Incidental Mutation 'R6742:Lrrc32'
ID |
530489 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc32
|
Ensembl Gene |
ENSMUSG00000090958 |
Gene Name |
leucine rich repeat containing 32 |
Synonyms |
D7H11S833E, EG434215, D11S833Eh, Garp |
MMRRC Submission |
044859-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.295)
|
Stock # |
R6742 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
98138515-98151038 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98148039 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 273
(V273A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145859
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165205]
[ENSMUST00000205937]
[ENSMUST00000205956]
|
AlphaFold |
G3XA59 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000165205
AA Change: V273A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000133205 Gene: ENSMUSG00000090958 AA Change: V273A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Blast:LRRNT
|
22 |
54 |
3e-12 |
BLAST |
LRR_TYP
|
73 |
96 |
9.44e-2 |
SMART |
LRR
|
97 |
123 |
1.86e2 |
SMART |
LRR
|
124 |
148 |
3.01e2 |
SMART |
LRR
|
149 |
172 |
5.41e0 |
SMART |
LRR
|
173 |
196 |
1.51e0 |
SMART |
LRR_TYP
|
197 |
220 |
7.67e-2 |
SMART |
LRR
|
265 |
287 |
1.49e2 |
SMART |
LRR
|
315 |
338 |
4.97e0 |
SMART |
LRR
|
339 |
362 |
8.01e0 |
SMART |
LRR
|
363 |
384 |
5.57e1 |
SMART |
LRR_TYP
|
386 |
409 |
3.44e-4 |
SMART |
low complexity region
|
425 |
437 |
N/A |
INTRINSIC |
LRR
|
443 |
466 |
2.33e2 |
SMART |
LRR
|
514 |
536 |
2.03e1 |
SMART |
LRR
|
537 |
559 |
2.61e1 |
SMART |
Blast:LRR
|
561 |
588 |
6e-11 |
BLAST |
transmembrane domain
|
630 |
652 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205937
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205956
AA Change: V273A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (46/46) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a conditional allele activated in T cells exhibit reduced regulatory T cell ability to drive Th17 differentiation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,654,995 (GRCm39) |
R1440G |
probably benign |
Het |
Abca13 |
T |
A |
11: 9,278,168 (GRCm39) |
L3116Q |
probably damaging |
Het |
Adgb |
G |
A |
10: 10,287,593 (GRCm39) |
H55Y |
probably damaging |
Het |
AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
Ank3 |
T |
C |
10: 69,827,412 (GRCm39) |
|
probably benign |
Het |
Ccdc127 |
G |
T |
13: 74,501,042 (GRCm39) |
G20W |
probably damaging |
Het |
Ccdc149 |
G |
A |
5: 52,562,475 (GRCm39) |
Q184* |
probably null |
Het |
Cntrob |
G |
A |
11: 69,213,749 (GRCm39) |
P14S |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,077,629 (GRCm39) |
E1288G |
possibly damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,113,640 (GRCm39) |
D1350G |
possibly damaging |
Het |
Fasn |
T |
C |
11: 120,701,279 (GRCm39) |
T1990A |
probably damaging |
Het |
Itga2 |
T |
A |
13: 114,973,061 (GRCm39) |
N1166I |
possibly damaging |
Het |
Lmtk2 |
T |
A |
5: 144,085,175 (GRCm39) |
C216S |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,361,132 (GRCm39) |
D557G |
probably benign |
Het |
Nlrp4f |
C |
T |
13: 65,335,254 (GRCm39) |
|
probably null |
Het |
Ntng2 |
T |
G |
2: 29,090,940 (GRCm39) |
M360L |
probably benign |
Het |
Pik3c2b |
A |
G |
1: 133,003,559 (GRCm39) |
S504G |
probably benign |
Het |
Ppfia4 |
A |
C |
1: 134,256,909 (GRCm39) |
L104R |
probably damaging |
Het |
Raph1 |
A |
G |
1: 60,564,879 (GRCm39) |
S203P |
probably damaging |
Het |
Rbl1 |
G |
A |
2: 157,011,918 (GRCm39) |
T679I |
probably benign |
Het |
Rnase4 |
G |
T |
14: 51,342,486 (GRCm39) |
R70L |
probably benign |
Het |
Rnf146 |
A |
C |
10: 29,223,528 (GRCm39) |
D119E |
probably damaging |
Het |
Rrp1b |
A |
G |
17: 32,275,908 (GRCm39) |
H485R |
probably benign |
Het |
Rwdd4a |
T |
A |
8: 48,000,998 (GRCm39) |
|
probably null |
Het |
Scarf2 |
G |
A |
16: 17,624,351 (GRCm39) |
C552Y |
probably damaging |
Het |
Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
Sox10 |
T |
C |
15: 79,040,676 (GRCm39) |
N127S |
probably damaging |
Het |
Speer4a1 |
A |
T |
5: 26,241,054 (GRCm39) |
|
probably null |
Het |
Tars1 |
A |
T |
15: 11,394,427 (GRCm39) |
I70N |
probably damaging |
Het |
Thsd7a |
C |
T |
6: 12,408,815 (GRCm39) |
V736M |
probably damaging |
Het |
Timp3 |
G |
A |
10: 86,136,742 (GRCm39) |
V9M |
probably benign |
Het |
Tnfrsf1a |
A |
T |
6: 125,333,911 (GRCm39) |
N55Y |
probably damaging |
Het |
Trim43a |
G |
A |
9: 88,470,399 (GRCm39) |
V402I |
possibly damaging |
Het |
Tshz2 |
A |
G |
2: 169,725,677 (GRCm39) |
D91G |
probably damaging |
Het |
Ubac1 |
T |
C |
2: 25,895,418 (GRCm39) |
D345G |
possibly damaging |
Het |
Usp4 |
G |
A |
9: 108,251,438 (GRCm39) |
V538I |
possibly damaging |
Het |
Vmn2r19 |
A |
T |
6: 123,306,917 (GRCm39) |
Y475F |
possibly damaging |
Het |
Vmn2r87 |
A |
T |
10: 130,308,396 (GRCm39) |
V614E |
probably damaging |
Het |
Wfdc2 |
A |
T |
2: 164,404,706 (GRCm39) |
T21S |
probably benign |
Het |
Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
Zfp78 |
A |
G |
7: 6,381,277 (GRCm39) |
E109G |
probably damaging |
Het |
Zfp873 |
C |
A |
10: 81,894,256 (GRCm39) |
A19D |
probably damaging |
Het |
Zfp935 |
T |
A |
13: 62,602,293 (GRCm39) |
K302N |
probably damaging |
Het |
Zfpm2 |
G |
A |
15: 40,965,114 (GRCm39) |
S401N |
probably benign |
Het |
|
Other mutations in Lrrc32 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01447:Lrrc32
|
APN |
7 |
98,147,583 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01484:Lrrc32
|
APN |
7 |
98,143,442 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01608:Lrrc32
|
APN |
7 |
98,148,564 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02025:Lrrc32
|
APN |
7 |
98,148,767 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02026:Lrrc32
|
APN |
7 |
98,148,767 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03061:Lrrc32
|
APN |
7 |
98,148,629 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03191:Lrrc32
|
APN |
7 |
98,147,454 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0706:Lrrc32
|
UTSW |
7 |
98,148,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R0947:Lrrc32
|
UTSW |
7 |
98,148,090 (GRCm39) |
missense |
probably benign |
|
R1470:Lrrc32
|
UTSW |
7 |
98,148,564 (GRCm39) |
missense |
probably benign |
|
R1470:Lrrc32
|
UTSW |
7 |
98,148,564 (GRCm39) |
missense |
probably benign |
|
R2879:Lrrc32
|
UTSW |
7 |
98,148,984 (GRCm39) |
missense |
probably benign |
0.02 |
R3608:Lrrc32
|
UTSW |
7 |
98,148,393 (GRCm39) |
missense |
probably benign |
0.09 |
R4417:Lrrc32
|
UTSW |
7 |
98,148,144 (GRCm39) |
missense |
probably benign |
0.01 |
R4798:Lrrc32
|
UTSW |
7 |
98,148,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R4872:Lrrc32
|
UTSW |
7 |
98,147,727 (GRCm39) |
missense |
probably damaging |
0.99 |
R5813:Lrrc32
|
UTSW |
7 |
98,147,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R6062:Lrrc32
|
UTSW |
7 |
98,147,748 (GRCm39) |
missense |
probably benign |
0.00 |
R6930:Lrrc32
|
UTSW |
7 |
98,148,471 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7265:Lrrc32
|
UTSW |
7 |
98,148,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R7367:Lrrc32
|
UTSW |
7 |
98,148,086 (GRCm39) |
nonsense |
probably null |
|
R7372:Lrrc32
|
UTSW |
7 |
98,149,014 (GRCm39) |
missense |
probably benign |
0.28 |
R7414:Lrrc32
|
UTSW |
7 |
98,149,201 (GRCm39) |
missense |
probably benign |
0.01 |
R7485:Lrrc32
|
UTSW |
7 |
98,147,414 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7679:Lrrc32
|
UTSW |
7 |
98,148,894 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7713:Lrrc32
|
UTSW |
7 |
98,148,545 (GRCm39) |
missense |
probably damaging |
0.99 |
R8782:Lrrc32
|
UTSW |
7 |
98,148,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R8815:Lrrc32
|
UTSW |
7 |
98,148,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R9190:Lrrc32
|
UTSW |
7 |
98,148,234 (GRCm39) |
missense |
probably benign |
0.00 |
R9258:Lrrc32
|
UTSW |
7 |
98,148,345 (GRCm39) |
missense |
probably benign |
0.02 |
R9367:Lrrc32
|
UTSW |
7 |
98,148,937 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Lrrc32
|
UTSW |
7 |
98,148,267 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- GCATCTCAGACTTCAGCCTC -3'
(R):5'- TCTGCTGAGGTTGAGGAAGC -3'
Sequencing Primer
(F):5'- TCCAGCAGCTGCAGGTACTAG -3'
(R):5'- TAGCAGGGACCAGTTCGATCTC -3'
|
Posted On |
2018-08-01 |