Mutagenetix > Incidental Mutation

Incidental Mutation 'R7189:Stim2'

559486

Institutional Source

Beutler Lab

Gene Symbol

Stim2

Ensembl Gene

ENSMUSG00000039156

Gene Name

stromal interaction molecule 2

Synonyms

MMRRC Submission

045238-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54155865-54278399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54273470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 567 (C567S)

Ref Sequence

ENSEMBL: ENSMUSP00000113174 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117661] [ENSMUST00000201469]

AlphaFold

P83093

Predicted Effect

probably benign
Transcript: ENSMUST00000117661
AA Change: C567S

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113174
Gene: ENSMUSG00000039156
AA Change: C567S

Domain	Start	End	E-Value	Type
low complexity region	23	47	N/A	INTRINSIC
SAM	133	204	1.74e-3	SMART
PDB:4O9B\|D	241	344	2e-36	PDB
PDB:3TEQ\|D	348	448	2e-38	PDB
low complexity region	505	518	N/A	INTRINSIC
low complexity region	527	557	N/A	INTRINSIC
low complexity region	602	613	N/A	INTRINSIC
low complexity region	730	746	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000201198
AA Change: C204S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000201469
AA Change: C575S

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143855
Gene: ENSMUSG00000039156
AA Change: C575S

Domain	Start	End	E-Value	Type
low complexity region	23	47	N/A	INTRINSIC
SAM	133	204	1.74e-3	SMART
PDB:4O9B\|D	241	344	2e-36	PDB
Pfam:SOAR	345	453	1.7e-42	PFAM
low complexity region	513	526	N/A	INTRINSIC
low complexity region	535	565	N/A	INTRINSIC
low complexity region	610	621	N/A	INTRINSIC
low complexity region	738	754	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (57/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the stromal interaction molecule (STIM) family and likely arose, along with related family member STIM1, from a common ancestral gene. The encoded protein functions to regulate calcium concentrations in the cytosol and endoplasmic reticulum, and is involved in the activation of plasma membrane Orai Ca(2+) entry channels. This gene initiates translation from a non-AUG (UUG) start site. A signal peptide is cleaved from the resulting protein. Multiple transcript variants result from alternative splicing. [provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit a slight growth delay and premature death while embryonic fibroblasts show reduced store-operated Ca2+ influx. Mice homozygous for a different null allele show increased neuron survival under hypoxic conditions and resistance to ischemic brain injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	G	T	2: 103,397,861 (GRCm39)	A264S	probably benign	Het
Atosa	T	C	9: 74,911,633 (GRCm39)	C42R	probably damaging	Het
Atr	G	T	9: 95,744,844 (GRCm39)	E54*	probably null	Het
Bmp4	A	G	14: 46,621,456 (GRCm39)	S363P	probably damaging	Het
Cfap54	C	A	10: 92,773,590 (GRCm39)	A2077S	unknown	Het
Chrna7	T	C	7: 62,755,775 (GRCm39)	D257G	probably damaging	Het
Chrnd	C	T	1: 87,118,780 (GRCm39)	R46W	probably damaging	Het
Cntn2	A	G	1: 132,444,824 (GRCm39)	I851T	probably damaging	Het
Col3a1	T	A	1: 45,372,817 (GRCm39)	I534K	unknown	Het
Cyp3a25	A	T	5: 145,939,870 (GRCm39)	L46I	probably benign	Het
Dnah7b	G	C	1: 46,281,302 (GRCm39)	G2788R	probably damaging	Het
Dnpep	T	C	1: 75,290,074 (GRCm39)	E301G	probably damaging	Het
Efcab3	T	C	11: 104,986,690 (GRCm39)	S30P	probably benign	Het
Elk4	A	G	1: 131,947,127 (GRCm39)	I373V	probably damaging	Het
Fam161b	T	C	12: 84,395,420 (GRCm39)	S508G	probably damaging	Het
Fgf10	A	G	13: 118,925,659 (GRCm39)	E146G	probably benign	Het
Fsip2	A	G	2: 82,823,581 (GRCm39)	D6438G	possibly damaging	Het
Garin2	C	T	12: 78,758,982 (GRCm39)	P101S	probably benign	Het
Gask1b	T	A	3: 79,794,114 (GRCm39)	L194*	probably null	Het
Gm49355	T	A	14: 12,296,672 (GRCm38)	C10*	probably null	Het
Hfm1	A	G	5: 107,049,569 (GRCm39)		probably null	Het
Hivep3	T	C	4: 119,989,416 (GRCm39)	S1956P	probably damaging	Het
Hrh2	A	G	13: 54,375,270 (GRCm39)	S369G	unknown	Het
Hspg2	T	C	4: 137,260,872 (GRCm39)		probably null	Het
Hsph1	T	C	5: 149,553,925 (GRCm39)	Y181C	probably damaging	Het
Kcnh8	A	G	17: 53,201,145 (GRCm39)		probably null	Het
Kctd1	C	T	18: 15,195,700 (GRCm39)	E308K	possibly damaging	Het
Kdm8	A	T	7: 125,060,103 (GRCm39)	Y335F	probably damaging	Het
Kif2b	C	G	11: 91,467,963 (GRCm39)	G107R	probably benign	Het
Lama4	G	A	10: 38,841,729 (GRCm39)		probably benign	Het
Lepr	T	C	4: 101,671,961 (GRCm39)	V995A	probably benign	Het
Mfsd4a	A	T	1: 131,980,131 (GRCm39)	V375E	probably damaging	Het
Mgl2	G	T	11: 70,027,869 (GRCm39)	W359L	probably damaging	Het
Muc5b	C	A	7: 141,414,798 (GRCm39)	Y2581*	probably null	Het
Nol10	G	T	12: 17,423,562 (GRCm39)		probably null	Het
Or4k47	T	A	2: 111,451,538 (GRCm39)	M294L	probably benign	Het
Or52n3	A	T	7: 104,530,348 (GRCm39)	K145*	probably null	Het
Otud3	C	T	4: 138,636,865 (GRCm39)	V99M	probably damaging	Het
Parvb	T	C	15: 84,187,672 (GRCm39)		probably null	Het
Pclo	C	A	5: 14,571,932 (GRCm39)	P439Q	possibly damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Pkn1	A	T	8: 84,419,302 (GRCm39)	H100Q	possibly damaging	Het
Plce1	A	T	19: 38,748,581 (GRCm39)	I1771F	probably damaging	Het
Plxna2	G	T	1: 194,483,366 (GRCm39)	R1559L	possibly damaging	Het
Ppp2r3d	T	A	9: 101,003,621 (GRCm39)	I416L	possibly damaging	Het
Pramel42	T	A	5: 94,685,610 (GRCm39)	Y423*	probably null	Het
Robo1	C	A	16: 72,757,039 (GRCm39)	C333*	probably null	Het
Ryr2	A	T	13: 11,898,009 (GRCm39)	Y129N	probably damaging	Het
Schip1	A	T	3: 68,525,032 (GRCm39)	K359M	probably damaging	Het
Schip1	G	T	3: 68,525,033 (GRCm39)	K359N	probably damaging	Het
Sh2d2a	T	A	3: 87,755,668 (GRCm39)	S65T	possibly damaging	Het
Ssrp1	G	A	2: 84,875,906 (GRCm39)	M588I	probably benign	Het
Syne1	C	A	10: 5,374,295 (GRCm39)	A171S	probably benign	Het
Tigd3	A	G	19: 5,943,050 (GRCm39)	S27P	probably benign	Het
Vipr1	C	A	9: 121,493,620 (GRCm39)	Q224K	probably damaging	Het
Vmn1r75	T	A	7: 11,614,475 (GRCm39)	M69K	possibly damaging	Het
Vmn2r72	T	G	7: 85,404,125 (GRCm39)	D22A	probably benign	Het
Zbtb24	G	A	10: 41,340,472 (GRCm39)	V523I	probably benign	Het
Zbtb43	A	G	2: 33,352,307 (GRCm39)	F20S	probably benign	Het

Other mutations in Stim2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Stim2	APN	5	54,210,835 (GRCm39)	missense	probably benign	0.09
IGL02276:Stim2	APN	5	54,210,712 (GRCm39)	splice site	probably benign
IGL02643:Stim2	APN	5	54,267,955 (GRCm39)	missense	probably damaging	1.00
R0368:Stim2	UTSW	5	54,267,482 (GRCm39)	critical splice donor site	probably null
R0825:Stim2	UTSW	5	54,275,825 (GRCm39)	missense	probably benign	0.22
R1453:Stim2	UTSW	5	54,273,451 (GRCm39)	missense	probably damaging	1.00
R1549:Stim2	UTSW	5	54,262,667 (GRCm39)	missense	probably damaging	1.00
R2103:Stim2	UTSW	5	54,262,591 (GRCm39)	missense	possibly damaging	0.74
R2114:Stim2	UTSW	5	54,261,819 (GRCm39)	missense	probably damaging	1.00
R2147:Stim2	UTSW	5	54,262,717 (GRCm39)	missense	probably damaging	1.00
R2159:Stim2	UTSW	5	54,267,156 (GRCm39)	missense	probably damaging	1.00
R4467:Stim2	UTSW	5	54,273,536 (GRCm39)	critical splice donor site	probably null
R4809:Stim2	UTSW	5	54,267,955 (GRCm39)	missense	probably damaging	1.00
R4857:Stim2	UTSW	5	54,275,888 (GRCm39)	missense	probably damaging	1.00
R4959:Stim2	UTSW	5	54,262,712 (GRCm39)	missense	probably benign
R5125:Stim2	UTSW	5	54,267,939 (GRCm39)	missense	probably damaging	1.00
R5427:Stim2	UTSW	5	54,268,281 (GRCm39)	missense	possibly damaging	0.95
R5441:Stim2	UTSW	5	54,232,712 (GRCm39)	nonsense	probably null
R5617:Stim2	UTSW	5	54,267,075 (GRCm39)	missense	probably damaging	0.99
R5924:Stim2	UTSW	5	54,259,985 (GRCm39)	missense	probably benign	0.01
R6169:Stim2	UTSW	5	54,276,021 (GRCm39)	missense	probably damaging	1.00
R6689:Stim2	UTSW	5	54,273,318 (GRCm39)	missense	probably damaging	1.00
R6893:Stim2	UTSW	5	54,210,787 (GRCm39)	missense	probably benign	0.13
R6971:Stim2	UTSW	5	54,275,641 (GRCm39)	nonsense	probably null
R7133:Stim2	UTSW	5	54,156,263 (GRCm39)	missense	possibly damaging	0.70
R7947:Stim2	UTSW	5	54,275,671 (GRCm39)	missense	probably damaging	0.99
R8806:Stim2	UTSW	5	54,156,257 (GRCm39)	missense	probably benign
R8939:Stim2	UTSW	5	54,262,673 (GRCm39)	missense	possibly damaging	0.55
R9567:Stim2	UTSW	5	54,232,707 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACATTGGTGGCTATGAGC -3'
(R):5'- TGCACAAAATACACTGTGGC -3'

Sequencing Primer
(F):5'- GGCTAAACCTGCAGGATCTTTAGC -3'
(R):5'- AATACACTGTGGCACTCCTG -3'

Posted On

2019-06-26