Incidental Mutation 'R6684:Orai3'
| ID |
527615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Orai3
|
| Ensembl Gene |
ENSMUSG00000043964 |
| Gene Name |
ORAI calcium release-activated calcium modulator 3 |
| Synonyms |
Tmem142c |
| MMRRC Submission |
044803-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R6684 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127368987-127374322 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127372892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 131
(N131S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033081]
[ENSMUST00000047075]
[ENSMUST00000047157]
[ENSMUST00000061587]
[ENSMUST00000118865]
[ENSMUST00000121504]
[ENSMUST00000126761]
[ENSMUST00000144406]
[ENSMUST00000188580]
[ENSMUST00000206893]
[ENSMUST00000186116]
[ENSMUST00000143951]
[ENSMUST00000186207]
|
| AlphaFold |
Q6P8G8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033081
|
| SMART Domains |
Protein: ENSMUSP00000033081
Gene: ENSMUSG00000030811
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CXXC
|
11 |
57 |
1.7e-16 |
PFAM |
|
PHD
|
67 |
129 |
4e-4 |
SMART |
|
low complexity region
|
166 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
377 |
N/A |
INTRINSIC |
|
FBOX
|
404 |
444 |
4.6e-4 |
SMART |
|
low complexity region
|
509 |
520 |
N/A |
INTRINSIC |
|
LRR
|
576 |
601 |
3.58e1 |
SMART |
|
LRR
|
631 |
656 |
1.28e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047075
|
| SMART Domains |
Protein: ENSMUSP00000047672
Gene: ENSMUSG00000042308
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
95 |
168 |
7.6e-6 |
SMART |
|
low complexity region
|
209 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
487 |
N/A |
INTRINSIC |
|
Blast:SET
|
488 |
976 |
N/A |
BLAST |
|
low complexity region
|
977 |
1007 |
N/A |
INTRINSIC |
|
low complexity region
|
1015 |
1079 |
N/A |
INTRINSIC |
|
low complexity region
|
1087 |
1098 |
N/A |
INTRINSIC |
|
low complexity region
|
1122 |
1152 |
N/A |
INTRINSIC |
|
low complexity region
|
1157 |
1173 |
N/A |
INTRINSIC |
|
Blast:SET
|
1193 |
1310 |
2e-24 |
BLAST |
|
low complexity region
|
1311 |
1368 |
N/A |
INTRINSIC |
|
low complexity region
|
1369 |
1396 |
N/A |
INTRINSIC |
|
N-SET
|
1428 |
1567 |
6.75e-64 |
SMART |
|
SET
|
1577 |
1700 |
3.22e-35 |
SMART |
|
PostSET
|
1700 |
1716 |
1.16e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047157
|
| SMART Domains |
Protein: ENSMUSP00000037600
Gene: ENSMUSG00000042308
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
95 |
168 |
7.6e-6 |
SMART |
|
low complexity region
|
209 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
487 |
N/A |
INTRINSIC |
|
Blast:SET
|
488 |
976 |
N/A |
BLAST |
|
low complexity region
|
977 |
1007 |
N/A |
INTRINSIC |
|
low complexity region
|
1015 |
1079 |
N/A |
INTRINSIC |
|
low complexity region
|
1087 |
1098 |
N/A |
INTRINSIC |
|
low complexity region
|
1122 |
1152 |
N/A |
INTRINSIC |
|
low complexity region
|
1157 |
1173 |
N/A |
INTRINSIC |
|
Blast:SET
|
1193 |
1310 |
2e-24 |
BLAST |
|
low complexity region
|
1311 |
1368 |
N/A |
INTRINSIC |
|
low complexity region
|
1369 |
1396 |
N/A |
INTRINSIC |
|
N-SET
|
1428 |
1567 |
6.75e-64 |
SMART |
|
SET
|
1577 |
1700 |
3.22e-35 |
SMART |
|
PostSET
|
1700 |
1716 |
1.16e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061587
AA Change: N131S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000050279
Gene: ENSMUSG00000043964
AA Change: N131S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Orai-1
|
46 |
271 |
1.3e-70 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118865
AA Change: N131S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112382
Gene: ENSMUSG00000043964
AA Change: N131S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Orai-1
|
42 |
165 |
1.5e-62 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121504
|
| SMART Domains |
Protein: ENSMUSP00000113142
Gene: ENSMUSG00000043964
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Orai-1
|
42 |
94 |
1.3e-16 |
PFAM |
|
low complexity region
|
125 |
133 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126761
|
| SMART Domains |
Protein: ENSMUSP00000120666
Gene: ENSMUSG00000042308
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
95 |
168 |
7.6e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144406
|
| SMART Domains |
Protein: ENSMUSP00000115248
Gene: ENSMUSG00000042308
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
95 |
168 |
7.6e-6 |
SMART |
|
low complexity region
|
209 |
242 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188580
|
| SMART Domains |
Protein: ENSMUSP00000140021
Gene: ENSMUSG00000030811
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CXXC
|
11 |
57 |
1.3e-16 |
PFAM |
|
PHD
|
67 |
129 |
4e-4 |
SMART |
|
low complexity region
|
186 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
261 |
N/A |
INTRINSIC |
|
FBOX
|
288 |
328 |
4.6e-4 |
SMART |
|
low complexity region
|
393 |
404 |
N/A |
INTRINSIC |
|
LRR
|
460 |
485 |
3.58e1 |
SMART |
|
LRR
|
515 |
540 |
1.28e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206893
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186116
|
| SMART Domains |
Protein: ENSMUSP00000140083
Gene: ENSMUSG00000030811
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
85 |
N/A |
INTRINSIC |
|
FBOX
|
112 |
152 |
3e-6 |
SMART |
|
low complexity region
|
217 |
228 |
N/A |
INTRINSIC |
|
LRR
|
284 |
309 |
1.5e-1 |
SMART |
|
LRR
|
339 |
364 |
5.3e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141439
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143951
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186207
|
| SMART Domains |
Protein: ENSMUSP00000140303
Gene: ENSMUSG00000030811
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CXXC
|
11 |
57 |
1.7e-16 |
PFAM |
|
PHD
|
67 |
129 |
4e-4 |
SMART |
|
low complexity region
|
166 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
377 |
N/A |
INTRINSIC |
|
FBOX
|
404 |
444 |
4.6e-4 |
SMART |
|
low complexity region
|
509 |
520 |
N/A |
INTRINSIC |
|
LRR
|
576 |
601 |
3.58e1 |
SMART |
|
LRR
|
631 |
656 |
1.28e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
94% (33/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
G |
A |
5: 24,774,137 (GRCm39) |
R322W |
probably damaging |
Het |
| Capns1 |
C |
A |
7: 29,893,324 (GRCm39) |
G63V |
probably damaging |
Het |
| Carmil1 |
G |
A |
13: 24,206,525 (GRCm39) |
T5M |
unknown |
Het |
| Cr2 |
T |
A |
1: 194,853,329 (GRCm39) |
K70* |
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,908,708 (GRCm39) |
I1107N |
probably damaging |
Het |
| Ehd4 |
A |
G |
2: 119,984,815 (GRCm39) |
F48L |
probably damaging |
Het |
| Fam221a |
G |
T |
6: 49,349,542 (GRCm39) |
E36* |
probably null |
Het |
| Fam81b |
G |
A |
13: 76,350,157 (GRCm39) |
Q423* |
probably null |
Het |
| Galnt7 |
C |
T |
8: 57,991,143 (GRCm39) |
V456I |
probably benign |
Het |
| Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Hrc |
A |
G |
7: 44,985,956 (GRCm39) |
H369R |
possibly damaging |
Het |
| Impg2 |
T |
G |
16: 56,080,292 (GRCm39) |
S590A |
probably benign |
Het |
| Lcn3 |
A |
T |
2: 25,656,170 (GRCm39) |
H75L |
probably benign |
Het |
| Lims1 |
T |
A |
10: 58,234,835 (GRCm39) |
|
probably null |
Het |
| Lkaaear1 |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,354 (GRCm39) |
|
probably benign |
Het |
| Or5p79 |
A |
G |
7: 108,221,141 (GRCm39) |
T41A |
probably damaging |
Het |
| Pcdhga7 |
T |
C |
18: 37,849,103 (GRCm39) |
L370P |
probably damaging |
Het |
| Phtf2 |
A |
G |
5: 21,017,937 (GRCm39) |
|
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,323,071 (GRCm39) |
Y709H |
probably damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,262,462 (GRCm39) |
S719P |
probably benign |
Het |
| Polr3g |
A |
T |
13: 81,847,650 (GRCm39) |
|
probably null |
Het |
| Ppp4r1 |
G |
A |
17: 66,131,337 (GRCm39) |
A360T |
probably benign |
Het |
| Pramel6 |
T |
C |
2: 87,339,748 (GRCm39) |
W171R |
probably damaging |
Het |
| Rad54b |
T |
C |
4: 11,583,689 (GRCm39) |
|
probably benign |
Het |
| Rasl10a |
G |
A |
11: 5,008,396 (GRCm39) |
E31K |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,583,433 (GRCm39) |
R2813G |
probably damaging |
Het |
| Tmem71 |
A |
G |
15: 66,413,539 (GRCm39) |
S178P |
possibly damaging |
Het |
| Trim58 |
A |
G |
11: 58,542,446 (GRCm39) |
T469A |
probably benign |
Het |
| Vash1 |
A |
G |
12: 86,735,683 (GRCm39) |
T190A |
probably damaging |
Het |
| Ythdc2 |
T |
C |
18: 45,006,136 (GRCm39) |
S1210P |
possibly damaging |
Het |
| Zfp42 |
G |
A |
8: 43,749,093 (GRCm39) |
T136M |
possibly damaging |
Het |
| Zfp595 |
T |
C |
13: 67,468,341 (GRCm39) |
Y72C |
probably damaging |
Het |
|
| Other mutations in Orai3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02378:Orai3
|
APN |
7 |
127,369,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03105:Orai3
|
APN |
7 |
127,372,725 (GRCm39) |
unclassified |
probably benign |
|
|
R1493:Orai3
|
UTSW |
7 |
127,373,077 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4795:Orai3
|
UTSW |
7 |
127,373,060 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4973:Orai3
|
UTSW |
7 |
127,373,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6053:Orai3
|
UTSW |
7 |
127,373,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7490:Orai3
|
UTSW |
7 |
127,372,799 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7651:Orai3
|
UTSW |
7 |
127,373,236 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7762:Orai3
|
UTSW |
7 |
127,372,743 (GRCm39) |
missense |
unknown |
|
|
R9269:Orai3
|
UTSW |
7 |
127,373,194 (GRCm39) |
missense |
probably benign |
|
|
R9584:Orai3
|
UTSW |
7 |
127,373,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGATTCTAAACAGGCAGAGC -3'
(R):5'- ACAGGAGCTGGTTTACCCATG -3'
Sequencing Primer
(F):5'- ACATGTTCTAGGGACTCAAGTGTC -3'
(R):5'- AACTTCAGCCAGGAAGAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation