Mutagenetix > Incidental Mutation

Incidental Mutation 'R6199:Tns2'

503122

Institutional Source

Beutler Lab

Gene Symbol

Tns2

Ensembl Gene

ENSMUSG00000037003

Gene Name

tensin 2

Synonyms

nep, Tenc1, nph

MMRRC Submission

044339-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6199 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102008848-102024836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102017369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 281 (R281C)

Ref Sequence

ENSEMBL: ENSMUSP00000155830 (fasta)

Gene Model

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

AlphaFold

Q8CGB6

Predicted Effect

probably damaging
Transcript: ENSMUST00000046144
AA Change: R281C

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

SMART Domains

Protein: ENSMUSP00000041087
Gene: ENSMUSG00000037003
AA Change: R281C

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: R281C

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

SMART Domains

Protein: ENSMUSP00000129146
Gene: ENSMUSG00000037003
AA Change: R281C

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: R281C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229035

Predicted Effect

probably benign
Transcript: ENSMUST00000229592

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229908

Predicted Effect

probably damaging
Transcript: ENSMUST00000230474
AA Change: R273C

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

Meta Mutation Damage Score

0.2021

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	T	12: 88,407,887 (GRCm39)	D206V	possibly damaging	Het
Ank2	T	A	3: 126,797,655 (GRCm39)	D685V	probably damaging	Het
Baz2b	A	G	2: 59,809,019 (GRCm39)	S77P	probably benign	Het
Ccdc194	T	C	8: 71,978,109 (GRCm39)	N83D	probably benign	Het
Ceacam5	A	T	7: 17,448,810 (GRCm39)	T59S	probably benign	Het
Cemip2	G	A	19: 21,822,186 (GRCm39)	G1194S	probably benign	Het
Ces1e	A	C	8: 93,944,163 (GRCm39)	F218L	probably damaging	Het
Cilk1	T	C	9: 78,071,921 (GRCm39)	V531A	probably benign	Het
Cps1	TGTCCATTGGTC	TGTC	1: 67,201,774 (GRCm39)		probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Eftud2	A	T	11: 102,730,883 (GRCm39)	V843E	probably damaging	Het
Fuca2	G	T	10: 13,381,783 (GRCm39)	W232L	probably damaging	Het
Gdf7	T	C	12: 8,348,832 (GRCm39)	D155G	unknown	Het
Ggcx	G	T	6: 72,407,122 (GRCm39)	V753F	possibly damaging	Het
Ghrhr	A	T	6: 55,356,173 (GRCm39)	T89S	probably benign	Het
Gpr151	T	C	18: 42,711,619 (GRCm39)	K353R	probably benign	Het
Gpr75	T	C	11: 30,841,527 (GRCm39)	L144P	probably damaging	Het
Gsdmc2	A	G	15: 63,696,962 (GRCm39)	I403T	probably benign	Het
H2-M1	A	G	17: 36,982,059 (GRCm39)	S181P	probably benign	Het
Igsf5	C	T	16: 96,222,939 (GRCm39)	S61L	possibly damaging	Het
Insc	A	T	7: 114,390,401 (GRCm39)		probably null	Het
Izumo4	G	A	10: 80,538,707 (GRCm39)	G53D	probably damaging	Het
Ksr1	G	A	11: 78,911,267 (GRCm39)	P693S	possibly damaging	Het
Lgals4	G	A	7: 28,535,317 (GRCm39)	R27H	probably damaging	Het
Lpcat2b	A	G	5: 107,581,171 (GRCm39)	R167G	probably benign	Het
Man1a	C	T	10: 53,890,552 (GRCm39)	V288I	possibly damaging	Het
Map2	T	G	1: 66,464,637 (GRCm39)	S1676A	probably damaging	Het
Mbl1	G	T	14: 40,875,572 (GRCm39)	V9F	unknown	Het
Mrgprb8	T	A	7: 48,039,051 (GRCm39)	C241S	probably benign	Het
Mrpl2	T	C	17: 46,960,012 (GRCm39)	L227P	probably damaging	Het
Mthfd1	T	A	12: 76,335,685 (GRCm39)	V253E	probably damaging	Het
Mthfd1	A	G	12: 76,350,454 (GRCm39)	H464R	probably damaging	Het
Mug2	T	A	6: 122,024,398 (GRCm39)	M490K	probably benign	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Notch1	A	G	2: 26,359,911 (GRCm39)	V1268A	probably damaging	Het
Or6b2b	A	T	1: 92,419,264 (GRCm39)	I71N	possibly damaging	Het
Or8b12c	C	A	9: 37,716,177 (GRCm39)		probably null	Het
Pgm1	A	T	4: 99,836,151 (GRCm39)	I412F	probably damaging	Het
Plaur	A	T	7: 24,164,628 (GRCm39)	Q44L	possibly damaging	Het
Ppara	T	C	15: 85,671,434 (GRCm39)	Y112H	probably damaging	Het
Ppm1h	G	A	10: 122,756,644 (GRCm39)	V430M	probably damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Prph	A	G	15: 98,954,713 (GRCm39)	T35A	probably benign	Het
Prrc2c	C	T	1: 162,510,085 (GRCm39)	G780S	probably damaging	Het
Ptchd3	T	A	11: 121,721,908 (GRCm39)	N260K	probably benign	Het
Ptprz1	A	G	6: 23,002,470 (GRCm39)	D1520G	probably benign	Het
Samd9l	T	A	6: 3,376,686 (GRCm39)	I192L	probably benign	Het
Slc39a10	T	C	1: 46,874,993 (GRCm39)	D103G	probably damaging	Het
Smndc1	G	A	19: 53,372,063 (GRCm39)	T117M	probably benign	Het
Tesk2	A	G	4: 116,649,367 (GRCm39)	D159G	probably damaging	Het
Vmn2r108	A	T	17: 20,682,644 (GRCm39)	N853K	probably benign	Het
Wdfy3	C	T	5: 102,020,831 (GRCm39)	R2491Q	possibly damaging	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
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'- AGAGGATCTCATGATTCCTCCTTC -3'
(R):5'- CCTGTGGAGTCTTTCTTACAAGC -3'

Sequencing Primer
(F):5'- CCTTCCCTGGGGTTTAGGTATAGAAG -3'
(R):5'- GCCAGAACGATCTAGTCTGTTTACG -3'

Posted On

2018-02-27