Incidental Mutation 'R2932:Lrrc1'
| ID |
254977 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc1
|
| Ensembl Gene |
ENSMUSG00000032352 |
| Gene Name |
leucine rich repeat containing 1 |
| Synonyms |
A430093J20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
R2932 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
77338105-77452152 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77364721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 153
(H153L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113421]
[ENSMUST00000183734]
[ENSMUST00000183873]
|
| AlphaFold |
Q80VQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113421
AA Change: H153L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000109048
Gene: ENSMUSG00000032352
AA Change: H153L
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
13 |
35 |
6.57e-1 |
SMART |
|
LRR
|
36 |
59 |
1.12e2 |
SMART |
|
LRR
|
82 |
104 |
2.15e2 |
SMART |
|
LRR
|
105 |
127 |
3.09e1 |
SMART |
|
LRR
|
128 |
150 |
2.14e0 |
SMART |
|
LRR
|
151 |
173 |
3.02e0 |
SMART |
|
LRR
|
174 |
196 |
3.47e0 |
SMART |
|
LRR
|
197 |
219 |
6.58e0 |
SMART |
|
LRR_TYP
|
220 |
243 |
4.72e-2 |
SMART |
|
LRR
|
266 |
289 |
8.97e0 |
SMART |
|
LRR
|
313 |
335 |
1.49e2 |
SMART |
|
coiled coil region
|
440 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183572
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183734
AA Change: H198L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000138912
Gene: ENSMUSG00000032352
AA Change: H198L
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
36 |
57 |
3.18e1 |
SMART |
|
LRR
|
58 |
80 |
6.57e-1 |
SMART |
|
LRR
|
81 |
104 |
1.12e2 |
SMART |
|
LRR
|
127 |
149 |
2.15e2 |
SMART |
|
LRR
|
150 |
172 |
3.09e1 |
SMART |
|
LRR
|
173 |
195 |
2.14e0 |
SMART |
|
LRR
|
196 |
218 |
3.02e0 |
SMART |
|
LRR
|
219 |
241 |
3.47e0 |
SMART |
|
LRR
|
242 |
264 |
6.58e0 |
SMART |
|
LRR_TYP
|
265 |
288 |
4.72e-2 |
SMART |
|
LRR
|
289 |
311 |
8.03e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183873
AA Change: H198L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000139226
Gene: ENSMUSG00000032352
AA Change: H198L
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
36 |
57 |
3.18e1 |
SMART |
|
LRR
|
58 |
80 |
6.57e-1 |
SMART |
|
LRR
|
81 |
104 |
1.12e2 |
SMART |
|
LRR
|
127 |
149 |
2.15e2 |
SMART |
|
LRR
|
150 |
172 |
3.09e1 |
SMART |
|
LRR
|
173 |
195 |
2.14e0 |
SMART |
|
LRR
|
196 |
218 |
3.02e0 |
SMART |
|
LRR
|
219 |
241 |
3.47e0 |
SMART |
|
LRR
|
242 |
264 |
6.58e0 |
SMART |
|
LRR_TYP
|
265 |
288 |
4.72e-2 |
SMART |
|
LRR
|
311 |
334 |
8.97e0 |
SMART |
|
LRR
|
358 |
380 |
1.49e2 |
SMART |
|
coiled coil region
|
485 |
506 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
A |
G |
6: 85,597,544 (GRCm39) |
D1259G |
possibly damaging |
Het |
| Arpp21 |
T |
C |
9: 112,008,173 (GRCm39) |
D106G |
probably damaging |
Het |
| Atp6v1a |
A |
G |
16: 43,909,406 (GRCm39) |
S542P |
probably benign |
Het |
| Ccar1 |
T |
C |
10: 62,612,538 (GRCm39) |
N209S |
probably benign |
Het |
| Ccdc15 |
G |
A |
9: 37,226,954 (GRCm39) |
T327I |
probably benign |
Het |
| Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
| Fat3 |
G |
A |
9: 16,287,240 (GRCm39) |
S761L |
probably damaging |
Het |
| Loricrin |
AGCCGCCGCCGCCGCCGCCGCCGCCGCC |
AGCCGCCGCCGCCGCCGCCGCCGCC |
3: 91,989,185 (GRCm39) |
|
probably benign |
Het |
| Lrrc46 |
T |
C |
11: 96,931,935 (GRCm39) |
|
probably benign |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,194 (GRCm39) |
L177S |
probably benign |
Het |
| Mtmr2 |
A |
T |
9: 13,660,413 (GRCm39) |
|
probably benign |
Het |
| Mtnr1b |
A |
T |
9: 15,785,620 (GRCm39) |
V46E |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,103,418 (GRCm39) |
E207G |
possibly damaging |
Het |
| Nalcn |
A |
G |
14: 123,830,430 (GRCm39) |
S137P |
probably benign |
Het |
| Nipal1 |
A |
G |
5: 72,824,978 (GRCm39) |
I224V |
possibly damaging |
Het |
| Oas1g |
T |
G |
5: 121,017,206 (GRCm39) |
K283Q |
probably benign |
Het |
| Pex12 |
T |
A |
11: 83,187,049 (GRCm39) |
M300L |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,569,148 (GRCm39) |
V1237A |
possibly damaging |
Het |
| Rc3h2 |
C |
A |
2: 37,268,371 (GRCm39) |
V920F |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
|
| Other mutations in Lrrc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02556:Lrrc1
|
APN |
9 |
77,342,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02975:Lrrc1
|
APN |
9 |
77,359,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03063:Lrrc1
|
APN |
9 |
77,406,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
G1Funyon:Lrrc1
|
UTSW |
9 |
77,451,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Lrrc1
|
UTSW |
9 |
77,379,488 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1462:Lrrc1
|
UTSW |
9 |
77,349,547 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1462:Lrrc1
|
UTSW |
9 |
77,349,547 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1615:Lrrc1
|
UTSW |
9 |
77,342,400 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5087:Lrrc1
|
UTSW |
9 |
77,364,740 (GRCm39) |
missense |
probably benign |
|
|
R5907:Lrrc1
|
UTSW |
9 |
77,341,379 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6443:Lrrc1
|
UTSW |
9 |
77,341,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6502:Lrrc1
|
UTSW |
9 |
77,349,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7073:Lrrc1
|
UTSW |
9 |
77,375,847 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7162:Lrrc1
|
UTSW |
9 |
77,339,472 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7177:Lrrc1
|
UTSW |
9 |
77,379,504 (GRCm39) |
nonsense |
probably null |
|
|
R7290:Lrrc1
|
UTSW |
9 |
77,365,121 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7885:Lrrc1
|
UTSW |
9 |
77,349,471 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8301:Lrrc1
|
UTSW |
9 |
77,451,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8375:Lrrc1
|
UTSW |
9 |
77,365,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8945:Lrrc1
|
UTSW |
9 |
77,342,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9188:Lrrc1
|
UTSW |
9 |
77,362,487 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9225:Lrrc1
|
UTSW |
9 |
77,359,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9336:Lrrc1
|
UTSW |
9 |
77,349,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9574:Lrrc1
|
UTSW |
9 |
77,358,708 (GRCm39) |
missense |
probably damaging |
0.97 |
|
RF020:Lrrc1
|
UTSW |
9 |
77,359,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCTGCTTCCAAATGTACTTTC -3'
(R):5'- TCAGGACCAGAGATCTGAGC -3'
Sequencing Primer
(F):5'- GCTGCTTCCAAATGTACTTTCTAAAC -3'
(R):5'- AGAGATCTGAGCTCTGGGGC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation