Incidental Mutation 'IGL02837:Lrrc49'
| ID |
391919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc49
|
| Ensembl Gene |
ENSMUSG00000047766 |
| Gene Name |
leucine rich repeat containing 49 |
| Synonyms |
D430025H09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
IGL02837 (G1)
|
| Quality Score |
175 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
60494507-60595460 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60517605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 75
(S75P)
|
| 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 benign
Transcript: ENSMUST00000053171
AA Change: S75P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000057014
Gene: ENSMUSG00000047766
AA Change: S75P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065603
AA Change: S435P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000070606
Gene: ENSMUSG00000047766
AA Change: S435P
| 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: S363P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109666
Gene: ENSMUSG00000047766
AA Change: S363P
| 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: S369P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109668
Gene: ENSMUSG00000047766
AA Change: S369P
| 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
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000150398
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166168
AA Change: S429P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128842
Gene: ENSMUSG00000047766
AA Change: S429P
| 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 |
0.0674 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
C |
T |
17: 36,268,473 (GRCm39) |
V786I |
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,881,432 (GRCm39) |
N803S |
probably benign |
Het |
| Ago4 |
C |
G |
4: 126,391,093 (GRCm39) |
G730R |
possibly damaging |
Het |
| Amn |
T |
A |
12: 111,238,333 (GRCm39) |
M55K |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,055,102 (GRCm39) |
Y1334F |
probably damaging |
Het |
| Arl14ep |
A |
C |
2: 106,799,574 (GRCm39) |
L89R |
probably damaging |
Het |
| Bcam |
T |
G |
7: 19,498,111 (GRCm39) |
E304A |
probably damaging |
Het |
| Car10 |
A |
T |
11: 93,488,077 (GRCm39) |
Y258F |
probably damaging |
Het |
| Cerk |
T |
A |
15: 86,028,896 (GRCm39) |
K82* |
probably null |
Het |
| Chac2 |
T |
C |
11: 30,927,496 (GRCm39) |
N141S |
probably damaging |
Het |
| Clpx |
T |
G |
9: 65,231,541 (GRCm39) |
L556R |
probably damaging |
Het |
| Csgalnact2 |
T |
C |
6: 118,101,364 (GRCm39) |
I55V |
probably benign |
Het |
| Cul1 |
T |
C |
6: 47,500,139 (GRCm39) |
V650A |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,269,546 (GRCm39) |
E895D |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,765,022 (GRCm39) |
K3841E |
probably damaging |
Het |
| Dpys |
A |
G |
15: 39,720,701 (GRCm39) |
S20P |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,470,471 (GRCm39) |
V1490I |
probably benign |
Het |
| Flg2 |
T |
G |
3: 93,109,044 (GRCm39) |
C357W |
probably damaging |
Het |
| Flt1 |
T |
A |
5: 147,591,980 (GRCm39) |
D494V |
probably benign |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,513 (GRCm39) |
D173E |
probably benign |
Het |
| Gm2666 |
G |
T |
1: 85,412,824 (GRCm39) |
|
noncoding transcript |
Het |
| Gm3867 |
C |
A |
9: 36,169,096 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5436 |
A |
T |
12: 84,305,374 (GRCm39) |
|
noncoding transcript |
Het |
| Kit |
G |
A |
5: 75,799,668 (GRCm39) |
V467I |
probably benign |
Het |
| Krtap4-16 |
A |
G |
11: 99,741,863 (GRCm39) |
V179A |
unknown |
Het |
| Lrp8 |
C |
A |
4: 107,718,478 (GRCm39) |
H693Q |
probably benign |
Het |
| Ltbp4 |
C |
A |
7: 27,013,806 (GRCm39) |
V1068L |
probably damaging |
Het |
| Magel2 |
C |
T |
7: 62,028,008 (GRCm39) |
P304L |
possibly damaging |
Het |
| Muc19 |
T |
A |
15: 91,766,850 (GRCm39) |
|
noncoding transcript |
Het |
| Npas3 |
T |
C |
12: 53,993,980 (GRCm39) |
V175A |
possibly damaging |
Het |
| Nr1h4 |
A |
T |
10: 89,352,342 (GRCm39) |
H8Q |
probably benign |
Het |
| Ntsr2 |
G |
A |
12: 16,703,876 (GRCm39) |
V126M |
probably damaging |
Het |
| Odf2 |
A |
T |
2: 29,816,725 (GRCm39) |
T725S |
probably damaging |
Het |
| Or52e19b |
C |
T |
7: 103,032,822 (GRCm39) |
C129Y |
probably damaging |
Het |
| Or5h17 |
C |
T |
16: 58,820,909 (GRCm39) |
P287L |
probably damaging |
Het |
| Or9s13 |
T |
C |
1: 92,548,404 (GRCm39) |
Y259H |
possibly damaging |
Het |
| Pgr |
T |
C |
9: 8,946,639 (GRCm39) |
|
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,603,562 (GRCm39) |
C249* |
probably null |
Het |
| Plcd3 |
C |
T |
11: 102,961,929 (GRCm39) |
V726M |
possibly damaging |
Het |
| Prl8a1 |
A |
G |
13: 27,759,617 (GRCm39) |
L140P |
probably damaging |
Het |
| Prpf6 |
C |
A |
2: 181,264,056 (GRCm39) |
D239E |
probably damaging |
Het |
| Rcc1 |
C |
T |
4: 132,065,067 (GRCm39) |
R139H |
probably benign |
Het |
| Rimbp2 |
G |
T |
5: 128,874,809 (GRCm39) |
Q268K |
probably damaging |
Het |
| Rps19-ps13 |
A |
T |
18: 40,859,447 (GRCm39) |
|
noncoding transcript |
Het |
| Sema4c |
C |
A |
1: 36,591,965 (GRCm39) |
G266V |
probably damaging |
Het |
| Sema4g |
T |
C |
19: 44,985,150 (GRCm39) |
F156S |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Speer4f1 |
G |
T |
5: 17,685,381 (GRCm39) |
L225F |
unknown |
Het |
| Thrap3 |
T |
C |
4: 126,059,157 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf8 |
T |
C |
4: 144,995,568 (GRCm39) |
E497G |
probably benign |
Het |
| Trim3 |
T |
C |
7: 105,261,863 (GRCm39) |
N631S |
probably damaging |
Het |
| Trim45 |
C |
T |
3: 100,838,943 (GRCm39) |
|
probably benign |
Het |
| Wdr43 |
A |
G |
17: 71,949,731 (GRCm39) |
D445G |
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 |
|
|
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 |
|
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'- TCATTAGGGAAATGTTACAGCCAG -3'
(R):5'- TGCCTGACAGGAATTCCCTC -3'
Sequencing Primer
(F):5'- TGTGAAACGGTCTCCCA -3'
(R):5'- TGACAGGAATTCCCTCTCAGAAAG -3'
|
| Posted On |
2016-06-08 |
Incidental Mutation