Incidental Mutation 'R4431:Lrrc71'
ID |
328597 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc71
|
Ensembl Gene |
ENSMUSG00000023084 |
Gene Name |
leucine rich repeat containing 71 |
Synonyms |
4933430H15Rik |
MMRRC Submission |
041146-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4431 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
87644230-87655932 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87650143 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 286
(S286P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023846
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023846]
[ENSMUST00000039476]
[ENSMUST00000152006]
|
AlphaFold |
Q9D3W5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023846
AA Change: S286P
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000023846 Gene: ENSMUSG00000023084 AA Change: S286P
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
Blast:LRR
|
165 |
191 |
6e-7 |
BLAST |
LRR
|
219 |
246 |
4.24e-1 |
SMART |
LRR
|
251 |
278 |
1.33e-1 |
SMART |
LRR
|
279 |
306 |
1.98e-4 |
SMART |
low complexity region
|
312 |
323 |
N/A |
INTRINSIC |
low complexity region
|
329 |
337 |
N/A |
INTRINSIC |
low complexity region
|
376 |
390 |
N/A |
INTRINSIC |
low complexity region
|
407 |
414 |
N/A |
INTRINSIC |
LRR
|
472 |
499 |
1.83e2 |
SMART |
low complexity region
|
547 |
557 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000039476
|
SMART Domains |
Protein: ENSMUSP00000039900 Gene: ENSMUSG00000041977
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
PDZ
|
55 |
123 |
2.45e-18 |
SMART |
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
coiled coil region
|
205 |
231 |
N/A |
INTRINSIC |
RGS
|
353 |
472 |
3.36e-11 |
SMART |
low complexity region
|
554 |
565 |
N/A |
INTRINSIC |
low complexity region
|
625 |
639 |
N/A |
INTRINSIC |
low complexity region
|
681 |
694 |
N/A |
INTRINSIC |
RhoGEF
|
768 |
952 |
1.11e-65 |
SMART |
PH
|
996 |
1111 |
9.49e-6 |
SMART |
low complexity region
|
1153 |
1166 |
N/A |
INTRINSIC |
low complexity region
|
1176 |
1188 |
N/A |
INTRINSIC |
low complexity region
|
1333 |
1343 |
N/A |
INTRINSIC |
low complexity region
|
1357 |
1367 |
N/A |
INTRINSIC |
low complexity region
|
1478 |
1490 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152006
|
SMART Domains |
Protein: ENSMUSP00000122166 Gene: ENSMUSG00000041977
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
PDZ
|
55 |
123 |
2.45e-18 |
SMART |
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
coiled coil region
|
205 |
231 |
N/A |
INTRINSIC |
RGS
|
353 |
472 |
3.36e-11 |
SMART |
low complexity region
|
554 |
565 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172985
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174208
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174381
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174581
|
SMART Domains |
Protein: ENSMUSP00000134711 Gene: ENSMUSG00000023084
Domain | Start | End | E-Value | Type |
Blast:LRR
|
67 |
94 |
1e-10 |
BLAST |
low complexity region
|
142 |
152 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.4369 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
2510039O18Rik |
T |
C |
4: 148,026,022 (GRCm39) |
S181P |
probably benign |
Het |
4930522L14Rik |
A |
T |
5: 109,884,440 (GRCm39) |
C473S |
possibly damaging |
Het |
4930523C07Rik |
A |
T |
1: 159,872,149 (GRCm39) |
|
noncoding transcript |
Het |
Aak1 |
A |
G |
6: 86,963,300 (GRCm39) |
K910R |
unknown |
Het |
Abca2 |
A |
G |
2: 25,332,864 (GRCm39) |
D1521G |
probably benign |
Het |
Adamts20 |
C |
A |
15: 94,241,924 (GRCm39) |
D695Y |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Bltp3a |
A |
G |
17: 28,104,905 (GRCm39) |
N533S |
probably damaging |
Het |
Bspry |
T |
A |
4: 62,400,904 (GRCm39) |
I132N |
possibly damaging |
Het |
Cfap300 |
A |
G |
9: 8,027,178 (GRCm39) |
V120A |
probably damaging |
Het |
Cfh |
T |
C |
1: 140,064,004 (GRCm39) |
Y424C |
probably damaging |
Het |
Chd2 |
T |
C |
7: 73,085,709 (GRCm39) |
R1642G |
possibly damaging |
Het |
Chrm2 |
A |
G |
6: 36,501,097 (GRCm39) |
D318G |
probably benign |
Het |
Chrna4 |
A |
G |
2: 180,670,413 (GRCm39) |
S448P |
probably damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Dock8 |
T |
C |
19: 25,042,754 (GRCm39) |
V112A |
probably benign |
Het |
Fbxo42 |
C |
A |
4: 140,927,861 (GRCm39) |
R714S |
probably damaging |
Het |
Fmo1 |
G |
A |
1: 162,661,281 (GRCm39) |
A334V |
possibly damaging |
Het |
Gpr68 |
A |
T |
12: 100,865,650 (GRCm39) |
|
probably benign |
Het |
Gramd4 |
A |
G |
15: 86,014,361 (GRCm39) |
K345R |
probably damaging |
Het |
Gtpbp1 |
T |
G |
15: 79,600,398 (GRCm39) |
S444A |
probably damaging |
Het |
Ints12 |
T |
C |
3: 132,808,242 (GRCm39) |
Y207H |
probably damaging |
Het |
Kat2b-ps |
A |
T |
5: 93,540,443 (GRCm39) |
|
noncoding transcript |
Het |
Klhl25 |
T |
A |
7: 75,515,162 (GRCm39) |
F23I |
probably damaging |
Het |
Lamc1 |
A |
G |
1: 153,097,274 (GRCm39) |
I1590T |
probably damaging |
Het |
Lhfpl4 |
A |
G |
6: 113,170,805 (GRCm39) |
I127T |
possibly damaging |
Het |
Man1c1 |
A |
T |
4: 134,430,329 (GRCm39) |
V151D |
probably damaging |
Het |
Mipol1 |
G |
A |
12: 57,350,310 (GRCm39) |
R36Q |
possibly damaging |
Het |
Nuggc |
T |
A |
14: 65,848,659 (GRCm39) |
W187R |
probably benign |
Het |
Or4a71 |
A |
G |
2: 89,357,987 (GRCm39) |
Y256H |
probably damaging |
Het |
Pkhd1 |
G |
A |
1: 20,593,538 (GRCm39) |
T1525I |
probably damaging |
Het |
Pomp |
A |
G |
5: 147,812,289 (GRCm39) |
E125G |
probably damaging |
Het |
Ptar1 |
G |
T |
19: 23,671,695 (GRCm39) |
G33C |
probably damaging |
Het |
Ptpn3 |
A |
G |
4: 57,235,355 (GRCm39) |
S335P |
probably damaging |
Het |
Pus7 |
A |
G |
5: 23,951,487 (GRCm39) |
Y521H |
probably benign |
Het |
Shank1 |
C |
T |
7: 43,969,076 (GRCm39) |
R324* |
probably null |
Het |
Slc12a3 |
A |
T |
8: 95,069,713 (GRCm39) |
I541F |
probably damaging |
Het |
Slc12a9 |
G |
A |
5: 137,319,775 (GRCm39) |
P580L |
probably benign |
Het |
Spz1 |
A |
G |
13: 92,711,837 (GRCm39) |
L213P |
probably damaging |
Het |
Strn |
A |
G |
17: 79,043,891 (GRCm39) |
V9A |
probably damaging |
Het |
Sytl5 |
A |
T |
X: 9,826,262 (GRCm39) |
N412Y |
probably damaging |
Het |
Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
Tmem67 |
T |
A |
4: 12,051,473 (GRCm39) |
N785I |
possibly damaging |
Het |
Trf |
T |
C |
9: 103,089,075 (GRCm39) |
N243S |
possibly damaging |
Het |
Ttc3 |
T |
C |
16: 94,211,817 (GRCm39) |
|
probably null |
Het |
Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
Vps13b |
A |
C |
15: 35,770,899 (GRCm39) |
Q2114P |
probably damaging |
Het |
Wdfy1 |
T |
A |
1: 79,691,583 (GRCm39) |
R275* |
probably null |
Het |
Wnt2b |
A |
G |
3: 104,860,256 (GRCm39) |
L217S |
probably damaging |
Het |
|
Other mutations in Lrrc71 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02030:Lrrc71
|
APN |
3 |
87,652,531 (GRCm39) |
splice site |
probably null |
|
IGL02387:Lrrc71
|
APN |
3 |
87,650,378 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02632:Lrrc71
|
APN |
3 |
87,650,647 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02701:Lrrc71
|
APN |
3 |
87,649,079 (GRCm39) |
missense |
probably benign |
0.37 |
R0372:Lrrc71
|
UTSW |
3 |
87,653,084 (GRCm39) |
missense |
probably benign |
0.40 |
R0505:Lrrc71
|
UTSW |
3 |
87,653,006 (GRCm39) |
missense |
probably damaging |
0.98 |
R0827:Lrrc71
|
UTSW |
3 |
87,649,952 (GRCm39) |
splice site |
probably null |
|
R1511:Lrrc71
|
UTSW |
3 |
87,652,791 (GRCm39) |
missense |
probably benign |
0.00 |
R1541:Lrrc71
|
UTSW |
3 |
87,649,148 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1987:Lrrc71
|
UTSW |
3 |
87,649,950 (GRCm39) |
missense |
probably benign |
0.25 |
R2054:Lrrc71
|
UTSW |
3 |
87,649,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R2143:Lrrc71
|
UTSW |
3 |
87,652,828 (GRCm39) |
nonsense |
probably null |
|
R2427:Lrrc71
|
UTSW |
3 |
87,653,309 (GRCm39) |
missense |
probably benign |
|
R3700:Lrrc71
|
UTSW |
3 |
87,653,185 (GRCm39) |
splice site |
probably null |
|
R4073:Lrrc71
|
UTSW |
3 |
87,652,569 (GRCm39) |
missense |
probably benign |
0.01 |
R4231:Lrrc71
|
UTSW |
3 |
87,648,298 (GRCm39) |
missense |
probably benign |
0.01 |
R4477:Lrrc71
|
UTSW |
3 |
87,649,972 (GRCm39) |
missense |
probably damaging |
0.99 |
R4562:Lrrc71
|
UTSW |
3 |
87,652,715 (GRCm39) |
unclassified |
probably benign |
|
R4563:Lrrc71
|
UTSW |
3 |
87,652,715 (GRCm39) |
unclassified |
probably benign |
|
R4564:Lrrc71
|
UTSW |
3 |
87,652,715 (GRCm39) |
unclassified |
probably benign |
|
R4724:Lrrc71
|
UTSW |
3 |
87,646,481 (GRCm39) |
missense |
probably damaging |
0.97 |
R4826:Lrrc71
|
UTSW |
3 |
87,650,615 (GRCm39) |
missense |
probably benign |
0.33 |
R5156:Lrrc71
|
UTSW |
3 |
87,653,094 (GRCm39) |
missense |
probably benign |
0.07 |
R5631:Lrrc71
|
UTSW |
3 |
87,646,456 (GRCm39) |
missense |
probably benign |
0.00 |
R6182:Lrrc71
|
UTSW |
3 |
87,653,101 (GRCm39) |
missense |
probably benign |
0.41 |
R6558:Lrrc71
|
UTSW |
3 |
87,649,950 (GRCm39) |
missense |
probably benign |
0.25 |
R6885:Lrrc71
|
UTSW |
3 |
87,649,927 (GRCm39) |
splice site |
probably null |
|
R7036:Lrrc71
|
UTSW |
3 |
87,655,693 (GRCm39) |
missense |
probably benign |
0.00 |
R7199:Lrrc71
|
UTSW |
3 |
87,650,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R7211:Lrrc71
|
UTSW |
3 |
87,650,633 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7634:Lrrc71
|
UTSW |
3 |
87,650,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R7638:Lrrc71
|
UTSW |
3 |
87,649,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R7695:Lrrc71
|
UTSW |
3 |
87,646,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R8971:Lrrc71
|
UTSW |
3 |
87,647,153 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9041:Lrrc71
|
UTSW |
3 |
87,650,660 (GRCm39) |
missense |
probably damaging |
0.97 |
R9427:Lrrc71
|
UTSW |
3 |
87,650,368 (GRCm39) |
missense |
probably benign |
|
R9583:Lrrc71
|
UTSW |
3 |
87,650,258 (GRCm39) |
missense |
possibly damaging |
0.78 |
Z1177:Lrrc71
|
UTSW |
3 |
87,650,128 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAACACAGCTGTCCTCAC -3'
(R):5'- CGAACCCTGGTTTCACTGAAC -3'
Sequencing Primer
(F):5'- GTTCCTTTCACCAGCAGCAGG -3'
(R):5'- GGTTTCACTGAACCTAGCATTCAAC -3'
|
Posted On |
2015-07-21 |