Incidental Mutation 'R0974:Lrfn5'
ID |
83037 |
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 |
039103-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R0974 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
61569936-61905128 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 61890223 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 504
(G504D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113123
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055815]
[ENSMUST00000119481]
|
AlphaFold |
Q8BXA0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055815
AA Change: G504D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000051546 Gene: ENSMUSG00000035653 AA Change: G504D
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 |
probably damaging
Transcript: ENSMUST00000119481
AA Change: G504D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113123 Gene: ENSMUSG00000035653 AA Change: G504D
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 |
|
Meta Mutation Damage Score |
0.6708 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.5%
- 20x: 91.9%
|
Validation Efficiency |
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503L19Rik |
T |
A |
18: 70,600,997 (GRCm39) |
|
probably null |
Het |
Adam18 |
T |
C |
8: 25,137,869 (GRCm39) |
T324A |
probably benign |
Het |
AI429214 |
A |
G |
8: 37,461,473 (GRCm39) |
Q207R |
probably benign |
Het |
Atp13a1 |
T |
C |
8: 70,254,794 (GRCm39) |
|
probably null |
Het |
Atp6v0a1 |
T |
A |
11: 100,946,317 (GRCm39) |
L770* |
probably null |
Het |
B3gnt5 |
T |
A |
16: 19,588,760 (GRCm39) |
D326E |
probably damaging |
Het |
Btbd9 |
T |
A |
17: 30,518,607 (GRCm39) |
D451V |
probably damaging |
Het |
Cd46 |
T |
C |
1: 194,724,300 (GRCm39) |
*366W |
probably null |
Het |
Cdcp3 |
T |
C |
7: 130,839,911 (GRCm39) |
L611P |
probably damaging |
Het |
Cenpc1 |
A |
T |
5: 86,185,767 (GRCm39) |
V248E |
probably damaging |
Het |
Chd2 |
A |
G |
7: 73,128,412 (GRCm39) |
S858P |
probably damaging |
Het |
Cxcl1 |
A |
T |
5: 91,039,626 (GRCm39) |
K85* |
probably null |
Het |
Daam1 |
A |
C |
12: 71,962,558 (GRCm39) |
K90T |
unknown |
Het |
Dip2c |
G |
A |
13: 9,626,944 (GRCm39) |
A632T |
probably damaging |
Het |
Dmtf1 |
T |
A |
5: 9,177,987 (GRCm39) |
I391F |
possibly damaging |
Het |
Dnah14 |
T |
C |
1: 181,579,710 (GRCm39) |
V3081A |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,896,663 (GRCm39) |
|
probably null |
Het |
Efemp1 |
A |
G |
11: 28,804,538 (GRCm39) |
E22G |
probably damaging |
Het |
Ephb6 |
A |
G |
6: 41,591,038 (GRCm39) |
D65G |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,807,436 (GRCm39) |
T1252S |
probably benign |
Het |
Golga4 |
T |
C |
9: 118,366,341 (GRCm39) |
I365T |
probably damaging |
Het |
Gp2 |
A |
T |
7: 119,053,766 (GRCm39) |
L65Q |
probably damaging |
Het |
Ice1 |
C |
A |
13: 70,750,546 (GRCm39) |
V1847L |
probably benign |
Het |
Kbtbd7 |
A |
G |
14: 79,664,870 (GRCm39) |
E234G |
possibly damaging |
Het |
Khsrp |
T |
C |
17: 57,332,576 (GRCm39) |
T235A |
probably benign |
Het |
Klk13 |
T |
C |
7: 43,370,582 (GRCm39) |
|
probably null |
Het |
Map6 |
G |
A |
7: 98,985,950 (GRCm39) |
G821D |
possibly damaging |
Het |
Myh13 |
T |
A |
11: 67,223,346 (GRCm39) |
I222N |
probably damaging |
Het |
Myh7b |
G |
A |
2: 155,462,347 (GRCm39) |
C350Y |
probably benign |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Olfm3 |
C |
A |
3: 114,895,635 (GRCm39) |
S172R |
probably benign |
Het |
Or13e8 |
A |
G |
4: 43,696,706 (GRCm39) |
S156P |
probably damaging |
Het |
Or1j14 |
A |
G |
2: 36,418,020 (GRCm39) |
I199V |
probably benign |
Het |
Or4c1 |
A |
T |
2: 89,133,528 (GRCm39) |
I136N |
probably damaging |
Het |
Or5d40 |
A |
T |
2: 88,015,322 (GRCm39) |
T34S |
probably benign |
Het |
Pacs1 |
A |
T |
19: 5,193,857 (GRCm39) |
D557E |
probably damaging |
Het |
Phactr2 |
T |
C |
10: 13,122,883 (GRCm39) |
D343G |
possibly damaging |
Het |
Pkd2l2 |
A |
G |
18: 34,561,305 (GRCm39) |
T438A |
probably damaging |
Het |
Pld2 |
T |
C |
11: 70,447,907 (GRCm39) |
W857R |
probably damaging |
Het |
Rilpl1 |
A |
G |
5: 124,639,951 (GRCm39) |
I122T |
possibly damaging |
Het |
Rilpl1 |
A |
G |
5: 124,639,934 (GRCm39) |
S156P |
probably benign |
Het |
Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
Saxo2 |
A |
G |
7: 82,284,078 (GRCm39) |
V260A |
probably benign |
Het |
Slc33a1 |
A |
G |
3: 63,850,725 (GRCm39) |
F533S |
probably benign |
Het |
Slc38a4 |
C |
T |
15: 96,903,739 (GRCm39) |
V421M |
probably benign |
Het |
Snx14 |
A |
G |
9: 88,282,774 (GRCm39) |
|
probably null |
Het |
Sri |
A |
T |
5: 8,109,381 (GRCm39) |
Q55L |
probably damaging |
Het |
Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
Tm9sf1 |
T |
C |
14: 55,880,392 (GRCm39) |
T2A |
possibly damaging |
Het |
Tmco5 |
A |
G |
2: 116,713,699 (GRCm39) |
T122A |
probably benign |
Het |
Tmem59l |
G |
A |
8: 70,938,710 (GRCm39) |
P124S |
possibly damaging |
Het |
Trpv6 |
T |
A |
6: 41,602,122 (GRCm39) |
T396S |
probably benign |
Het |
Usp24 |
T |
A |
4: 106,228,276 (GRCm39) |
Y780* |
probably null |
Het |
Usp24 |
A |
G |
4: 106,270,875 (GRCm39) |
|
probably null |
Het |
Utp25 |
A |
T |
1: 192,797,011 (GRCm39) |
N573K |
probably damaging |
Het |
Vmn2r53 |
A |
G |
7: 12,335,319 (GRCm39) |
F114L |
probably damaging |
Het |
Zfp626 |
G |
A |
7: 27,517,907 (GRCm39) |
R296H |
probably damaging |
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 |
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 |
R8224:Lrfn5
|
UTSW |
12 |
61,890,192 (GRCm39) |
missense |
possibly damaging |
0.91 |
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'- GAGTCCTGCTTTGCCAAGCATTG -3'
(R):5'- CGTGACCTTGTGTTGCCCATTATTG -3'
Sequencing Primer
(F):5'- CTGTAACAATGAGCTTTCGGC -3'
(R):5'- GTGTTGCCCATTATTGTTACAAACC -3'
|
Posted On |
2013-11-08 |