Incidental Mutation 'R5673:Lrfn2'
| ID |
442743 |
| 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 |
043175-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5673 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
49239407-49404616 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49403625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 583
(S583P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046254]
|
| AlphaFold |
Q80TG9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046254
AA Change: S583P
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000047573
Gene: ENSMUSG00000040490
AA Change: S583P
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
A |
3: 40,877,886 (GRCm39) |
M94K |
probably damaging |
Het |
| Adam2 |
A |
G |
14: 66,306,681 (GRCm39) |
Y103H |
probably benign |
Het |
| Adamts17 |
T |
C |
7: 66,691,555 (GRCm39) |
C580R |
probably damaging |
Het |
| Aqp5 |
G |
A |
15: 99,492,046 (GRCm39) |
V98I |
probably benign |
Het |
| Brd2 |
A |
G |
17: 34,331,581 (GRCm39) |
|
probably benign |
Het |
| Cd177 |
T |
C |
7: 24,449,787 (GRCm39) |
N566S |
probably damaging |
Het |
| Cdh23 |
C |
T |
10: 60,143,636 (GRCm39) |
D2992N |
probably damaging |
Het |
| Cfap69 |
T |
C |
5: 5,646,027 (GRCm39) |
T140A |
possibly damaging |
Het |
| Cfi |
A |
G |
3: 129,648,658 (GRCm39) |
I181V |
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,962,499 (GRCm39) |
L133P |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,539,622 (GRCm39) |
L1297F |
unknown |
Het |
| Crot |
T |
C |
5: 9,038,131 (GRCm39) |
N132S |
probably benign |
Het |
| Dnah3 |
T |
A |
7: 119,550,812 (GRCm39) |
Q3169L |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 31,022,235 (GRCm39) |
M3945K |
probably damaging |
Het |
| Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
| Fam204a |
T |
C |
19: 60,188,415 (GRCm39) |
K216E |
probably damaging |
Het |
| Far2 |
A |
T |
6: 148,047,602 (GRCm39) |
S94C |
possibly damaging |
Het |
| Gm14226 |
T |
A |
2: 154,866,842 (GRCm39) |
S266R |
possibly damaging |
Het |
| Gpr137 |
A |
G |
19: 6,916,466 (GRCm39) |
F276L |
probably damaging |
Het |
| Lhx3 |
T |
C |
2: 26,093,006 (GRCm39) |
Y148C |
probably damaging |
Het |
| Lrrc40 |
A |
G |
3: 157,754,035 (GRCm39) |
|
probably null |
Het |
| Mast4 |
A |
T |
13: 102,930,580 (GRCm39) |
I224N |
probably damaging |
Het |
| Meis1 |
T |
C |
11: 18,962,812 (GRCm39) |
K161E |
probably damaging |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Mrgprb2 |
A |
T |
7: 48,202,121 (GRCm39) |
F201L |
probably benign |
Het |
| Mroh1 |
T |
A |
15: 76,314,381 (GRCm39) |
L686Q |
probably damaging |
Het |
| Mybbp1a |
G |
A |
11: 72,335,751 (GRCm39) |
V421I |
probably benign |
Het |
| Nadk |
G |
A |
4: 155,669,642 (GRCm39) |
V143I |
possibly damaging |
Het |
| Nell1 |
A |
T |
7: 49,878,594 (GRCm39) |
T272S |
probably damaging |
Het |
| Npnt |
A |
T |
3: 132,623,258 (GRCm39) |
C94S |
probably damaging |
Het |
| Olfml2b |
T |
A |
1: 170,509,698 (GRCm39) |
V682E |
probably damaging |
Het |
| Pacs2 |
G |
A |
12: 113,032,618 (GRCm39) |
V655M |
probably damaging |
Het |
| Pcdha1 |
A |
C |
18: 37,063,726 (GRCm39) |
N130T |
probably damaging |
Het |
| Resf1 |
C |
T |
6: 149,229,491 (GRCm39) |
Q846* |
probably null |
Het |
| Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,257,105 (GRCm39) |
S566P |
probably damaging |
Het |
| Sirpa |
T |
G |
2: 129,472,022 (GRCm39) |
V483G |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 144,062,206 (GRCm39) |
R149G |
probably damaging |
Het |
| Tbc1d4 |
A |
G |
14: 101,692,444 (GRCm39) |
S1007P |
probably damaging |
Het |
| Tnfrsf8 |
A |
G |
4: 145,011,905 (GRCm39) |
F317L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,547,389 (GRCm39) |
K32219R |
probably damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,630 (GRCm39) |
T11S |
possibly damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,596,615 (GRCm39) |
L147I |
probably benign |
Het |
| Vmn2r77 |
C |
T |
7: 86,461,214 (GRCm39) |
H847Y |
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 |
|
|
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'- CAGTCTATGCACAGTCAGATCCTG -3'
(R):5'- AGGCAAAGGCTCCCATCAAG -3'
Sequencing Primer
(F):5'- TAATCCTCATGGTGCGGT -3'
(R):5'- TCCCATCAAGCGGTCAAGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation