Incidental Mutation 'R1245:Lrfn2'
ID |
152143 |
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 |
039312-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1245 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
49239407-49404616 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 49403277 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047573
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046254]
|
AlphaFold |
Q80TG9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000046254
|
SMART Domains |
Protein: ENSMUSP00000047573 Gene: ENSMUSG00000040490
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 |
0.9481 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.5%
|
Validation Efficiency |
98% (41/42) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
T |
A |
11: 7,119,410 (GRCm39) |
|
probably benign |
Het |
Ahnak |
A |
G |
19: 8,981,533 (GRCm39) |
N939S |
probably benign |
Het |
Cblb |
C |
A |
16: 51,867,550 (GRCm39) |
|
probably benign |
Het |
Cd22 |
A |
G |
7: 30,569,308 (GRCm39) |
S603P |
probably damaging |
Het |
Col6a6 |
G |
A |
9: 105,626,109 (GRCm39) |
R1515C |
possibly damaging |
Het |
Csf1r |
C |
A |
18: 61,247,884 (GRCm39) |
D317E |
probably benign |
Het |
Dlg2 |
T |
C |
7: 92,091,803 (GRCm39) |
|
probably benign |
Het |
Enpp3 |
G |
A |
10: 24,660,851 (GRCm39) |
|
probably benign |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Gm5828 |
A |
T |
1: 16,839,353 (GRCm39) |
|
noncoding transcript |
Het |
Gpr137c |
T |
C |
14: 45,516,522 (GRCm39) |
|
probably benign |
Het |
Ibtk |
A |
G |
9: 85,602,795 (GRCm39) |
|
probably null |
Het |
Kctd7 |
A |
G |
5: 130,177,058 (GRCm39) |
H96R |
possibly damaging |
Het |
Lmcd1 |
T |
A |
6: 112,292,673 (GRCm39) |
V175E |
probably benign |
Het |
Ltbp1 |
C |
T |
17: 75,634,189 (GRCm39) |
|
probably benign |
Het |
Myc |
A |
G |
15: 61,859,746 (GRCm39) |
I140V |
probably damaging |
Het |
Nckap1l |
A |
G |
15: 103,364,352 (GRCm39) |
E100G |
probably damaging |
Het |
Ncs1 |
A |
G |
2: 31,174,705 (GRCm39) |
N143S |
probably benign |
Het |
Nmnat2 |
A |
G |
1: 152,987,949 (GRCm39) |
D238G |
probably benign |
Het |
Or10ag57 |
T |
A |
2: 87,218,553 (GRCm39) |
V168E |
probably benign |
Het |
Ppp2r3d |
G |
A |
9: 101,071,593 (GRCm39) |
T675I |
probably damaging |
Het |
Psma2 |
A |
G |
13: 14,787,876 (GRCm39) |
Y6C |
probably damaging |
Het |
Rspo4 |
G |
A |
2: 151,709,846 (GRCm39) |
E84K |
probably damaging |
Het |
Shank2 |
G |
A |
7: 143,965,457 (GRCm39) |
V1015I |
probably benign |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Smg8 |
T |
C |
11: 86,974,436 (GRCm39) |
D632G |
possibly damaging |
Het |
Sppl2a |
A |
T |
2: 126,755,441 (GRCm39) |
|
probably benign |
Het |
Svep1 |
A |
G |
4: 58,066,427 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,776,044 (GRCm39) |
K1666M |
probably damaging |
Het |
Ulk1 |
A |
G |
5: 110,937,206 (GRCm39) |
|
probably null |
Het |
Unc80 |
A |
G |
1: 66,594,254 (GRCm39) |
D1211G |
possibly damaging |
Het |
Vmn2r112 |
A |
G |
17: 22,822,228 (GRCm39) |
Q302R |
probably benign |
Het |
Vmn2r6 |
A |
G |
3: 64,464,211 (GRCm39) |
S208P |
possibly damaging |
Het |
Wnk1 |
C |
T |
6: 119,925,418 (GRCm39) |
V1847I |
probably benign |
Het |
Zfp653 |
A |
T |
9: 21,967,718 (GRCm39) |
I529N |
probably damaging |
Het |
Zfp948 |
T |
C |
17: 21,807,104 (GRCm39) |
S99P |
probably damaging |
Het |
Zfyve9 |
A |
G |
4: 108,550,508 (GRCm39) |
|
probably benign |
Het |
Zscan29 |
T |
C |
2: 120,996,984 (GRCm39) |
T246A |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTACCAGACCTGGAGAAGGTGCTC -3'
(R):5'- GGCCACAATGATACCTCCGATGAC -3'
Sequencing Primer
(F):5'- actcttccctctcctctccc -3'
(R):5'- TGATACCTCCGATGACCAGAATC -3'
|
Posted On |
2014-01-29 |