Mutagenetix > Incidental Mutation

Incidental Mutation 'R5253:Tns2'

399270

Institutional Source

Beutler Lab

Gene Symbol

Tns2

Ensembl Gene

ENSMUSG00000037003

Gene Name

tensin 2

Synonyms

nep, Tenc1, nph

MMRRC Submission

042824-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5253 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102008848-102024836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102019888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 585 (S585P)

Ref Sequence

ENSEMBL: ENSMUSP00000155309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046144] [ENSMUST00000169627] [ENSMUST00000228958] [ENSMUST00000229592] [ENSMUST00000230474]

AlphaFold

Q8CGB6

Predicted Effect

probably damaging
Transcript: ENSMUST00000046144
AA Change: S593P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000041087
Gene: ENSMUSG00000037003
AA Change: S593P

Domain	Start	End	E-Value	Type
C1	32	79	2.78e-9	SMART
SCOP:d1d5ra2	128	295	8e-24	SMART
PTEN_C2	297	424	6.63e-40	SMART
low complexity region	494	513	N/A	INTRINSIC
SH2	1136	1236	1.69e-16	SMART
PTB	1269	1407	6.66e-28	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169627
AA Change: S593P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129146
Gene: ENSMUSG00000037003
AA Change: S593P

Domain	Start	End	E-Value	Type
C1	32	79	2.78e-9	SMART
SCOP:d1d5ra2	128	295	8e-24	SMART
PTEN_C2	297	424	6.63e-40	SMART
low complexity region	494	513	N/A	INTRINSIC
SH2	1129	1229	1.69e-16	SMART
PTB	1262	1400	6.66e-28	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000228958
AA Change: S593P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229097

Predicted Effect

probably benign
Transcript: ENSMUST00000229592

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229800

Predicted Effect

probably damaging
Transcript: ENSMUST00000230474
AA Change: S585P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229908

Meta Mutation Damage Score

0.0767

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the tensin family. Tensin is a focal adhesion molecule that binds to actin filaments and participates in signaling pathways. This protein plays a role in regulating cell migration. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Affected mice homozygous for a spontaneous deletion show reduced female fertility, increased blood urea nitrogen, low hematocrit, proteinuria, hypoproteinemia, hypercholesterolemia, small kidneys with a yellowish granular surface, glomerular lesions and premature death; some develop systemic edema. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	T	C	9: 39,962,746 (GRCm39)		noncoding transcript	Het
Actrt2	A	C	4: 154,752,026 (GRCm39)	S37A	possibly damaging	Het
Adcy7	T	C	8: 89,040,742 (GRCm39)	I327T	probably damaging	Het
Ankrd13b	A	G	11: 77,364,061 (GRCm39)		probably benign	Het
Arap1	A	C	7: 101,037,851 (GRCm39)	I237L	probably benign	Het
Arhgap17	A	T	7: 122,902,971 (GRCm39)	Y359N	probably benign	Het
Atad1	A	G	19: 32,651,702 (GRCm39)	M343T	probably benign	Het
Cacna1b	A	T	2: 24,609,964 (GRCm39)	I392N	probably damaging	Het
Cacna1c	A	G	6: 118,574,930 (GRCm39)	S1914P	probably benign	Het
Cd300a	G	T	11: 114,785,577 (GRCm39)	R174L	probably benign	Het
Dip2a	G	A	10: 76,135,831 (GRCm39)	P356L	probably damaging	Het
Dsg1c	T	C	18: 20,405,436 (GRCm39)	L283P	probably damaging	Het
Dusp1	T	C	17: 26,727,191 (GRCm39)	N36S	probably benign	Het
Dync2i2	T	A	2: 29,922,375 (GRCm39)		probably benign	Het
Ercc3	C	A	18: 32,402,917 (GRCm39)	P776Q	probably damaging	Het
Etv1	A	G	12: 38,902,248 (GRCm39)	R260G	possibly damaging	Het
Fa2h	C	G	8: 112,075,869 (GRCm39)	M251I	probably benign	Het
Fcsk	T	C	8: 111,610,499 (GRCm39)	E968G	possibly damaging	Het
Flg2	A	G	3: 93,108,119 (GRCm39)	D49G	probably damaging	Het
Fras1	A	G	5: 96,888,884 (GRCm39)	E2810G	probably damaging	Het
Gabbr1	T	C	17: 37,366,805 (GRCm39)	F343S	possibly damaging	Het
Gdf2	A	G	14: 33,667,264 (GRCm39)	T329A	probably benign	Het
Hcn4	T	A	9: 58,731,558 (GRCm39)	I255N	unknown	Het
Hk3	T	G	13: 55,158,824 (GRCm39)	D485A	probably damaging	Het
Hook3	T	C	8: 26,562,319 (GRCm39)	T249A	probably benign	Het
Kcp	C	T	6: 29,498,519 (GRCm39)		probably benign	Het
Kifc2	G	T	15: 76,550,481 (GRCm39)	R515L	possibly damaging	Het
Kiss1r	A	G	10: 79,756,584 (GRCm39)	Y142C	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Klrb1a	T	A	6: 128,596,126 (GRCm39)	I72L	probably benign	Het
Lep	T	A	6: 29,070,862 (GRCm39)	F62Y	probably damaging	Het
Lrtm1	A	G	14: 28,743,801 (GRCm39)	T90A	probably benign	Het
Mug1	A	T	6: 121,865,872 (GRCm39)	D1472V	probably benign	Het
Ncor2	G	T	5: 125,103,994 (GRCm39)	P1988Q	probably benign	Het
Nlrp4a	C	T	7: 26,149,917 (GRCm39)	S508L	probably benign	Het
Obp2b	T	A	2: 25,627,155 (GRCm39)	D29E	probably benign	Het
Or10ag2	G	A	2: 87,249,012 (GRCm39)	V207M	possibly damaging	Het
Or4c109	A	G	2: 88,818,444 (GRCm39)	L34P	possibly damaging	Het
Or4c119	A	T	2: 88,986,801 (GRCm39)	C239*	probably null	Het
Or4k15b	T	C	14: 50,272,745 (GRCm39)	I38M	possibly damaging	Het
Or6c3b	A	G	10: 129,527,601 (GRCm39)	I103T	probably damaging	Het
Otof	A	G	5: 30,527,483 (GRCm39)	S1985P	probably damaging	Het
Oxct2a	A	T	4: 123,216,886 (GRCm39)	V165E	probably damaging	Het
Pcdhgb7	T	C	18: 37,886,150 (GRCm39)	V440A	possibly damaging	Het
Pelp1	C	A	11: 70,292,487 (GRCm39)	G211C	probably damaging	Het
Phox2a	A	G	7: 101,471,312 (GRCm39)	H268R	probably benign	Het
Pik3c2g	T	C	6: 139,841,983 (GRCm39)		probably null	Het
Pramel1	T	A	4: 143,125,156 (GRCm39)	M360K	probably benign	Het
Rbm6	C	T	9: 107,729,856 (GRCm39)	R132K	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc45a1	T	C	4: 150,722,727 (GRCm39)	T386A	probably damaging	Het
Smad2	A	G	18: 76,421,124 (GRCm39)	Y151C	probably damaging	Het
Sptbn2	G	A	19: 4,800,110 (GRCm39)	G2188D	probably benign	Het
Sugt1	G	A	14: 79,840,341 (GRCm39)		probably null	Het
Tctn3	T	C	19: 40,595,685 (GRCm39)	S367G	probably benign	Het
Tead1	G	T	7: 112,460,752 (GRCm39)	D219Y	probably damaging	Het
Tenm2	G	T	11: 35,938,028 (GRCm39)	Y1548*	probably null	Het
Tenm3	T	A	8: 48,682,233 (GRCm39)	I2466F	possibly damaging	Het
Tent4b	C	A	8: 88,926,651 (GRCm39)	H20Q	possibly damaging	Het
Tgm2	G	A	2: 157,971,358 (GRCm39)	P294S	probably damaging	Het
Ttc41	A	G	10: 86,566,806 (GRCm39)	K491E	probably benign	Het
Ttn	G	A	2: 76,621,895 (GRCm39)	T15549I	probably damaging	Het
Vmn1r157	T	C	7: 22,461,183 (GRCm39)	L21P	probably damaging	Het
Vmn2r81	A	G	10: 79,083,820 (GRCm39)	M65V	probably benign	Het
Zcchc14	T	C	8: 122,345,433 (GRCm39)		probably benign	Het

Other mutations in Tns2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01575:Tns2	APN	15	102,021,626 (GRCm39)	missense	probably damaging	1.00
IGL01935:Tns2	APN	15	102,020,069 (GRCm39)	splice site	probably null
IGL01994:Tns2	APN	15	102,019,814 (GRCm39)	missense	possibly damaging	0.81
IGL02025:Tns2	APN	15	102,020,484 (GRCm39)	nonsense	probably null
IGL02135:Tns2	APN	15	102,021,461 (GRCm39)	missense	probably damaging	1.00
IGL02355:Tns2	APN	15	102,020,725 (GRCm39)	missense	probably benign
IGL02362:Tns2	APN	15	102,020,725 (GRCm39)	missense	probably benign
IGL02439:Tns2	APN	15	102,022,978 (GRCm39)	missense	probably damaging	1.00
IGL02488:Tns2	APN	15	102,021,178 (GRCm39)	missense	probably benign
IGL02546:Tns2	APN	15	102,019,375 (GRCm39)	missense	probably damaging	1.00
IGL02616:Tns2	APN	15	102,019,850 (GRCm39)	missense	probably benign
IGL02628:Tns2	APN	15	102,020,263 (GRCm39)	missense	probably benign	0.04
IGL02658:Tns2	APN	15	102,016,231 (GRCm39)	splice site	probably benign
IGL03267:Tns2	APN	15	102,013,813 (GRCm39)	critical splice donor site	probably null
P0005:Tns2	UTSW	15	102,022,491 (GRCm39)	missense	probably damaging	0.98
R0586:Tns2	UTSW	15	102,018,020 (GRCm39)	splice site	probably benign
R0791:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R0817:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R0818:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R0819:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R0820:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R1451:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R1452:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R1453:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R1454:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R1455:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R1487:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R1510:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R1579:Tns2	UTSW	15	102,019,645 (GRCm39)	missense	probably damaging	1.00
R1698:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R1772:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R1779:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R1843:Tns2	UTSW	15	102,021,568 (GRCm39)	splice site	probably null
R1923:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R1924:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R1927:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R1980:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R2051:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R2087:Tns2	UTSW	15	102,015,554 (GRCm39)	missense	possibly damaging	0.70
R2100:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R2103:Tns2	UTSW	15	102,021,100 (GRCm39)	critical splice acceptor site	probably null
R2105:Tns2	UTSW	15	102,015,941 (GRCm39)	missense	probably benign	0.27
R2224:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R2225:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R2227:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R2252:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R2253:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R2290:Tns2	UTSW	15	102,020,458 (GRCm39)	missense	probably damaging	0.99
R2304:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R2318:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R2446:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R2447:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R2448:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R2566:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R2567:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R2897:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R2898:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R3159:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R3160:Tns2	UTSW	15	102,021,771 (GRCm39)	missense	possibly damaging	0.88
R3162:Tns2	UTSW	15	102,021,771 (GRCm39)	missense	possibly damaging	0.88
R3162:Tns2	UTSW	15	102,021,771 (GRCm39)	missense	possibly damaging	0.88
R3196:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R3237:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R3426:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R3427:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R3428:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R3695:Tns2	UTSW	15	102,021,184 (GRCm39)	missense	probably null
R3767:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R3911:Tns2	UTSW	15	102,022,272 (GRCm39)	critical splice donor site	probably null
R4113:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R4157:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R4394:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R4395:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R4396:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R4439:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R4441:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R4537:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R4538:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R4541:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R4599:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R4600:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R4602:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R4773:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R4774:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R4775:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R4776:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R4880:Tns2	UTSW	15	102,020,474 (GRCm39)	missense	probably damaging	0.98
R4989:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R5014:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R5058:Tns2	UTSW	15	102,016,295 (GRCm39)	missense	possibly damaging	0.68
R5336:Tns2	UTSW	15	102,019,664 (GRCm39)	missense	probably damaging	1.00
R5351:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R5452:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R5453:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R5629:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R5630:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R5631:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R5685:Tns2	UTSW	15	102,015,538 (GRCm39)	missense	probably benign	0.02
R5844:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R6048:Tns2	UTSW	15	102,019,846 (GRCm39)	missense	probably damaging	1.00
R6067:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R6079:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R6130:Tns2	UTSW	15	102,019,676 (GRCm39)	missense	probably damaging	1.00
R6136:Tns2	UTSW	15	102,015,465 (GRCm39)	missense	probably damaging	1.00
R6138:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R6199:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R6210:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
R6426:Tns2	UTSW	15	102,015,472 (GRCm39)	missense	possibly damaging	0.65
R6544:Tns2	UTSW	15	102,022,269 (GRCm39)	missense	possibly damaging	0.93
R6594:Tns2	UTSW	15	102,018,994 (GRCm39)	missense	probably benign	0.00
R6596:Tns2	UTSW	15	102,018,994 (GRCm39)	missense	probably benign	0.00
R6734:Tns2	UTSW	15	102,011,551 (GRCm39)	missense	probably damaging	0.96
R7061:Tns2	UTSW	15	102,012,914 (GRCm39)	start codon destroyed	probably null
R7070:Tns2	UTSW	15	102,012,968 (GRCm39)	missense	possibly damaging	0.58
R7110:Tns2	UTSW	15	102,013,801 (GRCm39)	missense	probably damaging	0.99
R7410:Tns2	UTSW	15	102,018,961 (GRCm39)	missense	probably damaging	1.00
R7447:Tns2	UTSW	15	102,019,351 (GRCm39)	missense	probably damaging	1.00
R7751:Tns2	UTSW	15	102,018,163 (GRCm39)	missense	probably benign	0.02
R8052:Tns2	UTSW	15	102,021,280 (GRCm39)	missense	probably damaging	1.00
R8114:Tns2	UTSW	15	102,019,825 (GRCm39)	missense	probably benign	0.01
R8906:Tns2	UTSW	15	102,020,039 (GRCm39)	missense	probably damaging	1.00
R8964:Tns2	UTSW	15	102,011,553 (GRCm39)	missense	possibly damaging	0.73
R9192:Tns2	UTSW	15	102,021,416 (GRCm39)	missense	probably damaging	1.00
R9273:Tns2	UTSW	15	102,021,478 (GRCm39)	missense	probably damaging	1.00
R9307:Tns2	UTSW	15	102,018,996 (GRCm39)	missense	probably damaging	0.97
R9402:Tns2	UTSW	15	102,021,623 (GRCm39)	missense	probably damaging	0.99
R9612:Tns2	UTSW	15	102,015,577 (GRCm39)	missense	probably damaging	1.00
R9655:Tns2	UTSW	15	102,012,933 (GRCm39)	missense	probably benign	0.03
U15987:Tns2	UTSW	15	102,017,369 (GRCm39)	missense	probably damaging	1.00
X0009:Tns2	UTSW	15	102,020,900 (GRCm39)	missense	possibly damaging	0.94
X0026:Tns2	UTSW	15	102,018,937 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGCTGCTGAAAGACAGG -3'
(R):5'- TAGCCAAAGTCCCCATTGG -3'

Sequencing Primer
(F):5'- ACAGGAGCTGGATCGTCTG -3'
(R):5'- AAAGTCCCCATTGGCTGGTTTC -3'

Posted On

2016-07-06