Mutagenetix > Incidental Mutation

Incidental Mutation 'R5617:Stim2'

439576

Institutional Source

Beutler Lab

Gene Symbol

Stim2

Ensembl Gene

ENSMUSG00000039156

Gene Name

stromal interaction molecule 2

Synonyms

MMRRC Submission

043276-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54155865-54278399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 54267075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 21 (E21K)

Gene Model

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

AlphaFold

P83093

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117661
AA Change: E338K

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113174
Gene: ENSMUSG00000039156
AA Change: E338K

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

not run
Transcript: ENSMUST00000152812
AA Change: E21K

Predicted Effect

probably damaging
Transcript: ENSMUST00000201198
AA Change: E21K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201469
AA Change: E338K

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143855
Gene: ENSMUSG00000039156
AA Change: E338K

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

Meta Mutation Damage Score

0.1824

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (59/59)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,227,891 (GRCm39)	L645F	probably benign	Het
Acss3	T	C	10: 106,787,851 (GRCm39)	Y522C	probably damaging	Het
Asb18	A	G	1: 89,882,184 (GRCm39)	V118A	possibly damaging	Het
Aste1	T	A	9: 105,275,034 (GRCm39)	C8S	probably benign	Het
Atp10a	A	G	7: 58,453,423 (GRCm39)	S834G	probably benign	Het
Cdh18	A	G	15: 23,226,854 (GRCm39)	D105G	probably damaging	Het
Cenpb	T	C	2: 131,020,934 (GRCm39)	E288G	probably damaging	Het
Clcnka	C	T	4: 141,116,628 (GRCm39)	G541D	probably null	Het
Dctn3	T	C	4: 41,716,407 (GRCm39)	I134V	possibly damaging	Het
Dennd4b	T	C	3: 90,182,933 (GRCm39)	S917P	probably benign	Het
Fam135b	A	T	15: 71,493,865 (GRCm39)	D21E	probably damaging	Het
Fam174a	T	C	1: 95,241,972 (GRCm39)	V144A	probably damaging	Het
Fbxo38	A	G	18: 62,639,042 (GRCm39)	Y1087H	probably damaging	Het
Gm7275	A	T	16: 47,894,527 (GRCm39)		noncoding transcript	Het
Gm9271	G	T	7: 39,013,076 (GRCm39)		noncoding transcript	Het
Grm2	T	C	9: 106,528,275 (GRCm39)		probably null	Het
Htt	T	A	5: 35,028,150 (GRCm39)	V1802D	possibly damaging	Het
Ighv1-75	C	A	12: 115,797,874 (GRCm39)	G16V	probably benign	Het
Krt78	G	A	15: 101,856,044 (GRCm39)	T589I	probably damaging	Het
Lama3	T	C	18: 12,631,993 (GRCm39)		probably benign	Het
Lbr	A	T	1: 181,656,467 (GRCm39)	V227D	probably benign	Het
Lsamp	T	C	16: 41,954,786 (GRCm39)	V211A	probably damaging	Het
Map3k19	G	A	1: 127,750,703 (GRCm39)	R883C	probably damaging	Het
Marchf8	A	C	6: 116,380,481 (GRCm39)	I111L	possibly damaging	Het
Mrps10	T	A	17: 47,689,167 (GRCm39)	M187K	probably benign	Het
Ncdn	G	A	4: 126,638,840 (GRCm39)	R660C	probably damaging	Het
Notum	A	T	11: 120,547,171 (GRCm39)	Y332*	probably null	Het
Nr1h5	A	T	3: 102,855,145 (GRCm39)	L319I	probably damaging	Het
Or51q1	A	T	7: 103,628,921 (GRCm39)	H180L	possibly damaging	Het
Or8k35	T	A	2: 86,424,345 (GRCm39)	I276L	probably benign	Het
Osbpl5	T	C	7: 143,246,684 (GRCm39)	D765G	possibly damaging	Het
Parp3	C	T	9: 106,351,704 (GRCm39)	V170M	possibly damaging	Het
Pcdh15	A	G	10: 74,471,504 (GRCm39)		probably benign	Het
Pcdha9	T	G	18: 37,131,869 (GRCm39)	S313A	probably benign	Het
Pfkm	A	G	15: 98,020,107 (GRCm39)	R201G	possibly damaging	Het
Pgm5	G	A	19: 24,727,765 (GRCm39)	R375*	probably null	Het
Phactr2	A	G	10: 13,349,809 (GRCm39)	S72P	possibly damaging	Het
Plaat1	A	T	16: 29,039,162 (GRCm39)	R81*	probably null	Het
Plec	A	G	15: 76,058,732 (GRCm39)	L3600P	probably damaging	Het
Pou6f1	G	A	15: 100,483,874 (GRCm39)	T208M	possibly damaging	Het
Rabep1	C	T	11: 70,808,355 (GRCm39)	S394L	probably damaging	Het
Ranbp2	T	G	10: 58,301,489 (GRCm39)	F687C	probably damaging	Het
Ranbp6	A	G	19: 29,789,863 (GRCm39)	F163S	probably damaging	Het
Rcor3	T	C	1: 191,804,430 (GRCm39)	N240D	probably benign	Het
Samd13	C	A	3: 146,352,065 (GRCm39)	K95N	probably benign	Het
Slc25a17	G	T	15: 81,244,975 (GRCm39)		probably benign	Het
Slfn8	G	T	11: 82,895,547 (GRCm39)	H420N	probably benign	Het
Sptbn5	G	A	2: 119,876,965 (GRCm39)		probably benign	Het
Tmem163	A	G	1: 127,479,067 (GRCm39)	Y151H	possibly damaging	Het
Trio	A	G	15: 27,902,834 (GRCm39)	I209T	probably benign	Het
Tubal3	T	A	13: 3,983,432 (GRCm39)	L404H	probably damaging	Het
Ubqln3	A	G	7: 103,791,640 (GRCm39)	F150S	probably damaging	Het
Ubr5	T	C	15: 38,030,901 (GRCm39)	S425G	possibly damaging	Het
Vmn2r52	T	A	7: 9,904,861 (GRCm39)	H326L	probably damaging	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
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
R7189:Stim2	UTSW	5	54,273,470 (GRCm39)	missense	probably benign	0.08
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'- TTCAAGGCAGCACTAGTTTTG -3'
(R):5'- TCTTCAAGAAGGGCTTTTACTGAGG -3'

Sequencing Primer
(F):5'- GGCAGCACTAGTTTTGAAATAAATC -3'
(R):5'- GCTTTTACTGAGGTCTTTGAATTCC -3'

Posted On

2016-11-08