Incidental Mutation 'R6342:Lrfn2'
ID |
513933 |
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 |
044496-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6342 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
49239407-49404616 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 49404028 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 717
(G717D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047573
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046254]
|
AlphaFold |
Q80TG9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046254
AA Change: G717D
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000047573 Gene: ENSMUSG00000040490 AA Change: G717D
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200509
|
Meta Mutation Damage Score |
0.0670 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
Validation Efficiency |
97% (31/32) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa9 |
T |
C |
3: 95,204,101 (GRCm39) |
*346W |
probably null |
Het |
Ap4b1 |
T |
C |
3: 103,720,684 (GRCm39) |
V118A |
possibly damaging |
Het |
Atrnl1 |
T |
C |
19: 57,626,942 (GRCm39) |
S183P |
probably damaging |
Het |
Cadm3 |
T |
C |
1: 173,168,675 (GRCm39) |
T298A |
possibly damaging |
Het |
Crtc1 |
A |
C |
8: 70,892,207 (GRCm39) |
M1R |
probably null |
Het |
Dalrd3 |
A |
T |
9: 108,448,322 (GRCm39) |
K291* |
probably null |
Het |
Dhrs9 |
C |
T |
2: 69,223,531 (GRCm39) |
T93M |
probably benign |
Het |
Dnmt1 |
G |
T |
9: 20,821,089 (GRCm39) |
S1267* |
probably null |
Het |
Dsg1b |
T |
C |
18: 20,523,300 (GRCm39) |
I109T |
probably damaging |
Het |
Epha3 |
C |
A |
16: 63,403,863 (GRCm39) |
R745L |
probably damaging |
Het |
Evi2 |
A |
G |
11: 79,406,784 (GRCm39) |
S264P |
probably benign |
Het |
Grin2a |
A |
T |
16: 9,397,198 (GRCm39) |
L963Q |
probably damaging |
Het |
Klhdc7a |
T |
A |
4: 139,694,370 (GRCm39) |
R192S |
probably benign |
Het |
Kynu |
G |
T |
2: 43,571,463 (GRCm39) |
D460Y |
probably benign |
Het |
Lrp3 |
C |
T |
7: 34,901,731 (GRCm39) |
D696N |
probably benign |
Het |
Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
Or51a5 |
T |
C |
7: 102,771,563 (GRCm39) |
T143A |
probably damaging |
Het |
Rad17 |
A |
T |
13: 100,755,644 (GRCm39) |
I579N |
probably damaging |
Het |
Rif1 |
T |
A |
2: 52,009,168 (GRCm39) |
Y2316N |
probably damaging |
Het |
Ros1 |
T |
A |
10: 52,031,351 (GRCm39) |
D430V |
probably damaging |
Het |
Rp9 |
A |
T |
9: 22,361,154 (GRCm39) |
H44Q |
probably damaging |
Het |
Rtl1 |
T |
C |
12: 109,558,735 (GRCm39) |
T1035A |
possibly damaging |
Het |
Slc2a5 |
A |
C |
4: 150,223,983 (GRCm39) |
D225A |
possibly damaging |
Het |
Tlx3 |
A |
T |
11: 33,152,567 (GRCm39) |
V176E |
possibly damaging |
Het |
Trpv3 |
G |
A |
11: 73,174,689 (GRCm39) |
G352D |
probably damaging |
Het |
Ubr4 |
C |
A |
4: 139,156,850 (GRCm39) |
H2292N |
possibly damaging |
Het |
Wee2 |
A |
G |
6: 40,421,189 (GRCm39) |
H93R |
probably benign |
Het |
Xirp2 |
T |
G |
2: 67,341,994 (GRCm39) |
L1412V |
possibly damaging |
Het |
Zfat |
T |
C |
15: 68,052,831 (GRCm39) |
H321R |
probably damaging |
Het |
Zfp623 |
C |
A |
15: 75,819,837 (GRCm39) |
C264* |
probably null |
Het |
Zfp687 |
G |
C |
3: 94,919,188 (GRCm39) |
P195A |
probably benign |
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 |
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 |
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'- TTGATGGGAGCCTTTGCCTC -3'
(R):5'- ACAAATACTTGCCAGTGCTGAC -3'
Sequencing Primer
(F):5'- TCCCTGGACCTCAAGAGTC -3'
(R):5'- ACTCTGAGCTGCCAAATGTC -3'
|
Posted On |
2018-04-27 |