Mutagenetix > Incidental Mutation

Incidental Mutation 'R9584:Orai3'

722702

Institutional Source

Beutler Lab

Gene Symbol

Orai3

Ensembl Gene

ENSMUSG00000043964

Gene Name

ORAI calcium release-activated calcium modulator 3

Synonyms

Tmem142c

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R9584 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127368987-127374322 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 127373177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 226 (R226L)

Ref Sequence

ENSEMBL: ENSMUSP00000050279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047075] [ENSMUST00000047157] [ENSMUST00000061587] [ENSMUST00000118865] [ENSMUST00000121504] [ENSMUST00000126761] [ENSMUST00000143951] [ENSMUST00000144406] [ENSMUST00000186116] [ENSMUST00000206893]

AlphaFold

Q6P8G8

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 benign
Transcript: ENSMUST00000061587
AA Change: R226L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000050279
Gene: ENSMUSG00000043964
AA Change: R226L

Domain	Start	End	E-Value	Type
Pfam:Orai-1	46	271	1.3e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118865

SMART Domains

Protein: ENSMUSP00000112382
Gene: ENSMUSG00000043964

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: ENSMUST00000143951

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: 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

probably benign
Transcript: ENSMUST00000206893

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	T	G	13: 70,949,136 (GRCm39)	D175A	probably damaging	Het
Ankhd1	A	T	18: 36,798,504 (GRCm39)	N635Y	probably benign	Het
Asxl2	T	C	12: 3,550,667 (GRCm39)	V803A	possibly damaging	Het
Brsk1	T	A	7: 4,709,662 (GRCm39)	S430T	possibly damaging	Het
Btbd8	A	T	5: 107,658,347 (GRCm39)	H1639L	probably benign	Het
Cacna2d2	T	C	9: 107,277,404 (GRCm39)	L46P	probably damaging	Het
Casz1	A	G	4: 148,985,704 (GRCm39)		probably benign	Het
Catsper2	A	T	2: 121,230,301 (GRCm39)	N344K	probably damaging	Het
Ccdc80	A	G	16: 44,915,675 (GRCm39)	S144G	probably damaging	Het
Cdh10	A	T	15: 18,992,095 (GRCm39)	L451F	probably benign	Het
Chil6	A	G	3: 106,301,672 (GRCm39)	F143L	probably damaging	Het
Dock7	G	A	4: 98,861,481 (GRCm39)	R1379*	probably null	Het
Dop1a	C	A	9: 86,385,151 (GRCm39)	L366I	possibly damaging	Het
Foxg1	G	A	12: 49,432,406 (GRCm39)	V380M	possibly damaging	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Gm10549	C	T	18: 33,597,375 (GRCm39)	P54S	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hipk3	A	G	2: 104,301,910 (GRCm39)	V94A	probably benign	Het
Impg1	T	C	9: 80,322,849 (GRCm39)	H52R	probably benign	Het
Kcnv2	T	C	19: 27,300,265 (GRCm39)	S39P	probably damaging	Het
Knop1	G	A	7: 118,447,709 (GRCm39)	S417L	unknown	Het
Muc1	C	T	3: 89,138,373 (GRCm39)	T405I	probably benign	Het
Nlrp2	C	A	7: 5,322,215 (GRCm39)	D811Y	probably damaging	Het
Nvl	A	G	1: 180,958,431 (GRCm39)	L206S	probably benign	Het
Or5ac19	A	G	16: 59,089,580 (GRCm39)	L150S	probably benign	Het
Or8g17	G	A	9: 38,930,462 (GRCm39)	A125V	probably damaging	Het
Pacs1	T	C	19: 5,322,622 (GRCm39)	M99V	probably benign	Het
Pag1	A	G	3: 9,761,214 (GRCm39)	S298P	probably damaging	Het
Pde4c	T	C	8: 71,200,728 (GRCm39)	V419A	probably benign	Het
Pitpna	C	A	11: 75,510,368 (GRCm39)	N208K	probably benign	Het
Pnpo	C	A	11: 96,831,705 (GRCm39)	E114*	probably null	Het
Pou5f2	A	G	13: 78,173,592 (GRCm39)	E178G	possibly damaging	Het
Psph	G	A	5: 129,847,752 (GRCm39)	R65C	probably damaging	Het
Sgsh	T	C	11: 119,241,789 (GRCm39)	S106G	possibly damaging	Het
Synrg	A	G	11: 83,900,200 (GRCm39)	K724R	probably damaging	Het
Tet1	A	T	10: 62,655,306 (GRCm39)	F1538L	probably damaging	Het
Thada	G	A	17: 84,733,605 (GRCm39)	T1014I	probably benign	Het
Topbp1	T	C	9: 103,219,242 (GRCm39)	W1165R	probably damaging	Het
Trrap	G	A	5: 144,777,330 (GRCm39)	V3043M	probably damaging	Het
Tshz1	G	A	18: 84,033,089 (GRCm39)	H440Y	probably damaging	Het
Vwa8	A	G	14: 79,394,549 (GRCm39)	D1550G	probably benign	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
R6684:Orai3	UTSW	7	127,372,892 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TCTCTTCCTGGCTGAAGTTG -3'
(R):5'- GCTTGCAACAGTCTAAAGCCAG -3'

Sequencing Primer
(F):5'- CTCTTCCTGGCTGAAGTTGTTCTG -3'
(R):5'- GCTTACACAGCCTGCAGC -3'

Posted On

2022-08-09