Incidental Mutation 'R5768:Lrfn5'
ID |
446398 |
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 |
043368-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R5768 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
61569936-61905128 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 61886509 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 99
(R99Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113123
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055815]
[ENSMUST00000119481]
|
AlphaFold |
Q8BXA0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055815
AA Change: R99Q
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000051546 Gene: ENSMUSG00000035653 AA Change: R99Q
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 benign
Transcript: ENSMUST00000119481
AA Change: R99Q
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000113123 Gene: ENSMUSG00000035653 AA Change: R99Q
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 |
0.0757 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
98% (59/60) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
G |
A |
5: 8,177,426 (GRCm39) |
T561I |
probably benign |
Het |
Akp3 |
T |
C |
1: 87,054,844 (GRCm39) |
I393T |
probably damaging |
Het |
Atxn10 |
A |
T |
15: 85,277,621 (GRCm39) |
I363F |
probably benign |
Het |
BC004004 |
A |
T |
17: 29,501,709 (GRCm39) |
S83C |
probably damaging |
Het |
Bin1 |
T |
A |
18: 32,559,264 (GRCm39) |
|
probably null |
Het |
Cacna1c |
A |
G |
6: 118,674,641 (GRCm39) |
I541T |
probably damaging |
Het |
Cand1 |
A |
G |
10: 119,046,910 (GRCm39) |
V860A |
probably benign |
Het |
Ccdc69 |
T |
C |
11: 54,945,856 (GRCm39) |
N50S |
possibly damaging |
Het |
Cd209d |
T |
A |
8: 3,921,968 (GRCm39) |
T235S |
probably benign |
Het |
Cdhr3 |
G |
T |
12: 33,096,685 (GRCm39) |
T591K |
possibly damaging |
Het |
Cherp |
C |
T |
8: 73,216,957 (GRCm39) |
D658N |
probably damaging |
Het |
Clip4 |
T |
A |
17: 72,113,494 (GRCm39) |
|
probably null |
Het |
Cryzl1 |
C |
T |
16: 91,492,242 (GRCm39) |
V195M |
probably damaging |
Het |
Cst11 |
A |
T |
2: 148,612,387 (GRCm39) |
Y83* |
probably null |
Het |
Ddb2 |
T |
C |
2: 91,042,337 (GRCm39) |
S419G |
possibly damaging |
Het |
Ddi2 |
A |
T |
4: 141,412,901 (GRCm39) |
L4M |
probably damaging |
Het |
Dip2b |
C |
A |
15: 100,055,826 (GRCm39) |
P393T |
probably benign |
Het |
Dnmt3a |
G |
A |
12: 3,935,660 (GRCm39) |
|
probably null |
Het |
Elf5 |
C |
T |
2: 103,279,367 (GRCm39) |
S196L |
probably damaging |
Het |
Eps15 |
C |
G |
4: 109,220,373 (GRCm39) |
|
probably null |
Het |
Fra10ac1 |
T |
C |
19: 38,195,734 (GRCm39) |
E163G |
probably benign |
Het |
Gc |
T |
C |
5: 89,589,125 (GRCm39) |
T213A |
probably damaging |
Het |
Grpel1 |
A |
T |
5: 36,622,503 (GRCm39) |
|
probably benign |
Het |
Gsdme |
G |
A |
6: 50,196,280 (GRCm39) |
Q377* |
probably null |
Het |
Hira |
T |
C |
16: 18,753,768 (GRCm39) |
|
probably benign |
Het |
Hsd11b1 |
T |
A |
1: 192,922,554 (GRCm39) |
I168F |
probably damaging |
Het |
Htr6 |
G |
A |
4: 138,789,015 (GRCm39) |
R347W |
probably damaging |
Het |
Ipp |
A |
C |
4: 116,367,967 (GRCm39) |
T67P |
probably damaging |
Het |
Madd |
T |
A |
2: 90,998,174 (GRCm39) |
I649F |
probably damaging |
Het |
Map2k7 |
T |
A |
8: 4,295,757 (GRCm39) |
D368E |
probably benign |
Het |
Mppe1 |
T |
G |
18: 67,358,889 (GRCm39) |
T360P |
possibly damaging |
Het |
Msi2 |
A |
G |
11: 88,608,564 (GRCm39) |
F2L |
probably damaging |
Het |
Nectin3 |
T |
C |
16: 46,279,180 (GRCm39) |
Q266R |
probably damaging |
Het |
Nfasc |
T |
C |
1: 132,532,883 (GRCm39) |
H691R |
probably benign |
Het |
Oprm1 |
G |
A |
10: 6,739,026 (GRCm39) |
G51D |
probably damaging |
Het |
Or4c117 |
T |
C |
2: 88,955,793 (GRCm39) |
E94G |
probably benign |
Het |
Or5ac15 |
TGAAGAAGAA |
TGAAGAA |
16: 58,940,335 (GRCm39) |
|
probably benign |
Het |
Papss2 |
G |
A |
19: 32,638,119 (GRCm39) |
|
probably null |
Het |
Pi4ka |
T |
C |
16: 17,172,736 (GRCm39) |
K549E |
probably benign |
Het |
Plekha6 |
A |
G |
1: 133,208,116 (GRCm39) |
T596A |
probably benign |
Het |
Polr2f |
A |
G |
15: 79,035,845 (GRCm39) |
D117G |
probably damaging |
Het |
Psd |
T |
C |
19: 46,301,178 (GRCm39) |
E381G |
possibly damaging |
Het |
Rfx6 |
G |
A |
10: 51,602,976 (GRCm39) |
R831H |
probably damaging |
Het |
Rpp25l |
A |
T |
4: 41,712,649 (GRCm39) |
L42Q |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,583,442 (GRCm39) |
M2810V |
probably benign |
Het |
Sdk1 |
C |
A |
5: 142,129,626 (GRCm39) |
L1616I |
probably benign |
Het |
Spock2 |
T |
A |
10: 59,962,029 (GRCm39) |
F215I |
probably damaging |
Het |
Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
Tchh |
A |
T |
3: 93,353,488 (GRCm39) |
E976V |
unknown |
Het |
Tgfbr3 |
T |
C |
5: 107,297,761 (GRCm39) |
E213G |
probably benign |
Het |
Tmed1 |
T |
C |
9: 21,420,619 (GRCm39) |
D71G |
probably benign |
Het |
Tmtc4 |
T |
A |
14: 123,170,565 (GRCm39) |
K527N |
possibly damaging |
Het |
Zfhx2 |
T |
C |
14: 55,311,822 (GRCm39) |
T291A |
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 |
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'- CTTGCAACCCTTTGTGCCAAG -3'
(R):5'- GCATCCCAGGGAATCGTTTCTAG -3'
Sequencing Primer
(F):5'- CCAAGAAAGGGCTTCTATTTGTTCC -3'
(R):5'- TTATAGGACAGGTCCAGCTC -3'
|
Posted On |
2016-11-21 |