Mutagenetix > Incidental Mutations

Incidental Mutation 'R5229:Tspan2'

403639

Institutional Source

Beutler Lab

Gene Symbol

Tspan2

Ensembl Gene

ENSMUSG00000027858

Gene Name

tetraspanin 2

Synonyms

B230119D02Rik, 6330415F13Rik

MMRRC Submission

042802-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5229 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

102734529-102801513 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102768899 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 208 (M208T)

Ref Sequence

ENSEMBL: ENSMUSP00000029451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029451] [ENSMUST00000119902] [ENSMUST00000196611] [ENSMUST00000197345]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029451
AA Change: M208T

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

SMART Domains

Protein: ENSMUSP00000029451
Gene: ENSMUSG00000027858
AA Change: M208T

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	10	214	6.6e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119902
AA Change: M204T

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

SMART Domains

Protein: ENSMUSP00000113803
Gene: ENSMUSG00000027858
AA Change: M204T

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
Pfam:Tetraspannin	19	210	2.1e-38	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196611
AA Change: M140T

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142964
Gene: ENSMUSG00000027858
AA Change: M140T

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	1	146	1.9e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197345

SMART Domains

Protein: ENSMUSP00000142543
Gene: ENSMUSG00000027858

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	3	87	1.5e-6	PFAM

Meta Mutation Damage Score

0.5469

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice are viable and fertile with mild astrogliosis and microgliosis in the absence of axonal pathology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	T	C	1: 16,080,959		probably benign	Het
4930562C15Rik	A	G	16: 4,850,051	I435M	possibly damaging	Het
8430408G22Rik	T	C	6: 116,652,031	S112P	possibly damaging	Het
Adcy5	A	G	16: 35,269,070	I546V	probably damaging	Het
Apob	A	G	12: 7,977,806	T10A	probably benign	Het
Brwd1	C	A	16: 96,002,209	D2254Y	possibly damaging	Het
Bub1b	C	A	2: 118,629,989	D600E	probably damaging	Het
C87499	T	C	4: 88,630,135	D11G	possibly damaging	Het
Cnga1	A	G	5: 72,609,500	S199P	probably damaging	Het
Cyp3a11	G	T	5: 145,855,135	L483I	probably benign	Het
Dpysl3	C	A	18: 43,332,951	G457V	probably damaging	Het
Eif4g3	C	A	4: 138,096,794	P36T	possibly damaging	Het
Epb41	C	A	4: 131,978,935	G415C	probably damaging	Het
Erap1	G	A	13: 74,660,375	V69M	possibly damaging	Het
F2	A	T	2: 91,630,241	Y301*	probably null	Het
F2rl2	A	T	13: 95,700,687	N80I	possibly damaging	Het
Gm15446	T	G	5: 109,943,170	H429Q	probably damaging	Het
Gm8773	A	T	5: 5,575,565	Y87F	possibly damaging	Het
Gpat3	G	A	5: 100,883,424	G148D	probably damaging	Het
Gpr26	A	T	7: 131,984,247	R315S	probably damaging	Het
Hdac9	A	C	12: 34,437,164	H100Q	probably damaging	Het
Heatr5a	A	T	12: 51,947,978	V457D	probably benign	Het
Igkv10-96	A	G	6: 68,632,239	M24T	possibly damaging	Het
Igkv2-95-2	A	G	6: 68,648,111		noncoding transcript	Het
Kdm4a	G	A	4: 118,146,605	S758F	probably damaging	Het
Lrg1	A	G	17: 56,120,154	W273R	probably damaging	Het
Man2a1	A	T	17: 64,710,734	Q658H	probably benign	Het
Mapkapk5	T	C	5: 121,533,391		probably null	Het
Mcm6	T	C	1: 128,333,584	D761G	possibly damaging	Het
Myh8	A	T	11: 67,284,484	Y286F	probably damaging	Het
Nbn	C	T	4: 15,963,893	T98I	probably damaging	Het
Nrd1	T	C	4: 109,049,108	S685P	probably damaging	Het
Nudcd3	A	G	11: 6,193,238	V80A	probably benign	Het
Olfr121	A	G	17: 37,752,301	H149R	probably benign	Het
Olfr474	A	G	7: 107,955,169	H176R	probably damaging	Het
Pdcd6ip	A	T	9: 113,678,333	M390K	probably damaging	Het
Pon1	C	T	6: 5,177,295	V205I	possibly damaging	Het
Ppp4r2	C	A	6: 100,865,215	H212Q	probably benign	Het
Prl2c5	G	A	13: 13,185,856	C33Y	probably damaging	Het
Rbak	A	G	5: 143,174,162	F379L	probably damaging	Het
Rcc2	G	A	4: 140,717,029	D344N	probably damaging	Het
Rgs3	T	C	4: 62,702,187	L550P	probably damaging	Het
Rnasek	A	T	11: 70,239,660	M25K	probably damaging	Het
Scgb1b24	A	T	7: 33,744,095	T60S	possibly damaging	Het
Scn5a	A	G	9: 119,535,976	F392S	probably damaging	Het
Scpep1	A	T	11: 88,937,045	V209E	probably damaging	Het
Slc35g1	A	G	19: 38,402,632		probably null	Het
Sorbs1	A	G	19: 40,340,707	I554T	probably damaging	Het
Spats1	A	G	17: 45,466,133		probably benign	Het
Tdp1	A	G	12: 99,893,660	Q202R	probably damaging	Het
Trav6-5	T	G	14: 53,491,588	S102A	probably damaging	Het
Ube4b	A	G	4: 149,387,178	S84P	probably damaging	Het
Vmn1r237	C	A	17: 21,314,371	Q119K	probably benign	Het
Vmn2r125	C	T	4: 156,351,038	T237I	probably benign	Het
Zfp65	A	T	13: 67,708,810	S117T	probably benign	Het

Other mutations in Tspan2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Tspan2	APN	3	102758233	critical splice donor site	probably null
IGL02341:Tspan2	APN	3	102765213	missense	probably damaging	1.00
R0336:Tspan2	UTSW	3	102735027	missense	probably null	0.00
R0399:Tspan2	UTSW	3	102759385	missense	probably damaging	1.00
R1732:Tspan2	UTSW	3	102768877	missense	probably damaging	1.00
R5118:Tspan2	UTSW	3	102749835	missense	probably benign	0.17
R7085:Tspan2	UTSW	3	102760954	missense	probably benign	0.01
R7431:Tspan2	UTSW	3	102749791	missense	probably damaging	1.00
R8343:Tspan2	UTSW	3	102768910	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACGTCTTGCTTAGTTGCCATC -3'
(R):5'- CAGACATTCACTCAAGGGGC -3'

Sequencing Primer
(F):5'- GCTTAGTTGCCATCCTTAAGAAAC -3'
(R):5'- GAGTCAGACTTACATACATGTGC -3'

Posted On

2016-07-22