Incidental Mutation 'R1715:Lrrc9'
| ID |
190956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc9
|
| Ensembl Gene |
ENSMUSG00000021090 |
| Gene Name |
leucine rich repeat containing 9 |
| Synonyms |
4921529O18Rik, 4930432K16Rik |
| MMRRC Submission |
039748-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R1715 (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 72524073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 761
(N761D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161284]
[ENSMUST00000162159]
[ENSMUST00000221360]
|
| AlphaFold |
Q8CDN9 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161195
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161284
AA Change: N761D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090
AA Change: N761D
| 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: ENSMUST00000161547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161957
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162159
AA Change: N760D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: N760D
| 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: ENSMUST00000196758
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221360
AA Change: N761D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
A |
11: 109,982,406 (GRCm39) |
T12M |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,606,034 (GRCm39) |
Y2561* |
probably null |
Het |
| Atp10a |
G |
A |
7: 58,436,253 (GRCm39) |
V348I |
probably damaging |
Het |
| Best2 |
T |
C |
8: 85,737,852 (GRCm39) |
Y181C |
probably benign |
Het |
| Btaf1 |
T |
A |
19: 36,946,521 (GRCm39) |
D442E |
probably damaging |
Het |
| Carmil3 |
T |
G |
14: 55,741,989 (GRCm39) |
V1153G |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,876,003 (GRCm39) |
I993M |
probably damaging |
Het |
| Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
| Cip2a |
C |
T |
16: 48,826,082 (GRCm39) |
T383I |
probably benign |
Het |
| Cmtr2 |
T |
C |
8: 110,949,430 (GRCm39) |
L580P |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,878,830 (GRCm39) |
E109G |
possibly damaging |
Het |
| Cplane1 |
T |
A |
15: 8,256,384 (GRCm39) |
|
probably null |
Het |
| Crispld2 |
G |
T |
8: 120,750,388 (GRCm39) |
W264L |
possibly damaging |
Het |
| Cyp2c38 |
T |
C |
19: 39,393,239 (GRCm39) |
H276R |
probably benign |
Het |
| Dag1 |
A |
T |
9: 108,085,914 (GRCm39) |
V409E |
possibly damaging |
Het |
| Efcab15 |
T |
C |
11: 103,090,650 (GRCm39) |
|
probably null |
Het |
| Emc8 |
T |
C |
8: 121,385,294 (GRCm39) |
N146S |
probably benign |
Het |
| Glt8d1 |
T |
C |
14: 30,733,478 (GRCm39) |
V321A |
possibly damaging |
Het |
| Gm5174 |
C |
T |
10: 86,492,776 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac10 |
G |
T |
15: 89,010,912 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,482,881 (GRCm39) |
D3144G |
possibly damaging |
Het |
| Ifna11 |
C |
T |
4: 88,738,473 (GRCm39) |
S93L |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,297,936 (GRCm39) |
N431S |
probably benign |
Het |
| Irf8 |
A |
T |
8: 121,481,127 (GRCm39) |
E237V |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,075,993 (GRCm39) |
Y1769H |
probably damaging |
Het |
| Mbtps1 |
T |
C |
8: 120,269,469 (GRCm39) |
Y207C |
probably benign |
Het |
| Myo9a |
A |
G |
9: 59,739,583 (GRCm39) |
E765G |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,434,177 (GRCm39) |
D80G |
probably damaging |
Het |
| Or12k8 |
G |
A |
2: 36,975,188 (GRCm39) |
P191S |
probably damaging |
Het |
| Or2ag15 |
G |
C |
7: 106,340,755 (GRCm39) |
P129A |
probably damaging |
Het |
| Or7g18 |
A |
T |
9: 18,787,090 (GRCm39) |
I156F |
probably benign |
Het |
| Pcyt2 |
T |
A |
11: 120,506,677 (GRCm39) |
|
probably null |
Het |
| Plxnd1 |
T |
C |
6: 115,945,642 (GRCm39) |
T944A |
probably benign |
Het |
| Prss3b |
A |
G |
6: 41,009,870 (GRCm39) |
|
probably null |
Het |
| Psd4 |
A |
T |
2: 24,295,344 (GRCm39) |
I833F |
probably damaging |
Het |
| Psmd7 |
A |
G |
8: 108,307,817 (GRCm39) |
I222T |
probably benign |
Het |
| Rap2b |
A |
G |
3: 61,272,611 (GRCm39) |
E45G |
probably damaging |
Het |
| Rbm22 |
T |
C |
18: 60,693,916 (GRCm39) |
S7P |
possibly damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,680,144 (GRCm39) |
N107S |
probably damaging |
Het |
| Ripk2 |
T |
A |
4: 16,155,192 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
T |
A |
14: 52,378,148 (GRCm39) |
C499S |
possibly damaging |
Het |
| Scarf1 |
T |
C |
11: 75,414,870 (GRCm39) |
S515P |
probably damaging |
Het |
| Sgip1 |
T |
C |
4: 102,772,256 (GRCm39) |
V215A |
probably benign |
Het |
| Sis |
T |
C |
3: 72,796,343 (GRCm39) |
I1813V |
possibly damaging |
Het |
| Slc17a3 |
A |
T |
13: 24,040,724 (GRCm39) |
T317S |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,237,821 (GRCm39) |
N340S |
probably benign |
Het |
| Smg6 |
A |
G |
11: 74,820,256 (GRCm39) |
I176V |
probably benign |
Het |
| Smim17 |
T |
C |
7: 6,432,325 (GRCm39) |
L89S |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,386,051 (GRCm39) |
N95S |
probably damaging |
Het |
| Tdrd9 |
A |
G |
12: 112,002,873 (GRCm39) |
K841E |
possibly damaging |
Het |
| Tep1 |
G |
T |
14: 51,092,024 (GRCm39) |
F570L |
possibly damaging |
Het |
| Tgm3 |
G |
A |
2: 129,868,734 (GRCm39) |
|
probably null |
Het |
| Tra2b |
T |
C |
16: 22,071,496 (GRCm39) |
Y128C |
possibly damaging |
Het |
| Vmn2r17 |
T |
C |
5: 109,576,110 (GRCm39) |
V327A |
probably benign |
Het |
| Wdr20rt |
A |
T |
12: 65,274,088 (GRCm39) |
D344V |
probably damaging |
Het |
| Zfp940 |
A |
G |
7: 29,544,363 (GRCm39) |
C515R |
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 |
|
|
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 |
|
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'- ATTGCTGCCATGACCCAGTGTG -3'
(R):5'- AGGAACAGGTGTGGTTTGCCTC -3'
Sequencing Primer
(F):5'- ATGACCCAGTGTGTTACCCTTAG -3'
(R):5'- CTTTCTGGCTTGGACTGACC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation