Incidental Mutation 'R1743:Lrrc9'
ID |
200531 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc9
|
Ensembl Gene |
ENSMUSG00000021090 |
Gene Name |
leucine rich repeat containing 9 |
Synonyms |
4921529O18Rik, 4930432K16Rik |
MMRRC Submission |
039775-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R1743 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
72481391-72561269 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 72502891 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 287
(L287F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152125
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161284]
[ENSMUST00000162159]
[ENSMUST00000221360]
|
AlphaFold |
Q8CDN9 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160394
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161195
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161284
AA Change: L287F
PolyPhen 2
Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000124602 Gene: ENSMUSG00000021090 AA Change: L287F
Domain | Start | End | E-Value | Type |
Pfam:LRR_4
|
77 |
118 |
2.8e-11 |
PFAM |
LRR
|
119 |
140 |
8.49e1 |
SMART |
LRR
|
141 |
164 |
2.27e1 |
SMART |
LRR
|
165 |
187 |
2.09e2 |
SMART |
LRRcap
|
210 |
228 |
6.12e1 |
SMART |
low complexity region
|
373 |
384 |
N/A |
INTRINSIC |
low complexity region
|
424 |
436 |
N/A |
INTRINSIC |
LRR
|
706 |
727 |
1.41e2 |
SMART |
LRR
|
728 |
749 |
6.78e1 |
SMART |
LRR
|
750 |
773 |
7.17e1 |
SMART |
LRRcap
|
793 |
811 |
2.26e2 |
SMART |
LRR
|
943 |
966 |
2.67e-1 |
SMART |
LRR
|
967 |
992 |
1.22e1 |
SMART |
LRRcap
|
1031 |
1049 |
4.37e0 |
SMART |
low complexity region
|
1109 |
1120 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161957
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162159
AA Change: L287F
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124394 Gene: ENSMUSG00000021090 AA Change: L287F
Domain | Start | End | E-Value | Type |
LRR
|
53 |
74 |
5.39e2 |
SMART |
LRR
|
75 |
96 |
1.14e2 |
SMART |
LRR
|
97 |
118 |
7.9e-4 |
SMART |
LRR
|
119 |
140 |
2.75e-3 |
SMART |
LRR
|
141 |
164 |
2.27e1 |
SMART |
LRR
|
164 |
185 |
1.87e1 |
SMART |
LRRcap
|
210 |
228 |
6.12e1 |
SMART |
low complexity region
|
373 |
384 |
N/A |
INTRINSIC |
low complexity region
|
424 |
436 |
N/A |
INTRINSIC |
LRR
|
705 |
726 |
1.41e2 |
SMART |
LRR
|
727 |
748 |
6.78e1 |
SMART |
LRR
|
749 |
771 |
1.37e1 |
SMART |
LRRcap
|
792 |
810 |
2.26e2 |
SMART |
LRR
|
898 |
919 |
2.62e1 |
SMART |
LRR
|
920 |
941 |
5.17e1 |
SMART |
LRR
|
942 |
965 |
2.67e-1 |
SMART |
LRR
|
966 |
991 |
1.22e1 |
SMART |
LRR
|
1013 |
1032 |
4.42e2 |
SMART |
LRRcap
|
1030 |
1048 |
4.37e0 |
SMART |
low complexity region
|
1108 |
1119 |
N/A |
INTRINSIC |
LRR
|
1128 |
1150 |
2.4e1 |
SMART |
LRR
|
1191 |
1209 |
5.7e2 |
SMART |
LRR
|
1215 |
1236 |
1.03e-2 |
SMART |
LRR
|
1237 |
1260 |
8.48e0 |
SMART |
LRR
|
1283 |
1304 |
2.67e-1 |
SMART |
Blast:LRR
|
1308 |
1333 |
4e-6 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162179
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000221360
AA Change: L287F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff4 |
T |
A |
11: 53,259,522 (GRCm39) |
M11K |
possibly damaging |
Het |
Ank2 |
T |
C |
3: 126,722,324 (GRCm39) |
D88G |
probably damaging |
Het |
Arhgap32 |
A |
G |
9: 32,170,727 (GRCm39) |
E1169G |
probably benign |
Het |
Atp7b |
A |
T |
8: 22,496,403 (GRCm39) |
V865E |
probably damaging |
Het |
Bcl2l13 |
T |
A |
6: 120,825,504 (GRCm39) |
Y13* |
probably null |
Het |
Birc6 |
A |
G |
17: 74,886,751 (GRCm39) |
Q693R |
possibly damaging |
Het |
Bub1 |
T |
C |
2: 127,655,770 (GRCm39) |
D520G |
probably damaging |
Het |
Ccdc15 |
A |
T |
9: 37,188,773 (GRCm39) |
Y770* |
probably null |
Het |
Cenpf |
T |
C |
1: 189,386,460 (GRCm39) |
E1940G |
probably benign |
Het |
Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,233,825 (GRCm39) |
V421A |
probably benign |
Het |
Cnnm1 |
A |
T |
19: 43,460,352 (GRCm39) |
Y698F |
possibly damaging |
Het |
Cnst |
C |
T |
1: 179,437,957 (GRCm39) |
T507I |
probably benign |
Het |
Coq8a |
T |
C |
1: 180,009,794 (GRCm39) |
M4V |
probably benign |
Het |
Csmd3 |
A |
G |
15: 48,485,485 (GRCm39) |
L140P |
probably damaging |
Het |
Cul2 |
A |
T |
18: 3,426,851 (GRCm39) |
I431F |
probably damaging |
Het |
Dnah8 |
G |
T |
17: 30,988,625 (GRCm39) |
E3198D |
probably benign |
Het |
Dnai3 |
C |
A |
3: 145,803,017 (GRCm39) |
R58L |
possibly damaging |
Het |
Epn2 |
T |
A |
11: 61,437,237 (GRCm39) |
I112F |
possibly damaging |
Het |
Ext2 |
T |
C |
2: 93,560,570 (GRCm39) |
E532G |
probably damaging |
Het |
Fndc3a |
A |
T |
14: 72,889,521 (GRCm39) |
V37E |
probably damaging |
Het |
Gabbr2 |
A |
G |
4: 46,677,603 (GRCm39) |
F759S |
possibly damaging |
Het |
Ghr |
G |
A |
15: 3,349,723 (GRCm39) |
P485L |
probably benign |
Het |
Glipr1l2 |
G |
T |
10: 111,928,470 (GRCm39) |
V122L |
probably benign |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
Gm6871 |
G |
T |
7: 41,195,876 (GRCm39) |
T287K |
probably damaging |
Het |
Gm7275 |
A |
G |
16: 47,894,120 (GRCm39) |
|
noncoding transcript |
Het |
Hephl1 |
C |
T |
9: 15,001,364 (GRCm39) |
V254I |
probably damaging |
Het |
Hnf4a |
C |
A |
2: 163,408,259 (GRCm39) |
Q362K |
possibly damaging |
Het |
Kcne3 |
C |
T |
7: 99,833,631 (GRCm39) |
R83C |
probably damaging |
Het |
Klb |
C |
A |
5: 65,533,204 (GRCm39) |
N504K |
probably damaging |
Het |
Loxl2 |
T |
A |
14: 69,929,851 (GRCm39) |
I743N |
possibly damaging |
Het |
Mcm3ap |
C |
T |
10: 76,320,508 (GRCm39) |
P822L |
possibly damaging |
Het |
Nacc2 |
T |
C |
2: 25,950,155 (GRCm39) |
N527S |
probably benign |
Het |
Ncam1 |
G |
T |
9: 49,468,445 (GRCm39) |
P338H |
probably damaging |
Het |
Nfkbiz |
G |
T |
16: 55,636,757 (GRCm39) |
Q515K |
possibly damaging |
Het |
Nipsnap2 |
T |
C |
5: 129,834,149 (GRCm39) |
L263P |
probably damaging |
Het |
Nlrp1a |
A |
T |
11: 71,015,032 (GRCm39) |
S73T |
probably benign |
Het |
Nomo1 |
G |
A |
7: 45,719,461 (GRCm39) |
|
probably null |
Het |
Nos3 |
G |
A |
5: 24,582,310 (GRCm39) |
G594D |
probably benign |
Het |
Oprm1 |
A |
G |
10: 6,780,105 (GRCm39) |
I256V |
probably damaging |
Het |
Or10ak16 |
A |
G |
4: 118,750,723 (GRCm39) |
T148A |
probably benign |
Het |
Or10n1 |
A |
T |
9: 39,524,916 (GRCm39) |
T18S |
possibly damaging |
Het |
Or2b2 |
A |
G |
13: 21,887,620 (GRCm39) |
I150V |
probably benign |
Het |
Oxct2a |
A |
T |
4: 123,217,309 (GRCm39) |
L24Q |
possibly damaging |
Het |
Pcdhb14 |
T |
G |
18: 37,581,231 (GRCm39) |
S112R |
probably benign |
Het |
Polr2a |
A |
G |
11: 69,630,329 (GRCm39) |
I1246T |
probably damaging |
Het |
Ppil4 |
A |
T |
10: 7,683,145 (GRCm39) |
K327N |
probably damaging |
Het |
Pramel30 |
T |
C |
4: 144,059,575 (GRCm39) |
S429P |
probably benign |
Het |
Pstpip1 |
T |
C |
9: 56,033,214 (GRCm39) |
Y249H |
probably damaging |
Het |
Qrsl1 |
A |
T |
10: 43,757,511 (GRCm39) |
V369E |
probably damaging |
Het |
Ranbp10 |
G |
T |
8: 106,506,610 (GRCm39) |
P237T |
probably damaging |
Het |
Rapgef6 |
A |
G |
11: 54,567,110 (GRCm39) |
N1097S |
probably damaging |
Het |
Repin1 |
T |
A |
6: 48,574,684 (GRCm39) |
S538T |
probably damaging |
Het |
Rims2 |
A |
T |
15: 39,543,046 (GRCm39) |
M1151L |
probably benign |
Het |
Rin3 |
T |
A |
12: 102,356,355 (GRCm39) |
D965E |
possibly damaging |
Het |
Sdc2 |
A |
G |
15: 33,028,224 (GRCm39) |
D114G |
probably benign |
Het |
Slc25a30 |
C |
A |
14: 76,012,523 (GRCm39) |
A42S |
probably benign |
Het |
Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
Ssh2 |
T |
A |
11: 77,328,582 (GRCm39) |
F383I |
probably damaging |
Het |
St8sia1 |
A |
T |
6: 142,774,742 (GRCm39) |
V279E |
probably damaging |
Het |
Tacc2 |
C |
A |
7: 130,228,328 (GRCm39) |
S1690* |
probably null |
Het |
Taf1b |
A |
G |
12: 24,597,177 (GRCm39) |
D372G |
possibly damaging |
Het |
Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
Tmem165 |
G |
T |
5: 76,355,673 (GRCm39) |
G272C |
probably damaging |
Het |
Tsc22d2 |
TCAGTTAACACCTATGAACAGT |
TCAGT |
3: 58,324,960 (GRCm39) |
|
probably null |
Het |
Tssk4 |
C |
A |
14: 55,888,488 (GRCm39) |
A119D |
probably damaging |
Het |
Usp9y |
A |
G |
Y: 1,316,727 (GRCm39) |
Y1941H |
probably damaging |
Het |
Vmn2r42 |
A |
T |
7: 8,187,264 (GRCm39) |
M786K |
probably benign |
Het |
Wdfy3 |
G |
T |
5: 101,991,931 (GRCm39) |
T3470K |
probably benign |
Het |
Zc3h14 |
T |
C |
12: 98,745,448 (GRCm39) |
V479A |
probably benign |
Het |
Zfp821 |
G |
A |
8: 110,450,796 (GRCm39) |
R263Q |
probably damaging |
Het |
|
Other mutations in Lrrc9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00092:Lrrc9
|
APN |
12 |
72,533,017 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL00843:Lrrc9
|
APN |
12 |
72,510,191 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL01923:Lrrc9
|
APN |
12 |
72,557,186 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02027:Lrrc9
|
APN |
12 |
72,517,108 (GRCm39) |
splice site |
probably benign |
|
IGL02271:Lrrc9
|
APN |
12 |
72,557,155 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02398:Lrrc9
|
APN |
12 |
72,513,677 (GRCm39) |
missense |
probably benign |
|
IGL02795:Lrrc9
|
APN |
12 |
72,525,542 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02931:Lrrc9
|
APN |
12 |
72,500,923 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03257:Lrrc9
|
APN |
12 |
72,496,542 (GRCm39) |
missense |
probably benign |
|
BB006:Lrrc9
|
UTSW |
12 |
72,533,071 (GRCm39) |
missense |
possibly damaging |
0.92 |
BB016:Lrrc9
|
UTSW |
12 |
72,533,071 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02799:Lrrc9
|
UTSW |
12 |
72,553,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R0172:Lrrc9
|
UTSW |
12 |
72,510,260 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0315:Lrrc9
|
UTSW |
12 |
72,502,802 (GRCm39) |
missense |
probably damaging |
0.96 |
R0492:Lrrc9
|
UTSW |
12 |
72,525,537 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0617:Lrrc9
|
UTSW |
12 |
72,529,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R0639:Lrrc9
|
UTSW |
12 |
72,533,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R0987:Lrrc9
|
UTSW |
12 |
72,557,156 (GRCm39) |
missense |
probably benign |
0.00 |
R1325:Lrrc9
|
UTSW |
12 |
72,543,878 (GRCm39) |
missense |
probably damaging |
0.99 |
R1465:Lrrc9
|
UTSW |
12 |
72,547,533 (GRCm39) |
missense |
probably benign |
0.05 |
R1465:Lrrc9
|
UTSW |
12 |
72,547,533 (GRCm39) |
missense |
probably benign |
0.05 |
R1479:Lrrc9
|
UTSW |
12 |
72,507,599 (GRCm39) |
nonsense |
probably null |
|
R1564:Lrrc9
|
UTSW |
12 |
72,533,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R1626:Lrrc9
|
UTSW |
12 |
72,542,435 (GRCm39) |
splice site |
probably null |
|
R1632:Lrrc9
|
UTSW |
12 |
72,506,794 (GRCm39) |
splice site |
probably null |
|
R1715:Lrrc9
|
UTSW |
12 |
72,524,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R1779:Lrrc9
|
UTSW |
12 |
72,502,772 (GRCm39) |
nonsense |
probably null |
|
R1866:Lrrc9
|
UTSW |
12 |
72,543,912 (GRCm39) |
missense |
probably damaging |
0.97 |
R1878:Lrrc9
|
UTSW |
12 |
72,522,938 (GRCm39) |
critical splice donor site |
probably null |
|
R1990:Lrrc9
|
UTSW |
12 |
72,544,635 (GRCm39) |
missense |
probably damaging |
0.99 |
R2361:Lrrc9
|
UTSW |
12 |
72,510,244 (GRCm39) |
missense |
possibly damaging |
0.52 |
R3752:Lrrc9
|
UTSW |
12 |
72,507,580 (GRCm39) |
nonsense |
probably null |
|
R3833:Lrrc9
|
UTSW |
12 |
72,529,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R4134:Lrrc9
|
UTSW |
12 |
72,513,740 (GRCm39) |
missense |
probably benign |
0.00 |
R4651:Lrrc9
|
UTSW |
12 |
72,524,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R4652:Lrrc9
|
UTSW |
12 |
72,524,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R4659:Lrrc9
|
UTSW |
12 |
72,517,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R4831:Lrrc9
|
UTSW |
12 |
72,546,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R4857:Lrrc9
|
UTSW |
12 |
72,546,466 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5017:Lrrc9
|
UTSW |
12 |
72,553,099 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5163:Lrrc9
|
UTSW |
12 |
72,496,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R5279:Lrrc9
|
UTSW |
12 |
72,542,368 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5434:Lrrc9
|
UTSW |
12 |
72,500,862 (GRCm39) |
missense |
probably damaging |
0.98 |
R5783:Lrrc9
|
UTSW |
12 |
72,502,827 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6021:Lrrc9
|
UTSW |
12 |
72,516,005 (GRCm39) |
missense |
probably damaging |
0.97 |
R6214:Lrrc9
|
UTSW |
12 |
72,506,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R6255:Lrrc9
|
UTSW |
12 |
72,533,797 (GRCm39) |
missense |
probably benign |
0.33 |
R6538:Lrrc9
|
UTSW |
12 |
72,547,703 (GRCm39) |
missense |
probably benign |
0.08 |
R6563:Lrrc9
|
UTSW |
12 |
72,533,169 (GRCm39) |
splice site |
probably null |
|
R6672:Lrrc9
|
UTSW |
12 |
72,520,710 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6919:Lrrc9
|
UTSW |
12 |
72,553,167 (GRCm39) |
missense |
probably benign |
0.01 |
R6929:Lrrc9
|
UTSW |
12 |
72,497,546 (GRCm39) |
missense |
probably benign |
0.41 |
R7092:Lrrc9
|
UTSW |
12 |
72,510,238 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7150:Lrrc9
|
UTSW |
12 |
72,513,726 (GRCm39) |
missense |
probably benign |
0.00 |
R7338:Lrrc9
|
UTSW |
12 |
72,510,305 (GRCm39) |
splice site |
probably null |
|
R7398:Lrrc9
|
UTSW |
12 |
72,547,590 (GRCm39) |
missense |
probably damaging |
0.98 |
R7477:Lrrc9
|
UTSW |
12 |
72,550,301 (GRCm39) |
critical splice donor site |
probably null |
|
R7501:Lrrc9
|
UTSW |
12 |
72,496,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R7542:Lrrc9
|
UTSW |
12 |
72,553,094 (GRCm39) |
missense |
probably damaging |
0.96 |
R7816:Lrrc9
|
UTSW |
12 |
72,542,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R7870:Lrrc9
|
UTSW |
12 |
72,532,964 (GRCm39) |
missense |
probably damaging |
0.99 |
R7929:Lrrc9
|
UTSW |
12 |
72,533,071 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8042:Lrrc9
|
UTSW |
12 |
72,507,680 (GRCm39) |
missense |
probably benign |
0.02 |
R8108:Lrrc9
|
UTSW |
12 |
72,500,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R8192:Lrrc9
|
UTSW |
12 |
72,496,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R8244:Lrrc9
|
UTSW |
12 |
72,546,384 (GRCm39) |
missense |
probably benign |
0.22 |
R8333:Lrrc9
|
UTSW |
12 |
72,528,317 (GRCm39) |
missense |
probably benign |
0.38 |
R9288:Lrrc9
|
UTSW |
12 |
72,522,858 (GRCm39) |
missense |
probably benign |
0.01 |
R9324:Lrrc9
|
UTSW |
12 |
72,496,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R9342:Lrrc9
|
UTSW |
12 |
72,506,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R9557:Lrrc9
|
UTSW |
12 |
72,532,981 (GRCm39) |
missense |
probably benign |
0.01 |
R9624:Lrrc9
|
UTSW |
12 |
72,497,586 (GRCm39) |
missense |
probably benign |
0.19 |
R9677:Lrrc9
|
UTSW |
12 |
72,497,539 (GRCm39) |
missense |
probably damaging |
1.00 |
X0025:Lrrc9
|
UTSW |
12 |
72,543,834 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Lrrc9
|
UTSW |
12 |
72,524,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCTTTACCTTCAGTCCACAGCAATGA -3'
(R):5'- TAGTCCGCCTTGTCTGCGACAGAG -3'
Sequencing Primer
(F):5'- AGTCCACAGCAATGAAAAAAATAATG -3'
(R):5'- ctgtctctgcttcccagtc -3'
|
Posted On |
2014-05-23 |