Mutagenetix > Incidental Mutation

Incidental Mutation 'R7085:Tspan2'

549810

Institutional Source

Beutler Lab

Gene Symbol

Tspan2

Ensembl Gene

ENSMUSG00000027858

Gene Name

tetraspanin 2

Synonyms

B230119D02Rik, 6330415F13Rik

MMRRC Submission

045179-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7085 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102642086-102679626 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 102668270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 168 (L168I)

Ref Sequence

ENSEMBL: ENSMUSP00000029451 (fasta)

Gene Model

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

AlphaFold

Q922J6

Predicted Effect

probably benign
Transcript: ENSMUST00000029451
AA Change: L168I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000029451
Gene: ENSMUSG00000027858
AA Change: L168I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119902
AA Change: L164I

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113803
Gene: ENSMUSG00000027858
AA Change: L164I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196611
AA Change: L100I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000142964
Gene: ENSMUSG00000027858
AA Change: L100I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197345
AA Change: L53I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142543
Gene: ENSMUSG00000027858
AA Change: L53I

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

Meta Mutation Damage Score

0.0766

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (75/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	C	10: 29,100,476 (GRCm39)	L283P	probably damaging	Het
Abhd18	T	C	3: 40,871,344 (GRCm39)	M132T	possibly damaging	Het
Afap1l1	A	G	18: 61,881,885 (GRCm39)	V270A	possibly damaging	Het
Ankrd34a	A	T	3: 96,505,945 (GRCm39)	Q383L	probably benign	Het
Atp8b5	A	G	4: 43,361,835 (GRCm39)	D627G	probably damaging	Het
Atrnl1	T	A	19: 57,680,289 (GRCm39)	C730S	probably damaging	Het
Bclaf1	T	C	10: 20,197,768 (GRCm39)	S4P	unknown	Het
Blzf1	T	C	1: 164,129,893 (GRCm39)	D153G	probably damaging	Het
Btaf1	T	C	19: 36,950,318 (GRCm39)	V516A	probably benign	Het
C1qa	T	C	4: 136,625,091 (GRCm39)	T20A	probably benign	Het
Cacna1e	A	T	1: 154,349,492 (GRCm39)		probably null	Het
Cfd	T	G	10: 79,728,326 (GRCm39)	V229G	probably damaging	Het
Chd3	T	A	11: 69,260,027 (GRCm39)	H64L	unknown	Het
Cntn3	A	G	6: 102,142,362 (GRCm39)	S1002P	possibly damaging	Het
Cntrl	T	A	2: 35,055,804 (GRCm39)	C1786S	probably benign	Het
Cpa1	A	G	6: 30,643,619 (GRCm39)	D355G	probably benign	Het
D130043K22Rik	T	C	13: 25,056,285 (GRCm39)	V539A	possibly damaging	Het
Ddx1	A	C	12: 13,279,356 (GRCm39)	W428G	probably damaging	Het
Ddx49	G	A	8: 70,755,133 (GRCm39)		probably benign	Het
Dnhd1	T	A	7: 105,364,468 (GRCm39)	V4207E	probably benign	Het
Dock3	A	G	9: 106,779,086 (GRCm39)	S288P	probably damaging	Het
Drap1	G	A	19: 5,474,815 (GRCm39)		probably benign	Het
Ecm2	G	A	13: 49,674,378 (GRCm39)	R266K	probably damaging	Het
Emilin2	A	G	17: 71,581,100 (GRCm39)	L542S	probably damaging	Het
Evx1	T	C	6: 52,293,677 (GRCm39)	Y282H	possibly damaging	Het
Fbxo44	T	A	4: 148,243,200 (GRCm39)	H20L	probably damaging	Het
Flot2	G	T	11: 77,948,900 (GRCm39)	A292S	possibly damaging	Het
Fry	A	G	5: 150,362,214 (GRCm39)	I2161V	probably benign	Het
Gli3	T	C	13: 15,889,647 (GRCm39)	F587S	probably damaging	Het
Gm49368	A	G	7: 127,726,029 (GRCm39)	D1147G	unknown	Het
Gprc5b	A	T	7: 118,582,855 (GRCm39)	M338K	probably damaging	Het
H1f11-ps	A	G	19: 47,159,101 (GRCm39)	V158A	unknown	Het
Hacd3	A	C	9: 64,905,525 (GRCm39)	N204K	probably damaging	Het
Hsd3b9	T	C	3: 98,357,710 (GRCm39)	N101D	probably damaging	Het
Hydin	A	G	8: 111,329,962 (GRCm39)	T4899A	probably benign	Het
Ido2	T	A	8: 25,048,212 (GRCm39)	R49S	probably benign	Het
Igsf3	C	A	3: 101,362,805 (GRCm39)	T942K	probably benign	Het
Kank4	T	A	4: 98,668,183 (GRCm39)	Q88L	probably benign	Het
Krtap16-1	T	A	11: 99,877,111 (GRCm39)	I98F	possibly damaging	Het
Laptm4a	T	C	12: 8,972,113 (GRCm39)	V52A	probably benign	Het
Lmbr1	A	T	5: 29,566,090 (GRCm39)		probably null	Het
Lnx1	G	A	5: 74,788,846 (GRCm39)	S31F	possibly damaging	Het
Mafa	G	T	15: 75,619,536 (GRCm39)	A79E	unknown	Het
Me2	A	T	18: 73,914,129 (GRCm39)	N467K	probably damaging	Het
Med23	T	A	10: 24,746,019 (GRCm39)	L8Q	probably damaging	Het
Muc16	T	A	9: 18,556,145 (GRCm39)	I3383F	unknown	Het
Nbas	G	T	12: 13,335,259 (GRCm39)	S151I	probably damaging	Het
Or10ag60	T	A	2: 87,437,750 (GRCm39)	I6N	probably benign	Het
Or10d5j	C	A	9: 39,867,808 (GRCm39)	C141F	probably damaging	Het
Or13c25	C	T	4: 52,910,961 (GRCm39)	A278T	probably benign	Het
Or6k6	T	A	1: 173,945,226 (GRCm39)	I119F	probably damaging	Het
Or7d11	G	A	9: 19,966,232 (GRCm39)	H58Y	probably benign	Het
Piezo1	A	G	8: 123,217,633 (GRCm39)	V1305A		Het
Plcb3	T	C	19: 6,937,501 (GRCm39)	E639G	possibly damaging	Het
Polr2a	A	G	11: 69,634,706 (GRCm39)	L658P	probably damaging	Het
Prag1	A	T	8: 36,571,391 (GRCm39)	Q658L	possibly damaging	Het
Prex2	A	T	1: 11,168,812 (GRCm39)	R269S	possibly damaging	Het
Reln	C	A	5: 22,120,085 (GRCm39)	G2856*	probably null	Het
Rsph10b	A	T	5: 143,886,102 (GRCm39)	T267S	possibly damaging	Het
Rtn4rl1	A	G	11: 75,156,050 (GRCm39)	I161V	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sbno1	G	A	5: 124,519,783 (GRCm39)	P1165L	possibly damaging	Het
Scn3b	T	C	9: 40,188,394 (GRCm39)	V29A	probably damaging	Het
Sh3d21	T	A	4: 126,056,884 (GRCm39)	T13S	probably benign	Het
Shisal2b	G	T	13: 104,994,814 (GRCm39)	T111K	probably benign	Het
Slc22a22	G	A	15: 57,113,045 (GRCm39)	T398I	probably benign	Het
Slc40a1	T	A	1: 45,950,688 (GRCm39)	T255S	probably benign	Het
Smchd1	A	T	17: 71,672,214 (GRCm39)		probably null	Het
Soat1	A	T	1: 156,259,901 (GRCm39)	V480D	probably damaging	Het
Spata31e2	A	G	1: 26,722,546 (GRCm39)	L878P	possibly damaging	Het
Supt5	T	A	7: 28,030,914 (GRCm39)	E39V	unknown	Het
Tapbpl	T	C	6: 125,203,451 (GRCm39)		probably null	Het
Tdpoz7	T	A	3: 93,979,939 (GRCm39)	M5L	probably benign	Het
Tlr11	A	T	14: 50,600,113 (GRCm39)	I700F	probably damaging	Het
Tmc3	A	T	7: 83,271,353 (GRCm39)	K864M	possibly damaging	Het
Tns1	G	A	1: 73,964,621 (GRCm39)	P81S	probably benign	Het
Unc13d	C	A	11: 115,955,633 (GRCm39)	S885I	probably benign	Het
Unc45a	A	T	7: 79,976,082 (GRCm39)	M799K	possibly damaging	Het
Usp34	A	G	11: 23,313,097 (GRCm39)	D547G		Het
Vps33b	A	G	7: 79,925,837 (GRCm39)	I95V	probably benign	Het

Other mutations in Tspan2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Tspan2	APN	3	102,665,549 (GRCm39)	critical splice donor site	probably null
IGL02341:Tspan2	APN	3	102,672,529 (GRCm39)	missense	probably damaging	1.00
R0336:Tspan2	UTSW	3	102,642,343 (GRCm39)	missense	probably null	0.00
R0399:Tspan2	UTSW	3	102,666,701 (GRCm39)	missense	probably damaging	1.00
R1732:Tspan2	UTSW	3	102,676,193 (GRCm39)	missense	probably damaging	1.00
R5118:Tspan2	UTSW	3	102,657,151 (GRCm39)	missense	probably benign	0.17
R5229:Tspan2	UTSW	3	102,676,215 (GRCm39)	missense	probably damaging	1.00
R7431:Tspan2	UTSW	3	102,657,107 (GRCm39)	missense	probably damaging	1.00
R8343:Tspan2	UTSW	3	102,676,226 (GRCm39)	missense	probably damaging	1.00
R9562:Tspan2	UTSW	3	102,672,583 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCAGAAATAGCAGTTTGGGCC -3'
(R):5'- TGACCCATCATTCCCAGAGTATG -3'

Sequencing Primer
(F):5'- ATAGCAGTTTGGGCCTCAGAGC -3'
(R):5'- TCATTCCCAGAGTATGAGGAACCTG -3'

Posted On

2019-05-15