|
99 |
122 |
1.1e-2 |
SMART |
|
LRR_TYP
|
123 |
146 |
2.2e-2 |
SMART |
|
LRR
|
148 |
171 |
4.45e1 |
SMART |
|
LRR_TYP
|
172 |
195 |
1.56e-2 |
SMART |
|
LRR
|
196 |
220 |
1.06e1 |
SMART |
|
LRRCT
|
242 |
287 |
5.53e-4 |
SMART |
|
IGc2
|
301 |
366 |
8e-12 |
SMART |
|
low complexity region
|
401 |
415 |
N/A |
INTRINSIC |
|
FN3
|
420 |
500 |
1.52e-1 |
SMART |
|
transmembrane domain
|
533 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
613 |
654 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit small spleens, small or no thymi, impaired T cell development, and decreased T cell proliferation in response to mitogen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,381,988 (GRCm39) |
T1326A |
possibly damaging |
Het |
| Afg3l1 |
C |
T |
8: 124,221,592 (GRCm39) |
R484C |
probably benign |
Het |
| Atg2a |
C |
A |
19: 6,302,514 (GRCm39) |
Q946K |
probably benign |
Het |
| Cdh20 |
T |
C |
1: 104,921,895 (GRCm39) |
Y731H |
probably benign |
Het |
| Cdk15 |
A |
G |
1: 59,328,932 (GRCm39) |
D282G |
possibly damaging |
Het |
| Ctnnd2 |
T |
C |
15: 31,005,164 (GRCm39) |
S1073P |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,355,889 (GRCm39) |
|
probably benign |
Het |
| Evi2a |
T |
A |
11: 79,417,978 (GRCm39) |
R211W |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,661,168 (GRCm39) |
I372F |
probably benign |
Het |
| Glyctk |
T |
C |
9: 106,032,471 (GRCm39) |
D514G |
probably damaging |
Het |
| Gmnc |
G |
A |
16: 26,779,069 (GRCm39) |
Q313* |
probably null |
Het |
| Grik1 |
T |
C |
16: 87,743,623 (GRCm39) |
T520A |
probably damaging |
Het |
| Gtsf2 |
A |
T |
15: 103,353,340 (GRCm39) |
C9S |
probably damaging |
Het |
| Ift80 |
T |
G |
3: 68,870,996 (GRCm39) |
N200T |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,742,047 (GRCm39) |
S1771P |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,683,484 (GRCm39) |
T2769A |
possibly damaging |
Het |
| Mei1 |
G |
A |
15: 81,973,753 (GRCm39) |
R80H |
probably damaging |
Het |
| Nbeal2 |
A |
T |
9: 110,473,746 (GRCm39) |
V31E |
probably damaging |
Het |
| Ncapd2 |
G |
T |
6: 125,154,835 (GRCm39) |
P546T |
probably benign |
Het |
| Or52l1 |
A |
G |
7: 104,829,929 (GRCm39) |
V212A |
probably damaging |
Het |
| Pan3 |
T |
C |
5: 147,390,052 (GRCm39) |
|
probably benign |
Het |
| Rab3b |
T |
A |
4: 108,781,223 (GRCm39) |
|
probably null |
Het |
| Rabl2 |
T |
C |
15: 89,467,615 (GRCm39) |
K119E |
probably benign |
Het |
| Reln |
A |
G |
5: 22,101,928 (GRCm39) |
V3334A |
probably damaging |
Het |
| Rfx1 |
A |
G |
8: 84,819,601 (GRCm39) |
|
probably null |
Het |
| Rhod |
T |
C |
19: 4,476,247 (GRCm39) |
Y168C |
probably damaging |
Het |
| Sag |
T |
C |
1: 87,733,071 (GRCm39) |
I13T |
probably damaging |
Het |
| Sat2 |
T |
C |
11: 69,513,789 (GRCm39) |
|
probably null |
Het |
| Scn5a |
A |
T |
9: 119,315,091 (GRCm39) |
D1872E |
possibly damaging |
Het |
| Sh2b2 |
T |
G |
5: 136,260,656 (GRCm39) |
I187L |
probably benign |
Het |
| Slit3 |
G |
A |
11: 35,591,211 (GRCm39) |
G1341D |
possibly damaging |
Het |
| Tmed11 |
A |
T |
5: 108,927,750 (GRCm39) |
S95T |
possibly damaging |
Het |
| Tmem186 |
A |
G |
16: 8,453,733 (GRCm39) |
V176A |
possibly damaging |
Het |
| Trim12c |
A |
T |
7: 103,997,422 (GRCm39) |
S45T |
possibly damaging |
Het |
| Ube4b |
C |
A |
4: 149,468,275 (GRCm39) |
R167L |
probably damaging |
Het |
| Zfp335 |
A |
T |
2: 164,752,540 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Lrfn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01989:Lrfn2
|
APN |
17 |
49,378,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03324:Lrfn2
|
APN |
17 |
49,377,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02991:Lrfn2
|
UTSW |
17 |
49,377,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0306:Lrfn2
|
UTSW |
17 |
49,403,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0539:Lrfn2
|
UTSW |
17 |
49,378,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1245:Lrfn2
|
UTSW |
17 |
49,403,277 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1414:Lrfn2
|
UTSW |
17 |
49,377,857 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1437:Lrfn2
|
UTSW |
17 |
49,378,253 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1670:Lrfn2
|
UTSW |
17 |
49,403,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2358:Lrfn2
|
UTSW |
17 |
49,378,188 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3711:Lrfn2
|
UTSW |
17 |
49,378,188 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3712:Lrfn2
|
UTSW |
17 |
49,378,188 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4521:Lrfn2
|
UTSW |
17 |
49,376,922 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R4532:Lrfn2
|
UTSW |
17 |
49,377,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Lrfn2
|
UTSW |
17 |
49,377,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5062:Lrfn2
|
UTSW |
17 |
49,377,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5066:Lrfn2
|
UTSW |
17 |
49,403,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5348:Lrfn2
|
UTSW |
17 |
49,403,718 (GRCm39) |
missense |
probably benign |
|
|
R5673:Lrfn2
|
UTSW |
17 |
49,403,625 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5900:Lrfn2
|
UTSW |
17 |
49,377,291 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6014:Lrfn2
|
UTSW |
17 |
49,376,934 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6087:Lrfn2
|
UTSW |
17 |
49,378,154 (GRCm39) |
missense |
probably benign |
|
|
R6224:Lrfn2
|
UTSW |
17 |
49,403,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6229:Lrfn2
|
UTSW |
17 |
49,404,160 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6342:Lrfn2
|
UTSW |
17 |
49,404,028 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6408:Lrfn2
|
UTSW |
17 |
49,377,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7026:Lrfn2
|
UTSW |
17 |
49,404,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7505:Lrfn2
|
UTSW |
17 |
49,403,479 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7852:Lrfn2
|
UTSW |
17 |
49,376,972 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7918:Lrfn2
|
UTSW |
17 |
49,378,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8375:Lrfn2
|
UTSW |
17 |
49,403,851 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8733:Lrfn2
|
UTSW |
17 |
49,403,824 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8828:Lrfn2
|
UTSW |
17 |
49,404,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8872:Lrfn2
|
UTSW |
17 |
49,378,277 (GRCm39) |
nonsense |
probably null |
|
|
R8892:Lrfn2
|
UTSW |
17 |
49,377,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9135:Lrfn2
|
UTSW |
17 |
49,376,976 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9358:Lrfn2
|
UTSW |
17 |
49,403,530 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9661:Lrfn2
|
UTSW |
17 |
49,403,650 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Lrfn2
|
UTSW |
17 |
49,403,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Lrfn2
|
UTSW |
17 |
49,377,123 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Lrfn2
|
UTSW |
17 |
49,377,040 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation