Incidental Mutation 'R8458:Lrrc49'
| ID |
655127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc49
|
| Ensembl Gene |
ENSMUSG00000047766 |
| Gene Name |
leucine rich repeat containing 49 |
| Synonyms |
D430025H09Rik |
| MMRRC Submission |
067835-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R8458 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
60494507-60595460 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60505456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 605
(M605K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070606
(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: M245K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000057014
Gene: ENSMUSG00000047766
AA Change: M245K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065603
AA Change: M605K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000070606
Gene: ENSMUSG00000047766
AA Change: M605K
| 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: M533K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000109666
Gene: ENSMUSG00000047766
AA Change: M533K
| 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: M539K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000109668
Gene: ENSMUSG00000047766
AA Change: M539K
| 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: 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: M599K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000128842
Gene: ENSMUSG00000047766
AA Change: M599K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
T |
A |
15: 94,251,521 (GRCm39) |
H422L |
probably benign |
Het |
| Adgra3 |
G |
T |
5: 50,145,013 (GRCm39) |
P527T |
probably damaging |
Het |
| Afg1l |
A |
G |
10: 42,302,517 (GRCm39) |
V161A |
probably damaging |
Het |
| Als2cl |
A |
C |
9: 110,714,025 (GRCm39) |
E65A |
probably damaging |
Het |
| Arl3 |
A |
C |
19: 46,546,709 (GRCm39) |
S39A |
probably benign |
Het |
| Cacna1a |
T |
C |
8: 85,276,087 (GRCm39) |
V560A |
probably damaging |
Het |
| Ccr10 |
C |
T |
11: 101,064,982 (GRCm39) |
G183R |
probably damaging |
Het |
| Celsr2 |
T |
A |
3: 108,306,218 (GRCm39) |
T2029S |
probably benign |
Het |
| Chkb |
A |
T |
15: 89,312,376 (GRCm39) |
V213E |
possibly damaging |
Het |
| Chst5 |
A |
G |
8: 112,617,422 (GRCm39) |
V66A |
probably damaging |
Het |
| Crx |
C |
A |
7: 15,602,031 (GRCm39) |
A216S |
possibly damaging |
Het |
| Ctnnd1 |
T |
C |
2: 84,444,287 (GRCm39) |
D556G |
probably damaging |
Het |
| Cyp4a14 |
C |
A |
4: 115,353,129 (GRCm39) |
G61V |
probably damaging |
Het |
| Cyp4f17 |
T |
A |
17: 32,739,550 (GRCm39) |
F157L |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,548,849 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
A |
C |
1: 181,633,577 (GRCm39) |
H4P |
|
Het |
| Dnah7a |
T |
C |
1: 53,657,142 (GRCm39) |
D878G |
probably benign |
Het |
| Epb41l1 |
C |
T |
2: 156,363,684 (GRCm39) |
T731I |
probably benign |
Het |
| Epg5 |
G |
C |
18: 77,991,946 (GRCm39) |
E214D |
probably benign |
Het |
| Fam171b |
A |
G |
2: 83,690,864 (GRCm39) |
T276A |
probably benign |
Het |
| Fat4 |
G |
A |
3: 39,035,702 (GRCm39) |
R3118H |
probably benign |
Het |
| Fbrs |
C |
T |
7: 127,082,329 (GRCm39) |
R327W |
probably damaging |
Het |
| Fmo3 |
A |
G |
1: 162,794,509 (GRCm39) |
V187A |
possibly damaging |
Het |
| Gins1 |
T |
C |
2: 150,772,807 (GRCm39) |
V190A |
probably benign |
Het |
| Gm17067 |
T |
C |
7: 42,358,155 (GRCm39) |
S116G |
probably damaging |
Het |
| Gm5478 |
A |
G |
15: 101,553,862 (GRCm39) |
V250A |
probably benign |
Het |
| Gpr85 |
T |
C |
6: 13,836,848 (GRCm39) |
T19A |
probably benign |
Het |
| Hepacam2 |
T |
C |
6: 3,483,358 (GRCm39) |
N217S |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,845,377 (GRCm39) |
Y889H |
probably benign |
Het |
| Itpr2 |
T |
G |
6: 146,135,464 (GRCm39) |
R1822S |
possibly damaging |
Het |
| Kcnk7 |
C |
T |
19: 5,754,407 (GRCm39) |
|
probably benign |
Het |
| Klk1 |
T |
C |
7: 43,874,933 (GRCm39) |
S11P |
probably damaging |
Het |
| Klra7 |
C |
T |
6: 130,201,109 (GRCm39) |
G216R |
probably damaging |
Het |
| Krt34 |
T |
C |
11: 99,930,901 (GRCm39) |
D167G |
probably damaging |
Het |
| Larp1b |
A |
C |
3: 40,930,995 (GRCm39) |
E291D |
probably benign |
Het |
| Lats1 |
T |
A |
10: 7,586,688 (GRCm39) |
L950* |
probably null |
Het |
| Lrrc2 |
A |
C |
9: 110,799,218 (GRCm39) |
D255A |
probably damaging |
Het |
| Mocos |
A |
G |
18: 24,799,314 (GRCm39) |
K183E |
probably benign |
Het |
| Mpl |
C |
A |
4: 118,301,213 (GRCm39) |
|
probably null |
Het |
| Mroh9 |
T |
A |
1: 162,883,250 (GRCm39) |
T410S |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,375,024 (GRCm39) |
E430G |
probably damaging |
Het |
| Nsun6 |
T |
C |
2: 15,034,863 (GRCm39) |
T252A |
probably benign |
Het |
| Ntrk1 |
C |
A |
3: 87,698,976 (GRCm39) |
|
probably null |
Het |
| Nts |
G |
T |
10: 102,320,921 (GRCm39) |
T56N |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,092,874 (GRCm39) |
D1276G |
probably null |
Het |
| Or4c12b |
G |
T |
2: 89,647,494 (GRCm39) |
V269F |
probably damaging |
Het |
| Or51a10 |
C |
A |
7: 103,698,875 (GRCm39) |
A229S |
possibly damaging |
Het |
| Or5b105 |
T |
C |
19: 13,079,840 (GRCm39) |
Y276C |
probably damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,113,177 (GRCm39) |
S535G |
possibly damaging |
Het |
| Pax9 |
A |
G |
12: 56,743,550 (GRCm39) |
I66V |
possibly damaging |
Het |
| Pja2 |
A |
G |
17: 64,599,843 (GRCm39) |
V547A |
probably damaging |
Het |
| Plekhs1 |
T |
C |
19: 56,465,590 (GRCm39) |
L185S |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,608,540 (GRCm39) |
|
probably null |
Het |
| Ptgdr2 |
A |
T |
19: 10,917,785 (GRCm39) |
T101S |
possibly damaging |
Het |
| Ptprd |
T |
C |
4: 75,984,496 (GRCm39) |
D550G |
probably benign |
Het |
| Ptx3 |
G |
T |
3: 66,128,419 (GRCm39) |
R160L |
probably benign |
Het |
| Rdh16f1 |
A |
C |
10: 127,624,714 (GRCm39) |
E184A |
probably damaging |
Het |
| Rfx3 |
C |
T |
19: 27,771,072 (GRCm39) |
E560K |
possibly damaging |
Het |
| Scgb2b24 |
T |
C |
7: 33,436,779 (GRCm39) |
Q111R |
probably benign |
Het |
| Spart |
A |
G |
3: 55,032,315 (GRCm39) |
D383G |
probably damaging |
Het |
| Stpg3 |
C |
A |
2: 25,103,333 (GRCm39) |
R252L |
probably damaging |
Het |
| Tcp11l2 |
C |
T |
10: 84,449,396 (GRCm39) |
Q454* |
probably null |
Het |
| Trav10d |
A |
G |
14: 53,048,780 (GRCm39) |
Y57C |
probably damaging |
Het |
| Vmn1r170 |
T |
A |
7: 23,306,321 (GRCm39) |
M241K |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,302,332 (GRCm39) |
N1000K |
probably damaging |
Het |
| Wdsub1 |
T |
C |
2: 59,692,045 (GRCm39) |
E329G |
probably benign |
Het |
| Wnk4 |
C |
A |
11: 101,166,147 (GRCm39) |
C891* |
probably null |
Het |
| Zdhhc16 |
G |
T |
19: 41,928,093 (GRCm39) |
C204F |
probably damaging |
Het |
| Zfp868 |
T |
C |
8: 70,064,559 (GRCm39) |
I259V |
possibly damaging |
Het |
| Zranb3 |
G |
T |
1: 127,920,647 (GRCm39) |
Q426K |
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 |
|
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 |
|
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'- CAAGATTAGCCTGGGGTACG -3'
(R):5'- AGGAGTCACATTTGAGCATCTCC -3'
Sequencing Primer
(F):5'- CAAGATTAGCCTGGGGTACGTTTTC -3'
(R):5'- TGAGCATCTCCTCTGTAATTAGAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation