Incidental Mutation 'R7542:Lrrc9'
| ID |
583973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc9
|
| Ensembl Gene |
ENSMUSG00000021090 |
| Gene Name |
leucine rich repeat containing 9 |
| Synonyms |
4921529O18Rik, 4930432K16Rik |
| MMRRC Submission |
045614-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R7542 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
72481391-72561269 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72553094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1332
(I1332T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162159]
[ENSMUST00000220791]
[ENSMUST00000221360]
|
| AlphaFold |
Q8CDN9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162159
AA Change: I1332T
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: I1332T
| 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 |
possibly damaging
Transcript: ENSMUST00000220791
AA Change: I246T
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221360
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
T |
8: 41,133,848 (GRCm39) |
T439S |
possibly damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,732 (GRCm39) |
S1552T |
|
Het |
| Akap6 |
A |
G |
12: 53,116,017 (GRCm39) |
E1040G |
probably damaging |
Het |
| Alms1 |
A |
T |
6: 85,606,344 (GRCm39) |
T2196S |
possibly damaging |
Het |
| Alox12e |
T |
C |
11: 70,212,582 (GRCm39) |
Q89R |
possibly damaging |
Het |
| AW551984 |
T |
A |
9: 39,505,927 (GRCm39) |
E423D |
possibly damaging |
Het |
| Ccpg1 |
T |
A |
9: 72,919,741 (GRCm39) |
V452D |
probably damaging |
Het |
| Cdk5r1 |
T |
C |
11: 80,369,190 (GRCm39) |
F286L |
probably damaging |
Het |
| Cgref1 |
A |
T |
5: 31,090,937 (GRCm39) |
N292K |
probably damaging |
Het |
| Clgn |
A |
T |
8: 84,122,174 (GRCm39) |
S32C |
possibly damaging |
Het |
| Csk |
C |
A |
9: 57,536,283 (GRCm39) |
|
probably null |
Het |
| Dchs2 |
A |
G |
3: 83,176,591 (GRCm39) |
T850A |
probably benign |
Het |
| Defb2 |
T |
C |
8: 22,333,360 (GRCm39) |
V45A |
probably benign |
Het |
| Disp2 |
A |
G |
2: 118,621,599 (GRCm39) |
Q777R |
probably damaging |
Het |
| Dll1 |
C |
T |
17: 15,590,609 (GRCm39) |
C369Y |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,823,658 (GRCm39) |
I3766V |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,365,543 (GRCm39) |
|
probably benign |
Het |
| Fam53a |
A |
G |
5: 33,764,815 (GRCm39) |
M297T |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,035,504 (GRCm39) |
D3052G |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,035,770 (GRCm39) |
I3141F |
possibly damaging |
Het |
| Fbxw10 |
T |
C |
11: 62,741,422 (GRCm39) |
V180A |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,560,000 (GRCm39) |
D1502E |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,815,196 (GRCm39) |
N3643I |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,043,207 (GRCm39) |
S335P |
probably damaging |
Het |
| Glb1l3 |
C |
A |
9: 26,729,491 (GRCm39) |
A659S |
possibly damaging |
Het |
| Gm8011 |
A |
T |
14: 42,288,741 (GRCm39) |
R175* |
probably null |
Het |
| Gna15 |
A |
G |
10: 81,350,136 (GRCm39) |
S89P |
probably damaging |
Het |
| Grm2 |
A |
T |
9: 106,528,368 (GRCm39) |
L172Q |
probably damaging |
Het |
| Iqcn |
A |
G |
8: 71,161,415 (GRCm39) |
T203A |
possibly damaging |
Het |
| Kcnc3 |
A |
G |
7: 44,245,138 (GRCm39) |
D476G |
possibly damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,905,387 (GRCm39) |
T216A |
possibly damaging |
Het |
| Kdm2a |
G |
A |
19: 4,383,858 (GRCm39) |
|
probably benign |
Het |
| Maea |
T |
C |
5: 33,529,007 (GRCm39) |
C317R |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,272,354 (GRCm39) |
V707A |
probably benign |
Het |
| Mcph1 |
C |
T |
8: 18,681,705 (GRCm39) |
R281C |
probably benign |
Het |
| Med25 |
A |
T |
7: 44,541,215 (GRCm39) |
D99E |
probably damaging |
Het |
| Megf10 |
C |
A |
18: 57,322,642 (GRCm39) |
D62E |
probably benign |
Het |
| Minar1 |
T |
A |
9: 89,483,964 (GRCm39) |
T478S |
probably damaging |
Het |
| Myod1 |
A |
T |
7: 46,026,097 (GRCm39) |
M1L |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,659,394 (GRCm39) |
M741K |
possibly damaging |
Het |
| Odf2l |
A |
C |
3: 144,859,197 (GRCm39) |
K618T |
probably damaging |
Het |
| Or4c107 |
A |
T |
2: 88,789,119 (GRCm39) |
E103V |
probably benign |
Het |
| Pcdha2 |
G |
A |
18: 37,073,142 (GRCm39) |
G258R |
probably damaging |
Het |
| Pcdha3 |
G |
A |
18: 37,080,784 (GRCm39) |
A509T |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,673,971 (GRCm39) |
V315A |
possibly damaging |
Het |
| Prim1 |
T |
C |
10: 127,853,903 (GRCm39) |
V107A |
probably damaging |
Het |
| Pxdc1 |
A |
G |
13: 34,822,146 (GRCm39) |
|
probably null |
Het |
| Rab7b |
C |
T |
1: 131,639,379 (GRCm39) |
H182Y |
probably benign |
Het |
| Reln |
C |
A |
5: 22,160,179 (GRCm39) |
G2130V |
probably damaging |
Het |
| Retreg1 |
T |
A |
15: 25,941,296 (GRCm39) |
M1K |
probably null |
Het |
| Rras |
G |
A |
7: 44,669,766 (GRCm39) |
R94Q |
probably damaging |
Het |
| Rundc3a |
T |
A |
11: 102,290,871 (GRCm39) |
L318Q |
probably benign |
Het |
| Scgb2b18 |
A |
T |
7: 32,872,747 (GRCm39) |
|
probably null |
Het |
| Setd1b |
A |
T |
5: 123,286,510 (GRCm39) |
M519L |
unknown |
Het |
| Tep1 |
G |
A |
14: 51,099,948 (GRCm39) |
Q426* |
probably null |
Het |
| Tesk1 |
G |
T |
4: 43,445,941 (GRCm39) |
M291I |
probably benign |
Het |
| Tgs1 |
A |
G |
4: 3,595,439 (GRCm39) |
D536G |
probably benign |
Het |
| Thbs1 |
C |
T |
2: 117,951,655 (GRCm39) |
T825M |
probably damaging |
Het |
| Tmem59l |
T |
C |
8: 70,937,814 (GRCm39) |
N189D |
possibly damaging |
Het |
| Trim30c |
A |
T |
7: 104,031,425 (GRCm39) |
D463E |
possibly damaging |
Het |
| Trpc4 |
A |
G |
3: 54,223,075 (GRCm39) |
Y706C |
probably damaging |
Het |
| Ttc13 |
A |
T |
8: 125,401,842 (GRCm39) |
|
probably null |
Het |
| Tulp1 |
T |
C |
17: 28,582,729 (GRCm39) |
K140E |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,755,327 (GRCm39) |
I345V |
probably benign |
Het |
| Vmn2r43 |
T |
C |
7: 8,258,488 (GRCm39) |
M242V |
probably benign |
Het |
| Zcwpw1 |
T |
C |
5: 137,817,785 (GRCm39) |
V509A |
probably benign |
Het |
| Zfp202 |
T |
C |
9: 40,122,443 (GRCm39) |
C402R |
probably benign |
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 |
|
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 |
|
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'- TTTAAGGAAGAAGCGCCTGCC -3'
(R):5'- TCTATAAACATGGCATGTCCCAG -3'
Sequencing Primer
(F):5'- AAGAAGCGCCTGCCTGTAG -3'
(R):5'- AGTCAAAATGCCCATGATGTAATGC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation