Incidental Mutation 'R1122:Lrrc15'
| ID |
95774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc15
|
| Ensembl Gene |
ENSMUSG00000052316 |
| Gene Name |
leucine rich repeat containing 15 |
| Synonyms |
5430427N11Rik |
| MMRRC Submission |
039195-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1122 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
30088120-30102072 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30092719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 207
(N207D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064606]
|
| AlphaFold |
Q80X72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064606
AA Change: N207D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066777
Gene: ENSMUSG00000052316
AA Change: N207D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LRRNT
|
24 |
57 |
2.98e0 |
SMART |
|
LRR
|
76 |
99 |
6.97e1 |
SMART |
|
LRR_TYP
|
100 |
123 |
1.98e-4 |
SMART |
|
LRR
|
124 |
147 |
4.08e0 |
SMART |
|
LRR_TYP
|
148 |
171 |
2.4e-3 |
SMART |
|
LRR_TYP
|
172 |
195 |
1.82e-3 |
SMART |
|
LRR_TYP
|
196 |
219 |
1.18e-2 |
SMART |
|
LRR_TYP
|
220 |
243 |
3.16e-3 |
SMART |
|
LRR_TYP
|
245 |
267 |
3.39e-3 |
SMART |
|
LRR_TYP
|
268 |
291 |
8.81e-2 |
SMART |
|
LRR_TYP
|
292 |
315 |
9.5e-7 |
SMART |
|
LRR_TYP
|
316 |
339 |
6.52e-5 |
SMART |
|
LRR_TYP
|
340 |
363 |
7.78e-3 |
SMART |
|
LRR_TYP
|
364 |
387 |
1.03e-2 |
SMART |
|
LRR
|
388 |
411 |
8.48e0 |
SMART |
|
LRRCT
|
423 |
474 |
1.11e-3 |
SMART |
|
low complexity region
|
485 |
512 |
N/A |
INTRINSIC |
|
transmembrane domain
|
537 |
559 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
G |
A |
11: 69,902,203 (GRCm39) |
L469F |
probably damaging |
Het |
| Adgrb1 |
C |
A |
15: 74,419,534 (GRCm39) |
R792S |
probably damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Arhgap15 |
A |
T |
2: 44,032,307 (GRCm39) |
H297L |
probably benign |
Het |
| Chtf18 |
T |
C |
17: 25,943,597 (GRCm39) |
E333G |
probably damaging |
Het |
| Cyb5a |
A |
G |
18: 84,895,964 (GRCm39) |
T77A |
possibly damaging |
Het |
| Entrep1 |
T |
C |
19: 23,952,756 (GRCm39) |
E518G |
probably damaging |
Het |
| Exosc10 |
T |
C |
4: 148,650,821 (GRCm39) |
W456R |
possibly damaging |
Het |
| Fhip2a |
A |
T |
19: 57,370,733 (GRCm39) |
T551S |
probably benign |
Het |
| Gad2 |
A |
T |
2: 22,513,463 (GRCm39) |
Q31L |
possibly damaging |
Het |
| Gm9637 |
T |
A |
14: 19,401,879 (GRCm38) |
|
noncoding transcript |
Het |
| Itgav |
A |
G |
2: 83,622,283 (GRCm39) |
T622A |
probably benign |
Het |
| Kifc5b |
T |
A |
17: 27,143,035 (GRCm39) |
V269E |
probably benign |
Het |
| Map2k5 |
A |
G |
9: 63,170,445 (GRCm39) |
V291A |
probably damaging |
Het |
| Mrc1 |
G |
A |
2: 14,266,147 (GRCm39) |
|
probably null |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Or12d12 |
T |
A |
17: 37,611,019 (GRCm39) |
Q98L |
probably damaging |
Het |
| Or1o2 |
T |
A |
17: 37,542,934 (GRCm39) |
D109V |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,457,981 (GRCm39) |
V294A |
probably benign |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Rnf220 |
C |
T |
4: 117,135,277 (GRCm39) |
G171S |
probably benign |
Het |
| Slc6a4 |
T |
C |
11: 76,918,012 (GRCm39) |
S585P |
possibly damaging |
Het |
| Slc7a8 |
T |
C |
14: 54,961,564 (GRCm39) |
E528G |
probably benign |
Het |
| Slco4c1 |
A |
G |
1: 96,756,561 (GRCm39) |
I587T |
possibly damaging |
Het |
| Syt4 |
T |
A |
18: 31,573,255 (GRCm39) |
H420L |
probably damaging |
Het |
| Tec |
T |
C |
5: 72,936,792 (GRCm39) |
K236E |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,545,676 (GRCm39) |
V32549A |
probably damaging |
Het |
| Uqcc4 |
T |
C |
17: 25,403,846 (GRCm39) |
I62T |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,030,832 (GRCm39) |
H2299R |
possibly damaging |
Het |
| Zfp729b |
A |
G |
13: 67,743,403 (GRCm39) |
V64A |
possibly damaging |
Het |
|
| Other mutations in Lrrc15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00495:Lrrc15
|
APN |
16 |
30,092,848 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01720:Lrrc15
|
APN |
16 |
30,092,138 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0138:Lrrc15
|
UTSW |
16 |
30,092,267 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0317:Lrrc15
|
UTSW |
16 |
30,092,561 (GRCm39) |
missense |
probably benign |
|
|
R0497:Lrrc15
|
UTSW |
16 |
30,091,710 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0528:Lrrc15
|
UTSW |
16 |
30,092,566 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1950:Lrrc15
|
UTSW |
16 |
30,092,649 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2898:Lrrc15
|
UTSW |
16 |
30,092,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4272:Lrrc15
|
UTSW |
16 |
30,092,673 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4839:Lrrc15
|
UTSW |
16 |
30,093,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5091:Lrrc15
|
UTSW |
16 |
30,092,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5369:Lrrc15
|
UTSW |
16 |
30,091,722 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6076:Lrrc15
|
UTSW |
16 |
30,091,806 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6133:Lrrc15
|
UTSW |
16 |
30,093,054 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7017:Lrrc15
|
UTSW |
16 |
30,091,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9217:Lrrc15
|
UTSW |
16 |
30,092,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9507:Lrrc15
|
UTSW |
16 |
30,092,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9533:Lrrc15
|
UTSW |
16 |
30,092,637 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9562:Lrrc15
|
UTSW |
16 |
30,093,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Lrrc15
|
UTSW |
16 |
30,093,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9616:Lrrc15
|
UTSW |
16 |
30,092,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9641:Lrrc15
|
UTSW |
16 |
30,093,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9755:Lrrc15
|
UTSW |
16 |
30,093,147 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1176:Lrrc15
|
UTSW |
16 |
30,093,070 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGAGATTCGTCAGCCCATTGAAG -3'
(R):5'- TGGCAACAATCTGGAATACATCCCC -3'
Sequencing Primer
(F):5'- TGTTGTAGAGCCAAAGCTCC -3'
(R):5'- ATCCCCGAAGGAGTCTTTGAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation