Incidental Mutation 'R5885:Lrrc47'
| ID |
456031 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc47
|
| Ensembl Gene |
ENSMUSG00000029028 |
| Gene Name |
leucine rich repeat containing 47 |
| Synonyms |
2900010D03Rik |
| MMRRC Submission |
043237-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R5885 (G1)
|
| Quality Score |
160 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
154096260-154105969 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 154100429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 335
(V335D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030894]
[ENSMUST00000143047]
[ENSMUST00000169622]
[ENSMUST00000182151]
[ENSMUST00000182191]
|
| AlphaFold |
Q505F5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030894
AA Change: V313D
PolyPhen 2
Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000030894
Gene: ENSMUSG00000029028
AA Change: V313D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
7 |
N/A |
INTRINSIC |
|
low complexity region
|
10 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
54 |
N/A |
INTRINSIC |
|
LRR_TYP
|
100 |
123 |
2.61e-4 |
SMART |
|
LRR_TYP
|
130 |
153 |
2.12e-4 |
SMART |
|
LRR
|
155 |
177 |
3.75e0 |
SMART |
|
LRR
|
180 |
202 |
9.77e1 |
SMART |
|
LRR_TYP
|
203 |
226 |
2.27e-4 |
SMART |
|
low complexity region
|
261 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
277 |
292 |
N/A |
INTRINSIC |
|
B3_4
|
331 |
507 |
8.94e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142794
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143047
|
| SMART Domains |
Protein: ENSMUSP00000138733
Gene: ENSMUSG00000078350
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163672
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167947
|
| SMART Domains |
Protein: ENSMUSP00000131382
Gene: ENSMUSG00000029028
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:B3_4
|
1 |
54 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169622
AA Change: V335D
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133124
Gene: ENSMUSG00000029028
AA Change: V335D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
76 |
N/A |
INTRINSIC |
|
LRR_TYP
|
122 |
145 |
2.61e-4 |
SMART |
|
LRR_TYP
|
152 |
175 |
2.12e-4 |
SMART |
|
LRR
|
177 |
199 |
3.75e0 |
SMART |
|
LRR
|
202 |
224 |
9.77e1 |
SMART |
|
LRR_TYP
|
225 |
248 |
2.27e-4 |
SMART |
|
low complexity region
|
283 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
|
B3_4
|
353 |
529 |
8.94e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182151
|
| SMART Domains |
Protein: ENSMUSP00000138692
Gene: ENSMUSG00000078350
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182191
|
| SMART Domains |
Protein: ENSMUSP00000138710
Gene: ENSMUSG00000078350
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot10 |
T |
A |
15: 20,666,190 (GRCm39) |
M184L |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,572,390 (GRCm39) |
S4924T |
probably benign |
Het |
| Atp10a |
T |
A |
7: 58,463,548 (GRCm39) |
M1027K |
possibly damaging |
Het |
| Axl |
T |
A |
7: 25,466,277 (GRCm39) |
K510I |
probably damaging |
Het |
| Azi2 |
T |
A |
9: 117,876,628 (GRCm39) |
I48N |
probably damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,668,927 (GRCm39) |
I720V |
probably benign |
Het |
| Dnah8 |
C |
T |
17: 31,013,691 (GRCm39) |
P3811S |
probably damaging |
Het |
| Epas1 |
A |
G |
17: 87,134,972 (GRCm39) |
D535G |
probably damaging |
Het |
| Fam47e |
A |
G |
5: 92,713,827 (GRCm39) |
K152R |
probably damaging |
Het |
| Fbxl3 |
A |
T |
14: 103,320,667 (GRCm39) |
I260K |
probably benign |
Het |
| Fcgr3 |
A |
G |
1: 170,885,280 (GRCm39) |
V115A |
probably damaging |
Het |
| Fgf12 |
G |
T |
16: 28,217,046 (GRCm39) |
D98E |
possibly damaging |
Het |
| Flt3 |
T |
C |
5: 147,286,439 (GRCm39) |
T716A |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr141b |
A |
T |
13: 19,913,519 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2a |
A |
G |
16: 9,579,769 (GRCm39) |
Y165H |
possibly damaging |
Het |
| Ifna4 |
T |
A |
4: 88,760,599 (GRCm39) |
W168R |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,670,132 (GRCm39) |
Y752C |
probably damaging |
Het |
| Khdrbs3 |
A |
G |
15: 68,896,547 (GRCm39) |
|
probably null |
Het |
| Kif24 |
A |
T |
4: 41,423,463 (GRCm39) |
Y263N |
probably damaging |
Het |
| Lama5 |
G |
T |
2: 179,843,624 (GRCm39) |
T441K |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,566,589 (GRCm39) |
I2044N |
unknown |
Het |
| Mast2 |
C |
T |
4: 116,172,035 (GRCm39) |
G638S |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,778,503 (GRCm39) |
S1420P |
probably benign |
Het |
| Neurl2 |
T |
C |
2: 164,674,811 (GRCm39) |
T184A |
probably damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,822,944 (GRCm39) |
I577V |
probably benign |
Het |
| Nipal3 |
A |
T |
4: 135,199,288 (GRCm39) |
V186E |
probably damaging |
Het |
| Pgbd5 |
G |
A |
8: 125,111,205 (GRCm39) |
T162M |
probably damaging |
Het |
| Plod2 |
T |
A |
9: 92,488,709 (GRCm39) |
|
probably null |
Het |
| Psg22 |
T |
A |
7: 18,452,257 (GRCm39) |
L19Q |
probably damaging |
Het |
| Psg27 |
T |
A |
7: 18,295,711 (GRCm39) |
N245Y |
probably damaging |
Het |
| Ptprc |
T |
A |
1: 138,016,246 (GRCm39) |
I539F |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,488,143 (GRCm39) |
L59P |
probably damaging |
Het |
| Slc2a9 |
G |
A |
5: 38,598,017 (GRCm39) |
R137W |
probably damaging |
Het |
| Spats2l |
C |
T |
1: 57,985,321 (GRCm39) |
A458V |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,907,144 (GRCm39) |
|
probably benign |
Het |
| Stox1 |
C |
A |
10: 62,500,627 (GRCm39) |
L644F |
probably damaging |
Het |
| Sv2b |
C |
T |
7: 74,806,501 (GRCm39) |
G213E |
probably damaging |
Het |
| Tas2r121 |
T |
G |
6: 132,677,254 (GRCm39) |
L239F |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,731,603 (GRCm39) |
V854E |
probably damaging |
Het |
| Vmn2r97 |
A |
G |
17: 19,168,035 (GRCm39) |
Y763C |
possibly damaging |
Het |
| Xkr6 |
T |
A |
14: 63,844,360 (GRCm39) |
W128R |
probably damaging |
Het |
|
| Other mutations in Lrrc47 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02502:Lrrc47
|
APN |
4 |
154,100,471 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02614:Lrrc47
|
APN |
4 |
154,103,392 (GRCm39) |
splice site |
probably null |
|
|
IGL03001:Lrrc47
|
APN |
4 |
154,100,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0372:Lrrc47
|
UTSW |
4 |
154,104,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0433:Lrrc47
|
UTSW |
4 |
154,102,822 (GRCm39) |
unclassified |
probably benign |
|
|
R0720:Lrrc47
|
UTSW |
4 |
154,104,344 (GRCm39) |
splice site |
probably null |
|
|
R1163:Lrrc47
|
UTSW |
4 |
154,096,274 (GRCm39) |
start codon destroyed |
probably null |
|
|
R2078:Lrrc47
|
UTSW |
4 |
154,103,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2103:Lrrc47
|
UTSW |
4 |
154,100,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5105:Lrrc47
|
UTSW |
4 |
154,096,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5109:Lrrc47
|
UTSW |
4 |
154,101,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5687:Lrrc47
|
UTSW |
4 |
154,100,140 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6198:Lrrc47
|
UTSW |
4 |
154,100,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6384:Lrrc47
|
UTSW |
4 |
154,100,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7040:Lrrc47
|
UTSW |
4 |
154,104,909 (GRCm39) |
makesense |
probably null |
|
|
R7680:Lrrc47
|
UTSW |
4 |
154,100,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8263:Lrrc47
|
UTSW |
4 |
154,100,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9092:Lrrc47
|
UTSW |
4 |
154,096,421 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9364:Lrrc47
|
UTSW |
4 |
154,100,398 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9483:Lrrc47
|
UTSW |
4 |
154,101,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9706:Lrrc47
|
UTSW |
4 |
154,096,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTAGAGTACCTTCGTGCTGG -3'
(R):5'- TGAATGCATGCCCACCCTAG -3'
Sequencing Primer
(F):5'- TACCTTCGTGCTGGTGGCC -3'
(R):5'- TAGCATGCACCCAAGTCTGTCTG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation