Incidental Mutation 'R6087:Lrfn2'
| ID |
484625 |
| 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 |
044244-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6087 (G1)
|
| Quality Score |
116.008 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
49239407-49404616 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49378154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 412
(S412G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046254]
|
| AlphaFold |
Q80TG9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046254
AA Change: S412G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047573
Gene: ENSMUSG00000040490
AA Change: S412G
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.2%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 88,119,621 (GRCm39) |
K126R |
possibly damaging |
Het |
| Adam7 |
A |
T |
14: 68,748,206 (GRCm39) |
C548S |
probably damaging |
Het |
| Adar |
C |
A |
3: 89,652,897 (GRCm39) |
H260N |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,258,828 (GRCm39) |
E775G |
probably benign |
Het |
| Arhgap35 |
T |
C |
7: 16,297,568 (GRCm39) |
Y499C |
probably damaging |
Het |
| Bank1 |
A |
G |
3: 135,772,190 (GRCm39) |
L480P |
probably damaging |
Het |
| Cep135 |
G |
T |
5: 76,763,638 (GRCm39) |
|
probably null |
Het |
| Cnga1 |
G |
T |
5: 72,768,155 (GRCm39) |
A177E |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,432,658 (GRCm39) |
D1221V |
probably damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,648,205 (GRCm39) |
Y36C |
possibly damaging |
Het |
| Dock8 |
C |
A |
19: 25,138,438 (GRCm39) |
N1254K |
probably benign |
Het |
| Elapor2 |
T |
C |
5: 9,449,255 (GRCm39) |
S128P |
probably damaging |
Het |
| Fam13b |
C |
T |
18: 34,620,192 (GRCm39) |
V231I |
possibly damaging |
Het |
| Fbxo8 |
T |
A |
8: 57,022,353 (GRCm39) |
Y122N |
probably damaging |
Het |
| Fmo2 |
T |
A |
1: 162,708,002 (GRCm39) |
I378F |
probably benign |
Het |
| Golga3 |
A |
T |
5: 110,352,812 (GRCm39) |
Q861L |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Ighv3-8 |
G |
T |
12: 114,286,000 (GRCm39) |
A114E |
probably damaging |
Het |
| Itga3 |
C |
T |
11: 94,943,269 (GRCm39) |
|
probably null |
Het |
| Kank1 |
G |
A |
19: 25,387,088 (GRCm39) |
V254I |
probably benign |
Het |
| Lipo5 |
A |
T |
19: 33,443,375 (GRCm39) |
I147K |
unknown |
Het |
| Lrrn3 |
T |
C |
12: 41,503,534 (GRCm39) |
N261S |
possibly damaging |
Het |
| Mical2 |
C |
T |
7: 111,917,692 (GRCm39) |
Q350* |
probably null |
Het |
| Nras |
T |
C |
3: 102,967,637 (GRCm39) |
F78L |
probably damaging |
Het |
| Nudt9 |
A |
G |
5: 104,198,679 (GRCm39) |
I65V |
probably benign |
Het |
| Or10ag59 |
A |
G |
2: 87,406,259 (GRCm39) |
D277G |
probably benign |
Het |
| Or4f17-ps1 |
A |
T |
2: 111,358,526 (GRCm39) |
E289V |
possibly damaging |
Het |
| Oscar |
G |
A |
7: 3,614,311 (GRCm39) |
P143S |
probably benign |
Het |
| Pla2g4d |
C |
T |
2: 120,100,487 (GRCm39) |
G615D |
probably damaging |
Het |
| Plekha1 |
T |
G |
7: 130,502,301 (GRCm39) |
S175A |
probably benign |
Het |
| Psg27 |
T |
C |
7: 18,290,869 (GRCm39) |
K445E |
probably benign |
Het |
| Rad51c |
A |
G |
11: 87,271,705 (GRCm39) |
Y318H |
probably benign |
Het |
| Ret |
G |
T |
6: 118,153,252 (GRCm39) |
T472K |
possibly damaging |
Het |
| Tarbp1 |
T |
C |
8: 127,155,709 (GRCm39) |
D1343G |
probably benign |
Het |
| Top2b |
C |
A |
14: 16,409,864 (GRCm38) |
R844S |
probably benign |
Het |
| Vmn1r171 |
T |
A |
7: 23,332,429 (GRCm39) |
M218K |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,695,033 (GRCm39) |
|
probably null |
Het |
| Zc3h13 |
T |
A |
14: 75,568,149 (GRCm39) |
D1147E |
probably damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,409,135 (GRCm39) |
L1703H |
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 |
|
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 |
|
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'- ACTGCTGTATATGACAATGGCAC -3'
(R):5'- CTCACCTGTAGATCAGCACCTC -3'
Sequencing Primer
(F):5'- CTGTATATGACAATGGCACCCTGG -3'
(R):5'- TGTAGATCAGCACCTCATCATCAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation