Incidental Mutation 'IGL01484:Lrrc32'
| ID |
88851 |
| 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: 0.342)
|
| Stock # |
IGL01484
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
98138515-98151038 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98143442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 5
(I5T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165205]
[ENSMUST00000205937]
[ENSMUST00000205956]
|
| AlphaFold |
G3XA59 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165205
AA Change: I5T
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133205
Gene: ENSMUSG00000090958
AA Change: I5T
| 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: I5T
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205956
AA Change: I5T
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd36 |
A |
G |
11: 5,579,006 (GRCm39) |
H90R |
possibly damaging |
Het |
| Arsj |
A |
G |
3: 126,158,685 (GRCm39) |
D88G |
probably damaging |
Het |
| Clca4b |
C |
T |
3: 144,633,996 (GRCm39) |
V140I |
probably benign |
Het |
| Dagla |
A |
C |
19: 10,225,884 (GRCm39) |
L760R |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,021,897 (GRCm39) |
E1202G |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,487,164 (GRCm39) |
H100R |
probably damaging |
Het |
| Hhip |
T |
C |
8: 80,723,412 (GRCm39) |
H414R |
probably damaging |
Het |
| Hk2 |
G |
A |
6: 82,713,711 (GRCm39) |
T457M |
probably damaging |
Het |
| Iapp |
A |
G |
6: 142,249,165 (GRCm39) |
T73A |
possibly damaging |
Het |
| Ifit1 |
A |
G |
19: 34,626,243 (GRCm39) |
N460D |
probably damaging |
Het |
| Itpa |
T |
C |
2: 130,514,019 (GRCm39) |
F77L |
probably benign |
Het |
| Knop1 |
T |
C |
7: 118,452,032 (GRCm39) |
D229G |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,734,629 (GRCm39) |
V622M |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,571,400 (GRCm39) |
E866G |
probably damaging |
Het |
| Or2t48 |
A |
T |
11: 58,420,222 (GRCm39) |
W197R |
probably benign |
Het |
| Palmd |
G |
A |
3: 116,746,794 (GRCm39) |
|
probably benign |
Het |
| Pcbp4 |
A |
G |
9: 106,337,848 (GRCm39) |
|
probably null |
Het |
| Pigf |
T |
C |
17: 87,316,308 (GRCm39) |
I157V |
probably benign |
Het |
| Pot1b |
G |
A |
17: 56,002,160 (GRCm39) |
T138M |
possibly damaging |
Het |
| Prl7a2 |
T |
A |
13: 27,843,191 (GRCm39) |
D204V |
probably damaging |
Het |
| Rfc3 |
A |
T |
5: 151,566,401 (GRCm39) |
D349E |
probably benign |
Het |
| Sarm1 |
A |
T |
11: 78,381,839 (GRCm39) |
C215S |
probably damaging |
Het |
| Serpine1 |
T |
C |
5: 137,092,326 (GRCm39) |
|
probably benign |
Het |
| Strip1 |
A |
G |
3: 107,520,575 (GRCm39) |
V825A |
probably damaging |
Het |
| Stx12 |
A |
G |
4: 132,611,673 (GRCm39) |
S2P |
probably damaging |
Het |
| Sycp1 |
A |
C |
3: 102,823,183 (GRCm39) |
S311R |
probably benign |
Het |
| Tfpi |
A |
T |
2: 84,275,169 (GRCm39) |
C139* |
probably null |
Het |
| Tmc5 |
T |
A |
7: 118,256,010 (GRCm39) |
I695N |
probably damaging |
Het |
| Tmem169 |
T |
C |
1: 72,340,263 (GRCm39) |
V231A |
probably damaging |
Het |
| Ttbk2 |
T |
G |
2: 120,570,314 (GRCm39) |
S1211R |
possibly damaging |
Het |
| Ubr3 |
C |
T |
2: 69,851,888 (GRCm39) |
R1855* |
probably null |
Het |
| Urb1 |
A |
T |
16: 90,574,448 (GRCm39) |
S878T |
probably benign |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,749 (GRCm39) |
Y138* |
probably null |
Het |
| Zfp282 |
A |
G |
6: 47,867,054 (GRCm39) |
N214D |
possibly 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 |
|
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 |
|
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 |
2013-11-18 |
Incidental Mutation