Incidental Mutation 'R6115:Lrrc49'
| ID |
485086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc49
|
| Ensembl Gene |
ENSMUSG00000047766 |
| Gene Name |
leucine rich repeat containing 49 |
| Synonyms |
D430025H09Rik |
| MMRRC Submission |
044264-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R6115 (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 60522444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 307
(V307E)
|
| 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: V19E
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000057014
Gene: ENSMUSG00000047766
AA Change: V19E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065603
AA Change: V379E
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000070606
Gene: ENSMUSG00000047766
AA Change: V379E
| 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: V307E
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109666
Gene: ENSMUSG00000047766
AA Change: V307E
| 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: V313E
PolyPhen 2
Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109668
Gene: ENSMUSG00000047766
AA Change: V313E
| 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: V313E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000118205
Gene: ENSMUSG00000047766
AA Change: V313E
| 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: V373E
PolyPhen 2
Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128842
Gene: ENSMUSG00000047766
AA Change: V373E
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
C |
G |
5: 64,055,317 (GRCm39) |
Q18E |
probably damaging |
Het |
| Acsf3 |
T |
A |
8: 123,517,411 (GRCm39) |
H402Q |
probably damaging |
Het |
| Adam34 |
T |
G |
8: 44,105,098 (GRCm39) |
Q182H |
probably benign |
Het |
| Alx1 |
G |
A |
10: 102,864,304 (GRCm39) |
P55L |
possibly damaging |
Het |
| Arhgef38 |
A |
T |
3: 132,838,374 (GRCm39) |
|
probably null |
Het |
| Ccdc102a |
T |
C |
8: 95,629,999 (GRCm39) |
N514S |
probably benign |
Het |
| Corin |
T |
A |
5: 72,518,072 (GRCm39) |
T317S |
probably damaging |
Het |
| Ctnna2 |
A |
G |
6: 77,613,822 (GRCm39) |
V256A |
probably benign |
Het |
| Dhx29 |
A |
T |
13: 113,089,335 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
C |
A |
11: 69,337,475 (GRCm39) |
D3209Y |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,363,194 (GRCm39) |
T3919A |
probably benign |
Het |
| F7 |
T |
A |
8: 13,083,958 (GRCm39) |
N214K |
probably benign |
Het |
| Fam3b |
T |
G |
16: 97,276,568 (GRCm39) |
Q177H |
possibly damaging |
Het |
| Fign |
T |
C |
2: 63,809,654 (GRCm39) |
I539V |
probably benign |
Het |
| Hc |
T |
G |
2: 34,903,050 (GRCm39) |
D1067A |
probably damaging |
Het |
| Herc6 |
A |
G |
6: 57,560,191 (GRCm39) |
D77G |
probably benign |
Het |
| Hmg20a |
A |
T |
9: 56,397,116 (GRCm39) |
E305D |
possibly damaging |
Het |
| Il16 |
G |
A |
7: 83,301,775 (GRCm39) |
Q116* |
probably null |
Het |
| Kif13a |
T |
A |
13: 46,954,789 (GRCm39) |
I648F |
probably damaging |
Het |
| Lactb |
G |
T |
9: 66,874,969 (GRCm39) |
N374K |
possibly damaging |
Het |
| Lmx1b |
T |
C |
2: 33,459,118 (GRCm39) |
D145G |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,663,937 (GRCm39) |
D199G |
probably damaging |
Het |
| Magi1 |
A |
C |
6: 93,685,051 (GRCm39) |
S776A |
possibly damaging |
Het |
| Mthfsl |
T |
A |
9: 88,570,807 (GRCm39) |
*147L |
probably null |
Het |
| Nsmce4a |
G |
T |
7: 130,148,722 (GRCm39) |
Q95K |
probably benign |
Het |
| Or1j15 |
A |
T |
2: 36,458,963 (GRCm39) |
M118L |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,558 (GRCm39) |
T265A |
probably benign |
Het |
| Or4k49 |
A |
T |
2: 111,494,987 (GRCm39) |
K139* |
probably null |
Het |
| Or5b24 |
T |
C |
19: 12,912,948 (GRCm39) |
V282A |
possibly damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,107,788 (GRCm39) |
E271G |
probably damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,596 (GRCm39) |
F551I |
possibly damaging |
Het |
| Prpf31 |
T |
C |
7: 3,642,705 (GRCm39) |
|
probably null |
Het |
| Qrfpr |
C |
T |
3: 36,236,742 (GRCm39) |
V220I |
possibly damaging |
Het |
| Rnf170 |
T |
C |
8: 26,615,994 (GRCm39) |
F95S |
possibly damaging |
Het |
| Scn9a |
T |
A |
2: 66,393,973 (GRCm39) |
Y200F |
possibly damaging |
Het |
| Sfpq |
A |
T |
4: 126,915,141 (GRCm39) |
|
probably null |
Het |
| Slc9c1 |
A |
T |
16: 45,376,132 (GRCm39) |
Y406F |
probably damaging |
Het |
| Stk32c |
G |
T |
7: 138,700,628 (GRCm39) |
Y200* |
probably null |
Het |
| Svil |
A |
G |
18: 5,108,675 (GRCm39) |
R1938G |
probably damaging |
Het |
| Sycp2 |
G |
C |
2: 177,990,038 (GRCm39) |
R1403G |
probably benign |
Het |
| Tm9sf4 |
T |
C |
2: 153,024,409 (GRCm39) |
|
probably null |
Het |
| Tmc3 |
A |
T |
7: 83,264,170 (GRCm39) |
M633L |
possibly damaging |
Het |
| Tmem163 |
T |
C |
1: 127,605,185 (GRCm39) |
D61G |
possibly damaging |
Het |
| Unc5b |
C |
A |
10: 60,613,325 (GRCm39) |
A304S |
probably benign |
Het |
| Vmn2r106 |
G |
A |
17: 20,488,638 (GRCm39) |
P587L |
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,462 (GRCm39) |
S221T |
possibly damaging |
Het |
| Vmn2r85 |
T |
G |
10: 130,258,672 (GRCm39) |
Y461S |
probably damaging |
Het |
| Yod1 |
T |
C |
1: 130,646,800 (GRCm39) |
F226L |
possibly damaging |
Het |
| Zbtb4 |
T |
C |
11: 69,667,148 (GRCm39) |
I151T |
probably damaging |
Het |
| Zfp110 |
A |
T |
7: 12,583,701 (GRCm39) |
Q783L |
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 |
|
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 |
|
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'- AGGTCTAGTCACCATAGTAACCC -3'
(R):5'- AATAGGTGTGGACTTAGAAATACGC -3'
Sequencing Primer
(F):5'- CATAGTAACCCATGAGAGTTTCCAGG -3'
(R):5'- GGTGTGGACTTAGAAATACGCAATTC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation