Incidental Mutation 'R3608:Lrrc32'
| ID |
269159 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3608 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
98138515-98151038 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 98148393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 391
(T391M)
|
| 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: T391M
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000133205
Gene: ENSMUSG00000090958
AA Change: T391M
| 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: T391M
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.1%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B3gnt4 |
C |
A |
5: 123,648,838 (GRCm39) |
R68S |
probably damaging |
Het |
| Brf1 |
A |
G |
12: 112,924,894 (GRCm39) |
L610P |
probably benign |
Het |
| Cacna1e |
T |
A |
1: 154,291,831 (GRCm39) |
R1783S |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| CK137956 |
A |
T |
4: 127,845,119 (GRCm39) |
I208N |
probably damaging |
Het |
| Col17a1 |
G |
A |
19: 47,668,844 (GRCm39) |
L127F |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dlgap4 |
C |
T |
2: 156,590,332 (GRCm39) |
|
probably benign |
Het |
| Ect2l |
A |
T |
10: 18,018,688 (GRCm39) |
N619K |
possibly damaging |
Het |
| Hamp2 |
T |
C |
7: 30,623,539 (GRCm39) |
T8A |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,337,909 (GRCm39) |
N407K |
probably damaging |
Het |
| Mroh2a |
G |
T |
1: 88,172,717 (GRCm39) |
A829S |
probably damaging |
Het |
| Ncoa1 |
T |
C |
12: 4,328,186 (GRCm39) |
N884S |
probably benign |
Het |
| Neil1 |
T |
C |
9: 57,051,485 (GRCm39) |
T278A |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,614,840 (GRCm39) |
T204A |
probably benign |
Het |
| Psmc3 |
T |
A |
2: 90,884,925 (GRCm39) |
D30E |
probably benign |
Het |
| Rtkn |
T |
A |
6: 83,127,016 (GRCm39) |
C328S |
probably damaging |
Het |
| Speer4f2 |
C |
A |
5: 17,579,492 (GRCm39) |
T97K |
probably benign |
Het |
| Srd5a2 |
A |
G |
17: 74,334,026 (GRCm39) |
V131A |
probably benign |
Het |
| Tm9sf4 |
A |
G |
2: 153,020,897 (GRCm39) |
H35R |
probably benign |
Het |
| Ubr2 |
G |
T |
17: 47,255,449 (GRCm39) |
D1412E |
probably damaging |
Het |
| Vmn2r95 |
G |
A |
17: 18,660,235 (GRCm39) |
V216I |
possibly damaging |
Het |
| Ypel1 |
A |
T |
16: 16,910,154 (GRCm39) |
C126* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAGATCGAACTGGTCCCTG -3'
(R):5'- GAGCATTCCCATCGAGTTCC -3'
Sequencing Primer
(F):5'- ATCGAACTGGTCCCTGCTAGC -3'
(R):5'- GAGTTCCCTGCCATGTTAAGAAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation