Incidental Mutation 'R6919:Lrrc9'
| ID |
539523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc9
|
| Ensembl Gene |
ENSMUSG00000021090 |
| Gene Name |
leucine rich repeat containing 9 |
| Synonyms |
4921529O18Rik, 4930432K16Rik |
| MMRRC Submission |
045039-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R6919 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
72481391-72561269 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72553167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1356
(F1356L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162159]
[ENSMUST00000220791]
[ENSMUST00000221360]
|
| AlphaFold |
Q8CDN9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162159
AA Change: F1356L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: F1356L
| 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 benign
Transcript: ENSMUST00000220791
AA Change: F270L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221360
|
| Meta Mutation Damage Score |
0.0578 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
99% (84/85) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700086D15Rik |
A |
G |
11: 65,043,356 (GRCm39) |
|
probably benign |
Het |
| 6430548M08Rik |
T |
C |
8: 120,872,221 (GRCm39) |
S50P |
probably damaging |
Het |
| Aacs |
A |
G |
5: 125,583,227 (GRCm39) |
D261G |
probably benign |
Het |
| Abcc4 |
T |
A |
14: 118,832,306 (GRCm39) |
T775S |
probably benign |
Het |
| Acsl6 |
A |
G |
11: 54,232,582 (GRCm39) |
|
probably null |
Het |
| Agbl5 |
T |
A |
5: 31,062,061 (GRCm39) |
F196I |
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,741,118 (GRCm39) |
T985A |
possibly damaging |
Het |
| Ak1 |
A |
T |
2: 32,521,134 (GRCm39) |
D101V |
possibly damaging |
Het |
| Alx1 |
A |
G |
10: 102,861,061 (GRCm39) |
Y156H |
probably damaging |
Het |
| Angptl7 |
T |
A |
4: 148,584,488 (GRCm39) |
S87C |
probably benign |
Het |
| Ankrd36 |
A |
G |
11: 5,579,299 (GRCm39) |
T188A |
probably benign |
Het |
| Arhgap11a |
A |
C |
2: 113,670,054 (GRCm39) |
S356R |
possibly damaging |
Het |
| Ascc3 |
G |
T |
10: 50,521,849 (GRCm39) |
E455* |
probably null |
Het |
| Atp6v0a2 |
G |
A |
5: 124,789,225 (GRCm39) |
|
probably null |
Het |
| B3gnt7 |
T |
C |
1: 86,233,416 (GRCm39) |
W104R |
probably damaging |
Het |
| Bbs9 |
G |
A |
9: 22,723,840 (GRCm39) |
|
probably null |
Het |
| Cc2d2a |
T |
A |
5: 43,860,557 (GRCm39) |
D544E |
probably benign |
Het |
| Cic |
C |
T |
7: 24,971,202 (GRCm39) |
T311I |
probably benign |
Het |
| Cngb1 |
T |
A |
8: 95,975,003 (GRCm39) |
R1157W |
probably null |
Het |
| Cntln |
A |
G |
4: 85,033,605 (GRCm39) |
H1310R |
probably benign |
Het |
| Cntnap5c |
A |
T |
17: 58,600,948 (GRCm39) |
I764F |
probably benign |
Het |
| Col26a1 |
T |
C |
5: 136,773,088 (GRCm39) |
Q362R |
possibly damaging |
Het |
| Cyp2c29 |
G |
A |
19: 39,279,585 (GRCm39) |
R100K |
probably benign |
Het |
| D17H6S53E |
C |
G |
17: 35,346,222 (GRCm39) |
D44E |
probably damaging |
Het |
| Dap3 |
A |
G |
3: 88,838,296 (GRCm39) |
V65A |
probably damaging |
Het |
| Dna2 |
A |
T |
10: 62,792,782 (GRCm39) |
I266F |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,412,631 (GRCm39) |
G57E |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,880,564 (GRCm39) |
V333E |
probably benign |
Het |
| Dpm1 |
A |
G |
2: 168,072,195 (GRCm39) |
Y27H |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,351,631 (GRCm39) |
Y150F |
possibly damaging |
Het |
| Emilin3 |
A |
T |
2: 160,750,018 (GRCm39) |
I577N |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,819,552 (GRCm39) |
T189A |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,173,597 (GRCm39) |
I2372T |
possibly damaging |
Het |
| Fbn2 |
A |
T |
18: 58,257,259 (GRCm39) |
|
probably null |
Het |
| Gnl1 |
A |
T |
17: 36,298,425 (GRCm39) |
R390* |
probably null |
Het |
| Hivep1 |
A |
G |
13: 42,336,928 (GRCm39) |
I2336V |
probably benign |
Het |
| Il17rb |
C |
G |
14: 29,726,228 (GRCm39) |
|
probably null |
Het |
| Itga9 |
T |
C |
9: 118,716,883 (GRCm39) |
W396R |
probably damaging |
Het |
| Katnal2 |
A |
G |
18: 77,098,734 (GRCm39) |
V152A |
probably benign |
Het |
| Kcnk3 |
A |
G |
5: 30,779,744 (GRCm39) |
T265A |
probably benign |
Het |
| Klhl1 |
T |
C |
14: 96,374,030 (GRCm39) |
Y672C |
probably benign |
Het |
| Leng8 |
C |
A |
7: 4,146,625 (GRCm39) |
N412K |
possibly damaging |
Het |
| Map7 |
A |
G |
10: 20,046,828 (GRCm39) |
|
probably benign |
Het |
| Mei1 |
T |
C |
15: 81,966,131 (GRCm39) |
F251S |
probably damaging |
Het |
| Mia2 |
A |
G |
12: 59,176,681 (GRCm39) |
E9G |
possibly damaging |
Het |
| Ms4a13 |
C |
A |
19: 11,149,249 (GRCm39) |
W182C |
probably benign |
Het |
| Muc16 |
C |
T |
9: 18,571,595 (GRCm39) |
R308K |
unknown |
Het |
| Or4c103 |
G |
A |
2: 88,514,028 (GRCm39) |
T16I |
possibly damaging |
Het |
| Or8g22 |
A |
G |
9: 38,958,827 (GRCm39) |
|
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,221,632 (GRCm39) |
V1998A |
probably benign |
Het |
| Pgm2 |
A |
T |
5: 64,254,368 (GRCm39) |
N51I |
probably benign |
Het |
| Piezo1 |
T |
A |
8: 123,217,020 (GRCm39) |
H1333L |
probably damaging |
Het |
| Prg2 |
G |
A |
2: 84,813,600 (GRCm39) |
V199M |
probably damaging |
Het |
| Prss51 |
T |
C |
14: 64,334,937 (GRCm39) |
V182A |
probably damaging |
Het |
| Psmb9 |
A |
T |
17: 34,402,199 (GRCm39) |
Y132* |
probably null |
Het |
| Ralyl |
T |
C |
3: 13,842,091 (GRCm39) |
Y76H |
probably damaging |
Het |
| Rnaset2a |
A |
T |
17: 8,349,114 (GRCm39) |
D174E |
probably benign |
Het |
| Rnft1 |
G |
A |
11: 86,386,156 (GRCm39) |
|
probably null |
Het |
| Robo2 |
T |
C |
16: 73,758,755 (GRCm39) |
Y676C |
probably damaging |
Het |
| Samd9l |
T |
G |
6: 3,376,313 (GRCm39) |
Y316S |
possibly damaging |
Het |
| Siah3 |
T |
A |
14: 75,693,578 (GRCm39) |
F28Y |
possibly damaging |
Het |
| Slc28a3 |
C |
T |
13: 58,721,257 (GRCm39) |
|
probably null |
Het |
| Slc8a1 |
A |
G |
17: 81,696,301 (GRCm39) |
F911S |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,722,015 (GRCm39) |
Y1055C |
probably benign |
Het |
| Speg |
T |
A |
1: 75,364,552 (GRCm39) |
L156* |
probably null |
Het |
| Spopl |
T |
G |
2: 23,407,873 (GRCm39) |
M269L |
probably benign |
Het |
| Tacr1 |
C |
T |
6: 82,534,054 (GRCm39) |
T360I |
probably benign |
Het |
| Tasor |
T |
A |
14: 27,171,758 (GRCm39) |
L397* |
probably null |
Het |
| Tmem262 |
A |
G |
19: 6,130,767 (GRCm39) |
E95G |
probably benign |
Het |
| Tmem68 |
G |
T |
4: 3,569,669 (GRCm39) |
T7N |
possibly damaging |
Het |
| Top3a |
T |
A |
11: 60,640,319 (GRCm39) |
I460F |
probably damaging |
Het |
| Trafd1 |
G |
A |
5: 121,522,137 (GRCm39) |
R5* |
probably null |
Het |
| Trim16 |
T |
A |
11: 62,731,695 (GRCm39) |
V435D |
possibly damaging |
Het |
| Tspan17 |
A |
G |
13: 54,943,846 (GRCm39) |
D236G |
probably damaging |
Het |
| Tssk2 |
A |
T |
16: 17,717,565 (GRCm39) |
M323L |
probably benign |
Het |
| Ubqln5 |
A |
G |
7: 103,778,215 (GRCm39) |
V203A |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,569,214 (GRCm39) |
L1134* |
probably null |
Het |
| Vmn1r37 |
C |
T |
6: 66,708,704 (GRCm39) |
S73F |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,834,734 (GRCm39) |
K1688E |
probably damaging |
Het |
| Zbtb39 |
A |
G |
10: 127,577,711 (GRCm39) |
D95G |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,527,160 (GRCm39) |
I1019N |
probably damaging |
Het |
| Zfp207 |
C |
T |
11: 80,286,329 (GRCm39) |
|
probably benign |
Het |
| Zmiz1 |
C |
T |
14: 25,644,062 (GRCm39) |
T169M |
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 |
|
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'- TTTGTGGCCATTCCCAAGCTG -3'
(R):5'- TCTATAAACATGGCATGTCCCAG -3'
Sequencing Primer
(F):5'- GCCATTCCCAAGCTGCCTTC -3'
(R):5'- TGTCATTTGAAGTACTGAACAGTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation