Incidental Mutation 'R6224:Lrfn2'
| ID |
504226 |
| 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 |
044355-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6224 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
49239407-49404616 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49403379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 501
(T501A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046254]
|
| AlphaFold |
Q80TG9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046254
AA Change: T501A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047573
Gene: ENSMUSG00000040490
AA Change: T501A
| 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 |
0.2358 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (55/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
A |
C |
11: 99,728,840 (GRCm39) |
M1R |
probably null |
Het |
| 4930505A04Rik |
A |
C |
11: 30,404,815 (GRCm39) |
N29K |
probably benign |
Het |
| Adamtsl4 |
T |
C |
3: 95,589,039 (GRCm39) |
Y464C |
probably damaging |
Het |
| Asgr2 |
T |
C |
11: 69,989,072 (GRCm39) |
V172A |
probably damaging |
Het |
| Atad1 |
T |
C |
19: 32,676,028 (GRCm39) |
Y132C |
probably damaging |
Het |
| Bpifa6 |
G |
A |
2: 153,829,073 (GRCm39) |
R200H |
probably damaging |
Het |
| Brd1 |
A |
T |
15: 88,572,558 (GRCm39) |
M1171K |
possibly damaging |
Het |
| Cadm2 |
A |
T |
16: 66,461,281 (GRCm39) |
L392Q |
probably damaging |
Het |
| Ccdc183 |
C |
T |
2: 25,500,594 (GRCm39) |
E333K |
possibly damaging |
Het |
| Cenpe |
T |
C |
3: 134,949,536 (GRCm39) |
I1335T |
possibly damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,745,460 (GRCm39) |
N122D |
probably benign |
Het |
| Crls1 |
T |
A |
2: 132,691,770 (GRCm39) |
|
probably null |
Het |
| Cyp46a1 |
T |
C |
12: 108,327,819 (GRCm39) |
F460S |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dcps |
T |
A |
9: 35,047,777 (GRCm39) |
T128S |
probably benign |
Het |
| Dcun1d3 |
A |
T |
7: 119,458,714 (GRCm39) |
L107* |
probably null |
Het |
| Eml1 |
T |
C |
12: 108,480,767 (GRCm39) |
F397S |
probably damaging |
Het |
| Fanca |
T |
A |
8: 124,032,020 (GRCm39) |
H348L |
possibly damaging |
Het |
| Foxo1 |
T |
A |
3: 52,253,093 (GRCm39) |
S419T |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,899,730 (GRCm39) |
V1039A |
probably benign |
Het |
| Gng14 |
A |
T |
8: 85,794,220 (GRCm39) |
*73R |
probably null |
Het |
| Gp6 |
A |
T |
7: 4,397,211 (GRCm39) |
F75I |
probably benign |
Het |
| Gpha2 |
T |
A |
19: 6,277,142 (GRCm39) |
I81N |
possibly damaging |
Het |
| Gspt1 |
C |
A |
16: 11,042,406 (GRCm39) |
V493L |
probably benign |
Het |
| Igsf10 |
C |
A |
3: 59,232,931 (GRCm39) |
C1934F |
probably damaging |
Het |
| Irgm1 |
T |
C |
11: 48,757,713 (GRCm39) |
T49A |
probably benign |
Het |
| Klc4 |
A |
G |
17: 46,950,988 (GRCm39) |
I207T |
possibly damaging |
Het |
| Krt1 |
A |
T |
15: 101,758,702 (GRCm39) |
V154D |
possibly damaging |
Het |
| Lama1 |
T |
C |
17: 68,109,982 (GRCm39) |
V2201A |
possibly damaging |
Het |
| Lilrb4a |
T |
A |
10: 51,367,745 (GRCm39) |
Y96N |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,051,618 (GRCm39) |
I378T |
probably damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,905,810 (GRCm39) |
M1T |
probably null |
Het |
| Nsd1 |
T |
C |
13: 55,460,945 (GRCm39) |
S2391P |
possibly damaging |
Het |
| Ogdhl |
G |
A |
14: 32,064,018 (GRCm39) |
G647D |
probably benign |
Het |
| Or5p57 |
T |
C |
7: 107,665,949 (GRCm39) |
I19V |
probably benign |
Het |
| Or6c76b |
A |
G |
10: 129,693,061 (GRCm39) |
K225E |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,772,068 (GRCm39) |
H387Q |
probably benign |
Het |
| Pdgfrb |
C |
A |
18: 61,215,011 (GRCm39) |
Y1013* |
probably null |
Het |
| Pitrm1 |
T |
C |
13: 6,615,090 (GRCm39) |
V562A |
probably damaging |
Het |
| Pnpla8 |
T |
C |
12: 44,329,811 (GRCm39) |
V121A |
possibly damaging |
Het |
| Psd4 |
T |
C |
2: 24,291,569 (GRCm39) |
L639P |
probably damaging |
Het |
| Psmc3 |
G |
T |
2: 90,884,975 (GRCm39) |
R47L |
probably damaging |
Het |
| Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
| Sesn2 |
A |
G |
4: 132,229,881 (GRCm39) |
V50A |
probably benign |
Het |
| Skic3 |
C |
T |
13: 76,266,410 (GRCm39) |
T219M |
probably benign |
Het |
| Slc6a16 |
G |
A |
7: 44,910,572 (GRCm39) |
G377S |
probably damaging |
Het |
| Slitrk1 |
A |
G |
14: 109,149,454 (GRCm39) |
F419S |
probably damaging |
Het |
| Slitrk5 |
GACTAC |
GACTACTAC |
14: 111,917,248 (GRCm39) |
|
probably benign |
Het |
| Spata31d1a |
T |
A |
13: 59,854,134 (GRCm39) |
|
probably benign |
Homo |
| Tgoln1 |
A |
T |
6: 72,592,984 (GRCm39) |
D165E |
possibly damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,821,266 (GRCm39) |
T492S |
probably benign |
Het |
| Zc3h13 |
T |
A |
14: 75,574,849 (GRCm39) |
M1565K |
probably damaging |
Het |
| Zcwpw1 |
T |
C |
5: 137,810,298 (GRCm39) |
V358A |
possibly damaging |
Het |
| Zfp607a |
A |
G |
7: 27,578,007 (GRCm39) |
H359R |
probably damaging |
Het |
| Zzef1 |
T |
A |
11: 72,746,209 (GRCm39) |
V837E |
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 |
|
R6087:Lrfn2
|
UTSW |
17 |
49,378,154 (GRCm39) |
missense |
probably benign |
|
|
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'- CTATTACTCTATATCTGCCTGGGG -3'
(R):5'- GTACACATTGCTGACAGTGGC -3'
Sequencing Primer
(F):5'- ATATCTGCCTGGGGTTTCTCC -3'
(R):5'- GTTGCAGACCTTGTACCGCAC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation