Incidental Mutation 'R1876:Lrrc49'
| ID |
211236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc49
|
| Ensembl Gene |
ENSMUSG00000047766 |
| Gene Name |
leucine rich repeat containing 49 |
| Synonyms |
D430025H09Rik |
| MMRRC Submission |
039898-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R1876 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
60494507-60595460 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60495060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 652
(I652V)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000053171
AA Change: I364V
PolyPhen 2
Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000057014
Gene: ENSMUSG00000047766
AA Change: I364V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065603
AA Change: I724V
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000070606
Gene: ENSMUSG00000047766
AA Change: I724V
| 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 |
possibly damaging
Transcript: ENSMUST00000114032
AA Change: I652V
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109666
Gene: ENSMUSG00000047766
AA Change: I652V
| 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: I658V
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109668
Gene: ENSMUSG00000047766
AA Change: I658V
| 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: I718V
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128842
Gene: ENSMUSG00000047766
AA Change: I718V
| 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 |
0.1620 |
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.2%
|
| Validation Efficiency |
99% (82/83) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
C |
A |
5: 77,025,396 (GRCm39) |
C961F |
probably damaging |
Het |
| Abca16 |
A |
C |
7: 120,032,608 (GRCm39) |
D209A |
probably damaging |
Het |
| Adamts14 |
T |
C |
10: 61,036,151 (GRCm39) |
I1047V |
probably benign |
Het |
| Ak1 |
A |
G |
2: 32,520,282 (GRCm39) |
K27E |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,011,809 (GRCm39) |
D837E |
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,473,104 (GRCm39) |
Y1653C |
probably damaging |
Het |
| Atad2 |
T |
G |
15: 57,970,264 (GRCm39) |
I446L |
probably benign |
Het |
| Atp8b3 |
T |
G |
10: 80,365,912 (GRCm39) |
T313P |
possibly damaging |
Het |
| Btg4 |
T |
C |
9: 51,028,489 (GRCm39) |
L72S |
probably damaging |
Het |
| Canx |
A |
G |
11: 50,195,186 (GRCm39) |
I294T |
probably damaging |
Het |
| Casp1 |
G |
A |
9: 5,303,663 (GRCm39) |
E250K |
probably benign |
Het |
| Chchd10 |
T |
A |
10: 75,772,166 (GRCm39) |
S46T |
probably benign |
Het |
| Col12a1 |
G |
T |
9: 79,585,563 (GRCm39) |
Y1271* |
probably null |
Het |
| Col3a1 |
G |
A |
1: 45,381,395 (GRCm39) |
|
probably null |
Het |
| Ctc1 |
A |
T |
11: 68,922,390 (GRCm39) |
T872S |
probably benign |
Het |
| Cx3cl1 |
T |
C |
8: 95,507,048 (GRCm39) |
F351S |
probably damaging |
Het |
| Cyb5r4 |
T |
A |
9: 86,937,867 (GRCm39) |
H295Q |
probably damaging |
Het |
| Cyp2j7 |
T |
C |
4: 96,105,656 (GRCm39) |
T285A |
probably benign |
Het |
| Dip2a |
G |
A |
10: 76,153,925 (GRCm39) |
T135M |
probably damaging |
Het |
| Eif1ad18 |
T |
G |
12: 88,050,810 (GRCm39) |
I115S |
probably damaging |
Het |
| Fgf10 |
A |
G |
13: 118,925,695 (GRCm39) |
E158G |
probably damaging |
Het |
| Ftcd |
G |
T |
10: 76,417,403 (GRCm39) |
A281S |
probably benign |
Het |
| Gpat4 |
A |
T |
8: 23,669,486 (GRCm39) |
M333K |
possibly damaging |
Het |
| Gpcpd1 |
A |
G |
2: 132,376,673 (GRCm39) |
L541P |
probably damaging |
Het |
| Grk5 |
T |
C |
19: 61,071,663 (GRCm39) |
Y408H |
probably damaging |
Het |
| Hcrtr2 |
A |
G |
9: 76,153,627 (GRCm39) |
|
probably null |
Het |
| Hsd17b13 |
T |
A |
5: 104,116,633 (GRCm39) |
N127I |
probably damaging |
Het |
| Hspa4 |
T |
G |
11: 53,174,983 (GRCm39) |
D158A |
probably benign |
Het |
| Ice2 |
G |
A |
9: 69,322,857 (GRCm39) |
A451T |
possibly damaging |
Het |
| Inpp5e |
A |
T |
2: 26,298,169 (GRCm39) |
I144K |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Man1a |
A |
T |
10: 53,795,268 (GRCm39) |
W571R |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,047,807 (GRCm39) |
S32P |
probably damaging |
Het |
| Mrpl40 |
A |
G |
16: 18,691,224 (GRCm39) |
I162T |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtmr12 |
T |
C |
15: 12,257,716 (GRCm39) |
W265R |
probably damaging |
Het |
| Mup21 |
C |
T |
4: 62,067,663 (GRCm39) |
V79I |
probably benign |
Het |
| Myh11 |
G |
A |
16: 14,086,967 (GRCm39) |
|
probably benign |
Het |
| Myom3 |
T |
A |
4: 135,506,711 (GRCm39) |
F495I |
probably benign |
Het |
| Ncoa7 |
A |
T |
10: 30,574,122 (GRCm39) |
|
probably benign |
Het |
| Nisch |
T |
C |
14: 30,895,594 (GRCm39) |
Y45C |
probably damaging |
Het |
| Nkain2 |
T |
A |
10: 32,766,435 (GRCm39) |
|
probably benign |
Het |
| Or1ak2 |
A |
T |
2: 36,827,775 (GRCm39) |
I215F |
possibly damaging |
Het |
| Or4k1 |
A |
G |
14: 50,377,629 (GRCm39) |
S156P |
probably damaging |
Het |
| Pdcl |
A |
C |
2: 37,245,708 (GRCm39) |
H98Q |
probably damaging |
Het |
| Pink1 |
A |
G |
4: 138,043,013 (GRCm39) |
V427A |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,769,067 (GRCm39) |
S2242P |
probably damaging |
Het |
| Plrg1 |
C |
A |
3: 82,976,375 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
A |
G |
10: 94,702,803 (GRCm39) |
F586S |
possibly damaging |
Het |
| Pnpla7 |
G |
A |
2: 24,930,985 (GRCm39) |
V867M |
possibly damaging |
Het |
| Ppfia3 |
T |
A |
7: 45,001,631 (GRCm39) |
D427V |
possibly damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,521,971 (GRCm39) |
|
probably benign |
Het |
| Pros1 |
A |
T |
16: 62,723,881 (GRCm39) |
S210C |
probably damaging |
Het |
| Ptk2b |
A |
G |
14: 66,395,841 (GRCm39) |
S839P |
probably benign |
Het |
| Ptpre |
T |
C |
7: 135,280,046 (GRCm39) |
V570A |
possibly damaging |
Het |
| Rbm48 |
C |
T |
5: 3,645,259 (GRCm39) |
A142T |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,883,909 (GRCm39) |
|
probably null |
Het |
| Scnn1a |
A |
G |
6: 125,315,801 (GRCm39) |
E384G |
probably benign |
Het |
| Sec23ip |
A |
G |
7: 128,354,575 (GRCm39) |
Y277C |
probably benign |
Het |
| Slc25a29 |
G |
A |
12: 108,793,637 (GRCm39) |
T42M |
probably damaging |
Het |
| Slc6a4 |
A |
T |
11: 76,905,990 (GRCm39) |
T264S |
probably benign |
Het |
| Srgap3 |
A |
G |
6: 112,752,527 (GRCm39) |
M319T |
probably damaging |
Het |
| Strn4 |
T |
A |
7: 16,572,207 (GRCm39) |
I640N |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,225,475 (GRCm39) |
D739G |
probably benign |
Het |
| Tigd4 |
T |
A |
3: 84,501,242 (GRCm39) |
L53* |
probably null |
Het |
| Tlr6 |
T |
A |
5: 65,112,763 (GRCm39) |
D48V |
probably damaging |
Het |
| Tmem125 |
T |
C |
4: 118,399,101 (GRCm39) |
D110G |
probably damaging |
Het |
| Tmem198 |
A |
G |
1: 75,461,567 (GRCm39) |
D341G |
probably damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,880,682 (GRCm39) |
F462L |
possibly damaging |
Het |
| Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,410,486 (GRCm39) |
I2378N |
possibly damaging |
Het |
| Usp47 |
A |
G |
7: 111,654,127 (GRCm39) |
T108A |
probably damaging |
Het |
| Vmn1r236 |
T |
A |
17: 21,506,900 (GRCm39) |
I6K |
probably benign |
Het |
| Vmn2r65 |
A |
T |
7: 84,595,505 (GRCm39) |
V393D |
probably 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 |
|
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 |
|
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'- TGGTGTCTCATCATGTCTAACC -3'
(R):5'- AAGAATTCCCGCCCTGAAGG -3'
Sequencing Primer
(F):5'- TAACCTGCATCTTACCAAACTTCG -3'
(R):5'- GGACCAGGACCTGCAGAATTATTC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation