Incidental Mutation 'R5283:Lrrc49'
ID |
402881 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc49
|
Ensembl Gene |
ENSMUSG00000047766 |
Gene Name |
leucine rich repeat containing 49 |
Synonyms |
D430025H09Rik |
MMRRC Submission |
042868-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R5283 (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 T
at 60594461 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 16
(H16Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121491
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065603]
[ENSMUST00000114032]
[ENSMUST00000114034]
[ENSMUST00000132366]
[ENSMUST00000150060]
[ENSMUST00000166168]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065603
AA Change: H22Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000070606 Gene: ENSMUSG00000047766 AA Change: H22Q
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: H16Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109666 Gene: ENSMUSG00000047766 AA Change: H16Q
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: H22Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000109668 Gene: ENSMUSG00000047766 AA Change: H22Q
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: ENSMUST00000132366
AA Change: H16Q
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150060
AA Change: H22Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000118205 Gene: ENSMUSG00000047766 AA Change: H22Q
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: H16Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000128842 Gene: ENSMUSG00000047766 AA Change: H16Q
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181046
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamp |
C |
T |
1: 74,323,165 (GRCm39) |
E53K |
possibly damaging |
Het |
Amotl1 |
T |
C |
9: 14,469,780 (GRCm39) |
E651G |
probably damaging |
Het |
Ankrd11 |
A |
C |
8: 123,610,921 (GRCm39) |
V2655G |
probably damaging |
Het |
Apbb1ip |
G |
A |
2: 22,757,683 (GRCm39) |
V434M |
probably benign |
Het |
Atp5pd |
T |
C |
11: 115,306,611 (GRCm39) |
Y150C |
probably damaging |
Het |
Ccdc13 |
T |
A |
9: 121,637,254 (GRCm39) |
D75V |
probably damaging |
Het |
Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
Crh |
T |
C |
3: 19,748,171 (GRCm39) |
H157R |
probably damaging |
Het |
Cstdc6 |
T |
C |
16: 36,142,205 (GRCm39) |
D57G |
probably damaging |
Het |
Dpp4 |
G |
A |
2: 62,190,680 (GRCm39) |
T392I |
probably damaging |
Het |
Ehd3 |
G |
T |
17: 74,127,498 (GRCm39) |
A144S |
probably benign |
Het |
Fnip2 |
A |
T |
3: 79,373,015 (GRCm39) |
I1021N |
probably damaging |
Het |
Fus |
T |
A |
7: 127,584,719 (GRCm39) |
|
probably benign |
Het |
Glo1 |
T |
C |
17: 30,819,047 (GRCm39) |
T92A |
probably benign |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm15130 |
A |
C |
2: 110,965,754 (GRCm39) |
M165R |
unknown |
Het |
Gon4l |
T |
C |
3: 88,794,897 (GRCm39) |
L700P |
probably damaging |
Het |
Grm1 |
C |
A |
10: 10,608,936 (GRCm39) |
D566Y |
possibly damaging |
Het |
Guca1b |
T |
C |
17: 47,702,195 (GRCm39) |
|
probably benign |
Het |
Has3 |
A |
G |
8: 107,600,747 (GRCm39) |
M70V |
probably damaging |
Het |
Hydin |
G |
T |
8: 111,178,612 (GRCm39) |
C1069F |
possibly damaging |
Het |
Ints1 |
A |
C |
5: 139,750,137 (GRCm39) |
L920R |
probably damaging |
Het |
Kdm2a |
T |
C |
19: 4,381,297 (GRCm39) |
I54V |
probably benign |
Het |
Kpna2 |
G |
A |
11: 106,881,658 (GRCm39) |
T324I |
probably damaging |
Het |
Lrr1 |
T |
C |
12: 69,221,428 (GRCm39) |
L190S |
probably damaging |
Het |
Mab21l4 |
C |
T |
1: 93,087,575 (GRCm39) |
D93N |
probably benign |
Het |
Mapkap1 |
A |
G |
2: 34,334,360 (GRCm39) |
E147G |
probably damaging |
Het |
Mrpl2 |
C |
T |
17: 46,959,992 (GRCm39) |
R219W |
possibly damaging |
Het |
Muc21 |
A |
G |
17: 35,932,224 (GRCm39) |
|
probably benign |
Het |
Ndc80 |
A |
G |
17: 71,828,130 (GRCm39) |
S66P |
probably benign |
Het |
Notch1 |
A |
G |
2: 26,358,638 (GRCm39) |
Y1398H |
probably damaging |
Het |
Olfml2b |
C |
T |
1: 170,508,758 (GRCm39) |
R539* |
probably null |
Het |
Or6b9 |
T |
A |
7: 106,555,955 (GRCm39) |
T63S |
probably benign |
Het |
Pde7a |
T |
C |
3: 19,314,420 (GRCm39) |
T59A |
probably damaging |
Het |
Plekhg1 |
G |
A |
10: 3,906,654 (GRCm39) |
V524I |
probably benign |
Het |
Plin4 |
T |
A |
17: 56,413,777 (GRCm39) |
M283L |
probably benign |
Het |
Prp2 |
C |
T |
6: 132,577,606 (GRCm39) |
P298S |
unknown |
Het |
Rap1gap2 |
G |
A |
11: 74,286,651 (GRCm39) |
R550C |
probably damaging |
Het |
Reln |
G |
A |
5: 22,216,161 (GRCm39) |
T1008I |
probably damaging |
Het |
Rffl |
T |
C |
11: 82,703,615 (GRCm39) |
K103E |
probably damaging |
Het |
Rmnd5b |
A |
T |
11: 51,517,887 (GRCm39) |
F156I |
probably damaging |
Het |
Rtn4ip1 |
T |
C |
10: 43,778,461 (GRCm39) |
I68T |
probably damaging |
Het |
Samhd1 |
T |
C |
2: 156,951,412 (GRCm39) |
I442V |
possibly damaging |
Het |
Slc12a4 |
A |
T |
8: 106,677,326 (GRCm39) |
|
probably null |
Het |
Slc35b1 |
G |
T |
11: 95,275,814 (GRCm39) |
|
probably benign |
Het |
Ssh1 |
A |
G |
5: 114,088,606 (GRCm39) |
V354A |
probably damaging |
Het |
Stk33 |
T |
C |
7: 108,935,334 (GRCm39) |
K153E |
possibly damaging |
Het |
Stk4 |
C |
T |
2: 163,952,199 (GRCm39) |
R19* |
probably null |
Het |
Tas2r136 |
A |
T |
6: 132,754,374 (GRCm39) |
I251N |
probably damaging |
Het |
Tbr1 |
A |
T |
2: 61,635,244 (GRCm39) |
T65S |
probably benign |
Het |
Tkt |
C |
T |
14: 30,282,575 (GRCm39) |
S124F |
probably damaging |
Het |
Tll1 |
T |
C |
8: 64,555,000 (GRCm39) |
I228V |
possibly damaging |
Het |
Tmem236 |
A |
G |
2: 14,179,644 (GRCm39) |
I82V |
probably benign |
Het |
Vmn2r110 |
T |
C |
17: 20,800,899 (GRCm39) |
Q511R |
probably benign |
Het |
Vmn2r98 |
T |
C |
17: 19,300,981 (GRCm39) |
M661T |
probably benign |
Het |
Vps13a |
T |
A |
19: 16,655,334 (GRCm39) |
K1898I |
probably damaging |
Het |
Zc3h12a |
T |
C |
4: 125,020,558 (GRCm39) |
E95G |
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 |
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 |
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'- TTGATACAAGAGGGATGATTTGGC -3'
(R):5'- TACAAGGTGGGTGAAATCCG -3'
Sequencing Primer
(F):5'- ACAAGAGGGATGATTTGGCTTTATG -3'
(R):5'- TGGGTGAAATCCGTGCCTC -3'
|
Posted On |
2016-07-22 |