Incidental Mutation 'R7713:Lrrc32'
| ID |
594731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc32
|
| Ensembl Gene |
ENSMUSG00000090958 |
| Gene Name |
leucine rich repeat containing 32 |
| Synonyms |
D7H11S833E, EG434215, D11S833Eh, Garp |
| MMRRC Submission |
045771-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.342)
|
| Stock # |
R7713 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
98138515-98151038 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 98148545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 442
(G442W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165205]
[ENSMUST00000205937]
[ENSMUST00000205956]
|
| AlphaFold |
G3XA59 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165205
AA Change: G442W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133205
Gene: ENSMUSG00000090958
AA Change: G442W
| 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 damaging
Transcript: ENSMUST00000205956
AA Change: G442W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,066,173 (GRCm39) |
S119P |
possibly damaging |
Het |
| Agtpbp1 |
T |
A |
13: 59,661,966 (GRCm39) |
I282F |
probably damaging |
Het |
| Armh1 |
A |
T |
4: 117,071,425 (GRCm39) |
M355K |
possibly damaging |
Het |
| Cep128 |
A |
T |
12: 90,986,096 (GRCm39) |
D1013E |
probably benign |
Het |
| Clock |
A |
T |
5: 76,393,267 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
T |
G |
13: 113,483,075 (GRCm39) |
V1559G |
|
Het |
| D630003M21Rik |
G |
A |
2: 158,058,698 (GRCm39) |
Q401* |
probably null |
Het |
| Dnah17 |
C |
A |
11: 117,915,997 (GRCm39) |
V4302L |
probably benign |
Het |
| Drc3 |
A |
G |
11: 60,261,386 (GRCm39) |
Y179C |
probably benign |
Het |
| Erbb3 |
T |
C |
10: 128,410,318 (GRCm39) |
T647A |
probably benign |
Het |
| Esrp2 |
T |
C |
8: 106,860,908 (GRCm39) |
T205A |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,874,872 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
C |
T |
2: 113,356,159 (GRCm39) |
P965S |
unknown |
Het |
| Fndc7 |
C |
T |
3: 108,777,979 (GRCm39) |
V412M |
possibly damaging |
Het |
| G2e3 |
C |
A |
12: 51,415,839 (GRCm39) |
A525E |
probably damaging |
Het |
| Gcfc2 |
C |
T |
6: 81,918,371 (GRCm39) |
R354C |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,421,508 (GRCm39) |
N510K |
probably damaging |
Het |
| Gnas |
C |
T |
2: 174,140,820 (GRCm39) |
T389I |
unknown |
Het |
| Hapln3 |
C |
T |
7: 78,767,121 (GRCm39) |
R306H |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,320,444 (GRCm39) |
L4496P |
possibly damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,867,952 (GRCm39) |
I219L |
probably benign |
Het |
| Kcnj2 |
T |
C |
11: 110,963,309 (GRCm39) |
S234P |
probably benign |
Het |
| Lipf |
T |
A |
19: 33,950,465 (GRCm39) |
S286T |
probably damaging |
Het |
| Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
| Mtmr4 |
T |
C |
11: 87,488,550 (GRCm39) |
V68A |
probably damaging |
Het |
| Mug2 |
T |
C |
6: 122,055,754 (GRCm39) |
S1146P |
possibly damaging |
Het |
| Naa35 |
T |
C |
13: 59,745,919 (GRCm39) |
I75T |
probably benign |
Het |
| Nepn |
T |
A |
10: 52,277,274 (GRCm39) |
F337I |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,316,432 (GRCm39) |
M496V |
probably benign |
Het |
| Nthl1 |
A |
T |
17: 24,857,631 (GRCm39) |
I277F |
possibly damaging |
Het |
| Or10a3 |
A |
C |
7: 108,479,889 (GRCm39) |
I308S |
probably damaging |
Het |
| Or4p8 |
T |
C |
2: 88,728,122 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
T |
12: 9,629,253 (GRCm39) |
Y42F |
probably damaging |
Het |
| Rad54l2 |
G |
A |
9: 106,594,422 (GRCm39) |
R369W |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,465,691 (GRCm39) |
T4828S |
probably benign |
Het |
| Slc25a54 |
T |
A |
3: 109,010,133 (GRCm39) |
C211S |
probably damaging |
Het |
| Ube4b |
C |
T |
4: 149,483,238 (GRCm39) |
R10Q |
possibly damaging |
Het |
| Usp9y |
G |
A |
Y: 1,304,411 (GRCm39) |
Q2440* |
probably null |
Het |
| Yars1 |
G |
T |
4: 129,104,291 (GRCm39) |
V312L |
probably benign |
Het |
| Zfp26 |
G |
A |
9: 20,352,630 (GRCm39) |
T145I |
probably benign |
Het |
| Zic5 |
T |
C |
14: 122,701,525 (GRCm39) |
N402S |
unknown |
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 |
|
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 |
|
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'- TGGACTTGAGCCACAATGTGC -3'
(R):5'- TTGCCTTGAAGCTCCAGTACC -3'
Sequencing Primer
(F):5'- CTTGAGCCACAATGTGCTGGAAG -3'
(R):5'- TGAAGCTCCAGTACCTCTAAGGATG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation