Incidental Mutation 'R8375:Lrfn2'
| ID |
646651 |
| 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 |
067743-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8375 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
49239407-49404616 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49403851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 658
(M658K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046254]
|
| AlphaFold |
Q80TG9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046254
AA Change: M658K
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000047573
Gene: ENSMUSG00000040490
AA Change: M658K
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,265,416 (GRCm39) |
F3030L |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,347,841 (GRCm39) |
I3565F |
probably damaging |
Het |
| Ak7 |
A |
T |
12: 105,708,600 (GRCm39) |
I352F |
probably damaging |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Anapc7 |
C |
T |
5: 122,566,342 (GRCm39) |
P84S |
probably benign |
Het |
| Apol7a |
A |
T |
15: 77,273,547 (GRCm39) |
I305N |
probably damaging |
Het |
| Asf1b |
C |
T |
8: 84,694,559 (GRCm39) |
R108C |
probably damaging |
Het |
| Bicd1 |
A |
T |
6: 149,421,989 (GRCm39) |
E903D |
probably benign |
Het |
| Bpifb3 |
A |
T |
2: 153,767,715 (GRCm39) |
I263F |
probably benign |
Het |
| Cavin3 |
T |
A |
7: 105,130,228 (GRCm39) |
S195C |
probably damaging |
Het |
| Chsy3 |
C |
A |
18: 59,312,585 (GRCm39) |
R353S |
probably damaging |
Het |
| Col5a2 |
A |
G |
1: 45,481,890 (GRCm39) |
V78A |
unknown |
Het |
| Cpxm1 |
C |
T |
2: 130,236,146 (GRCm39) |
E339K |
probably damaging |
Het |
| Cyp26c1 |
G |
T |
19: 37,675,660 (GRCm39) |
A175S |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,327,489 (GRCm39) |
T2069S |
probably benign |
Het |
| Ednrb |
A |
G |
14: 104,057,383 (GRCm39) |
F393S |
probably damaging |
Het |
| Fstl4 |
T |
C |
11: 53,053,502 (GRCm39) |
S385P |
possibly damaging |
Het |
| Gabpb2 |
G |
A |
3: 95,112,109 (GRCm39) |
S40L |
probably damaging |
Het |
| Gabrb1 |
T |
C |
5: 72,187,172 (GRCm39) |
I155T |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,873,731 (GRCm39) |
N1668Y |
probably benign |
Het |
| Kcnh1 |
A |
G |
1: 192,117,124 (GRCm39) |
H670R |
probably damaging |
Het |
| Krt31 |
G |
A |
11: 99,938,603 (GRCm39) |
A330V |
probably benign |
Het |
| Lrrc1 |
T |
A |
9: 77,365,129 (GRCm39) |
N184I |
probably damaging |
Het |
| Lrrc69 |
T |
C |
4: 14,795,994 (GRCm39) |
I18V |
probably benign |
Het |
| Lvrn |
G |
A |
18: 46,983,289 (GRCm39) |
V11M |
probably damaging |
Het |
| Map4k4 |
T |
C |
1: 40,063,801 (GRCm39) |
S1199P |
possibly damaging |
Het |
| Mib1 |
T |
C |
18: 10,768,233 (GRCm39) |
|
probably null |
Het |
| Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
| Myo18b |
C |
T |
5: 112,908,259 (GRCm39) |
V2005I |
possibly damaging |
Het |
| Myo6 |
T |
A |
9: 80,162,206 (GRCm39) |
H314Q |
unknown |
Het |
| Nat8f6 |
A |
C |
6: 85,785,888 (GRCm39) |
M87R |
probably benign |
Het |
| Net1 |
A |
G |
13: 3,943,458 (GRCm39) |
|
probably benign |
Het |
| Notch4 |
C |
T |
17: 34,787,228 (GRCm39) |
T294I |
possibly damaging |
Het |
| Nrros |
A |
G |
16: 31,966,456 (GRCm39) |
L36P |
probably damaging |
Het |
| Or8b12i |
T |
C |
9: 20,082,037 (GRCm39) |
M277V |
probably benign |
Het |
| Or8c9 |
G |
C |
9: 38,241,231 (GRCm39) |
W113S |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,525,407 (GRCm39) |
H202R |
probably damaging |
Het |
| Pik3ap1 |
A |
T |
19: 41,316,538 (GRCm39) |
M284K |
probably damaging |
Het |
| Prr27 |
C |
A |
5: 87,990,710 (GRCm39) |
Y107* |
probably null |
Het |
| Rab5c |
G |
T |
11: 100,607,609 (GRCm39) |
N188K |
probably damaging |
Het |
| Rlf |
A |
T |
4: 121,005,532 (GRCm39) |
S1259R |
probably damaging |
Het |
| Rrm2 |
T |
C |
12: 24,762,751 (GRCm39) |
V298A |
probably damaging |
Het |
| Rtn4rl2 |
A |
T |
2: 84,711,033 (GRCm39) |
L77H |
possibly damaging |
Het |
| Skint4 |
A |
G |
4: 111,975,173 (GRCm39) |
I44M |
probably damaging |
Het |
| Spaca7 |
T |
C |
8: 12,648,998 (GRCm39) |
I164T |
probably benign |
Het |
| Spg7 |
A |
G |
8: 123,800,568 (GRCm39) |
S153G |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,123,786 (GRCm39) |
S358P |
probably benign |
Het |
| Stx5a |
T |
C |
19: 8,732,462 (GRCm39) |
M377T |
unknown |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,599,844 (GRCm39) |
D1048G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,557,509 (GRCm39) |
W29862R |
probably damaging |
Het |
| Vmn1r203 |
T |
G |
13: 22,709,154 (GRCm39) |
*312G |
probably null |
Het |
| Vmn2r74 |
T |
G |
7: 85,601,914 (GRCm39) |
T575P |
possibly damaging |
Het |
| Zfp14 |
A |
T |
7: 29,738,579 (GRCm39) |
N135K |
possibly 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 |
|
|
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 |
|
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'- AATGTGTACTCGCAGACCAATG -3'
(R):5'- AAAAGAGTGGCTTCGTTTGGC -3'
Sequencing Primer
(F):5'- AATGGGTCTCAGCCTCCAC -3'
(R):5'- GCTTCGTTTGGCCTTGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation