Incidental Mutation 'R8692:Lrrc49'
| ID |
668442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc49
|
| Ensembl Gene |
ENSMUSG00000047766 |
| Gene Name |
leucine rich repeat containing 49 |
| Synonyms |
D430025H09Rik |
| MMRRC Submission |
068546-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R8692 (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 G
at 60594445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 28
(S28P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070606
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065603]
[ENSMUST00000114032]
[ENSMUST00000114034]
[ENSMUST00000132366]
[ENSMUST00000150060]
[ENSMUST00000166168]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065603
AA Change: S28P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070606
Gene: ENSMUSG00000047766
AA Change: S28P
| 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: S22P
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109666
Gene: ENSMUSG00000047766
AA Change: S22P
| 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 |
possibly damaging
Transcript: ENSMUST00000114034
AA Change: S28P
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109668
Gene: ENSMUSG00000047766
AA Change: S28P
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150060
AA Change: S28P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118205
Gene: ENSMUSG00000047766
AA Change: S28P
| 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 damaging
Transcript: ENSMUST00000166168
AA Change: S22P
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128842
Gene: ENSMUSG00000047766
AA Change: S22P
| 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: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
C |
1: 71,327,874 (GRCm39) |
I1402S |
probably damaging |
Het |
| Abca9 |
T |
C |
11: 110,032,409 (GRCm39) |
D736G |
probably benign |
Het |
| Acy1 |
T |
C |
9: 106,310,377 (GRCm39) |
E377G |
probably damaging |
Het |
| Apob |
G |
A |
12: 8,058,270 (GRCm39) |
V2251M |
probably damaging |
Het |
| Arhgap23 |
C |
A |
11: 97,345,322 (GRCm39) |
T657K |
probably damaging |
Het |
| Cabin1 |
T |
C |
10: 75,587,410 (GRCm39) |
K129R |
probably benign |
Het |
| Cdh24 |
A |
T |
14: 54,875,793 (GRCm39) |
F259I |
probably benign |
Het |
| Cops6 |
A |
G |
5: 138,162,083 (GRCm39) |
N307S |
probably benign |
Het |
| Cyp4a31 |
G |
A |
4: 115,423,769 (GRCm39) |
V143M |
probably damaging |
Het |
| Deaf1 |
A |
T |
7: 140,877,444 (GRCm39) |
I561K |
probably benign |
Het |
| Dnah7a |
A |
C |
1: 53,472,175 (GRCm39) |
S3531A |
probably benign |
Het |
| Dnajc14 |
T |
A |
10: 128,642,900 (GRCm39) |
I274N |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,853,077 (GRCm39) |
L48S |
probably damaging |
Het |
| Efna4 |
A |
T |
3: 89,242,549 (GRCm39) |
I115N |
probably damaging |
Het |
| Ermp1 |
T |
A |
19: 29,594,093 (GRCm39) |
L692F |
probably benign |
Het |
| Fcho2 |
GT |
G |
13: 98,882,382 (GRCm39) |
|
probably null |
Het |
| Fcsk |
A |
T |
8: 111,615,722 (GRCm39) |
C536S |
probably benign |
Het |
| Fermt2 |
A |
T |
14: 45,742,099 (GRCm39) |
C82* |
probably null |
Het |
| Gabra6 |
G |
T |
11: 42,210,537 (GRCm39) |
D61E |
probably damaging |
Het |
| Gdpd4 |
T |
A |
7: 97,690,140 (GRCm39) |
S611T |
probably benign |
Het |
| Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
| Gm17430 |
G |
A |
18: 9,726,336 (GRCm39) |
A112V |
probably benign |
Het |
| Gm2381 |
A |
T |
7: 42,472,071 (GRCm39) |
L2Q |
probably damaging |
Het |
| Hif3a |
A |
T |
7: 16,788,701 (GRCm39) |
L90Q |
probably benign |
Het |
| Irf3 |
C |
T |
7: 44,649,889 (GRCm39) |
Q168* |
probably null |
Het |
| Krt82 |
T |
G |
15: 101,456,828 (GRCm39) |
D184A |
possibly damaging |
Het |
| Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
| Mfsd11 |
T |
A |
11: 116,752,443 (GRCm39) |
N197K |
probably benign |
Het |
| Mindy1 |
A |
G |
3: 95,199,587 (GRCm39) |
D243G |
probably damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,450,875 (GRCm39) |
W299R |
probably damaging |
Het |
| Mst1r |
G |
T |
9: 107,792,050 (GRCm39) |
R862L |
possibly damaging |
Het |
| Nasp |
T |
A |
4: 116,469,280 (GRCm39) |
|
probably null |
Het |
| Ncapg2 |
T |
C |
12: 116,414,049 (GRCm39) |
I1073T |
probably damaging |
Het |
| Nek2 |
A |
T |
1: 191,554,745 (GRCm39) |
K152N |
probably benign |
Het |
| Neurod2 |
T |
C |
11: 98,218,960 (GRCm39) |
E68G |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,096 (GRCm39) |
I13F |
probably benign |
Het |
| Or2w3b |
T |
C |
11: 58,623,595 (GRCm39) |
Y132C |
probably damaging |
Het |
| P4ha3 |
T |
A |
7: 99,955,228 (GRCm39) |
I361N |
probably damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,289,805 (GRCm39) |
S875T |
possibly damaging |
Het |
| Pde7b |
G |
T |
10: 20,423,639 (GRCm39) |
P79Q |
probably benign |
Het |
| Phb2 |
G |
A |
6: 124,692,097 (GRCm39) |
A228T |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,225,971 (GRCm39) |
C888* |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,462,374 (GRCm39) |
L2060Q |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,246,052 (GRCm39) |
M496V |
probably benign |
Het |
| Ppfibp1 |
C |
T |
6: 146,892,013 (GRCm39) |
T91I |
probably benign |
Het |
| Ppp1r9b |
T |
C |
11: 94,891,077 (GRCm39) |
L557P |
probably damaging |
Het |
| Ppp2r5c |
G |
T |
12: 110,489,032 (GRCm39) |
V68L |
probably benign |
Het |
| Qrfp |
T |
A |
2: 31,698,797 (GRCm39) |
H45L |
probably benign |
Het |
| Rasgrp1 |
G |
A |
2: 117,115,353 (GRCm39) |
T745I |
probably damaging |
Het |
| Rnf144a |
G |
A |
12: 26,370,972 (GRCm39) |
T163I |
probably benign |
Het |
| Sbsn |
A |
T |
7: 30,451,522 (GRCm39) |
H179L |
unknown |
Het |
| Simc1 |
G |
A |
13: 54,673,193 (GRCm39) |
V514I |
probably benign |
Het |
| Slc35d1 |
A |
G |
4: 103,047,051 (GRCm39) |
M249T |
|
Het |
| Slfn4 |
T |
A |
11: 83,079,709 (GRCm39) |
H466Q |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,808,794 (GRCm39) |
C172S |
probably damaging |
Het |
| Tanc1 |
T |
C |
2: 59,673,989 (GRCm39) |
I1698T |
probably benign |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tiam2 |
A |
C |
17: 3,479,082 (GRCm39) |
D605A |
probably damaging |
Het |
| Tmed4 |
A |
T |
11: 6,223,822 (GRCm39) |
D151E |
probably benign |
Het |
| Trim62 |
A |
T |
4: 128,794,465 (GRCm39) |
I211F |
possibly damaging |
Het |
| Ttpa |
A |
G |
4: 20,008,585 (GRCm39) |
D49G |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,040,103 (GRCm39) |
S1528P |
probably benign |
Het |
| Usp34 |
C |
T |
11: 23,379,325 (GRCm39) |
T1991I |
|
Het |
| Vash1 |
G |
A |
12: 86,735,863 (GRCm39) |
V250M |
possibly damaging |
Het |
| Vmn1r199 |
T |
C |
13: 22,567,809 (GRCm39) |
*368Q |
probably null |
Het |
| Vmn1r74 |
A |
G |
7: 11,580,972 (GRCm39) |
T91A |
probably benign |
Het |
| Vmn1r8 |
T |
C |
6: 57,013,557 (GRCm39) |
F203L |
probably benign |
Het |
| Vmn2r13 |
G |
T |
5: 109,319,514 (GRCm39) |
Q489K |
probably benign |
Het |
| Vmn2r-ps158 |
G |
T |
7: 42,697,108 (GRCm39) |
A722S |
probably benign |
Het |
| Zfp385b |
A |
T |
2: 77,549,971 (GRCm39) |
V38E |
probably damaging |
Het |
| Zfp820 |
A |
G |
17: 22,037,876 (GRCm39) |
I484T |
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 |
|
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 |
|
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'- GGGCTCTTGTAATGGAATGACC -3'
(R):5'- GATTCCTAGACTTCAGAAAATGCTC -3'
Sequencing Primer
(F):5'- TTGATACAAGAGGGATGATTTGGC -3'
(R):5'- ATGCTCATTTACCAGAAAAGGC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation