Incidental Mutation 'IGL01989:Lrfn2'
| ID |
182808 |
| 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 # |
IGL01989
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
49239407-49404616 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49378113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 398
(D398G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046254]
|
| AlphaFold |
Q80TG9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046254
AA Change: D398G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047573
Gene: ENSMUSG00000040490
AA Change: D398G
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
T |
10: 28,862,266 (GRCm39) |
V8D |
probably damaging |
Het |
| Asb15 |
A |
G |
6: 24,565,943 (GRCm39) |
T299A |
probably damaging |
Het |
| Asph |
A |
T |
4: 9,602,462 (GRCm39) |
|
probably benign |
Het |
| Cadm3 |
G |
A |
1: 173,165,578 (GRCm39) |
|
probably benign |
Het |
| Cep164 |
G |
A |
9: 45,704,313 (GRCm39) |
|
probably benign |
Het |
| Ces2c |
C |
A |
8: 105,576,375 (GRCm39) |
N129K |
probably damaging |
Het |
| Chdh |
C |
A |
14: 29,753,688 (GRCm39) |
P199Q |
possibly damaging |
Het |
| Dnah7b |
T |
C |
1: 46,328,694 (GRCm39) |
V3142A |
probably damaging |
Het |
| Dnmbp |
A |
G |
19: 43,855,994 (GRCm39) |
L254P |
probably damaging |
Het |
| Dock2 |
G |
T |
11: 34,218,053 (GRCm39) |
N1172K |
probably benign |
Het |
| Dppa5a |
T |
A |
9: 78,275,103 (GRCm39) |
E66D |
probably benign |
Het |
| F5 |
A |
G |
1: 164,003,876 (GRCm39) |
S224G |
probably benign |
Het |
| Fign |
T |
C |
2: 63,810,794 (GRCm39) |
T159A |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,824,211 (GRCm39) |
D6648V |
probably damaging |
Het |
| Gbp2b |
A |
T |
3: 142,317,201 (GRCm39) |
E519V |
probably benign |
Het |
| Hdac10 |
A |
G |
15: 89,009,546 (GRCm39) |
L462P |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 53,879,951 (GRCm39) |
L1286S |
probably damaging |
Het |
| Hnrnpll |
A |
G |
17: 80,346,169 (GRCm39) |
V364A |
probably benign |
Het |
| Hnrnpul2 |
A |
G |
19: 8,800,992 (GRCm39) |
T282A |
probably damaging |
Het |
| Il12a |
T |
A |
3: 68,598,909 (GRCm39) |
|
probably benign |
Het |
| Insl5 |
C |
A |
4: 102,883,838 (GRCm39) |
V28L |
probably benign |
Het |
| Kcnj3 |
G |
A |
2: 55,327,243 (GRCm39) |
D11N |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,413,998 (GRCm39) |
D1137N |
probably damaging |
Het |
| Mettl18 |
C |
A |
1: 163,823,872 (GRCm39) |
D64E |
probably benign |
Het |
| Mrpl3 |
A |
G |
9: 104,948,678 (GRCm39) |
T245A |
probably benign |
Het |
| Mrps18c |
C |
A |
5: 100,949,775 (GRCm39) |
P52Q |
probably damaging |
Het |
| Myh3 |
A |
T |
11: 66,977,481 (GRCm39) |
D377V |
probably damaging |
Het |
| N4bp1 |
C |
A |
8: 87,575,115 (GRCm39) |
V727L |
probably damaging |
Het |
| Npffr2 |
A |
G |
5: 89,730,831 (GRCm39) |
T254A |
probably benign |
Het |
| Nsfl1c |
C |
A |
2: 151,342,649 (GRCm39) |
T73K |
probably damaging |
Het |
| Or8a1b |
C |
T |
9: 37,623,132 (GRCm39) |
V148I |
probably damaging |
Het |
| Plxna1 |
C |
T |
6: 89,306,396 (GRCm39) |
W1442* |
probably null |
Het |
| Serpina3n |
T |
A |
12: 104,379,750 (GRCm39) |
M381K |
probably benign |
Het |
| Shank3 |
C |
T |
15: 89,387,502 (GRCm39) |
|
probably benign |
Het |
| Smtnl1 |
T |
C |
2: 84,648,814 (GRCm39) |
N147D |
probably benign |
Het |
| Sprr2j-ps |
T |
C |
3: 92,326,412 (GRCm39) |
S96P |
unknown |
Het |
| Ssh2 |
A |
G |
11: 77,344,511 (GRCm39) |
E832G |
possibly damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,702,076 (GRCm39) |
D207G |
probably benign |
Het |
| Sult1c2 |
A |
T |
17: 54,281,055 (GRCm39) |
M16K |
probably benign |
Het |
| Tmem247 |
A |
G |
17: 87,225,719 (GRCm39) |
E53G |
probably damaging |
Het |
| Tmem86a |
A |
T |
7: 46,703,187 (GRCm39) |
I105F |
probably benign |
Het |
| Tph2 |
A |
G |
10: 114,981,921 (GRCm39) |
S304P |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,608,883 (GRCm39) |
D17711G |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,566,474 (GRCm39) |
|
probably benign |
Het |
| Vcan |
T |
A |
13: 89,837,478 (GRCm39) |
I1729L |
possibly damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,933,494 (GRCm39) |
Y351* |
probably null |
Het |
| Wfdc5 |
C |
T |
2: 164,020,651 (GRCm39) |
|
probably null |
Het |
| Wnt3 |
G |
A |
11: 103,703,233 (GRCm39) |
D239N |
probably benign |
Het |
| Zbtb8b |
T |
A |
4: 129,326,181 (GRCm39) |
E295V |
probably damaging |
Het |
| Zfp458 |
T |
C |
13: 67,407,691 (GRCm39) |
T52A |
probably damaging |
Het |
|
| Other mutations in Lrfn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01612:Lrfn2
|
APN |
17 |
49,377,425 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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 |
2014-05-07 |
Incidental Mutation