Incidental Mutation 'R2879:Lrrc32'
| ID |
260229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc32
|
| Ensembl Gene |
ENSMUSG00000090958 |
| Gene Name |
leucine rich repeat containing 32 |
| Synonyms |
D7H11S833E, EG434215, D11S833Eh, Garp |
| MMRRC Submission |
040467-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.295)
|
| Stock # |
R2879 (G1)
|
| Quality Score |
200 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
98138515-98151038 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98148984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 588
(Q588R)
|
| 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: Q588R
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000133205
Gene: ENSMUSG00000090958
AA Change: Q588R
| 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: Q588R
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
| Acte1 |
T |
A |
7: 143,447,800 (GRCm39) |
Y214* |
probably null |
Het |
| Akap9 |
A |
G |
5: 4,026,353 (GRCm39) |
|
probably benign |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Ano6 |
T |
A |
15: 95,841,308 (GRCm39) |
C468* |
probably null |
Het |
| Arhgef10l |
G |
T |
4: 140,242,598 (GRCm39) |
H890Q |
probably benign |
Het |
| Ccnj |
T |
A |
19: 40,833,158 (GRCm39) |
L112Q |
probably damaging |
Het |
| Chaf1a |
T |
C |
17: 56,351,114 (GRCm39) |
|
probably null |
Het |
| Chchd4 |
A |
G |
6: 91,442,200 (GRCm39) |
S73P |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,254,924 (GRCm39) |
K139E |
possibly damaging |
Het |
| Cyp2b13 |
T |
G |
7: 25,785,456 (GRCm39) |
|
probably null |
Het |
| Dagla |
T |
C |
19: 10,248,448 (GRCm39) |
I71V |
possibly damaging |
Het |
| Epor |
A |
T |
9: 21,870,936 (GRCm39) |
W315R |
probably damaging |
Het |
| Etv1 |
T |
A |
12: 38,833,809 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
A |
T |
18: 58,202,314 (GRCm39) |
C1280S |
probably damaging |
Het |
| Fbxo2 |
G |
C |
4: 148,250,468 (GRCm39) |
R269P |
probably damaging |
Het |
| Fer1l4 |
A |
T |
2: 155,894,120 (GRCm39) |
L61Q |
probably damaging |
Het |
| Ggnbp2 |
C |
T |
11: 84,723,797 (GRCm39) |
|
probably null |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Ibsp |
G |
A |
5: 104,458,260 (GRCm39) |
E266K |
possibly damaging |
Het |
| Lamb3 |
T |
A |
1: 193,013,092 (GRCm39) |
M439K |
possibly damaging |
Het |
| Lnx1 |
C |
T |
5: 74,780,784 (GRCm39) |
V246M |
probably benign |
Het |
| Magi2 |
A |
AG |
5: 20,807,459 (GRCm39) |
|
probably null |
Het |
| Med13 |
C |
T |
11: 86,189,988 (GRCm39) |
A974T |
possibly damaging |
Het |
| Mogat2 |
A |
T |
7: 98,871,573 (GRCm39) |
I246N |
possibly damaging |
Het |
| Myl2 |
T |
C |
5: 122,242,748 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or1p1c |
T |
A |
11: 74,161,049 (GRCm39) |
V278D |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,225,029 (GRCm39) |
Y145H |
probably benign |
Het |
| Plg |
A |
G |
17: 12,622,987 (GRCm39) |
E509G |
possibly damaging |
Het |
| Pnkp |
T |
A |
7: 44,508,102 (GRCm39) |
S142T |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 52,048,936 (GRCm39) |
|
probably null |
Het |
| Sbno1 |
A |
G |
5: 124,526,635 (GRCm39) |
M960T |
probably damaging |
Het |
| Smad1 |
T |
C |
8: 80,080,084 (GRCm39) |
|
probably null |
Het |
| Ssc5d |
G |
A |
7: 4,939,906 (GRCm39) |
|
probably null |
Het |
| Tfcp2 |
C |
T |
15: 100,449,201 (GRCm39) |
|
probably null |
Het |
| Tmem121 |
A |
G |
12: 113,152,028 (GRCm39) |
Y82C |
probably damaging |
Het |
| Tmem131 |
T |
C |
1: 36,880,788 (GRCm39) |
I161V |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 44,010,783 (GRCm39) |
F523L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,601,849 (GRCm39) |
|
silent |
Het |
| Ttpal |
A |
G |
2: 163,457,503 (GRCm39) |
|
probably null |
Het |
| Vdr |
T |
A |
15: 97,757,008 (GRCm39) |
Y288F |
probably benign |
Het |
| Wipf2 |
C |
T |
11: 98,783,480 (GRCm39) |
A302V |
probably benign |
Het |
| Zfp346 |
T |
G |
13: 55,253,163 (GRCm39) |
C3G |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACCAGTTAAGCCACCTGC -3'
(R):5'- CTGAGTAACCTGAGTTGGACCC -3'
Sequencing Primer
(F):5'- TAAGCCACCTGCCCGCTTG -3'
(R):5'- AGCAGATGGTGGCCAGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation