Mutagenetix > Incidental Mutation

Incidental Mutation 'R8114:Tns2'

631084

Institutional Source

Beutler Lab

Gene Symbol

Tns2

Ensembl Gene

ENSMUSG00000037003

Gene Name

tensin 2

Synonyms

nep, Tenc1, nph

MMRRC Submission

067543-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102008848-102024836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 102019825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 572 (V572L)

Ref Sequence

ENSEMBL: ENSMUSP00000129146 (fasta)

Gene Model

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

AlphaFold

Q8CGB6

Predicted Effect

probably benign
Transcript: ENSMUST00000046144
AA Change: V572L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000041087
Gene: ENSMUSG00000037003
AA Change: V572L

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 benign
Transcript: ENSMUST00000169627
AA Change: V572L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000129146
Gene: ENSMUSG00000037003
AA Change: V572L

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 benign
Transcript: ENSMUST00000228958
AA Change: V572L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000229592

Predicted Effect

probably benign
Transcript: ENSMUST00000230474
AA Change: V564L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0608

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.7%

Validation Efficiency

100% (64/64)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	G	T	16: 14,407,091 (GRCm39)	E7*	probably null	Het
Abca7	T	C	10: 79,844,874 (GRCm39)	I1532T	probably damaging	Het
Adam12	T	C	7: 133,569,617 (GRCm39)	D286G	probably damaging	Het
Ahnak2	T	C	12: 112,741,163 (GRCm39)	T970A	probably benign	Het
Apcdd1	A	G	18: 63,083,127 (GRCm39)	N319S	probably damaging	Het
Arih1	A	G	9: 59,303,836 (GRCm39)	M423T	probably benign	Het
Ccdc110	A	T	8: 46,396,140 (GRCm39)	Q677L	probably damaging	Het
Ccdc121rt3	C	A	5: 112,503,563 (GRCm39)	R47L	probably benign	Het
Ccdc171	A	G	4: 83,614,537 (GRCm39)	N1046S	probably damaging	Het
Ccdc63	G	T	5: 122,251,244 (GRCm39)	Q389K	possibly damaging	Het
Cd274	T	C	19: 29,361,528 (GRCm39)	S279P	probably damaging	Het
Cdcp2	A	T	4: 106,962,555 (GRCm39)	I243F	probably damaging	Het
Cfap298	T	C	16: 90,731,545 (GRCm39)	T22A	probably benign	Het
Cul2	A	T	18: 3,426,164 (GRCm39)	K414*	probably null	Het
Daglb	A	G	5: 143,464,218 (GRCm39)	H243R	probably benign	Het
Dnah5	A	T	15: 28,240,122 (GRCm39)	Y493F	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Eea1	G	T	10: 95,830,851 (GRCm39)	E171*	probably null	Het
Eml6	C	T	11: 29,704,910 (GRCm39)	G1545R	probably damaging	Het
Epg5	A	G	18: 78,073,365 (GRCm39)	I2463V	probably benign	Het
Fgl1	A	G	8: 41,644,620 (GRCm39)	Y295H	probably damaging	Het
Frrs1	A	G	3: 116,675,425 (GRCm39)	T118A	probably damaging	Het
Gdi2	T	C	13: 3,598,906 (GRCm39)	V30A	probably damaging	Het
Ints4	A	G	7: 97,165,732 (GRCm39)		probably null	Het
Iqsec3	A	G	6: 121,390,458 (GRCm39)	S338P	unknown	Het
Klhl3	C	T	13: 58,161,677 (GRCm39)	V473M	possibly damaging	Het
Ldah	A	G	12: 8,334,039 (GRCm39)	E310G	probably damaging	Het
Mtnr1b	A	G	9: 15,785,563 (GRCm39)	V65A	probably damaging	Het
Myo7b	G	T	18: 32,098,677 (GRCm39)	T1735K	probably damaging	Het
Neb	A	T	2: 52,215,734 (GRCm39)	V191D	possibly damaging	Het
Oas1e	T	C	5: 120,924,708 (GRCm39)	T377A	unknown	Het
Odr4	A	T	1: 150,264,308 (GRCm39)	L67*	probably null	Het
Or10al6	T	C	17: 38,082,880 (GRCm39)	F112S	possibly damaging	Het
Or10v9	G	A	19: 11,832,466 (GRCm39)	P284S	probably damaging	Het
Or8k53	A	T	2: 86,177,530 (GRCm39)	H193Q	probably benign	Het
Platr25	T	C	13: 62,821,738 (GRCm39)	S70G	possibly damaging	Het
Plcl2	T	C	17: 50,994,815 (GRCm39)	S1095P	probably damaging	Het
Polq	A	G	16: 36,862,577 (GRCm39)	K637E	possibly damaging	Het
Rbm47	T	C	5: 66,184,196 (GRCm39)	I136V	probably benign	Het
Serpinb3c	A	C	1: 107,204,034 (GRCm39)	N59K	probably benign	Het
Shcbp1	T	A	8: 4,817,930 (GRCm39)	N122Y	probably damaging	Het
Sim2	T	C	16: 93,923,503 (GRCm39)	V347A	probably benign	Het
Slc22a30	A	T	19: 8,381,904 (GRCm39)	Y122*	probably null	Het
Slc34a2	G	A	5: 53,225,701 (GRCm39)	S450N	probably benign	Het
Snx17	A	T	5: 31,355,046 (GRCm39)	M354L	probably benign	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Surf6	G	A	2: 26,782,380 (GRCm39)	Q316*	probably null	Het
Tiprl	A	G	1: 165,055,991 (GRCm39)	S44P	probably benign	Het
Tmem39a	T	G	16: 38,411,359 (GRCm39)	L438R	probably damaging	Het
Tmem39a	C	A	16: 38,411,358 (GRCm39)	L438M	probably damaging	Het
Trdn	T	C	10: 32,959,624 (GRCm39)		probably benign	Het
Trpc7	T	C	13: 56,952,411 (GRCm39)	I587V	probably benign	Het
Usp47	A	G	7: 111,692,394 (GRCm39)	D952G	probably damaging	Het
Vmn2r58	A	T	7: 41,511,392 (GRCm39)	N470K	probably damaging	Het
Vmn2r67	A	T	7: 84,805,097 (GRCm39)	I5N	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Ythdc2	A	G	18: 45,010,807 (GRCm39)	D1272G	probably benign	Het
Zfp959	A	G	17: 56,205,496 (GRCm39)	Y511C	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
R5253:Tns2	UTSW	15	102,019,888 (GRCm39)	missense	probably damaging	1.00
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
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'- TGGATGGCAGTCCTTATGCC -3'
(R):5'- TCTGACAGTGACCTGCAGAG -3'

Sequencing Primer
(F):5'- AGTCCTTATGCCCAGGTGCAG -3'
(R):5'- AGGCGTCTCTTCTCCACAGAG -3'

Posted On

2020-06-30