Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02378:Orai3'

291248

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Orai3

Ensembl Gene

ENSMUSG00000043964

Gene Name

ORAI calcium release-activated calcium modulator 3

Synonyms

Tmem142c

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

IGL02378

Quality Score

Status

Chromosome

Chromosomal Location

127368987-127374322 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 127369333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 58 (R58L)

Ref Sequence

ENSEMBL: ENSMUSP00000050279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033081] [ENSMUST00000061587] [ENSMUST00000118865] [ENSMUST00000121504] [ENSMUST00000186116] [ENSMUST00000186207] [ENSMUST00000188580] [ENSMUST00000206893]

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 damaging
Transcript: ENSMUST00000061587
AA Change: R58L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050279
Gene: ENSMUSG00000043964
AA Change: R58L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118865
AA Change: R58L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112382
Gene: ENSMUSG00000043964
AA Change: R58L

Domain	Start	End	E-Value	Type
Pfam:Orai-1	42	165	1.5e-62	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000121504
AA Change: R58L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113142
Gene: ENSMUSG00000043964
AA Change: R58L

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: 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: 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

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	G	A	11: 72,080,424 (GRCm39)	T414I	probably benign	Het
Abca8a	A	G	11: 109,969,641 (GRCm39)		probably benign	Het
Acer2	A	T	4: 86,804,491 (GRCm39)	T69S	probably benign	Het
Adcy2	A	G	13: 68,878,411 (GRCm39)	V409A	probably damaging	Het
Anks3	T	A	16: 4,768,626 (GRCm39)	Y239F	possibly damaging	Het
Arhgap42	G	A	9: 9,035,584 (GRCm39)	H253Y	possibly damaging	Het
Asb18	A	T	1: 89,920,710 (GRCm39)	L189Q	probably damaging	Het
C3	T	C	17: 57,519,698 (GRCm39)	R1185G	probably benign	Het
Cdca7l	T	A	12: 117,835,862 (GRCm39)	V66E	possibly damaging	Het
Cdrt4	G	T	11: 62,883,534 (GRCm39)	E79*	probably null	Het
Cep57	A	C	9: 13,732,842 (GRCm39)	Y34*	probably null	Het
Cep63	A	T	9: 102,473,314 (GRCm39)		probably benign	Het
Clip4	T	A	17: 72,144,721 (GRCm39)	I516K	possibly damaging	Het
Dnah10	A	G	5: 124,850,131 (GRCm39)	E1551G	probably damaging	Het
Dysf	T	C	6: 84,088,887 (GRCm39)	I843T	probably damaging	Het
Gabra1	C	A	11: 42,031,082 (GRCm39)	V283F	probably damaging	Het
Hcfc2	T	C	10: 82,544,905 (GRCm39)	I179T	possibly damaging	Het
Htr2c	G	A	X: 145,976,755 (GRCm39)		probably benign	Het
Irgc	G	A	7: 24,131,500 (GRCm39)	T439I	probably benign	Het
Itgae	T	A	11: 73,008,947 (GRCm39)	L476H	probably benign	Het
Jarid2	A	C	13: 45,067,801 (GRCm39)	K1070T	probably damaging	Het
Lama2	A	G	10: 26,919,652 (GRCm39)	I2193T	probably damaging	Het
Med19	A	G	2: 84,515,625 (GRCm39)	E103G	probably damaging	Het
Nav1	C	T	1: 135,397,716 (GRCm39)	D818N	probably benign	Het
Nom1	G	T	5: 29,656,124 (GRCm39)	E830*	probably null	Het
Or10g9b	T	G	9: 39,917,769 (GRCm39)	T159P	probably damaging	Het
Or5b98	A	C	19: 12,931,747 (GRCm39)	S265R	probably benign	Het
Osbpl8	T	A	10: 111,118,006 (GRCm39)	M583K	possibly damaging	Het
Pik3cb	A	T	9: 98,944,893 (GRCm39)	M624K	probably benign	Het
Rars2	G	A	4: 34,656,199 (GRCm39)	R451H	possibly damaging	Het
Rgs22	A	G	15: 36,103,951 (GRCm39)	L170P	probably benign	Het
Rps6kl1	C	A	12: 85,185,448 (GRCm39)	D417Y	probably damaging	Het
Senp6	A	G	9: 80,033,674 (GRCm39)	D106G	probably damaging	Het
Setx	C	T	2: 29,063,738 (GRCm39)		probably benign	Het
Sfswap	T	A	5: 129,616,668 (GRCm39)	Y371N	probably damaging	Het
Slc24a3	C	T	2: 145,360,322 (GRCm39)	R141C	possibly damaging	Het
Sorcs1	C	T	19: 50,171,109 (GRCm39)	W926*	probably null	Het
Steap4	A	G	5: 8,026,741 (GRCm39)	T235A	probably benign	Het
Tead2	T	A	7: 44,867,571 (GRCm39)		probably null	Het
Tll1	A	T	8: 64,470,660 (GRCm39)	L921*	probably null	Het
Tnfrsf19	T	A	14: 61,208,451 (GRCm39)	T357S	probably benign	Het
Tnik	C	A	3: 28,692,608 (GRCm39)	S825*	probably null	Het
Vil1	T	A	1: 74,469,850 (GRCm39)		probably null	Het
Vmn2r106	T	C	17: 20,497,791 (GRCm39)	K483E	probably damaging	Het
Vwa5a	G	A	9: 38,645,266 (GRCm39)	M450I	probably benign	Het
Xirp2	C	T	2: 67,344,112 (GRCm39)	P2118S	probably benign	Het

Other mutations in Orai3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9584:Orai3	UTSW	7	127,373,177 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16