Incidental Mutation 'R2172:Lrrc49'
| ID |
237563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc49
|
| Ensembl Gene |
ENSMUSG00000047766 |
| Gene Name |
leucine rich repeat containing 49 |
| Synonyms |
D430025H09Rik |
| MMRRC Submission |
040174-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R2172 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
60494507-60595460 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60509965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 429
(V429A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053171]
[ENSMUST00000065603]
[ENSMUST00000114032]
[ENSMUST00000114034]
[ENSMUST00000150060]
[ENSMUST00000166168]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053171
AA Change: V141A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000057014
Gene: ENSMUSG00000047766
AA Change: V141A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065603
AA Change: V501A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000070606
Gene: ENSMUSG00000047766
AA Change: V501A
| 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 benign
Transcript: ENSMUST00000114032
AA Change: V429A
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000109666
Gene: ENSMUSG00000047766
AA Change: V429A
| 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 |
probably benign
Transcript: ENSMUST00000114034
AA Change: V435A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000109668
Gene: ENSMUSG00000047766
AA Change: V435A
| 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 |
probably benign
Transcript: ENSMUST00000166168
AA Change: V495A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000128842
Gene: ENSMUSG00000047766
AA Change: V495A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
T |
A |
18: 38,123,613 (GRCm39) |
E441V |
probably damaging |
Het |
| Arfip2 |
T |
A |
7: 105,287,195 (GRCm39) |
D64V |
probably damaging |
Het |
| Atg9a |
C |
A |
1: 75,162,329 (GRCm39) |
R527L |
probably damaging |
Het |
| Atp1a1 |
T |
G |
3: 101,497,864 (GRCm39) |
I308L |
probably benign |
Het |
| Bcan |
T |
A |
3: 87,903,888 (GRCm39) |
Y199F |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,987,191 (GRCm39) |
|
probably benign |
Het |
| Ccdc158 |
A |
T |
5: 92,780,367 (GRCm39) |
L902H |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,163,672 (GRCm39) |
Y492C |
probably benign |
Het |
| Dnah9 |
G |
T |
11: 65,963,605 (GRCm39) |
H1783N |
probably damaging |
Het |
| Dpep2 |
A |
G |
8: 106,715,630 (GRCm39) |
V320A |
possibly damaging |
Het |
| Dsc2 |
A |
G |
18: 20,178,559 (GRCm39) |
Y282H |
probably damaging |
Het |
| Egfr |
C |
T |
11: 16,861,562 (GRCm39) |
P1114S |
probably benign |
Het |
| Fastkd1 |
A |
G |
2: 69,530,477 (GRCm39) |
S560P |
probably damaging |
Het |
| Gm14295 |
G |
A |
2: 176,502,895 (GRCm39) |
R795Q |
possibly damaging |
Het |
| Gpr155 |
C |
T |
2: 73,212,471 (GRCm39) |
V51I |
probably benign |
Het |
| Gsap |
G |
A |
5: 21,427,438 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
T |
A |
13: 14,552,291 (GRCm39) |
I103F |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,864,422 (GRCm39) |
N685K |
probably damaging |
Het |
| Hnrnph1 |
T |
A |
11: 50,273,643 (GRCm39) |
D244E |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,308,681 (GRCm39) |
E3989G |
probably benign |
Het |
| Ibsp |
T |
C |
5: 104,458,296 (GRCm39) |
Y278H |
probably damaging |
Het |
| Ift57 |
T |
G |
16: 49,579,703 (GRCm39) |
N291K |
probably benign |
Het |
| Il15ra |
A |
G |
2: 11,728,382 (GRCm39) |
T149A |
possibly damaging |
Het |
| Ints5 |
C |
T |
19: 8,873,646 (GRCm39) |
T535I |
possibly damaging |
Het |
| Jarid2 |
T |
C |
13: 45,056,015 (GRCm39) |
L268P |
probably damaging |
Het |
| Klhdc7a |
T |
A |
4: 139,693,121 (GRCm39) |
T609S |
probably benign |
Het |
| Lsm3 |
T |
C |
6: 91,499,254 (GRCm39) |
V87A |
possibly damaging |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Map1a |
G |
T |
2: 121,138,413 (GRCm39) |
V2726L |
probably damaging |
Het |
| Marveld3 |
A |
C |
8: 110,688,478 (GRCm39) |
S88A |
probably benign |
Het |
| Mcm9 |
T |
C |
10: 53,424,670 (GRCm39) |
D640G |
probably damaging |
Het |
| Mettl4 |
A |
G |
17: 95,040,591 (GRCm39) |
I399T |
probably benign |
Het |
| Mmp27 |
T |
A |
9: 7,577,379 (GRCm39) |
L274* |
probably null |
Het |
| Nacc2 |
A |
C |
2: 25,950,235 (GRCm39) |
D500E |
probably benign |
Het |
| Nprl3 |
T |
A |
11: 32,184,894 (GRCm39) |
M372L |
probably benign |
Het |
| Or5p6 |
A |
T |
7: 107,630,674 (GRCm39) |
I292N |
probably damaging |
Het |
| Otud7b |
T |
G |
3: 96,060,837 (GRCm39) |
|
probably null |
Het |
| Pcx |
G |
A |
19: 4,670,909 (GRCm39) |
R1070H |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,426,855 (GRCm39) |
W1560* |
probably null |
Het |
| Puf60 |
A |
T |
15: 75,942,313 (GRCm39) |
I520N |
probably damaging |
Het |
| Qars1 |
C |
T |
9: 108,386,399 (GRCm39) |
R143C |
probably damaging |
Het |
| Rfx3 |
G |
A |
19: 27,792,894 (GRCm39) |
Q322* |
probably null |
Het |
| Samd14 |
G |
T |
11: 94,905,217 (GRCm39) |
V10L |
probably benign |
Het |
| Setd2 |
G |
A |
9: 110,378,912 (GRCm39) |
R909Q |
probably benign |
Het |
| Sh2d4a |
T |
C |
8: 68,749,316 (GRCm39) |
S117P |
probably benign |
Het |
| Sharpin |
C |
A |
15: 76,234,866 (GRCm39) |
|
probably benign |
Het |
| Skor1 |
C |
A |
9: 63,052,404 (GRCm39) |
A494S |
possibly damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,119,638 (GRCm39) |
T375A |
probably benign |
Het |
| Sparc |
G |
A |
11: 55,286,627 (GRCm39) |
Q324* |
probably null |
Het |
| Spopfm2 |
T |
G |
3: 94,083,605 (GRCm39) |
K69Q |
possibly damaging |
Het |
| Srebf1 |
T |
C |
11: 60,097,328 (GRCm39) |
T171A |
probably benign |
Het |
| Srrd |
A |
G |
5: 112,488,988 (GRCm39) |
I54T |
possibly damaging |
Het |
| Tecpr1 |
G |
T |
5: 144,133,235 (GRCm39) |
Q1072K |
probably damaging |
Het |
| Tecpr1 |
A |
T |
5: 144,148,274 (GRCm39) |
V377E |
probably benign |
Het |
| Tln1 |
T |
A |
4: 43,545,721 (GRCm39) |
H919L |
probably benign |
Het |
| Tm9sf3 |
C |
T |
19: 41,205,859 (GRCm39) |
S516N |
probably damaging |
Het |
| Trpa1 |
T |
A |
1: 14,951,880 (GRCm39) |
T940S |
probably benign |
Het |
| Trpv4 |
G |
A |
5: 114,782,771 (GRCm39) |
R64C |
probably damaging |
Het |
| Tufm |
A |
G |
7: 126,088,019 (GRCm39) |
E174G |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,757,841 (GRCm39) |
T1183A |
probably damaging |
Het |
| Virma |
A |
T |
4: 11,527,843 (GRCm39) |
M1245L |
possibly damaging |
Het |
| Vmn2r32 |
T |
C |
7: 7,477,614 (GRCm39) |
Y259C |
probably damaging |
Het |
| Zfp329 |
A |
G |
7: 12,544,694 (GRCm39) |
F277L |
probably damaging |
Het |
| Zfp683 |
C |
T |
4: 133,783,106 (GRCm39) |
T190I |
possibly damaging |
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 |
|
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 |
|
R6488:Lrrc49
|
UTSW |
9 |
60,509,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AAGTTGAAGCAGGCTTTGGC -3'
(R):5'- GTAAAGCACTTTCCAACATGCTGTTC -3'
Sequencing Primer
(F):5'- CTTTGGCCTGAACACACAAGTTG -3'
(R):5'- TACTTCCTTTGTGTGCCTGAGACG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation