Incidental Mutation 'R5900:Lrfn2'
| ID |
456299 |
| 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 |
044099-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5900 (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 49377291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 124
(V124A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046254]
|
| AlphaFold |
Q80TG9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046254
AA Change: V124A
PolyPhen 2
Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047573
Gene: ENSMUSG00000040490
AA Change: V124A
| 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: 99.4%
- 10x: 97.3%
- 20x: 91.9%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,169,982 (GRCm39) |
T1341S |
possibly damaging |
Het |
| Abcc12 |
T |
C |
8: 87,293,149 (GRCm39) |
D13G |
possibly damaging |
Het |
| Adam24 |
T |
C |
8: 41,134,071 (GRCm39) |
V513A |
probably benign |
Het |
| Adgrg6 |
C |
T |
10: 14,314,163 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
T |
C |
8: 123,617,805 (GRCm39) |
T1995A |
probably benign |
Het |
| Apoh |
G |
T |
11: 108,302,843 (GRCm39) |
K269N |
probably damaging |
Het |
| Bahcc1 |
C |
T |
11: 120,175,319 (GRCm39) |
L1798F |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,464,597 (GRCm39) |
C1454S |
probably benign |
Het |
| Clip2 |
T |
C |
5: 134,531,633 (GRCm39) |
D689G |
possibly damaging |
Het |
| Cpa5 |
T |
C |
6: 30,615,115 (GRCm39) |
V84A |
probably damaging |
Het |
| Ctsh |
T |
C |
9: 89,946,621 (GRCm39) |
I116T |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,199,515 (GRCm39) |
E1463V |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,046,166 (GRCm39) |
|
probably null |
Het |
| Dstyk |
G |
A |
1: 132,384,717 (GRCm39) |
R737Q |
probably damaging |
Het |
| Galr1 |
A |
G |
18: 82,411,982 (GRCm39) |
S295P |
probably damaging |
Het |
| Gpx2 |
A |
G |
12: 76,839,653 (GRCm39) |
V115A |
probably damaging |
Het |
| Hhipl2 |
A |
G |
1: 183,207,597 (GRCm39) |
I219V |
possibly damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,244,445 (GRCm39) |
M214V |
possibly damaging |
Het |
| Lrrcc1 |
T |
G |
3: 14,627,186 (GRCm39) |
S704R |
possibly damaging |
Het |
| Marveld2 |
T |
C |
13: 100,748,176 (GRCm39) |
Y301C |
probably damaging |
Het |
| Mcpt8 |
T |
C |
14: 56,319,740 (GRCm39) |
I237V |
probably damaging |
Het |
| Mtus1 |
A |
T |
8: 41,536,534 (GRCm39) |
V394D |
possibly damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,978,265 (GRCm39) |
D821E |
probably benign |
Het |
| Pcdh9 |
T |
C |
14: 93,564,156 (GRCm39) |
D1058G |
probably damaging |
Het |
| Pld2 |
G |
A |
11: 70,446,888 (GRCm39) |
|
probably null |
Het |
| Prdm2 |
A |
G |
4: 142,861,290 (GRCm39) |
S667P |
probably damaging |
Het |
| Ptgdr2 |
A |
T |
19: 10,918,352 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
C |
T |
9: 72,524,538 (GRCm39) |
T576I |
probably benign |
Het |
| Safb |
T |
C |
17: 56,907,349 (GRCm39) |
C426R |
unknown |
Het |
| Serpina9 |
G |
A |
12: 103,975,130 (GRCm39) |
R8* |
probably null |
Het |
| Shank3 |
G |
A |
15: 89,387,593 (GRCm39) |
R254Q |
probably damaging |
Het |
| Simc1 |
T |
C |
13: 54,694,837 (GRCm39) |
V306A |
probably damaging |
Het |
| Srfbp1 |
A |
G |
18: 52,621,853 (GRCm39) |
T305A |
probably benign |
Het |
| Tdrd5 |
A |
T |
1: 156,105,005 (GRCm39) |
C463* |
probably null |
Het |
| Tmem132d |
A |
T |
5: 128,346,336 (GRCm39) |
L62Q |
probably damaging |
Het |
| Trank1 |
T |
A |
9: 111,220,784 (GRCm39) |
L2507H |
probably damaging |
Het |
| Usp45 |
T |
C |
4: 21,830,451 (GRCm39) |
V702A |
probably damaging |
Het |
| Wnk2 |
A |
G |
13: 49,256,308 (GRCm39) |
I271T |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,805,125 (GRCm39) |
L2640I |
probably damaging |
Het |
| Znrf3 |
G |
T |
11: 5,232,110 (GRCm39) |
H468N |
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 |
|
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'- GGCAACTTCATCATCCACATTGG -3'
(R):5'- AGCCGATTGGATGTGAGGTC -3'
Sequencing Primer
(F):5'- TTGGCCGCCAAGACTTTG -3'
(R):5'- AGCAGATTGTGGTCCAGACTC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation