Incidental Mutation 'R3711:Lrfn2'
ID |
259629 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrfn2
|
Ensembl Gene |
ENSMUSG00000040490 |
Gene Name |
leucine rich repeat and fibronectin type III domain containing 2 |
Synonyms |
5730420O05Rik, SALM1 |
MMRRC Submission |
040704-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3711 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
49239407-49404616 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 49378188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 423
(E423G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047573
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046254]
|
AlphaFold |
Q80TG9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046254
AA Change: E423G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000047573 Gene: ENSMUSG00000040490 AA Change: E423G
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 |
|
Meta Mutation Damage Score |
0.1522 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
98% (51/52) |
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 |
Abca8b |
A |
G |
11: 109,837,081 (GRCm39) |
V1138A |
possibly damaging |
Het |
Adgrv1 |
A |
T |
13: 81,567,594 (GRCm39) |
I5193K |
probably benign |
Het |
Adnp |
A |
T |
2: 168,026,743 (GRCm39) |
I184N |
probably damaging |
Het |
Ahnak |
T |
G |
19: 8,985,262 (GRCm39) |
V2182G |
probably benign |
Het |
Aif1l |
T |
A |
2: 31,859,763 (GRCm39) |
F94L |
probably damaging |
Het |
Aspm |
G |
A |
1: 139,385,838 (GRCm39) |
G494D |
probably benign |
Het |
Atic |
T |
A |
1: 71,617,738 (GRCm39) |
S563T |
probably benign |
Het |
Bahcc1 |
A |
T |
11: 120,165,923 (GRCm39) |
I1060F |
probably benign |
Het |
Cd27 |
A |
G |
6: 125,210,281 (GRCm39) |
Y189H |
probably damaging |
Het |
Dnm2 |
C |
A |
9: 21,417,669 (GRCm39) |
|
probably benign |
Het |
Exo1 |
A |
G |
1: 175,721,395 (GRCm39) |
T345A |
probably benign |
Het |
Fbf1 |
T |
C |
11: 116,052,299 (GRCm39) |
H53R |
possibly damaging |
Het |
Fbf1 |
A |
G |
11: 116,054,179 (GRCm39) |
I29T |
probably damaging |
Het |
Gm14399 |
G |
A |
2: 174,973,303 (GRCm39) |
R151* |
probably null |
Het |
Gsdma |
T |
A |
11: 98,557,045 (GRCm39) |
Y53* |
probably null |
Het |
Hid1 |
A |
T |
11: 115,249,601 (GRCm39) |
L208Q |
probably damaging |
Het |
Kif4-ps |
A |
G |
12: 101,112,312 (GRCm39) |
E147G |
probably damaging |
Het |
Kif7 |
A |
T |
7: 79,360,640 (GRCm39) |
V245D |
probably benign |
Het |
Klhdc4 |
A |
G |
8: 122,524,794 (GRCm39) |
V378A |
probably benign |
Het |
Lrp4 |
T |
A |
2: 91,332,299 (GRCm39) |
N1665K |
probably benign |
Het |
Mast3 |
C |
A |
8: 71,232,251 (GRCm39) |
R1242L |
probably benign |
Het |
Mon1b |
T |
C |
8: 114,365,779 (GRCm39) |
M369T |
possibly damaging |
Het |
Mta3 |
A |
G |
17: 84,070,417 (GRCm39) |
I193V |
probably damaging |
Het |
Narf |
G |
T |
11: 121,137,764 (GRCm39) |
E224* |
probably null |
Het |
Nedd4l |
G |
A |
18: 65,342,790 (GRCm39) |
V909I |
possibly damaging |
Het |
Nmnat3 |
T |
A |
9: 98,292,276 (GRCm39) |
Y108N |
probably damaging |
Het |
Npr2 |
A |
T |
4: 43,643,378 (GRCm39) |
Y534F |
probably benign |
Het |
Obox5 |
A |
T |
7: 15,492,713 (GRCm39) |
M223L |
probably benign |
Het |
Optc |
A |
T |
1: 133,832,819 (GRCm39) |
S94T |
probably benign |
Het |
Or10al5 |
T |
A |
17: 38,063,271 (GRCm39) |
C175* |
probably null |
Het |
Or1l4 |
A |
G |
2: 37,091,285 (GRCm39) |
T11A |
probably benign |
Het |
Or5d47 |
A |
T |
2: 87,804,066 (GRCm39) |
N314K |
probably benign |
Het |
Or6c206 |
A |
T |
10: 129,097,093 (GRCm39) |
K88* |
probably null |
Het |
Or8w1 |
T |
C |
2: 87,466,025 (GRCm39) |
D22G |
probably benign |
Het |
Rbm27 |
T |
C |
18: 42,425,177 (GRCm39) |
|
probably benign |
Het |
Spopl |
C |
T |
2: 23,427,392 (GRCm39) |
R221Q |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,702,572 (GRCm39) |
L423P |
probably damaging |
Het |
Sun5 |
A |
G |
2: 153,709,468 (GRCm39) |
V74A |
probably benign |
Het |
Tanc2 |
A |
G |
11: 105,689,516 (GRCm39) |
Y226C |
probably damaging |
Het |
Tlr6 |
T |
C |
5: 65,111,152 (GRCm39) |
D585G |
possibly damaging |
Het |
Tmt1a3 |
A |
T |
15: 100,232,961 (GRCm39) |
M51L |
probably benign |
Het |
Tnrc6c |
A |
G |
11: 117,613,950 (GRCm39) |
T863A |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
Wt1 |
G |
A |
2: 104,993,773 (GRCm39) |
|
probably benign |
Het |
Ythdc2 |
C |
T |
18: 44,966,240 (GRCm39) |
L159F |
probably damaging |
Het |
Zc3h6 |
A |
G |
2: 128,859,251 (GRCm39) |
N1094S |
probably benign |
Het |
Zdbf2 |
T |
C |
1: 63,347,830 (GRCm39) |
S2070P |
possibly damaging |
Het |
Zfp648 |
T |
A |
1: 154,080,304 (GRCm39) |
S154R |
probably benign |
Het |
Zfp748 |
A |
G |
13: 67,688,915 (GRCm39) |
C782R |
probably damaging |
Het |
Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGACCCTTTACCTGCATCG -3'
(R):5'- GGAACAGTTGACCCAGGATC -3'
Sequencing Primer
(F):5'- CAATGCAGCAGGAGAGGCTAC -3'
(R):5'- ACAGGCTCTAGCTTCCCAG -3'
|
Posted On |
2015-01-23 |