Incidental Mutation 'R6488:Lrrc49'
ID |
522530 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc49
|
Ensembl Gene |
ENSMUSG00000047766 |
Gene Name |
leucine rich repeat containing 49 |
Synonyms |
D430025H09Rik |
MMRRC Submission |
044620-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R6488 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
60494507-60595460 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 60509916 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 157
(F157L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057014
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053171]
[ENSMUST00000065603]
[ENSMUST00000114032]
[ENSMUST00000114034]
[ENSMUST00000150060]
[ENSMUST00000166168]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053171
AA Change: F157L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000057014 Gene: ENSMUSG00000047766 AA Change: F157L
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
34 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065603
AA Change: F517L
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000070606 Gene: ENSMUSG00000047766 AA Change: F517L
Domain | Start | End | E-Value | Type |
LRR
|
199 |
221 |
2.84e1 |
SMART |
LRR
|
243 |
264 |
1.49e1 |
SMART |
LRR
|
265 |
286 |
1.37e2 |
SMART |
LRR
|
287 |
308 |
1.62e1 |
SMART |
LRR
|
309 |
332 |
6.77e0 |
SMART |
low complexity region
|
378 |
394 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114032
AA Change: F445L
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000109666 Gene: ENSMUSG00000047766 AA Change: F445L
Domain | Start | End | E-Value | Type |
LRR
|
127 |
149 |
2.84e1 |
SMART |
LRR
|
171 |
192 |
1.49e1 |
SMART |
LRR
|
193 |
214 |
1.37e2 |
SMART |
LRR
|
215 |
236 |
1.62e1 |
SMART |
LRR
|
237 |
260 |
6.77e0 |
SMART |
low complexity region
|
306 |
322 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114034
AA Change: F451L
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000109668 Gene: ENSMUSG00000047766 AA Change: F451L
Domain | Start | End | E-Value | Type |
LRR
|
133 |
155 |
2.84e1 |
SMART |
LRR
|
177 |
198 |
1.49e1 |
SMART |
LRR
|
199 |
220 |
1.37e2 |
SMART |
LRR
|
221 |
242 |
1.62e1 |
SMART |
LRR
|
243 |
266 |
6.77e0 |
SMART |
low complexity region
|
312 |
328 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136388
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150060
|
SMART Domains |
Protein: ENSMUSP00000118205 Gene: ENSMUSG00000047766
Domain | Start | End | E-Value | Type |
LRR
|
133 |
155 |
2.84e1 |
SMART |
LRR
|
177 |
198 |
1.49e1 |
SMART |
LRR
|
199 |
220 |
1.37e2 |
SMART |
LRR
|
221 |
242 |
1.62e1 |
SMART |
LRR
|
243 |
266 |
6.77e0 |
SMART |
low complexity region
|
312 |
328 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166168
AA Change: F511L
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000128842 Gene: ENSMUSG00000047766 AA Change: F511L
Domain | Start | End | E-Value | Type |
LRR
|
193 |
215 |
2.84e1 |
SMART |
LRR
|
237 |
258 |
1.49e1 |
SMART |
LRR
|
259 |
280 |
1.37e2 |
SMART |
LRR
|
281 |
302 |
1.62e1 |
SMART |
LRR
|
303 |
326 |
6.77e0 |
SMART |
low complexity region
|
372 |
388 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.3283 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
Validation Efficiency |
96% (65/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
C |
T |
7: 41,275,298 (GRCm39) |
Q334* |
probably null |
Het |
Abhd15 |
T |
C |
11: 77,406,848 (GRCm39) |
F275S |
possibly damaging |
Het |
Adamts7 |
A |
G |
9: 90,053,535 (GRCm39) |
T27A |
probably benign |
Het |
Ankar |
A |
G |
1: 72,720,967 (GRCm39) |
|
probably null |
Het |
Ap2a2 |
T |
C |
7: 141,182,220 (GRCm39) |
V183A |
probably benign |
Het |
Arhgef37 |
G |
A |
18: 61,651,123 (GRCm39) |
A134V |
probably benign |
Het |
Col3a1 |
C |
A |
1: 45,370,694 (GRCm39) |
|
probably benign |
Het |
Cplx3 |
A |
G |
9: 57,527,926 (GRCm39) |
S10P |
possibly damaging |
Het |
Cxcr5 |
A |
G |
9: 44,425,276 (GRCm39) |
V127A |
probably damaging |
Het |
Eif4b |
T |
A |
15: 102,001,422 (GRCm39) |
|
probably benign |
Het |
Ext2 |
A |
G |
2: 93,636,430 (GRCm39) |
V228A |
probably damaging |
Het |
Fam83h |
T |
C |
15: 75,873,902 (GRCm39) |
E1145G |
possibly damaging |
Het |
Fcgbp |
A |
G |
7: 27,792,963 (GRCm39) |
D989G |
probably damaging |
Het |
Fchsd1 |
T |
C |
18: 38,100,321 (GRCm39) |
|
probably null |
Het |
Fcnb |
T |
C |
2: 27,968,301 (GRCm39) |
K219E |
probably damaging |
Het |
Fndc7 |
T |
C |
3: 108,777,891 (GRCm39) |
E355G |
probably damaging |
Het |
Glis3 |
T |
C |
19: 28,276,253 (GRCm39) |
H746R |
probably benign |
Het |
Glod4 |
A |
G |
11: 76,128,611 (GRCm39) |
V74A |
probably damaging |
Het |
Gpc6 |
T |
C |
14: 118,202,125 (GRCm39) |
I445T |
possibly damaging |
Het |
Hdlbp |
T |
C |
1: 93,355,946 (GRCm39) |
D337G |
probably damaging |
Het |
Hnf1a |
T |
C |
5: 115,094,020 (GRCm39) |
T190A |
probably benign |
Het |
Iqgap1 |
G |
C |
7: 80,380,074 (GRCm39) |
T1129R |
probably benign |
Het |
Kcnc3 |
T |
C |
7: 44,244,606 (GRCm39) |
F299L |
possibly damaging |
Het |
Kif26b |
T |
C |
1: 178,357,138 (GRCm39) |
V4A |
unknown |
Het |
Kifbp |
C |
A |
10: 62,395,437 (GRCm39) |
|
probably null |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Krtap4-1 |
G |
T |
11: 99,518,903 (GRCm39) |
R36S |
unknown |
Het |
Lrpprc |
T |
C |
17: 85,058,781 (GRCm39) |
N693S |
probably damaging |
Het |
Mettl22 |
T |
C |
16: 8,305,225 (GRCm39) |
F293L |
probably damaging |
Het |
Mga |
T |
A |
2: 119,791,388 (GRCm39) |
N2424K |
probably damaging |
Het |
Mgat4f |
T |
A |
1: 134,318,626 (GRCm39) |
V466D |
probably damaging |
Het |
Mpdz |
G |
T |
4: 81,205,970 (GRCm39) |
A1784E |
probably benign |
Het |
Mpv17l |
G |
A |
16: 13,764,452 (GRCm39) |
|
probably null |
Het |
Mtus1 |
G |
A |
8: 41,494,545 (GRCm39) |
S29L |
possibly damaging |
Het |
Myo15a |
A |
T |
11: 60,369,313 (GRCm39) |
H691L |
possibly damaging |
Het |
Nbea |
T |
C |
3: 55,625,264 (GRCm39) |
T2276A |
probably damaging |
Het |
Npas4 |
A |
G |
19: 5,036,011 (GRCm39) |
S718P |
probably damaging |
Het |
Ntrk2 |
T |
A |
13: 59,009,170 (GRCm39) |
N320K |
possibly damaging |
Het |
Nup214 |
T |
A |
2: 31,881,384 (GRCm39) |
I414N |
possibly damaging |
Het |
Oas2 |
A |
G |
5: 120,876,428 (GRCm39) |
F15S |
probably damaging |
Het |
Or52z15 |
T |
C |
7: 103,332,285 (GRCm39) |
I110T |
probably damaging |
Het |
Or5b118 |
T |
C |
19: 13,448,981 (GRCm39) |
Y216H |
probably damaging |
Het |
Pabpc6 |
A |
G |
17: 9,888,528 (GRCm39) |
Y8H |
probably damaging |
Het |
Pbx1 |
T |
A |
1: 168,018,964 (GRCm39) |
N294Y |
probably damaging |
Het |
Pcyt1a |
T |
C |
16: 32,285,899 (GRCm39) |
M190T |
probably damaging |
Het |
Pogk |
T |
C |
1: 166,226,991 (GRCm39) |
I387V |
possibly damaging |
Het |
Ppp6r2 |
T |
C |
15: 89,152,741 (GRCm39) |
L294P |
probably benign |
Het |
Pramel51 |
T |
C |
12: 88,144,357 (GRCm39) |
H152R |
possibly damaging |
Het |
Ptprn2 |
T |
A |
12: 116,835,658 (GRCm39) |
I331K |
probably benign |
Het |
Ptpro |
T |
G |
6: 137,370,673 (GRCm39) |
Y591* |
probably null |
Het |
Ptprz1 |
T |
A |
6: 23,001,516 (GRCm39) |
L1202* |
probably null |
Het |
Rab37 |
A |
G |
11: 115,048,789 (GRCm39) |
T73A |
probably benign |
Het |
Rad51ap2 |
T |
G |
12: 11,508,161 (GRCm39) |
S694R |
possibly damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,340,951 (GRCm39) |
D148E |
probably damaging |
Het |
Rraga |
G |
A |
4: 86,494,565 (GRCm39) |
R137H |
probably damaging |
Het |
Serpinf2 |
A |
G |
11: 75,328,329 (GRCm39) |
V73A |
probably benign |
Het |
Siglec1 |
T |
C |
2: 130,923,227 (GRCm39) |
N506S |
probably damaging |
Het |
Slc35e4 |
T |
C |
11: 3,862,602 (GRCm39) |
T196A |
possibly damaging |
Het |
St6galnac3 |
C |
T |
3: 153,117,394 (GRCm39) |
A110T |
probably damaging |
Het |
Thsd1 |
T |
C |
8: 22,733,733 (GRCm39) |
V260A |
probably benign |
Het |
Tpbg |
T |
A |
9: 85,726,538 (GRCm39) |
V169D |
possibly damaging |
Het |
Trav16n |
A |
G |
14: 53,589,042 (GRCm39) |
E106G |
probably benign |
Het |
Vmn1r219 |
T |
C |
13: 23,347,135 (GRCm39) |
I108T |
probably benign |
Het |
Vmn2r50 |
T |
C |
7: 9,771,644 (GRCm39) |
I686V |
probably damaging |
Het |
Zdhhc20 |
C |
T |
14: 58,078,289 (GRCm39) |
R329K |
probably benign |
Het |
Zfp64 |
A |
G |
2: 168,777,129 (GRCm39) |
|
probably null |
Het |
Zfp941 |
C |
T |
7: 140,392,663 (GRCm39) |
R232H |
probably benign |
Het |
|
Other mutations in Lrrc49 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00156:Lrrc49
|
APN |
9 |
60,508,603 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00468:Lrrc49
|
APN |
9 |
60,595,151 (GRCm39) |
unclassified |
probably benign |
|
IGL00792:Lrrc49
|
APN |
9 |
60,595,121 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02252:Lrrc49
|
APN |
9 |
60,595,142 (GRCm39) |
start codon destroyed |
probably benign |
0.04 |
IGL02830:Lrrc49
|
APN |
9 |
60,592,393 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03103:Lrrc49
|
APN |
9 |
60,592,316 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03223:Lrrc49
|
APN |
9 |
60,595,128 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL03244:Lrrc49
|
APN |
9 |
60,495,140 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03392:Lrrc49
|
APN |
9 |
60,573,563 (GRCm39) |
splice site |
probably benign |
|
IGL02837:Lrrc49
|
UTSW |
9 |
60,517,605 (GRCm39) |
missense |
probably benign |
0.00 |
R0164:Lrrc49
|
UTSW |
9 |
60,587,883 (GRCm39) |
missense |
probably benign |
0.26 |
R0164:Lrrc49
|
UTSW |
9 |
60,587,883 (GRCm39) |
missense |
probably benign |
0.26 |
R0335:Lrrc49
|
UTSW |
9 |
60,584,378 (GRCm39) |
missense |
probably damaging |
0.99 |
R0399:Lrrc49
|
UTSW |
9 |
60,517,529 (GRCm39) |
splice site |
probably benign |
|
R0607:Lrrc49
|
UTSW |
9 |
60,573,640 (GRCm39) |
missense |
probably benign |
0.35 |
R1396:Lrrc49
|
UTSW |
9 |
60,587,810 (GRCm39) |
missense |
probably damaging |
0.99 |
R1731:Lrrc49
|
UTSW |
9 |
60,528,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R1800:Lrrc49
|
UTSW |
9 |
60,505,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R1817:Lrrc49
|
UTSW |
9 |
60,510,059 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1876:Lrrc49
|
UTSW |
9 |
60,495,060 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1925:Lrrc49
|
UTSW |
9 |
60,556,773 (GRCm39) |
missense |
probably benign |
0.07 |
R2172:Lrrc49
|
UTSW |
9 |
60,509,965 (GRCm39) |
missense |
probably benign |
0.25 |
R2233:Lrrc49
|
UTSW |
9 |
60,505,440 (GRCm39) |
missense |
possibly damaging |
0.57 |
R2235:Lrrc49
|
UTSW |
9 |
60,505,440 (GRCm39) |
missense |
possibly damaging |
0.57 |
R2927:Lrrc49
|
UTSW |
9 |
60,501,029 (GRCm39) |
nonsense |
probably null |
|
R3955:Lrrc49
|
UTSW |
9 |
60,578,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R4214:Lrrc49
|
UTSW |
9 |
60,573,609 (GRCm39) |
missense |
probably benign |
0.33 |
R4772:Lrrc49
|
UTSW |
9 |
60,592,335 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5283:Lrrc49
|
UTSW |
9 |
60,594,461 (GRCm39) |
missense |
probably benign |
0.06 |
R5801:Lrrc49
|
UTSW |
9 |
60,509,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R6115:Lrrc49
|
UTSW |
9 |
60,522,444 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6525:Lrrc49
|
UTSW |
9 |
60,505,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R6540:Lrrc49
|
UTSW |
9 |
60,592,335 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6550:Lrrc49
|
UTSW |
9 |
60,584,430 (GRCm39) |
missense |
probably benign |
0.13 |
R6603:Lrrc49
|
UTSW |
9 |
60,501,052 (GRCm39) |
splice site |
probably null |
|
R6878:Lrrc49
|
UTSW |
9 |
60,587,431 (GRCm39) |
missense |
probably damaging |
0.99 |
R7144:Lrrc49
|
UTSW |
9 |
60,522,439 (GRCm39) |
missense |
probably damaging |
0.99 |
R7336:Lrrc49
|
UTSW |
9 |
60,584,474 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7541:Lrrc49
|
UTSW |
9 |
60,517,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R7608:Lrrc49
|
UTSW |
9 |
60,510,005 (GRCm39) |
missense |
probably null |
1.00 |
R7739:Lrrc49
|
UTSW |
9 |
60,500,975 (GRCm39) |
missense |
probably benign |
|
R8097:Lrrc49
|
UTSW |
9 |
60,522,331 (GRCm39) |
missense |
probably benign |
|
R8220:Lrrc49
|
UTSW |
9 |
60,517,613 (GRCm39) |
missense |
probably benign |
|
R8442:Lrrc49
|
UTSW |
9 |
60,500,908 (GRCm39) |
missense |
probably benign |
0.01 |
R8458:Lrrc49
|
UTSW |
9 |
60,505,456 (GRCm39) |
missense |
probably benign |
0.00 |
R8692:Lrrc49
|
UTSW |
9 |
60,594,445 (GRCm39) |
missense |
probably damaging |
0.97 |
R9036:Lrrc49
|
UTSW |
9 |
60,495,150 (GRCm39) |
missense |
probably benign |
0.17 |
R9126:Lrrc49
|
UTSW |
9 |
60,578,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R9339:Lrrc49
|
UTSW |
9 |
60,510,031 (GRCm39) |
missense |
probably benign |
0.04 |
R9456:Lrrc49
|
UTSW |
9 |
60,594,699 (GRCm39) |
missense |
probably benign |
0.01 |
R9661:Lrrc49
|
UTSW |
9 |
60,573,582 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Lrrc49
|
UTSW |
9 |
60,584,504 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Lrrc49
|
UTSW |
9 |
60,505,376 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGAAAACATGCTCGAGGGC -3'
(R):5'- TCAGCAGTGCGTTACAAGGC -3'
Sequencing Primer
(F):5'- GGTCTTTTCTACTGAAAGAAGGACTG -3'
(R):5'- ACAAGGCTTGTCTGTCACAG -3'
|
Posted On |
2018-06-06 |