Incidental Mutation 'R9557:Lrrc9'
| ID |
720819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc9
|
| Ensembl Gene |
ENSMUSG00000021090 |
| Gene Name |
leucine rich repeat containing 9 |
| Synonyms |
4921529O18Rik, 4930432K16Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R9557 (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 A
at 72532981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 950
(M950K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161284]
[ENSMUST00000162159]
[ENSMUST00000221360]
|
| AlphaFold |
Q8CDN9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161284
AA Change: M951K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090
AA Change: M951K
| 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 benign
Transcript: ENSMUST00000162159
AA Change: M950K
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: M950K
| 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: ENSMUST00000221360
AA Change: M951K
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
A |
3: 59,659,160 (GRCm39) |
N204K |
possibly damaging |
Het |
| Aadacl2fm3 |
T |
G |
3: 59,784,654 (GRCm39) |
F376V |
possibly damaging |
Het |
| Abca5 |
A |
G |
11: 110,197,109 (GRCm39) |
L523P |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 35,091,327 (GRCm39) |
V590A |
probably damaging |
Het |
| Alg1 |
A |
T |
16: 5,057,820 (GRCm39) |
D238V |
probably damaging |
Het |
| Ankrd55 |
C |
A |
13: 112,485,347 (GRCm39) |
P187H |
probably damaging |
Het |
| Aox4 |
G |
T |
1: 58,285,095 (GRCm39) |
V616F |
probably benign |
Het |
| Apc |
C |
A |
18: 34,451,412 (GRCm39) |
H2769Q |
probably damaging |
Het |
| Bach1 |
C |
G |
16: 87,516,603 (GRCm39) |
S381R |
probably benign |
Het |
| C2cd2l |
G |
A |
9: 44,231,127 (GRCm39) |
A20V |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,904,223 (GRCm39) |
D266G |
probably damaging |
Het |
| Ces4a |
A |
G |
8: 105,869,527 (GRCm39) |
S233G |
possibly damaging |
Het |
| Comp |
T |
A |
8: 70,829,854 (GRCm39) |
D359E |
probably benign |
Het |
| Cyp2b13 |
A |
C |
7: 25,780,123 (GRCm39) |
N91T |
probably benign |
Het |
| Dhx9 |
A |
C |
1: 153,333,292 (GRCm39) |
M1151R |
probably benign |
Het |
| Dync2i2 |
G |
A |
2: 29,922,534 (GRCm39) |
A366V |
possibly damaging |
Het |
| E2f5 |
G |
T |
3: 14,653,311 (GRCm39) |
L142F |
probably benign |
Het |
| Egflam |
G |
T |
15: 7,241,656 (GRCm39) |
N917K |
probably damaging |
Het |
| Ercc6l2 |
C |
T |
13: 63,989,936 (GRCm39) |
R254C |
probably damaging |
Het |
| Erh |
G |
A |
12: 80,689,571 (GRCm39) |
P18S |
probably benign |
Het |
| Fam110b |
T |
C |
4: 5,799,064 (GRCm39) |
S161P |
probably damaging |
Het |
| Fam210a |
TAAAATGTTCCAAA |
TAAA |
18: 68,408,848 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
T |
C |
2: 125,180,458 (GRCm39) |
I1775V |
probably damaging |
Het |
| Fry |
C |
A |
5: 150,389,781 (GRCm39) |
Q137K |
|
Het |
| Gm4787 |
A |
T |
12: 81,426,074 (GRCm39) |
L28* |
probably null |
Het |
| Gpr179 |
A |
G |
11: 97,235,029 (GRCm39) |
F434L |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 49,404,105 (GRCm39) |
Y252C |
probably damaging |
Het |
| H1f0 |
C |
T |
15: 78,912,947 (GRCm39) |
P9L |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,459,617 (GRCm39) |
T829A |
possibly damaging |
Het |
| Ing4 |
A |
G |
6: 125,025,354 (GRCm39) |
E245G |
probably benign |
Het |
| Lgr4 |
C |
T |
2: 109,827,084 (GRCm39) |
A196V |
probably damaging |
Het |
| Lrrc51 |
T |
A |
7: 101,562,329 (GRCm39) |
K176N |
probably benign |
Het |
| Lrrd1 |
A |
T |
5: 3,901,432 (GRCm39) |
D579V |
probably damaging |
Het |
| Magi3 |
C |
T |
3: 103,922,473 (GRCm39) |
A1415T |
probably benign |
Het |
| Magi3 |
A |
C |
3: 103,924,933 (GRCm39) |
I1072S |
probably damaging |
Het |
| Mast1 |
G |
A |
8: 85,657,474 (GRCm39) |
T101I |
probably damaging |
Het |
| Mccc1 |
A |
T |
3: 36,049,976 (GRCm39) |
V72E |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Megf8 |
A |
T |
7: 25,058,511 (GRCm39) |
Q2169L |
possibly damaging |
Het |
| Mllt6 |
A |
G |
11: 97,564,310 (GRCm39) |
D342G |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,372,697 (GRCm39) |
T4050S |
probably benign |
Het |
| Nbeal1 |
A |
G |
1: 60,274,509 (GRCm39) |
T307A |
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,771,552 (GRCm39) |
T228A |
probably benign |
Het |
| Or52d3 |
T |
C |
7: 104,229,768 (GRCm39) |
I305T |
probably damaging |
Het |
| Plat |
T |
C |
8: 23,262,669 (GRCm39) |
F125L |
probably benign |
Het |
| Ppm1b |
T |
A |
17: 85,301,501 (GRCm39) |
M127K |
probably benign |
Het |
| Ppp4r1 |
C |
A |
17: 66,110,258 (GRCm39) |
D52E |
probably benign |
Het |
| Rasgrp3 |
T |
G |
17: 75,807,139 (GRCm39) |
I201S |
probably damaging |
Het |
| Rfpl4b |
T |
A |
10: 38,696,870 (GRCm39) |
M244L |
probably benign |
Het |
| Rhbdl3 |
A |
T |
11: 80,244,277 (GRCm39) |
H328L |
probably benign |
Het |
| Rsad2 |
T |
A |
12: 26,495,521 (GRCm39) |
I325F |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,963,847 (GRCm39) |
V485A |
probably benign |
Het |
| Slc6a5 |
A |
G |
7: 49,561,474 (GRCm39) |
N2S |
probably benign |
Het |
| Sox4 |
G |
T |
13: 29,136,913 (GRCm39) |
A31E |
probably damaging |
Het |
| Suv39h2 |
A |
T |
2: 3,475,451 (GRCm39) |
C2S |
|
Het |
| Tet2 |
A |
G |
3: 133,191,566 (GRCm39) |
I956T |
probably benign |
Het |
| Topaz1 |
A |
G |
9: 122,578,530 (GRCm39) |
D480G |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ugt1a6b |
G |
T |
1: 88,034,820 (GRCm39) |
G53* |
probably null |
Het |
| Vmn1r173 |
T |
C |
7: 23,402,209 (GRCm39) |
V148A |
probably damaging |
Het |
| Vnn1 |
G |
A |
10: 23,776,723 (GRCm39) |
C358Y |
probably damaging |
Het |
| Wdr89 |
A |
G |
12: 75,679,666 (GRCm39) |
V196A |
probably damaging |
Het |
| Wfdc6a |
T |
A |
2: 164,425,758 (GRCm39) |
D71V |
possibly damaging |
Het |
| Zc3h3 |
T |
C |
15: 75,711,145 (GRCm39) |
K439E |
probably damaging |
Het |
| Zfp367 |
T |
C |
13: 64,300,586 (GRCm39) |
H73R |
probably damaging |
Het |
| Zfp955a |
G |
A |
17: 33,461,107 (GRCm39) |
R342* |
probably null |
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 |
|
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 |
|
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'- CAAAATTTGACGCATGAGTGGAAC -3'
(R):5'- AGGCGGTCACCTTTAAGTTGTAG -3'
Sequencing Primer
(F):5'- ACGCATGAGTGGAACTTGCTC -3'
(R):5'- AGATCTCCTGGTTCACAGCTATGTAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation