Incidental Mutation 'R4214:Lrrc49'
| ID |
319353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc49
|
| Ensembl Gene |
ENSMUSG00000047766 |
| Gene Name |
leucine rich repeat containing 49 |
| Synonyms |
D430025H09Rik |
| MMRRC Submission |
041041-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R4214 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
60494507-60595460 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 60573609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 225
(T225M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065603]
[ENSMUST00000114032]
[ENSMUST00000114034]
[ENSMUST00000150060]
[ENSMUST00000166168]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065603
AA Change: T291M
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000070606
Gene: ENSMUSG00000047766
AA Change: T291M
| 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: T219M
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000109666
Gene: ENSMUSG00000047766
AA Change: T219M
| 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: T225M
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000109668
Gene: ENSMUSG00000047766
AA Change: T225M
| 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: ENSMUST00000128877
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150060
AA Change: T225M
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118205
Gene: ENSMUSG00000047766
AA Change: T225M
| 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: T285M
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128842
Gene: ENSMUSG00000047766
AA Change: T285M
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.5%
|
| Validation Efficiency |
98% (64/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730013G03Rik |
C |
T |
1: 192,515,845 (GRCm39) |
|
noncoding transcript |
Het |
| Abca12 |
T |
A |
1: 71,327,856 (GRCm39) |
D1408V |
probably damaging |
Het |
| Abca13 |
A |
T |
11: 9,243,877 (GRCm39) |
L1913F |
probably damaging |
Het |
| Acad9 |
A |
G |
3: 36,127,752 (GRCm39) |
E118G |
probably damaging |
Het |
| Adamts5 |
G |
A |
16: 85,665,531 (GRCm39) |
A590V |
probably damaging |
Het |
| Ano6 |
A |
C |
15: 95,863,790 (GRCm39) |
Y791S |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,346,603 (GRCm39) |
|
probably null |
Het |
| Aox4 |
T |
A |
1: 58,261,051 (GRCm39) |
I128N |
probably damaging |
Het |
| Atp2b3 |
A |
G |
X: 72,613,921 (GRCm39) |
M1142V |
probably benign |
Het |
| AU041133 |
A |
G |
10: 81,987,223 (GRCm39) |
H292R |
probably damaging |
Het |
| Bco2 |
A |
G |
9: 50,456,666 (GRCm39) |
M158T |
probably benign |
Het |
| Bpnt1 |
T |
A |
1: 185,077,626 (GRCm39) |
|
probably benign |
Het |
| Cadm1 |
A |
G |
9: 47,708,741 (GRCm39) |
D157G |
probably damaging |
Het |
| Catsperg1 |
T |
C |
7: 28,895,357 (GRCm39) |
R499G |
possibly damaging |
Het |
| Ccr7 |
T |
C |
11: 99,035,872 (GRCm39) |
E350G |
probably damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,486,076 (GRCm39) |
S524R |
probably benign |
Het |
| Cep78 |
T |
C |
19: 15,936,943 (GRCm39) |
T588A |
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,966,840 (GRCm39) |
E282D |
possibly damaging |
Het |
| Drd2 |
A |
G |
9: 49,316,221 (GRCm39) |
K327R |
probably benign |
Het |
| Erich5 |
C |
T |
15: 34,471,557 (GRCm39) |
P262L |
possibly damaging |
Het |
| Ezh2 |
A |
C |
6: 47,510,748 (GRCm39) |
D578E |
probably damaging |
Het |
| Fez1 |
A |
G |
9: 36,781,784 (GRCm39) |
N20S |
probably damaging |
Het |
| Folr2 |
T |
G |
7: 101,492,906 (GRCm39) |
K39T |
probably damaging |
Het |
| Gm10549 |
G |
T |
18: 33,597,530 (GRCm39) |
|
probably null |
Het |
| Gm14393 |
C |
T |
2: 174,903,640 (GRCm39) |
C89Y |
probably benign |
Het |
| Gm5329 |
T |
G |
7: 31,671,828 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7367 |
A |
G |
7: 59,805,517 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr162 |
A |
T |
6: 124,837,031 (GRCm39) |
W338R |
probably damaging |
Het |
| Ift80 |
A |
T |
3: 68,898,141 (GRCm39) |
F65I |
possibly damaging |
Het |
| Klra6 |
T |
G |
6: 129,995,885 (GRCm39) |
I158L |
probably benign |
Het |
| Lpp |
T |
A |
16: 24,580,804 (GRCm39) |
Y173* |
probably null |
Het |
| Lrp12 |
A |
G |
15: 39,735,976 (GRCm39) |
V671A |
probably benign |
Het |
| Lrrc27 |
C |
T |
7: 138,803,609 (GRCm39) |
R178C |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,054,793 (GRCm39) |
S1915T |
probably benign |
Het |
| Mmadhc |
T |
C |
2: 50,181,344 (GRCm39) |
T109A |
probably benign |
Het |
| Mon2 |
T |
C |
10: 122,852,397 (GRCm39) |
E992G |
probably benign |
Het |
| Msl3 |
A |
G |
X: 167,450,059 (GRCm39) |
I267T |
probably damaging |
Het |
| Msl3 |
A |
T |
X: 167,445,430 (GRCm39) |
N430K |
probably damaging |
Het |
| Nab2 |
G |
T |
10: 127,500,917 (GRCm39) |
Y25* |
probably null |
Het |
| Notch3 |
T |
C |
17: 32,351,181 (GRCm39) |
E1938G |
possibly damaging |
Het |
| Or5ae2 |
C |
T |
7: 84,506,497 (GRCm39) |
H307Y |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,354,167 (GRCm39) |
T44A |
probably damaging |
Het |
| Pdpr |
A |
G |
8: 111,856,212 (GRCm39) |
|
probably benign |
Het |
| Pfkp |
A |
G |
13: 6,669,261 (GRCm39) |
S241P |
probably damaging |
Het |
| Phgdh |
A |
T |
3: 98,235,377 (GRCm39) |
S166T |
possibly damaging |
Het |
| Plcl1 |
C |
T |
1: 55,790,494 (GRCm39) |
Q1055* |
probably null |
Het |
| Plscr2 |
A |
G |
9: 92,169,790 (GRCm39) |
N80S |
probably benign |
Het |
| Polr3k |
A |
T |
2: 181,510,035 (GRCm39) |
M80L |
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,171,383 (GRCm39) |
D304G |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,355,285 (GRCm39) |
T1529A |
probably damaging |
Het |
| Rcvrn |
A |
T |
11: 67,586,514 (GRCm39) |
H91L |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Tbx18 |
T |
C |
9: 87,606,518 (GRCm39) |
Y209C |
probably damaging |
Het |
| Themis3 |
T |
C |
17: 66,867,012 (GRCm39) |
N76S |
probably benign |
Het |
| Trhde |
A |
T |
10: 114,623,975 (GRCm39) |
S310T |
possibly damaging |
Het |
| Vmn1r213 |
G |
A |
13: 23,196,173 (GRCm39) |
C252Y |
possibly damaging |
Het |
| Zfp523 |
T |
C |
17: 28,420,003 (GRCm39) |
V216A |
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 |
|
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'- ACCAACAGCCTTTGTCATCC -3'
(R):5'- GACTTCATAAGACTTGCAGCATAAGAC -3'
Sequencing Primer
(F):5'- TCTAATTCAGTGCTCAGGACAAAGG -3'
(R):5'- GTTCTAAACCTTGCCAGG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation