Incidental Mutation 'R9324:Lrrc9'
| ID |
706404 |
| 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 # |
R9324 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
72481391-72561269 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 72496171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 15
(E15D)
|
| 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: E15D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090
AA Change: E15D
| 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: E15D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: E15D
| 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: E15D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
A |
G |
7: 119,179,856 (GRCm39) |
H358R |
probably benign |
Het |
| Arid3c |
A |
G |
4: 41,730,138 (GRCm39) |
L19S |
possibly damaging |
Het |
| Arpp21 |
T |
A |
9: 111,986,765 (GRCm39) |
D262V |
probably damaging |
Het |
| Atp4a |
A |
C |
7: 30,415,207 (GRCm39) |
I276L |
probably benign |
Het |
| Axl |
C |
G |
7: 25,460,982 (GRCm39) |
E676Q |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,055,118 (GRCm39) |
D193G |
probably damaging |
Het |
| Crym |
A |
G |
7: 119,789,005 (GRCm39) |
V274A |
probably damaging |
Het |
| Efcab5 |
T |
A |
11: 77,004,546 (GRCm39) |
H924L |
possibly damaging |
Het |
| Eif1ad7 |
T |
A |
12: 88,238,709 (GRCm39) |
N17I |
unknown |
Het |
| Eif3l |
T |
A |
15: 78,978,423 (GRCm39) |
M560K |
probably benign |
Het |
| Fam234b |
C |
A |
6: 135,202,793 (GRCm39) |
Y382* |
probably null |
Het |
| Fbxw19 |
T |
C |
9: 109,313,440 (GRCm39) |
K253E |
possibly damaging |
Het |
| Fhip1a |
T |
C |
3: 85,638,053 (GRCm39) |
D82G |
probably benign |
Het |
| Flt3 |
A |
G |
5: 147,313,790 (GRCm39) |
S87P |
probably benign |
Het |
| Garin3 |
A |
T |
11: 46,295,810 (GRCm39) |
I61F |
|
Het |
| Ggnbp2 |
A |
G |
11: 84,725,174 (GRCm39) |
L627S |
probably damaging |
Het |
| Gm26661 |
T |
G |
14: 7,791,765 (GRCm38) |
V60G |
unknown |
Het |
| Golt1a |
T |
C |
1: 133,247,094 (GRCm39) |
L34P |
probably damaging |
Het |
| Gp5 |
T |
C |
16: 30,127,808 (GRCm39) |
M289V |
possibly damaging |
Het |
| Gpr63 |
C |
G |
4: 25,008,432 (GRCm39) |
H385Q |
possibly damaging |
Het |
| Hcn1 |
G |
A |
13: 118,111,901 (GRCm39) |
V622I |
unknown |
Het |
| Hipk4 |
A |
G |
7: 27,228,834 (GRCm39) |
D428G |
probably damaging |
Het |
| Hs3st1 |
T |
C |
5: 39,772,145 (GRCm39) |
Y166C |
probably damaging |
Het |
| Hsd17b3 |
A |
G |
13: 64,206,459 (GRCm39) |
F281S |
possibly damaging |
Het |
| Ifih1 |
T |
C |
2: 62,475,950 (GRCm39) |
T109A |
probably benign |
Het |
| Ighv1-64 |
T |
A |
12: 115,471,645 (GRCm39) |
|
probably benign |
Het |
| Ina |
T |
C |
19: 47,003,816 (GRCm39) |
L208P |
|
Het |
| Iqcn |
C |
T |
8: 71,161,794 (GRCm39) |
T329I |
possibly damaging |
Het |
| Irak2 |
T |
C |
6: 113,615,604 (GRCm39) |
|
probably null |
Het |
| Klhl10 |
G |
A |
11: 100,338,481 (GRCm39) |
E407K |
probably benign |
Het |
| Krt81 |
A |
G |
15: 101,361,335 (GRCm39) |
S82P |
probably damaging |
Het |
| Ktn1 |
C |
A |
14: 47,948,353 (GRCm39) |
Q963K |
probably benign |
Het |
| Lgalsl2 |
G |
A |
7: 5,362,527 (GRCm39) |
V53I |
possibly damaging |
Het |
| Lrrc42 |
A |
T |
4: 107,104,913 (GRCm39) |
Y17* |
probably null |
Het |
| Mak |
G |
A |
13: 41,202,839 (GRCm39) |
T203I |
probably benign |
Het |
| Masp2 |
T |
C |
4: 148,692,485 (GRCm39) |
V326A |
possibly damaging |
Het |
| Mdc1 |
T |
C |
17: 36,164,258 (GRCm39) |
S1269P |
probably benign |
Het |
| Mink1 |
G |
A |
11: 70,502,477 (GRCm39) |
V1027M |
probably damaging |
Het |
| Mrps10 |
C |
A |
17: 47,686,903 (GRCm39) |
S123* |
probably null |
Het |
| Myl10 |
C |
T |
5: 136,729,787 (GRCm39) |
H142Y |
probably damaging |
Het |
| Ncan |
T |
C |
8: 70,560,648 (GRCm39) |
Q773R |
possibly damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,434,141 (GRCm39) |
M68K |
probably damaging |
Het |
| Ntrk1 |
C |
T |
3: 87,698,745 (GRCm39) |
V99M |
possibly damaging |
Het |
| Odad3 |
T |
C |
9: 21,903,207 (GRCm39) |
E402G |
probably damaging |
Het |
| Or4p22 |
C |
T |
2: 88,317,787 (GRCm39) |
T237I |
probably damaging |
Het |
| Or5an1 |
A |
G |
19: 12,260,939 (GRCm39) |
R176G |
probably benign |
Het |
| Or8c8 |
A |
G |
9: 38,164,962 (GRCm39) |
K80R |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,595,437 (GRCm39) |
V830A |
probably damaging |
Het |
| Phospho2 |
T |
C |
2: 69,625,913 (GRCm39) |
V23A |
probably damaging |
Het |
| Plxnc1 |
G |
A |
10: 94,780,685 (GRCm39) |
|
probably benign |
Het |
| Ppcdc |
T |
C |
9: 57,342,280 (GRCm39) |
E14G |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,302,645 (GRCm39) |
Y106C |
probably damaging |
Het |
| Rgs22 |
T |
C |
15: 36,087,544 (GRCm39) |
Q582R |
probably benign |
Het |
| Rngtt |
T |
A |
4: 33,320,613 (GRCm39) |
Y53* |
probably null |
Het |
| Slc12a3 |
T |
G |
8: 95,083,028 (GRCm39) |
|
probably null |
Het |
| Slc26a11 |
A |
G |
11: 119,267,730 (GRCm39) |
T456A |
probably benign |
Het |
| Slc26a5 |
G |
T |
5: 22,018,334 (GRCm39) |
A677E |
possibly damaging |
Het |
| Smurf1 |
T |
C |
5: 144,817,463 (GRCm39) |
T690A |
probably benign |
Het |
| Spata24 |
A |
T |
18: 35,790,064 (GRCm39) |
N142K |
probably damaging |
Het |
| Ubqlnl |
A |
T |
7: 103,798,962 (GRCm39) |
N178K |
possibly damaging |
Het |
| Uggt2 |
A |
G |
14: 119,312,741 (GRCm39) |
|
probably null |
Het |
| Vmn1r2 |
C |
A |
4: 3,172,678 (GRCm39) |
A199D |
probably damaging |
Het |
| Vmn2r39 |
T |
C |
7: 9,030,684 (GRCm39) |
N128S |
probably damaging |
Het |
| Vmn2r61 |
G |
T |
7: 41,916,619 (GRCm39) |
V411F |
probably benign |
Het |
| Vmn2r-ps117 |
T |
A |
17: 19,042,911 (GRCm39) |
F106L |
probably benign |
Het |
| Zfp503 |
A |
T |
14: 22,035,353 (GRCm39) |
I521N |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,547,113 (GRCm39) |
V1432A |
probably benign |
Het |
| Zfp981 |
T |
A |
4: 146,619,884 (GRCm39) |
L13I |
possibly 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 |
|
|
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 |
|
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'- ATGCCACTGTTGCTAGCAC -3'
(R):5'- TGCACAGACACTGTTTGAAAAG -3'
Sequencing Primer
(F):5'- CCACTGTTGCTAGCACGTTAAGG -3'
(R):5'- CACAAACTATAAACTTCCCCTGG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation