Incidental Mutation 'R8108:Lrrc9'
| ID |
630750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc9
|
| Ensembl Gene |
ENSMUSG00000021090 |
| Gene Name |
leucine rich repeat containing 9 |
| Synonyms |
4930432K16Rik, 4921529O18Rik |
| MMRRC Submission |
067537-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
R8108 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
72441866-72530750 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 72454059 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 186
(L186F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161284]
[ENSMUST00000162159]
[ENSMUST00000221360]
|
| AlphaFold |
Q8CDN9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161284
AA Change: L186F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090
AA Change: L186F
| 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: L186F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: L186F
| 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 |
probably damaging
Transcript: ENSMUST00000221360
AA Change: L186F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.0%
- 20x: 97.3%
|
| Validation Efficiency |
99% (72/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
T |
A |
12: 84,017,361 |
H414Q |
probably benign |
Het |
| Actrt2 |
A |
T |
4: 154,667,036 |
D214E |
probably benign |
Het |
| Ccdc7a |
T |
C |
8: 128,980,153 |
T332A |
unknown |
Het |
| Chd9 |
C |
T |
8: 90,933,224 |
H271Y |
unknown |
Het |
| Depdc5 |
T |
G |
5: 32,945,049 |
D966E |
probably benign |
Het |
| Dolpp1 |
A |
G |
2: 30,396,246 |
Y119C |
probably benign |
Het |
| Dscam |
G |
C |
16: 96,643,879 |
D1537E |
probably benign |
Het |
| Dusp16 |
A |
G |
6: 134,739,873 |
I157T |
probably benign |
Het |
| Dyrk2 |
T |
C |
10: 118,859,829 |
D508G |
probably benign |
Het |
| Endov |
T |
C |
11: 119,507,411 |
V334A |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,687,883 |
V1956E |
unknown |
Het |
| Erich3 |
A |
T |
3: 154,720,115 |
Y83F |
possibly damaging |
Het |
| Fbrsl1 |
T |
C |
5: 110,378,379 |
|
probably null |
Het |
| Gm1110 |
T |
C |
9: 26,920,661 |
I65V |
probably damaging |
Het |
| Gm28374 |
A |
G |
19: 6,082,200 |
V19A |
|
Het |
| Gm436 |
A |
T |
4: 144,670,669 |
N164K |
probably benign |
Het |
| Gpr107 |
C |
A |
2: 31,184,869 |
H336Q |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,359,406 |
Y355C |
|
Het |
| Grm1 |
C |
A |
10: 10,720,132 |
R584L |
probably benign |
Het |
| Gse1 |
T |
C |
8: 120,229,810 |
S347P |
unknown |
Het |
| Ier3ip1 |
T |
A |
18: 76,940,525 |
I69K |
possibly damaging |
Het |
| Impact |
T |
G |
18: 12,984,331 |
L154V |
probably benign |
Het |
| Katnb1 |
T |
C |
8: 95,093,945 |
F141S |
possibly damaging |
Het |
| Kifap3 |
T |
A |
1: 163,797,362 |
N162K |
probably damaging |
Het |
| Klhl5 |
A |
G |
5: 65,148,587 |
|
probably null |
Het |
| Klre1 |
A |
G |
6: 129,584,222 |
D182G |
probably benign |
Het |
| Krt42 |
T |
A |
11: 100,266,957 |
Y227F |
probably benign |
Het |
| Lhcgr |
T |
A |
17: 88,742,050 |
K683* |
probably null |
Het |
| Lrrc37a |
G |
A |
11: 103,503,057 |
S514F |
probably benign |
Het |
| Metrn |
A |
G |
17: 25,795,030 |
V274A |
probably benign |
Het |
| Mettl25 |
A |
T |
10: 105,823,179 |
F414L |
possibly damaging |
Het |
| Mixl1 |
A |
G |
1: 180,696,702 |
V104A |
probably damaging |
Het |
| Myo9b |
T |
A |
8: 71,348,342 |
M1047K |
probably damaging |
Het |
| Nbea |
G |
A |
3: 55,819,315 |
A2081V |
probably benign |
Het |
| Ndufs1 |
A |
T |
1: 63,150,012 |
D551E |
possibly damaging |
Het |
| Nectin3 |
T |
C |
16: 46,464,121 |
T67A |
possibly damaging |
Het |
| Nme8 |
C |
T |
13: 19,650,960 |
V519I |
probably benign |
Het |
| Npat |
G |
T |
9: 53,571,129 |
G1379V |
probably benign |
Het |
| Obscn |
T |
A |
11: 59,061,634 |
T3870S |
probably benign |
Het |
| Olfr1000 |
T |
C |
2: 85,608,749 |
R54G |
possibly damaging |
Het |
| Olfr1288 |
T |
C |
2: 111,479,234 |
V150A |
possibly damaging |
Het |
| Olfr177 |
T |
C |
16: 58,872,236 |
M305V |
probably benign |
Het |
| Olfr379-ps1 |
T |
A |
11: 73,433,854 |
H124L |
unknown |
Het |
| Olfr871 |
T |
A |
9: 20,212,451 |
M34K |
possibly damaging |
Het |
| Olfr910 |
A |
G |
9: 38,539,410 |
N172D |
probably damaging |
Het |
| Parp8 |
A |
T |
13: 116,867,073 |
Y769* |
probably null |
Het |
| Pcnx |
C |
T |
12: 81,918,819 |
R59* |
probably null |
Het |
| Pdzd2 |
G |
A |
15: 12,373,506 |
S2181L |
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,711,161 |
E65G |
probably damaging |
Het |
| Ppif |
C |
T |
14: 25,698,326 |
T157M |
probably damaging |
Het |
| Ppp3ca |
T |
A |
3: 136,932,225 |
|
probably null |
Het |
| Proser1 |
T |
A |
3: 53,472,088 |
|
probably null |
Het |
| Reg3d |
T |
A |
6: 78,376,079 |
K174* |
probably null |
Het |
| Rubcn |
A |
T |
16: 32,856,950 |
L55Q |
probably damaging |
Het |
| Sec14l3 |
T |
C |
11: 4,066,198 |
L39P |
probably damaging |
Het |
| Ska3 |
A |
G |
14: 57,826,102 |
I4T |
probably damaging |
Het |
| Slc30a10 |
A |
G |
1: 185,464,154 |
I338V |
possibly damaging |
Het |
| Slc35g1 |
C |
G |
19: 38,402,829 |
S186R |
probably damaging |
Het |
| Slc35g1 |
T |
A |
19: 38,402,831 |
L187H |
probably damaging |
Het |
| Spata5 |
T |
C |
3: 37,431,782 |
S218P |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 50,742,086 |
I659V |
probably benign |
Het |
| Tbl3 |
G |
T |
17: 24,700,916 |
D751E |
probably benign |
Het |
| Tdrd3 |
T |
A |
14: 87,486,266 |
D311E |
possibly damaging |
Het |
| Tenm4 |
T |
C |
7: 96,854,728 |
F1335S |
probably benign |
Het |
| Tm2d1 |
A |
T |
4: 98,375,023 |
C83S |
probably damaging |
Het |
| Tnfrsf22 |
A |
T |
7: 143,638,373 |
V192D |
unknown |
Het |
| Trpm6 |
A |
G |
19: 18,811,790 |
T575A |
probably damaging |
Het |
| Uri1 |
T |
C |
7: 37,981,673 |
D102G |
possibly damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,103,050 |
C570S |
probably damaging |
Het |
| Vps13a |
C |
T |
19: 16,640,787 |
V2906I |
probably damaging |
Het |
| Zfp472 |
T |
C |
17: 32,978,003 |
Y351H |
possibly damaging |
Het |
| Zfp874a |
G |
T |
13: 67,443,234 |
Y110* |
probably null |
Het |
| Zfp986 |
T |
A |
4: 145,899,305 |
N178K |
probably benign |
Het |
|
| Other mutations in Lrrc9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Lrrc9
|
APN |
12 |
72,486,243 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
IGL00843:Lrrc9
|
APN |
12 |
72,463,417 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
IGL01923:Lrrc9
|
APN |
12 |
72,510,412 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02027:Lrrc9
|
APN |
12 |
72,470,334 (GRCm38) |
splice site |
probably benign |
|
|
IGL02271:Lrrc9
|
APN |
12 |
72,510,381 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02398:Lrrc9
|
APN |
12 |
72,466,903 (GRCm38) |
missense |
probably benign |
|
|
IGL02795:Lrrc9
|
APN |
12 |
72,478,768 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02931:Lrrc9
|
APN |
12 |
72,454,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03257:Lrrc9
|
APN |
12 |
72,449,768 (GRCm38) |
missense |
probably benign |
|
|
BB006:Lrrc9
|
UTSW |
12 |
72,486,297 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
BB016:Lrrc9
|
UTSW |
12 |
72,486,297 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02799:Lrrc9
|
UTSW |
12 |
72,506,404 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0172:Lrrc9
|
UTSW |
12 |
72,463,486 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R0315:Lrrc9
|
UTSW |
12 |
72,456,028 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0492:Lrrc9
|
UTSW |
12 |
72,478,763 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R0617:Lrrc9
|
UTSW |
12 |
72,483,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0639:Lrrc9
|
UTSW |
12 |
72,486,288 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0987:Lrrc9
|
UTSW |
12 |
72,510,382 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1325:Lrrc9
|
UTSW |
12 |
72,497,104 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1465:Lrrc9
|
UTSW |
12 |
72,500,759 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1465:Lrrc9
|
UTSW |
12 |
72,500,759 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1479:Lrrc9
|
UTSW |
12 |
72,460,825 (GRCm38) |
nonsense |
probably null |
|
|
R1564:Lrrc9
|
UTSW |
12 |
72,487,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1626:Lrrc9
|
UTSW |
12 |
72,495,661 (GRCm38) |
splice site |
probably null |
|
|
R1632:Lrrc9
|
UTSW |
12 |
72,460,020 (GRCm38) |
splice site |
probably null |
|
|
R1715:Lrrc9
|
UTSW |
12 |
72,477,299 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1743:Lrrc9
|
UTSW |
12 |
72,456,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1779:Lrrc9
|
UTSW |
12 |
72,455,998 (GRCm38) |
nonsense |
probably null |
|
|
R1866:Lrrc9
|
UTSW |
12 |
72,497,138 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1878:Lrrc9
|
UTSW |
12 |
72,476,164 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1990:Lrrc9
|
UTSW |
12 |
72,497,861 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2361:Lrrc9
|
UTSW |
12 |
72,463,470 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R3752:Lrrc9
|
UTSW |
12 |
72,460,806 (GRCm38) |
nonsense |
probably null |
|
|
R3833:Lrrc9
|
UTSW |
12 |
72,482,991 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4134:Lrrc9
|
UTSW |
12 |
72,466,966 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4651:Lrrc9
|
UTSW |
12 |
72,477,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4652:Lrrc9
|
UTSW |
12 |
72,477,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4659:Lrrc9
|
UTSW |
12 |
72,470,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4831:Lrrc9
|
UTSW |
12 |
72,499,679 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4857:Lrrc9
|
UTSW |
12 |
72,499,692 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5017:Lrrc9
|
UTSW |
12 |
72,506,325 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5163:Lrrc9
|
UTSW |
12 |
72,449,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5279:Lrrc9
|
UTSW |
12 |
72,495,594 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5434:Lrrc9
|
UTSW |
12 |
72,454,088 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5783:Lrrc9
|
UTSW |
12 |
72,456,053 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R6021:Lrrc9
|
UTSW |
12 |
72,469,231 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6214:Lrrc9
|
UTSW |
12 |
72,459,853 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6255:Lrrc9
|
UTSW |
12 |
72,487,023 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6538:Lrrc9
|
UTSW |
12 |
72,500,929 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6563:Lrrc9
|
UTSW |
12 |
72,486,395 (GRCm38) |
splice site |
probably null |
|
|
R6672:Lrrc9
|
UTSW |
12 |
72,473,936 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6919:Lrrc9
|
UTSW |
12 |
72,506,393 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6929:Lrrc9
|
UTSW |
12 |
72,450,772 (GRCm38) |
missense |
probably benign |
0.41 |
|
R7092:Lrrc9
|
UTSW |
12 |
72,463,464 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7150:Lrrc9
|
UTSW |
12 |
72,466,952 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7338:Lrrc9
|
UTSW |
12 |
72,463,531 (GRCm38) |
splice site |
probably null |
|
|
R7398:Lrrc9
|
UTSW |
12 |
72,500,816 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7477:Lrrc9
|
UTSW |
12 |
72,503,527 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7501:Lrrc9
|
UTSW |
12 |
72,449,716 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7542:Lrrc9
|
UTSW |
12 |
72,506,320 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7816:Lrrc9
|
UTSW |
12 |
72,495,692 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7870:Lrrc9
|
UTSW |
12 |
72,486,190 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7929:Lrrc9
|
UTSW |
12 |
72,486,297 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8042:Lrrc9
|
UTSW |
12 |
72,460,906 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8192:Lrrc9
|
UTSW |
12 |
72,449,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8244:Lrrc9
|
UTSW |
12 |
72,499,610 (GRCm38) |
missense |
probably benign |
0.22 |
|
R8333:Lrrc9
|
UTSW |
12 |
72,481,543 (GRCm38) |
missense |
probably benign |
0.38 |
|
R9288:Lrrc9
|
UTSW |
12 |
72,476,084 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9324:Lrrc9
|
UTSW |
12 |
72,449,397 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9342:Lrrc9
|
UTSW |
12 |
72,459,993 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9557:Lrrc9
|
UTSW |
12 |
72,486,207 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9624:Lrrc9
|
UTSW |
12 |
72,450,812 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9677:Lrrc9
|
UTSW |
12 |
72,450,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0025:Lrrc9
|
UTSW |
12 |
72,497,060 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Lrrc9
|
UTSW |
12 |
72,477,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAAGGTTGGTCTTCTCTTC -3'
(R):5'- ACAGATACCTGACTGCGACC -3'
Sequencing Primer
(F):5'- TCACATGTCCTTTCCTTAGAGAGAAG -3'
(R):5'- GCGACCGCACTTACATCCG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation