Incidental Mutation 'R5783:Lrrc9'
| ID |
447878 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc9
|
| Ensembl Gene |
ENSMUSG00000021090 |
| Gene Name |
leucine rich repeat containing 9 |
| Synonyms |
4921529O18Rik, 4930432K16Rik |
| MMRRC Submission |
043380-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R5783 (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 G
at 72502827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 266
(E266G)
|
| 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: E266G
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090
AA Change: E266G
| 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: E266G
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: E266G
| 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 |
possibly damaging
Transcript: ENSMUST00000221360
AA Change: E266G
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
A |
11: 23,468,787 (GRCm39) |
Y48F |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,051,022 (GRCm39) |
D1082G |
probably damaging |
Het |
| Cald1 |
G |
A |
6: 34,730,468 (GRCm39) |
A236T |
possibly damaging |
Het |
| Ccdc88b |
A |
C |
19: 6,831,284 (GRCm39) |
C553G |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,967,341 (GRCm39) |
D2161G |
probably benign |
Het |
| Cep78 |
G |
T |
19: 15,933,723 (GRCm39) |
N618K |
probably benign |
Het |
| Chka |
A |
G |
19: 3,914,661 (GRCm39) |
N118D |
probably damaging |
Het |
| Dennd5a |
A |
C |
7: 109,493,843 (GRCm39) |
I1263S |
probably damaging |
Het |
| Dnaaf9 |
A |
C |
2: 130,581,003 (GRCm39) |
F582L |
possibly damaging |
Het |
| Dnm3 |
T |
C |
1: 162,183,040 (GRCm39) |
T92A |
possibly damaging |
Het |
| Dpp9 |
T |
C |
17: 56,518,655 (GRCm39) |
K50E |
probably damaging |
Het |
| Fen1 |
G |
T |
19: 10,178,194 (GRCm39) |
Y83* |
probably null |
Het |
| Gm1110 |
A |
G |
9: 26,793,632 (GRCm39) |
I532T |
probably benign |
Het |
| H2bc21 |
T |
C |
3: 96,128,615 (GRCm39) |
V45A |
possibly damaging |
Het |
| Impdh1 |
A |
T |
6: 29,206,342 (GRCm39) |
F140Y |
possibly damaging |
Het |
| Kcnc4 |
T |
C |
3: 107,355,188 (GRCm39) |
D420G |
possibly damaging |
Het |
| Kctd19 |
A |
G |
8: 106,113,612 (GRCm39) |
V664A |
probably benign |
Het |
| Krt80 |
C |
T |
15: 101,257,360 (GRCm39) |
|
probably null |
Het |
| Lars2 |
T |
G |
9: 123,290,661 (GRCm39) |
M876R |
probably benign |
Het |
| Mesd |
T |
A |
7: 83,544,883 (GRCm39) |
V120E |
probably damaging |
Het |
| Mogs |
C |
T |
6: 83,095,652 (GRCm39) |
T823I |
probably damaging |
Het |
| Mrgprh |
C |
A |
17: 13,096,333 (GRCm39) |
T191N |
probably benign |
Het |
| Mtss1 |
C |
T |
15: 58,815,373 (GRCm39) |
S729N |
probably benign |
Het |
| Muc5b |
G |
T |
7: 141,412,165 (GRCm39) |
E1704* |
probably null |
Het |
| Or2ag13 |
C |
A |
7: 106,472,541 (GRCm39) |
V304F |
probably damaging |
Het |
| Or51m1 |
A |
T |
7: 103,578,149 (GRCm39) |
I40F |
probably damaging |
Het |
| Or8k30 |
T |
C |
2: 86,338,982 (GRCm39) |
Y60H |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,103,644 (GRCm39) |
L216* |
probably null |
Het |
| Pcdha5 |
T |
C |
18: 37,095,534 (GRCm39) |
V681A |
probably benign |
Het |
| Pgap3 |
A |
C |
11: 98,281,290 (GRCm39) |
V190G |
probably benign |
Het |
| Ppp2r5a |
A |
T |
1: 191,086,837 (GRCm39) |
Y373N |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,535,665 (GRCm39) |
L1675P |
probably damaging |
Het |
| Rapgef2 |
T |
G |
3: 78,995,300 (GRCm39) |
I635L |
probably benign |
Het |
| Rusc1 |
T |
C |
3: 88,995,452 (GRCm39) |
D193G |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,483,343 (GRCm39) |
V4140I |
probably benign |
Het |
| Scamp5 |
A |
G |
9: 57,353,353 (GRCm39) |
|
probably null |
Het |
| Shoc1 |
A |
T |
4: 59,076,239 (GRCm39) |
L568* |
probably null |
Het |
| Slc41a3 |
T |
C |
6: 90,596,524 (GRCm39) |
I31T |
probably benign |
Het |
| Smad9 |
T |
C |
3: 54,701,863 (GRCm39) |
V368A |
probably benign |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| St8sia1 |
T |
C |
6: 142,909,340 (GRCm39) |
N52S |
possibly damaging |
Het |
| Svop |
T |
G |
5: 114,202,996 (GRCm39) |
D72A |
possibly damaging |
Het |
| Sybu |
T |
C |
15: 44,609,810 (GRCm39) |
I153V |
probably damaging |
Het |
| Tmem266 |
G |
T |
9: 55,305,087 (GRCm39) |
S32I |
probably damaging |
Het |
| Trpm4 |
G |
T |
7: 44,959,813 (GRCm39) |
R694S |
probably benign |
Het |
| Uqcrfs1 |
A |
G |
13: 30,729,187 (GRCm39) |
L15P |
probably damaging |
Het |
| Vrtn |
T |
A |
12: 84,697,251 (GRCm39) |
L667Q |
probably benign |
Het |
| Zc3h14 |
T |
A |
12: 98,723,434 (GRCm39) |
S241R |
probably damaging |
Het |
| Zfp318 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAG |
TGAAGAAGAAGAAGAAGAAGAAG |
17: 46,723,440 (GRCm39) |
|
probably benign |
Het |
| Zfp617 |
C |
A |
8: 72,686,308 (GRCm39) |
H213N |
probably damaging |
Het |
| Zfp638 |
G |
A |
6: 83,921,829 (GRCm39) |
G652D |
possibly damaging |
Het |
| Zmiz2 |
T |
C |
11: 6,355,081 (GRCm39) |
L916P |
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 |
|
R1743:Lrrc9
|
UTSW |
12 |
72,502,891 (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 |
|
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'- TTTCTGATGGAGCTAGCAAACTTCC -3'
(R):5'- CGGGCAGTGGAGTTAAGGATTTAC -3'
Sequencing Primer
(F):5'- GCTGTGATCCAAAATTCTTAGGGAG -3'
(R):5'- ACTAGTTTGTCGGATAATTTTCCTAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation