Incidental Mutation 'R6255:Lrrc9'
ID |
506071 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc9
|
Ensembl Gene |
ENSMUSG00000021090 |
Gene Name |
leucine rich repeat containing 9 |
Synonyms |
4921529O18Rik, 4930432K16Rik |
MMRRC Submission |
044372-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
R6255 (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 72533797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1022
(M1022K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152125
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161284]
[ENSMUST00000162159]
[ENSMUST00000221360]
|
AlphaFold |
Q8CDN9 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161195
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161284
AA Change: M1022K
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000124602 Gene: ENSMUSG00000021090 AA Change: M1022K
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: M1021K
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000124394 Gene: ENSMUSG00000021090 AA Change: M1021K
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: M1022K
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
A |
13: 119,602,659 (GRCm39) |
V7E |
possibly damaging |
Het |
Aars2 |
G |
A |
17: 45,825,535 (GRCm39) |
G333S |
probably damaging |
Het |
Aen |
T |
A |
7: 78,555,592 (GRCm39) |
I85N |
probably damaging |
Het |
Ahnak |
C |
A |
19: 8,985,389 (GRCm39) |
H2224Q |
possibly damaging |
Het |
Aldh18a1 |
C |
T |
19: 40,568,487 (GRCm39) |
R41H |
possibly damaging |
Het |
Bpifb9b |
T |
A |
2: 154,151,284 (GRCm39) |
W2R |
probably damaging |
Het |
Caprin2 |
A |
G |
6: 148,779,390 (GRCm39) |
I139T |
probably benign |
Het |
Cdhr3 |
T |
A |
12: 33,103,474 (GRCm39) |
N381I |
probably damaging |
Het |
Cecr2 |
A |
G |
6: 120,735,011 (GRCm39) |
Y721C |
probably damaging |
Het |
Cfhr4 |
A |
T |
1: 139,680,749 (GRCm39) |
C256* |
probably null |
Het |
Cherp |
G |
T |
8: 73,224,725 (GRCm39) |
A125D |
probably damaging |
Het |
Cped1 |
G |
A |
6: 22,138,714 (GRCm39) |
|
probably null |
Het |
Ctdp1 |
T |
A |
18: 80,502,512 (GRCm39) |
|
probably null |
Het |
Cyp2c55 |
T |
C |
19: 39,007,111 (GRCm39) |
I169T |
probably benign |
Het |
Cyp4a31 |
T |
C |
4: 115,432,117 (GRCm39) |
L418P |
possibly damaging |
Het |
Efcab7 |
T |
C |
4: 99,717,627 (GRCm39) |
|
probably benign |
Het |
Efcab8 |
T |
C |
2: 153,652,188 (GRCm39) |
W466R |
possibly damaging |
Het |
Ehd3 |
C |
A |
17: 74,112,408 (GRCm39) |
N57K |
probably benign |
Het |
Ern2 |
C |
A |
7: 121,772,495 (GRCm39) |
K654N |
probably damaging |
Het |
Fbh1 |
A |
T |
2: 11,753,257 (GRCm39) |
F879L |
probably benign |
Het |
Gde1 |
T |
C |
7: 118,291,004 (GRCm39) |
D92G |
probably null |
Het |
Heatr5b |
A |
G |
17: 79,110,863 (GRCm39) |
V995A |
probably damaging |
Het |
Ifrd2 |
A |
G |
9: 107,469,290 (GRCm39) |
E346G |
probably damaging |
Het |
Ism1 |
AACGGACCCGTTCTTGTGGCTATGCA |
AA |
2: 139,587,962 (GRCm39) |
|
probably benign |
Het |
Itgb4 |
T |
C |
11: 115,888,963 (GRCm39) |
V1102A |
possibly damaging |
Het |
Itgb6 |
A |
T |
2: 60,435,620 (GRCm39) |
I710N |
probably damaging |
Het |
Kif1a |
T |
C |
1: 92,947,705 (GRCm39) |
K1578E |
probably damaging |
Het |
Kif9 |
T |
C |
9: 110,346,902 (GRCm39) |
|
probably null |
Het |
Kitl |
T |
C |
10: 99,925,095 (GRCm39) |
*57Q |
probably null |
Het |
Lrat |
C |
A |
3: 82,810,812 (GRCm39) |
V70F |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,566,895 (GRCm39) |
T1875A |
unknown |
Het |
Mup4 |
T |
A |
4: 59,957,890 (GRCm39) |
N171I |
probably damaging |
Het |
Npas4 |
G |
A |
19: 5,036,403 (GRCm39) |
T587I |
probably damaging |
Het |
Oas3 |
A |
G |
5: 120,909,295 (GRCm39) |
V217A |
probably benign |
Het |
Or6c1b |
A |
G |
10: 129,273,557 (GRCm39) |
N292S |
possibly damaging |
Het |
Osbp |
C |
A |
19: 11,955,317 (GRCm39) |
A323D |
possibly damaging |
Het |
Panx2 |
G |
A |
15: 88,951,821 (GRCm39) |
R96H |
probably damaging |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,254,341 (GRCm39) |
R385G |
possibly damaging |
Het |
Pkn2 |
T |
C |
3: 142,517,360 (GRCm39) |
T476A |
probably damaging |
Het |
Plekha4 |
T |
C |
7: 45,203,226 (GRCm39) |
|
probably benign |
Het |
Ppfibp2 |
T |
C |
7: 107,280,969 (GRCm39) |
S94P |
probably damaging |
Het |
Pramel7 |
T |
A |
2: 87,320,007 (GRCm39) |
I429L |
probably benign |
Het |
Rif1 |
A |
G |
2: 51,975,065 (GRCm39) |
K325E |
probably damaging |
Het |
Ror2 |
T |
C |
13: 53,264,578 (GRCm39) |
Y826C |
probably damaging |
Het |
Rsph10b |
G |
A |
5: 143,896,564 (GRCm39) |
G19R |
probably damaging |
Het |
Slc20a1 |
A |
G |
2: 129,049,924 (GRCm39) |
N361D |
probably damaging |
Het |
Slc26a9 |
A |
G |
1: 131,691,647 (GRCm39) |
D630G |
probably benign |
Het |
Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,181,314 (GRCm39) |
|
probably null |
Het |
Tspan10 |
T |
A |
11: 120,335,368 (GRCm39) |
C159* |
probably null |
Het |
Uba6 |
G |
A |
5: 86,312,624 (GRCm39) |
T23I |
probably benign |
Het |
Vmn2r74 |
T |
C |
7: 85,601,659 (GRCm39) |
T660A |
possibly damaging |
Het |
Vwa5b1 |
T |
C |
4: 138,305,983 (GRCm39) |
N905S |
probably benign |
Het |
Zfp831 |
T |
C |
2: 174,488,214 (GRCm39) |
L963P |
possibly damaging |
Het |
Zfp990 |
T |
A |
4: 145,264,359 (GRCm39) |
N452K |
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 |
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 |
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'- AGACTACCTTATTTTCCACGAACAC -3'
(R):5'- ATAAGCATGGTGGGGTTCAG -3'
Sequencing Primer
(F):5'- TCCACGAACACTCATTCTATGATAG -3'
(R):5'- AGCATGGTGGGGTTCAGTATAATAC -3'
|
Posted On |
2018-02-28 |