Mutagenetix > Incidental Mutation

Incidental Mutation 'R6053:Orai3'

484237

Institutional Source

Beutler Lab

Gene Symbol

Orai3

Ensembl Gene

ENSMUSG00000043964

Gene Name

ORAI calcium release-activated calcium modulator 3

Synonyms

Tmem142c

MMRRC Submission

044221-MU

Accession Numbers

Essential gene?

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

Stock #

R6053 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127368987-127374322 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127373050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 184 (P184S)

Ref Sequence

ENSEMBL: ENSMUSP00000050279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033081] [ENSMUST00000047075] [ENSMUST00000047157] [ENSMUST00000061587] [ENSMUST00000118865] [ENSMUST00000121504] [ENSMUST00000126761] [ENSMUST00000206893] [ENSMUST00000144406] [ENSMUST00000143951] [ENSMUST00000186207] [ENSMUST00000186116]

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 benign
Transcript: ENSMUST00000061587
AA Change: P184S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000050279
Gene: ENSMUSG00000043964
AA Change: P184S

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: ENSMUST00000206893

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141439

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: 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

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,964,666 (GRCm39)	Y2158H	probably damaging	Het
Acap1	T	G	11: 69,777,896 (GRCm39)		probably null	Het
Adamts4	T	A	1: 171,080,284 (GRCm39)	I279N	possibly damaging	Het
Akap3	A	G	6: 126,843,496 (GRCm39)	E705G	probably damaging	Het
Aoc1l3	A	G	6: 48,965,422 (GRCm39)	T477A	probably benign	Het
Arap3	C	A	18: 38,123,824 (GRCm39)	L398F	probably damaging	Het
Catsperg1	A	T	7: 28,910,239 (GRCm39)	L34*	probably null	Het
Ccdc171	T	G	4: 83,713,456 (GRCm39)	L1165R	probably damaging	Het
Ccdc3	G	A	2: 5,233,838 (GRCm39)	V221I	probably benign	Het
Cdc42ep4	T	A	11: 113,619,812 (GRCm39)	H193L	probably damaging	Het
Clcn1	G	A	6: 42,277,208 (GRCm39)	W361*	probably null	Het
Cntn2	T	C	1: 132,446,090 (GRCm39)	N832S	probably benign	Het
Col5a1	A	T	2: 27,904,389 (GRCm39)		probably benign	Het
Cplane1	A	G	15: 8,217,945 (GRCm39)	D785G	probably benign	Het
Cspg4b	C	A	13: 113,457,260 (GRCm39)	P1102Q	possibly damaging	Het
Ctc1	T	A	11: 68,918,727 (GRCm39)	M550K	probably benign	Het
Dennd5a	T	C	7: 109,532,952 (GRCm39)	R273G	probably damaging	Het
Dnajb7	T	C	15: 81,291,500 (GRCm39)	E279G	probably benign	Het
Dop1a	G	T	9: 86,397,347 (GRCm39)	G882W	possibly damaging	Het
Dvl2	A	G	11: 69,896,819 (GRCm39)	R238G	possibly damaging	Het
Ect2l	A	T	10: 18,017,592 (GRCm39)	L629Q	probably damaging	Het
Enpp1	T	C	10: 24,533,024 (GRCm39)	D497G	possibly damaging	Het
Ep400	T	C	5: 110,903,661 (GRCm39)	M313V	probably benign	Het
Epn2	T	C	11: 61,437,323 (GRCm39)	Y83C	probably damaging	Het
Ercc3	T	G	18: 32,379,807 (GRCm39)	V338G	probably damaging	Het
Fkbp5	T	C	17: 28,647,440 (GRCm39)	I132V	probably benign	Het
Fn1	A	T	1: 71,638,449 (GRCm39)	Y1846N	probably damaging	Het
Foxg1	T	C	12: 49,432,161 (GRCm39)	L298P	possibly damaging	Het
Foxo3	G	A	10: 42,073,210 (GRCm39)	P436S	probably benign	Het
Gbx2	T	C	1: 89,858,159 (GRCm39)	T107A	probably benign	Het
Gli1	G	T	10: 127,170,184 (GRCm39)	H324N	probably damaging	Het
Gnas	T	A	2: 174,141,645 (GRCm39)	S605T	possibly damaging	Het
Ica1	C	T	6: 8,630,783 (GRCm39)	A431T	probably benign	Het
Il10ra	C	T	9: 45,167,601 (GRCm39)	D319N	probably damaging	Het
Jmjd4	T	A	11: 59,344,870 (GRCm39)	H274Q	probably damaging	Het
Krt28	C	A	11: 99,262,027 (GRCm39)	L294F	probably benign	Het
Ltbp3	C	A	19: 5,802,122 (GRCm39)	T766K	probably damaging	Het
Man2b2	C	A	5: 36,970,382 (GRCm39)	M841I	probably benign	Het
Mmp14	T	A	14: 54,673,347 (GRCm39)	M85K	probably benign	Het
Mmp1b	T	A	9: 7,385,031 (GRCm39)	D206V	probably benign	Het
Muc5b	T	C	7: 141,418,445 (GRCm39)	F3797S	probably benign	Het
Mug1	A	G	6: 121,842,697 (GRCm39)	D561G	probably benign	Het
Myo18a	T	A	11: 77,709,002 (GRCm39)	H471Q	probably damaging	Het
Nfkb2	A	G	19: 46,300,251 (GRCm39)	E873G	probably damaging	Het
Ngfr	G	A	11: 95,461,832 (GRCm39)	H361Y	possibly damaging	Het
Nnt	T	C	13: 119,494,045 (GRCm39)	T679A	possibly damaging	Het
Notch1	A	T	2: 26,362,924 (GRCm39)	N947K	probably benign	Het
Nrg4	A	T	9: 55,143,774 (GRCm39)	V94D	probably benign	Het
Nsd1	G	T	13: 55,441,422 (GRCm39)	C1631F	probably damaging	Het
Nutm1	T	C	2: 112,079,435 (GRCm39)	T827A	probably benign	Het
Or2t47	T	A	11: 58,442,892 (GRCm39)	M58L	possibly damaging	Het
Or4c114	T	C	2: 88,904,898 (GRCm39)	D179G	probably damaging	Het
Or5h19	A	T	16: 58,856,351 (GRCm39)	Y250N	probably damaging	Het
Or6p1	C	A	1: 174,258,135 (GRCm39)	S47*	probably null	Het
Or8b36	TTGCTGT	TTGCTGTCTGCTGT	9: 37,937,837 (GRCm39)		probably null	Het
Paqr3	A	T	5: 97,259,137 (GRCm39)	S56T	probably benign	Het
Pard6b	C	T	2: 167,940,973 (GRCm39)	T320M	possibly damaging	Het
Pgs1	T	C	11: 117,892,535 (GRCm39)	S166P	probably damaging	Het
Plaa	T	C	4: 94,478,121 (GRCm39)	T114A	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Plin4	A	T	17: 56,415,618 (GRCm39)	D73E	probably benign	Het
Plxnb1	T	C	9: 108,940,775 (GRCm39)	L1550P	probably damaging	Het
Rbak	A	C	5: 143,160,437 (GRCm39)	Y205*	probably null	Het
Rgs12	T	C	5: 35,123,296 (GRCm39)	F360L	probably benign	Het
Rgs22	A	T	15: 36,100,153 (GRCm39)	D187E	probably benign	Het
Sec24d	C	T	3: 123,072,871 (GRCm39)	Q66*	probably null	Het
Sh2d5	T	A	4: 137,982,873 (GRCm39)	M85K	probably damaging	Het
Sos1	A	G	17: 80,722,463 (GRCm39)	V861A	possibly damaging	Het
Stk11ip	T	A	1: 75,510,899 (GRCm39)		probably null	Het
Tmem26	G	A	10: 68,584,314 (GRCm39)	E127K	probably benign	Het
Tmem41a	T	G	16: 21,753,739 (GRCm39)	T211P	possibly damaging	Het
Tmem69	T	A	4: 116,410,581 (GRCm39)	M130L	possibly damaging	Het
Trak2	C	A	1: 58,943,228 (GRCm39)	R726L	possibly damaging	Het
Vmn1r231	A	G	17: 21,110,081 (GRCm39)	I278T	probably damaging	Het
Vwf	G	A	6: 125,577,628 (GRCm39)	V490I	probably benign	Het
Wdr33	C	T	18: 32,011,116 (GRCm39)	T255I	possibly damaging	Het
Ylpm1	G	T	12: 85,043,277 (GRCm39)	W5L	possibly damaging	Het
Zfp169	A	T	13: 48,652,334 (GRCm39)	W28R	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
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

Predicted Primers

PCR Primer
(F):5'- TGCTGCCCCATATTGAAGCC -3'
(R):5'- AGTCCCACAGGTACCATGATTG -3'

Sequencing Primer
(F):5'- TGCCCCATATTGAAGCCGTGAG -3'
(R):5'- ACAGGTACCATGATTGCCGTG -3'

Posted On

2017-07-14