Incidental Mutation 'R6408:Lrfn2'
| ID |
514562 |
| 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 |
044553-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6408 (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 49377654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 245
(H245R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046254]
|
| AlphaFold |
Q80TG9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046254
AA Change: H245R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047573
Gene: ENSMUSG00000040490
AA Change: H245R
| 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: 99.9%
- 10x: 99.3%
- 20x: 97.2%
|
| Validation Efficiency |
94% (45/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
T |
C |
5: 107,691,858 (GRCm39) |
S50P |
probably damaging |
Het |
| 4930407I10Rik |
T |
C |
15: 81,949,307 (GRCm39) |
V1068A |
possibly damaging |
Het |
| Acss1 |
A |
G |
2: 150,470,412 (GRCm39) |
|
probably null |
Het |
| Amer2 |
T |
C |
14: 60,617,674 (GRCm39) |
I497T |
probably damaging |
Het |
| Azi2 |
A |
T |
9: 117,890,550 (GRCm39) |
R51* |
probably null |
Het |
| Brdt |
A |
G |
5: 107,533,358 (GRCm39) |
D946G |
probably damaging |
Het |
| Bzw2 |
C |
T |
12: 36,157,524 (GRCm39) |
V314I |
possibly damaging |
Het |
| Capn13 |
A |
T |
17: 73,672,954 (GRCm39) |
Y116* |
probably null |
Het |
| Clca4b |
A |
G |
3: 144,625,036 (GRCm39) |
I485T |
probably benign |
Het |
| Crybg3 |
T |
A |
16: 59,316,053 (GRCm39) |
T1130S |
possibly damaging |
Het |
| Cubn |
C |
T |
2: 13,299,014 (GRCm39) |
V3220M |
probably damaging |
Het |
| Cyp4f16 |
T |
A |
17: 32,770,173 (GRCm39) |
L514Q |
probably damaging |
Het |
| D7Ertd443e |
G |
T |
7: 133,951,440 (GRCm39) |
Q31K |
probably benign |
Het |
| Dcaf15 |
T |
C |
8: 84,831,355 (GRCm39) |
E8G |
probably benign |
Het |
| Ddx24 |
A |
C |
12: 103,391,819 (GRCm39) |
|
probably benign |
Het |
| Diaph3 |
T |
C |
14: 87,066,430 (GRCm39) |
M988V |
possibly damaging |
Het |
| Dlx4 |
A |
G |
11: 95,036,078 (GRCm39) |
V77A |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,522,191 (GRCm39) |
|
probably null |
Het |
| Drc1 |
A |
G |
5: 30,513,632 (GRCm39) |
E396G |
probably benign |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Gbp2b |
T |
C |
3: 142,323,899 (GRCm39) |
L568S |
probably benign |
Het |
| Gjb5 |
A |
T |
4: 127,249,940 (GRCm39) |
F68Y |
probably benign |
Het |
| Hs6st3 |
C |
A |
14: 119,376,046 (GRCm39) |
P74T |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,745,133 (GRCm39) |
L1743P |
probably damaging |
Het |
| Lnx1 |
A |
T |
5: 74,846,307 (GRCm39) |
C48S |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 138,798,184 (GRCm39) |
E93G |
probably benign |
Het |
| Mettl6 |
T |
C |
14: 31,201,683 (GRCm39) |
E253G |
probably damaging |
Het |
| Nmu |
A |
T |
5: 76,491,818 (GRCm39) |
F106Y |
probably damaging |
Het |
| Pcsk7 |
T |
C |
9: 45,820,994 (GRCm39) |
I142T |
probably benign |
Het |
| Polr3a |
A |
T |
14: 24,536,939 (GRCm39) |
|
probably null |
Het |
| Psmb9 |
G |
T |
17: 34,404,707 (GRCm39) |
A19E |
probably damaging |
Het |
| Pus7l |
A |
G |
15: 94,429,456 (GRCm39) |
M454T |
probably benign |
Het |
| Raet1e |
A |
G |
10: 22,056,645 (GRCm39) |
T74A |
probably benign |
Het |
| Ralb |
A |
C |
1: 119,405,839 (GRCm39) |
Y43* |
probably null |
Het |
| Ralgapa1 |
C |
A |
12: 55,730,695 (GRCm39) |
E1947* |
probably null |
Het |
| Rnf26rt |
A |
G |
6: 76,473,441 (GRCm39) |
C392R |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,768,934 (GRCm39) |
Y500H |
probably benign |
Het |
| Shroom1 |
A |
C |
11: 53,354,214 (GRCm39) |
T45P |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,142,328 (GRCm39) |
|
probably benign |
Het |
| Spmip2 |
A |
G |
3: 79,356,706 (GRCm39) |
R170G |
probably benign |
Het |
| Srgap3 |
T |
C |
6: 112,699,967 (GRCm39) |
S1004G |
probably damaging |
Het |
| Taok2 |
A |
G |
7: 126,470,164 (GRCm39) |
V888A |
probably benign |
Het |
| Tbc1d8 |
T |
A |
1: 39,441,980 (GRCm39) |
D204V |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,666,643 (GRCm39) |
I388M |
probably benign |
Het |
| Trav7d-4 |
C |
A |
14: 53,007,624 (GRCm39) |
A39D |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 187,999,229 (GRCm39) |
E180* |
probably null |
Het |
| Vmn1r37 |
A |
G |
6: 66,708,563 (GRCm39) |
D63G |
probably benign |
Het |
| Zfp282 |
G |
A |
6: 47,857,319 (GRCm39) |
R184Q |
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 |
|
|
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 |
|
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'- TCTGGACCACAATCTGCTGG -3'
(R):5'- CCAATGGCCTTGCACTTAAGAG -3'
Sequencing Primer
(F):5'- AATCTGCTGGACCACATTGCTG -3'
(R):5'- ACTTAAGAGTGGCTGCCTGGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation