Incidental Mutation 'R9661:Lrrc49'
| ID |
727585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc49
|
| Ensembl Gene |
ENSMUSG00000047766 |
| Gene Name |
leucine rich repeat containing 49 |
| Synonyms |
D430025H09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R9661 (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 60573582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 300
(I300N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070606
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065603]
[ENSMUST00000114032]
[ENSMUST00000114034]
[ENSMUST00000150060]
[ENSMUST00000166168]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065603
AA Change: I300N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070606
Gene: ENSMUSG00000047766
AA Change: I300N
| 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 damaging
Transcript: ENSMUST00000114032
AA Change: I228N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109666
Gene: ENSMUSG00000047766
AA Change: I228N
| 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 damaging
Transcript: ENSMUST00000114034
AA Change: I234N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109668
Gene: ENSMUSG00000047766
AA Change: I234N
| 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: ENSMUST00000150060
AA Change: I234N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118205
Gene: ENSMUSG00000047766
AA Change: I234N
| 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: I294N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128842
Gene: ENSMUSG00000047766
AA Change: I294N
| 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: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
A |
5: 138,645,451 (GRCm39) |
H445Q |
possibly damaging |
Het |
| Aadacl4 |
C |
A |
4: 144,340,287 (GRCm39) |
P4Q |
probably damaging |
Het |
| Adgre1 |
A |
G |
17: 57,748,368 (GRCm39) |
T523A |
possibly damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,168,531 (GRCm39) |
E838G |
probably benign |
Het |
| Atad5 |
G |
T |
11: 79,980,542 (GRCm39) |
|
probably benign |
Het |
| Card10 |
C |
T |
15: 78,683,318 (GRCm39) |
R275H |
probably damaging |
Het |
| Cdh16 |
A |
G |
8: 105,345,612 (GRCm39) |
V327A |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Cttnbp2 |
T |
A |
6: 18,429,151 (GRCm39) |
Q159L |
|
Het |
| D630003M21Rik |
A |
G |
2: 158,047,673 (GRCm39) |
L732P |
possibly damaging |
Het |
| Dgcr8 |
T |
C |
16: 18,098,579 (GRCm39) |
I308V |
possibly damaging |
Het |
| Dhx9 |
A |
G |
1: 153,340,393 (GRCm39) |
F702L |
probably damaging |
Het |
| Dpy19l1 |
T |
C |
9: 24,386,730 (GRCm39) |
Y188C |
probably damaging |
Het |
| Eea1 |
T |
C |
10: 95,862,742 (GRCm39) |
L888S |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,469,531 (GRCm39) |
|
probably null |
Het |
| Fam186a |
T |
A |
15: 99,842,492 (GRCm39) |
I1251F |
possibly damaging |
Het |
| Fer1l4 |
G |
A |
2: 155,862,336 (GRCm39) |
A1779V |
probably damaging |
Het |
| Fgfrl1 |
C |
T |
5: 108,853,841 (GRCm39) |
T407I |
probably benign |
Het |
| Gkn1 |
T |
C |
6: 87,325,173 (GRCm39) |
K79E |
probably damaging |
Het |
| Gm11564 |
C |
T |
11: 99,706,247 (GRCm39) |
R61H |
unknown |
Het |
| Gpr107 |
T |
C |
2: 31,057,075 (GRCm39) |
F56L |
probably benign |
Het |
| H2-T22 |
T |
C |
17: 36,353,371 (GRCm39) |
|
probably benign |
Het |
| Hs1bp3 |
T |
C |
12: 8,367,940 (GRCm39) |
V63A |
probably damaging |
Het |
| Htr6 |
A |
G |
4: 138,801,963 (GRCm39) |
I37T |
probably damaging |
Het |
| Kifc5b |
T |
C |
17: 27,140,836 (GRCm39) |
|
probably null |
Het |
| Lrfn2 |
T |
C |
17: 49,403,650 (GRCm39) |
I591T |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,808,779 (GRCm39) |
T150A |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,041,857 (GRCm39) |
Q722R |
|
Het |
| Nek9 |
T |
C |
12: 85,361,253 (GRCm39) |
Q484R |
possibly damaging |
Het |
| Nfs1 |
A |
T |
2: 155,970,473 (GRCm39) |
V280E |
probably damaging |
Het |
| Notch3 |
T |
A |
17: 32,373,792 (GRCm39) |
D472V |
probably damaging |
Het |
| Nt5c1b |
T |
C |
12: 10,425,450 (GRCm39) |
V273A |
probably damaging |
Het |
| Nudt12 |
T |
C |
17: 59,316,981 (GRCm39) |
D222G |
probably benign |
Het |
| Nup98 |
G |
A |
7: 101,782,019 (GRCm39) |
Q1204* |
probably null |
Het |
| Nwd2 |
A |
T |
5: 63,957,780 (GRCm39) |
Y370F |
probably damaging |
Het |
| Oas3 |
A |
T |
5: 120,904,230 (GRCm39) |
I548N |
unknown |
Het |
| Ogfr |
A |
T |
2: 180,233,431 (GRCm39) |
N78Y |
probably damaging |
Het |
| Or10ak11 |
A |
T |
4: 118,687,526 (GRCm39) |
L36Q |
probably benign |
Het |
| Prkcq |
A |
T |
2: 11,250,141 (GRCm39) |
K153* |
probably null |
Het |
| Ptpdc1 |
T |
A |
13: 48,739,610 (GRCm39) |
N607I |
probably benign |
Het |
| Rab5c |
G |
T |
11: 100,606,917 (GRCm39) |
Q221K |
probably benign |
Het |
| Ret |
G |
A |
6: 118,150,437 (GRCm39) |
T693I |
probably benign |
Het |
| Rnf20 |
A |
G |
4: 49,654,556 (GRCm39) |
E871G |
probably damaging |
Het |
| Rtl1 |
G |
T |
12: 109,557,346 (GRCm39) |
P1498T |
possibly damaging |
Het |
| Septin9 |
C |
G |
11: 117,245,751 (GRCm39) |
R458G |
possibly damaging |
Het |
| Sh2d2a |
T |
C |
3: 87,756,788 (GRCm39) |
|
probably null |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc16a4 |
T |
A |
3: 107,213,359 (GRCm39) |
D451E |
probably benign |
Het |
| Slc36a3 |
A |
G |
11: 55,015,984 (GRCm39) |
F390S |
probably benign |
Het |
| Slc4a2 |
T |
A |
5: 24,640,005 (GRCm39) |
M576K |
probably damaging |
Het |
| Smim14 |
T |
C |
5: 65,610,533 (GRCm39) |
H88R |
possibly damaging |
Het |
| Spata31e5 |
G |
T |
1: 28,816,536 (GRCm39) |
H499N |
probably benign |
Het |
| Sspo |
C |
T |
6: 48,455,272 (GRCm39) |
Q3045* |
probably null |
Het |
| Supt7l |
C |
A |
5: 31,680,403 (GRCm39) |
R3M |
probably damaging |
Het |
| Tjap1 |
A |
G |
17: 46,571,092 (GRCm39) |
W132R |
probably damaging |
Het |
| Tmem26 |
T |
A |
10: 68,559,838 (GRCm39) |
W37R |
probably damaging |
Het |
| Tut7 |
T |
C |
13: 59,937,332 (GRCm39) |
D1155G |
probably damaging |
Het |
| Vmn1r119 |
C |
T |
7: 20,746,224 (GRCm39) |
V53M |
possibly damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,349,166 (GRCm39) |
N805K |
probably benign |
Het |
| Zfp638 |
T |
C |
6: 83,923,320 (GRCm39) |
V706A |
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 |
|
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 |
|
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'- ACCAACAGCCTTTGTCATCC -3'
(R):5'- CTTCATAAGACTTGCAGCATAAGACAC -3'
Sequencing Primer
(F):5'- CTTTCTAATTCAGTGCTCAGGAC -3'
(R):5'- GCCAGGAATCTCTTGAGT -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation