Incidental Mutation 'R8224:Lrfn5'
| ID |
636902 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrfn5
|
| Ensembl Gene |
ENSMUSG00000035653 |
| Gene Name |
leucine rich repeat and fibronectin type III domain containing 5 |
| Synonyms |
|
| MMRRC Submission |
067660-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R8224 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
61569936-61905128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 61890192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 494
(I494F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055815]
[ENSMUST00000119481]
|
| AlphaFold |
Q8BXA0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055815
AA Change: I494F
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000051546
Gene: ENSMUSG00000035653
AA Change: I494F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LRRNT
|
19 |
55 |
1.11e1 |
SMART |
|
LRR
|
74 |
97 |
3.07e-1 |
SMART |
|
LRR_TYP
|
98 |
121 |
1.2e-3 |
SMART |
|
LRR_TYP
|
122 |
145 |
8.94e-3 |
SMART |
|
LRR
|
146 |
169 |
6.58e0 |
SMART |
|
LRR_TYP
|
170 |
193 |
8.34e-3 |
SMART |
|
LRR
|
194 |
218 |
2.47e1 |
SMART |
|
LRRCT
|
240 |
285 |
1.65e-2 |
SMART |
|
IGc2
|
299 |
364 |
3.53e-13 |
SMART |
|
low complexity region
|
393 |
412 |
N/A |
INTRINSIC |
|
Blast:FN3
|
414 |
495 |
2e-48 |
BLAST |
|
transmembrane domain
|
528 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
613 |
627 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119481
AA Change: I494F
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113123
Gene: ENSMUSG00000035653
AA Change: I494F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LRRNT
|
19 |
55 |
1.11e1 |
SMART |
|
LRR
|
74 |
97 |
3.07e-1 |
SMART |
|
LRR_TYP
|
98 |
121 |
1.2e-3 |
SMART |
|
LRR_TYP
|
122 |
145 |
8.94e-3 |
SMART |
|
LRR
|
146 |
169 |
6.58e0 |
SMART |
|
LRR_TYP
|
170 |
193 |
8.34e-3 |
SMART |
|
LRR
|
194 |
218 |
2.47e1 |
SMART |
|
LRRCT
|
240 |
285 |
1.65e-2 |
SMART |
|
IGc2
|
299 |
364 |
3.53e-13 |
SMART |
|
low complexity region
|
393 |
412 |
N/A |
INTRINSIC |
|
Blast:FN3
|
414 |
495 |
2e-48 |
BLAST |
|
transmembrane domain
|
528 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
613 |
627 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.3%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
T |
10: 29,094,249 (GRCm39) |
E45V |
probably damaging |
Het |
| Adamts9 |
A |
T |
6: 92,773,351 (GRCm39) |
V1754D |
probably damaging |
Het |
| Ankrd26 |
G |
A |
6: 118,502,716 (GRCm39) |
T818M |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,888,632 (GRCm39) |
E242G |
possibly damaging |
Het |
| Cdh20 |
G |
T |
1: 109,921,933 (GRCm39) |
L8F |
probably benign |
Het |
| Cenpa |
T |
C |
5: 30,830,699 (GRCm39) |
|
probably benign |
Het |
| Cfap61 |
T |
C |
2: 145,781,800 (GRCm39) |
V11A |
probably benign |
Het |
| Chfr |
T |
A |
5: 110,308,109 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
A |
T |
15: 55,271,137 (GRCm39) |
Y630F |
unknown |
Het |
| Cst5 |
A |
G |
2: 149,251,902 (GRCm39) |
N126D |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,354,688 (GRCm39) |
T1903A |
probably benign |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Gon4l |
A |
G |
3: 88,802,449 (GRCm39) |
E1020G |
probably damaging |
Het |
| Gp1ba |
A |
G |
11: 70,530,683 (GRCm39) |
N150D |
unknown |
Het |
| Gstm2 |
T |
C |
3: 107,891,314 (GRCm39) |
I169V |
probably benign |
Het |
| Ighv1-75 |
A |
T |
12: 115,797,859 (GRCm39) |
V21D |
probably benign |
Het |
| Il7 |
T |
C |
3: 7,642,308 (GRCm39) |
M51V |
possibly damaging |
Het |
| Insm2 |
A |
T |
12: 55,646,763 (GRCm39) |
D169V |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,080,628 (GRCm39) |
D373G |
noncoding transcript |
Het |
| Kif16b |
T |
C |
2: 142,676,008 (GRCm39) |
N431D |
probably benign |
Het |
| Kmt2a |
A |
C |
9: 44,719,326 (GRCm39) |
I3925S |
unknown |
Het |
| Lgi4 |
G |
A |
7: 30,763,017 (GRCm39) |
C164Y |
probably damaging |
Het |
| Map9 |
T |
C |
3: 82,266,370 (GRCm39) |
I5T |
probably benign |
Het |
| Ncf2 |
T |
C |
1: 152,706,144 (GRCm39) |
V252A |
possibly damaging |
Het |
| Nlrp4g |
A |
T |
9: 124,353,374 (GRCm38) |
I573F |
noncoding transcript |
Het |
| Nrn1 |
G |
A |
13: 36,918,258 (GRCm39) |
L3F |
probably damaging |
Het |
| Or1ab2 |
A |
G |
8: 72,864,223 (GRCm39) |
D271G |
noncoding transcript |
Het |
| Or2d2 |
T |
A |
7: 106,728,079 (GRCm39) |
I174F |
probably damaging |
Het |
| Or5h24 |
A |
T |
16: 58,919,117 (GRCm39) |
D79E |
unknown |
Het |
| Or6c8 |
A |
G |
10: 128,915,304 (GRCm39) |
F176S |
possibly damaging |
Het |
| Otop1 |
C |
A |
5: 38,457,846 (GRCm39) |
T535K |
possibly damaging |
Het |
| Pacs2 |
A |
G |
12: 113,023,380 (GRCm39) |
T333A |
probably damaging |
Het |
| Pax3 |
T |
C |
1: 78,098,327 (GRCm39) |
Y354C |
probably damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,320,348 (GRCm39) |
S1448P |
probably damaging |
Het |
| Pias4 |
C |
A |
10: 81,003,565 (GRCm39) |
|
probably benign |
Het |
| Ppp1r12b |
T |
C |
1: 134,830,200 (GRCm39) |
N113S |
probably benign |
Het |
| Ptpn12 |
G |
T |
5: 21,203,656 (GRCm39) |
P374Q |
probably damaging |
Het |
| Reg4 |
A |
T |
3: 98,132,011 (GRCm39) |
|
probably benign |
Het |
| Sh3bp5 |
T |
C |
14: 31,099,473 (GRCm39) |
D256G |
probably damaging |
Het |
| Slc25a32 |
C |
G |
15: 38,976,015 (GRCm39) |
|
probably benign |
Het |
| Tnip2 |
C |
T |
5: 34,671,003 (GRCm39) |
R80Q |
possibly damaging |
Het |
| Uroc1 |
A |
G |
6: 90,321,049 (GRCm39) |
|
probably null |
Het |
| Washc2 |
A |
C |
6: 116,218,457 (GRCm39) |
K634T |
probably damaging |
Het |
| Xpot |
A |
T |
10: 121,443,513 (GRCm39) |
Y405N |
probably damaging |
Het |
| Yes1 |
T |
C |
5: 32,816,417 (GRCm39) |
Y365H |
probably benign |
Het |
| Zfp607a |
A |
T |
7: 27,577,536 (GRCm39) |
E202V |
probably damaging |
Het |
| Zfp932 |
T |
C |
5: 110,144,480 (GRCm39) |
|
probably benign |
Het |
| Zfp947 |
A |
C |
17: 22,364,363 (GRCm39) |
M437R |
probably benign |
Het |
| Zscan10 |
A |
G |
17: 23,828,366 (GRCm39) |
T303A |
probably benign |
Het |
|
| Other mutations in Lrfn5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Lrfn5
|
APN |
12 |
61,890,912 (GRCm39) |
missense |
probably benign |
|
|
IGL02010:Lrfn5
|
APN |
12 |
61,886,469 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03033:Lrfn5
|
APN |
12 |
61,886,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03094:Lrfn5
|
APN |
12 |
61,886,532 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03207:Lrfn5
|
APN |
12 |
61,890,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
falstaffian
|
UTSW |
12 |
61,890,348 (GRCm39) |
missense |
probably benign |
0.21 |
|
PIT4696001:Lrfn5
|
UTSW |
12 |
61,890,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0402:Lrfn5
|
UTSW |
12 |
61,886,803 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0738:Lrfn5
|
UTSW |
12 |
61,887,378 (GRCm39) |
nonsense |
probably null |
|
|
R0744:Lrfn5
|
UTSW |
12 |
61,886,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0833:Lrfn5
|
UTSW |
12 |
61,886,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Lrfn5
|
UTSW |
12 |
61,890,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Lrfn5
|
UTSW |
12 |
61,890,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:Lrfn5
|
UTSW |
12 |
61,890,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1073:Lrfn5
|
UTSW |
12 |
61,887,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1332:Lrfn5
|
UTSW |
12 |
61,904,314 (GRCm39) |
splice site |
probably benign |
|
|
R1500:Lrfn5
|
UTSW |
12 |
61,886,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2039:Lrfn5
|
UTSW |
12 |
61,887,109 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3834:Lrfn5
|
UTSW |
12 |
61,886,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4171:Lrfn5
|
UTSW |
12 |
61,890,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4212:Lrfn5
|
UTSW |
12 |
61,890,606 (GRCm39) |
missense |
probably benign |
|
|
R4394:Lrfn5
|
UTSW |
12 |
61,890,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4578:Lrfn5
|
UTSW |
12 |
61,890,763 (GRCm39) |
missense |
probably benign |
|
|
R4661:Lrfn5
|
UTSW |
12 |
61,886,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4730:Lrfn5
|
UTSW |
12 |
61,887,505 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4955:Lrfn5
|
UTSW |
12 |
61,886,764 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4968:Lrfn5
|
UTSW |
12 |
61,886,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Lrfn5
|
UTSW |
12 |
61,886,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5078:Lrfn5
|
UTSW |
12 |
61,890,660 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5165:Lrfn5
|
UTSW |
12 |
61,886,410 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5768:Lrfn5
|
UTSW |
12 |
61,886,509 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5892:Lrfn5
|
UTSW |
12 |
61,890,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6133:Lrfn5
|
UTSW |
12 |
61,890,574 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6211:Lrfn5
|
UTSW |
12 |
61,886,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6297:Lrfn5
|
UTSW |
12 |
61,890,348 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6341:Lrfn5
|
UTSW |
12 |
61,890,368 (GRCm39) |
nonsense |
probably null |
|
|
R6861:Lrfn5
|
UTSW |
12 |
61,886,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7179:Lrfn5
|
UTSW |
12 |
61,890,768 (GRCm39) |
missense |
probably benign |
|
|
R7392:Lrfn5
|
UTSW |
12 |
61,887,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8261:Lrfn5
|
UTSW |
12 |
61,886,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9528:Lrfn5
|
UTSW |
12 |
61,886,408 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9641:Lrfn5
|
UTSW |
12 |
61,886,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Lrfn5
|
UTSW |
12 |
61,890,418 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9653:Lrfn5
|
UTSW |
12 |
61,890,418 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Lrfn5
|
UTSW |
12 |
61,886,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGACCTAAAGCCATAATGACTTTG -3'
(R):5'- CGTTGCTAACCTTCGTGACC -3'
Sequencing Primer
(F):5'- GCCATAATGACTTTGCGTATATGTG -3'
(R):5'- GTGTTGCCCATTATTGTTACAAACC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation