Incidental Mutation 'IGL03191:Lrrc32'
ID |
412652 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrc32
|
Ensembl Gene |
ENSMUSG00000090958 |
Gene Name |
leucine rich repeat containing 32 |
Synonyms |
D7H11S833E, EG434215, D11S833Eh, Garp |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.295)
|
Stock # |
IGL03191
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
98138515-98151038 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98147454 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 78
(H78R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165205]
[ENSMUST00000205937]
[ENSMUST00000205956]
|
AlphaFold |
G3XA59 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000165205
AA Change: H78R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000133205 Gene: ENSMUSG00000090958 AA Change: H78R
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 |
possibly damaging
Transcript: ENSMUST00000205937
AA Change: H78R
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205956
AA Change: H78R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
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 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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
A |
G |
1: 58,398,228 (GRCm39) |
D1323G |
probably null |
Het |
Asxl2 |
A |
G |
12: 3,550,094 (GRCm39) |
D612G |
probably damaging |
Het |
Cacna1c |
A |
T |
6: 118,718,864 (GRCm39) |
F395L |
probably damaging |
Het |
Cct8 |
A |
G |
16: 87,283,198 (GRCm39) |
S380P |
probably damaging |
Het |
Cltb |
T |
C |
13: 54,746,883 (GRCm39) |
E31G |
probably damaging |
Het |
Cobl |
T |
C |
11: 12,203,364 (GRCm39) |
M1031V |
probably benign |
Het |
Colgalt1 |
C |
A |
8: 72,075,731 (GRCm39) |
|
probably null |
Het |
Dcstamp |
A |
G |
15: 39,617,620 (GRCm39) |
I10V |
probably benign |
Het |
Diaph3 |
T |
C |
14: 87,310,738 (GRCm39) |
I138V |
possibly damaging |
Het |
Dnah8 |
T |
C |
17: 30,945,804 (GRCm39) |
V1827A |
probably damaging |
Het |
Dpf1 |
T |
A |
7: 29,015,986 (GRCm39) |
|
probably benign |
Het |
Dscam |
A |
T |
16: 96,621,969 (GRCm39) |
L494Q |
probably benign |
Het |
Eif2ak4 |
C |
T |
2: 118,252,693 (GRCm39) |
H422Y |
probably damaging |
Het |
Galnt10 |
T |
C |
11: 57,662,326 (GRCm39) |
V324A |
probably damaging |
Het |
Hcfc1 |
T |
C |
X: 72,999,220 (GRCm39) |
I309V |
probably benign |
Het |
Il24 |
T |
C |
1: 130,812,584 (GRCm39) |
T96A |
probably benign |
Het |
Itga2 |
T |
C |
13: 114,973,020 (GRCm39) |
|
probably benign |
Het |
Lrrk1 |
T |
C |
7: 65,909,707 (GRCm39) |
E2001G |
probably damaging |
Het |
Lztr1 |
T |
A |
16: 17,336,392 (GRCm39) |
M199K |
probably damaging |
Het |
Mcm8 |
A |
G |
2: 132,663,362 (GRCm39) |
Y160C |
possibly damaging |
Het |
Msh4 |
G |
A |
3: 153,575,245 (GRCm39) |
T710M |
probably damaging |
Het |
Pate8 |
T |
C |
9: 36,492,698 (GRCm39) |
D69G |
probably benign |
Het |
Pilrb1 |
A |
T |
5: 137,853,227 (GRCm39) |
L192Q |
probably damaging |
Het |
Pim1 |
T |
A |
17: 29,712,693 (GRCm39) |
|
probably benign |
Het |
Slc12a1 |
A |
T |
2: 125,048,009 (GRCm39) |
Q817L |
possibly damaging |
Het |
Trip11 |
T |
C |
12: 101,865,184 (GRCm39) |
D163G |
probably damaging |
Het |
Tsc2 |
A |
T |
17: 24,847,028 (GRCm39) |
V179E |
probably damaging |
Het |
Zfp641 |
C |
T |
15: 98,186,568 (GRCm39) |
V352M |
probably damaging |
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 |
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 |
R6742:Lrrc32
|
UTSW |
7 |
98,148,039 (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 |
|
Posted On |
2016-08-02 |