Incidental Mutation 'IGL02230:Lrrc4'
| ID |
285656 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc4
|
| Ensembl Gene |
ENSMUSG00000049939 |
| Gene Name |
leucine rich repeat containing 4 |
| Synonyms |
Nag14, NGL-2, NGL2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
IGL02230
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
28828125-28831746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 28830879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 245
(K245N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062158
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001460]
[ENSMUST00000062304]
[ENSMUST00000164915]
[ENSMUST00000167201]
[ENSMUST00000171353]
|
| AlphaFold |
Q99PH1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001460
|
| SMART Domains |
Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
SNc
|
18 |
166 |
7.12e-54 |
SMART |
|
SNc
|
193 |
328 |
8.37e-51 |
SMART |
|
SNc
|
341 |
496 |
4.11e-59 |
SMART |
|
SNc
|
525 |
660 |
3.82e-45 |
SMART |
|
TUDOR
|
728 |
785 |
4.8e-19 |
SMART |
|
Pfam:SNase
|
835 |
895 |
1.3e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062304
AA Change: K245N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000062158
Gene: ENSMUSG00000049939
AA Change: K245N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
40 |
N/A |
INTRINSIC |
|
LRRNT
|
44 |
78 |
4.05e-5 |
SMART |
|
LRR
|
72 |
96 |
1.19e2 |
SMART |
|
LRR_TYP
|
97 |
120 |
2.24e-3 |
SMART |
|
LRR
|
121 |
144 |
6.13e-1 |
SMART |
|
LRR_TYP
|
145 |
168 |
5.99e-4 |
SMART |
|
LRR
|
216 |
239 |
1.25e-1 |
SMART |
|
LRR
|
240 |
263 |
4.71e1 |
SMART |
|
LRR_TYP
|
264 |
287 |
2.79e-4 |
SMART |
|
LRRCT
|
299 |
350 |
8.06e-6 |
SMART |
|
IGc2
|
364 |
430 |
5.24e-7 |
SMART |
|
low complexity region
|
452 |
462 |
N/A |
INTRINSIC |
|
transmembrane domain
|
527 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
586 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164915
|
| SMART Domains |
Protein: ENSMUSP00000127317
Gene: ENSMUSG00000001424
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
SNc
|
18 |
142 |
1.56e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167201
|
| SMART Domains |
Protein: ENSMUSP00000128737
Gene: ENSMUSG00000001424
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
SNc
|
18 |
166 |
7.12e-54 |
SMART |
|
SNc
|
193 |
328 |
8.37e-51 |
SMART |
|
SNc
|
341 |
496 |
4.11e-59 |
SMART |
|
SCOP:d1sty__
|
526 |
592 |
1e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169579
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171195
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171353
|
| SMART Domains |
Protein: ENSMUSP00000129497
Gene: ENSMUSG00000049939
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is significantly downregulated in primary brain tumors. The exact function of the protein encoded by this gene is unknown. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit hyperactivity, an absence of startle reflex, and abnormal ABR amplitude. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,218,604 (GRCm39) |
T727S |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,291,193 (GRCm39) |
I374F |
probably damaging |
Het |
| Ecel1 |
T |
C |
1: 87,079,916 (GRCm39) |
N399S |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,190 (GRCm39) |
E317G |
probably damaging |
Het |
| Gm10030 |
T |
A |
9: 110,835,458 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4884 |
A |
T |
7: 40,692,829 (GRCm39) |
Q266L |
probably damaging |
Het |
| Gpr45 |
C |
A |
1: 43,071,816 (GRCm39) |
A153E |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,903,682 (GRCm39) |
F991L |
probably benign |
Het |
| Hif1a |
T |
G |
12: 73,979,224 (GRCm39) |
D249E |
probably damaging |
Het |
| Hsd17b12 |
A |
G |
2: 93,875,743 (GRCm39) |
L194P |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,245,956 (GRCm39) |
S947P |
probably damaging |
Het |
| Kng1 |
G |
T |
16: 22,879,244 (GRCm39) |
|
probably null |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Mdga2 |
G |
A |
12: 66,702,197 (GRCm39) |
R335* |
probably null |
Het |
| Naa16 |
A |
T |
14: 79,614,801 (GRCm39) |
|
probably benign |
Het |
| Ncbp1 |
C |
A |
4: 46,165,272 (GRCm39) |
N528K |
probably benign |
Het |
| Or10a2 |
A |
G |
7: 106,673,700 (GRCm39) |
I222V |
probably damaging |
Het |
| Or7a41 |
T |
A |
10: 78,870,876 (GRCm39) |
M82K |
probably damaging |
Het |
| Pipox |
A |
G |
11: 77,772,032 (GRCm39) |
L364P |
probably damaging |
Het |
| R3hdm4 |
C |
A |
10: 79,747,925 (GRCm39) |
A206S |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,136,145 (GRCm39) |
I589T |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sdr16c5 |
T |
C |
4: 4,016,354 (GRCm39) |
E24G |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,599,861 (GRCm39) |
I815V |
possibly damaging |
Het |
| Serpina16 |
A |
G |
12: 103,641,561 (GRCm39) |
Y55H |
probably damaging |
Het |
| Sirt2 |
C |
T |
7: 28,478,371 (GRCm39) |
R83C |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,752,195 (GRCm39) |
|
probably null |
Het |
| Stmn1 |
A |
G |
4: 134,200,224 (GRCm39) |
E99G |
probably damaging |
Het |
| Tas2r103 |
T |
C |
6: 133,014,019 (GRCm39) |
I16V |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,927,056 (GRCm39) |
K334E |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,417,233 (GRCm39) |
I876T |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,807,591 (GRCm39) |
V289D |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Lrrc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03223:Lrrc4
|
APN |
6 |
28,831,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03410:Lrrc4
|
APN |
6 |
28,830,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Lrrc4
|
UTSW |
6 |
28,829,734 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0233:Lrrc4
|
UTSW |
6 |
28,829,734 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0456:Lrrc4
|
UTSW |
6 |
28,831,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1162:Lrrc4
|
UTSW |
6 |
28,831,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2001:Lrrc4
|
UTSW |
6 |
28,830,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2089:Lrrc4
|
UTSW |
6 |
28,830,586 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2091:Lrrc4
|
UTSW |
6 |
28,830,586 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2091:Lrrc4
|
UTSW |
6 |
28,830,586 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2353:Lrrc4
|
UTSW |
6 |
28,831,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5079:Lrrc4
|
UTSW |
6 |
28,830,769 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5197:Lrrc4
|
UTSW |
6 |
28,830,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6701:Lrrc4
|
UTSW |
6 |
28,830,905 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6755:Lrrc4
|
UTSW |
6 |
28,831,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7660:Lrrc4
|
UTSW |
6 |
28,829,816 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7661:Lrrc4
|
UTSW |
6 |
28,829,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8113:Lrrc4
|
UTSW |
6 |
28,829,902 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8272:Lrrc4
|
UTSW |
6 |
28,662,192 (GRCm39) |
missense |
unknown |
|
|
R9074:Lrrc4
|
UTSW |
6 |
28,831,595 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9094:Lrrc4
|
UTSW |
6 |
28,830,206 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9197:Lrrc4
|
UTSW |
6 |
28,831,318 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9447:Lrrc4
|
UTSW |
6 |
28,830,650 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9803:Lrrc4
|
UTSW |
6 |
28,662,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation