Incidental Mutation 'R7501:Lrrc9'
| ID |
581492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc9
|
| Ensembl Gene |
ENSMUSG00000021090 |
| Gene Name |
leucine rich repeat containing 9 |
| Synonyms |
4921529O18Rik, 4930432K16Rik |
| MMRRC Submission |
045574-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R7501 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
72481391-72561269 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 72496490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 39
(M39I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161284]
[ENSMUST00000162159]
[ENSMUST00000221360]
|
| AlphaFold |
Q8CDN9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161284
AA Change: M39I
PolyPhen 2
Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090
AA Change: M39I
| 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 |
probably damaging
Transcript: ENSMUST00000162159
AA Change: M39I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: M39I
| 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: ENSMUST00000221360
AA Change: M39I
PolyPhen 2
Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.0851 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
A |
G |
3: 36,142,974 (GRCm39) |
N503S |
probably benign |
Het |
| Adam1a |
C |
T |
5: 121,657,011 (GRCm39) |
A761T |
possibly damaging |
Het |
| Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,688,522 (GRCm39) |
E238G |
|
Het |
| Ap3b2 |
A |
T |
7: 81,123,194 (GRCm39) |
I440K |
probably damaging |
Het |
| Atp2a1 |
G |
A |
7: 126,049,344 (GRCm39) |
T566I |
probably benign |
Het |
| B3galnt1 |
T |
C |
3: 69,482,632 (GRCm39) |
I210V |
probably benign |
Het |
| Bag5 |
T |
C |
12: 111,676,722 (GRCm39) |
K367R |
probably benign |
Het |
| Cdc25b |
T |
C |
2: 131,036,080 (GRCm39) |
Y410H |
probably damaging |
Het |
| Cgref1 |
G |
T |
5: 31,102,800 (GRCm39) |
P7Q |
probably damaging |
Het |
| Cnot6 |
T |
C |
11: 49,576,159 (GRCm39) |
I136V |
probably benign |
Het |
| Comp |
A |
G |
8: 70,832,059 (GRCm39) |
D500G |
possibly damaging |
Het |
| Dnah7b |
T |
C |
1: 46,395,714 (GRCm39) |
L3872P |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,175,336 (GRCm39) |
L91Q |
possibly damaging |
Het |
| Fancd2 |
T |
C |
6: 113,525,364 (GRCm39) |
V280A |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,012,597 (GRCm39) |
Y2297* |
probably null |
Het |
| Fem1c |
A |
T |
18: 46,638,868 (GRCm39) |
M378K |
probably damaging |
Het |
| Gata6 |
A |
G |
18: 11,054,082 (GRCm39) |
T4A |
probably damaging |
Het |
| Gatb |
G |
C |
3: 85,544,297 (GRCm39) |
V422L |
probably damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,059,508 (GRCm39) |
D510E |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,502,436 (GRCm39) |
Y366N |
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,942,666 (GRCm39) |
H492R |
probably damaging |
Het |
| H2bc6 |
A |
G |
13: 23,769,776 (GRCm39) |
I55T |
possibly damaging |
Het |
| Hecw2 |
T |
C |
1: 53,953,031 (GRCm39) |
|
probably null |
Het |
| Hnrnph1 |
A |
C |
11: 50,270,383 (GRCm39) |
E62D |
probably benign |
Het |
| Itga2 |
A |
G |
13: 115,012,095 (GRCm39) |
V274A |
probably damaging |
Het |
| Kdm5d |
T |
A |
Y: 941,488 (GRCm39) |
W1230R |
probably damaging |
Het |
| Lctl |
A |
T |
9: 64,038,861 (GRCm39) |
M317L |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,463,471 (GRCm39) |
D570G |
probably damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,877,419 (GRCm39) |
I402N |
probably damaging |
Het |
| Mst1 |
G |
A |
9: 107,959,748 (GRCm39) |
G297D |
probably damaging |
Het |
| Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
| Nbr1 |
G |
A |
11: 101,457,026 (GRCm39) |
R163Q |
probably damaging |
Het |
| Nlrp4f |
A |
G |
13: 65,342,143 (GRCm39) |
F501L |
probably damaging |
Het |
| Nup133 |
A |
C |
8: 124,649,153 (GRCm39) |
I563S |
probably benign |
Het |
| Oacyl |
T |
G |
18: 65,858,369 (GRCm39) |
|
probably null |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Plxna2 |
C |
T |
1: 194,326,203 (GRCm39) |
R46C |
possibly damaging |
Het |
| Ppp1r26 |
T |
A |
2: 28,340,749 (GRCm39) |
D126E |
probably damaging |
Het |
| Prl6a1 |
A |
T |
13: 27,500,282 (GRCm39) |
R84S |
possibly damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,001,746 (GRCm39) |
Q1279* |
probably null |
Het |
| Ptx4 |
C |
T |
17: 25,344,166 (GRCm39) |
T472I |
possibly damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,528,358 (GRCm39) |
V416A |
probably damaging |
Het |
| Rbfox2 |
A |
T |
15: 76,989,834 (GRCm39) |
D231E |
probably benign |
Het |
| Reln |
A |
T |
5: 22,432,636 (GRCm39) |
F121L |
possibly damaging |
Het |
| Rfx7 |
G |
A |
9: 72,524,054 (GRCm39) |
V415I |
probably benign |
Het |
| Scaf4 |
A |
T |
16: 90,026,964 (GRCm39) |
M951K |
unknown |
Het |
| Sdf4 |
T |
C |
4: 156,080,977 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
C |
2: 26,331,863 (GRCm39) |
T51A |
probably damaging |
Het |
| Sema3a |
A |
G |
5: 13,607,008 (GRCm39) |
N281S |
probably damaging |
Het |
| Snai2 |
G |
A |
16: 14,524,754 (GRCm39) |
V87I |
possibly damaging |
Het |
| Spata31f1e |
T |
C |
4: 42,791,357 (GRCm39) |
E925G |
probably damaging |
Het |
| Synj2 |
T |
A |
17: 6,040,514 (GRCm39) |
S197T |
possibly damaging |
Het |
| Syt6 |
A |
T |
3: 103,495,018 (GRCm39) |
M328L |
probably benign |
Het |
| Tdrd12 |
A |
G |
7: 35,177,516 (GRCm39) |
V946A |
unknown |
Het |
| Trat1 |
A |
T |
16: 48,574,657 (GRCm39) |
|
probably null |
Het |
| Vmn1r75 |
T |
A |
7: 11,614,997 (GRCm39) |
I243K |
possibly damaging |
Het |
| Vmn2r83 |
G |
A |
10: 79,327,771 (GRCm39) |
C793Y |
probably damaging |
Het |
| Wnt9a |
G |
A |
11: 59,219,583 (GRCm39) |
G203D |
probably damaging |
Het |
| Xrn2 |
T |
C |
2: 146,871,676 (GRCm39) |
I366T |
probably damaging |
Het |
| Zfp280d |
A |
G |
9: 72,269,224 (GRCm39) |
D787G |
possibly damaging |
Het |
| Zfp706 |
T |
C |
15: 37,002,169 (GRCm39) |
T53A |
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 |
|
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 |
|
|
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'- AGGCATCAGTAGTGAGATCCTG -3'
(R):5'- TCCAAAGTCAAGAACTCAGGCTTAG -3'
Sequencing Primer
(F):5'- CATCAGTAGTGAGATCCTGGTGTC -3'
(R):5'- GTCAAGAACTCAGGCTTAGATGTACC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation