Mutagenetix > Incidental Mutation

Incidental Mutation 'R9402:Tns2'

711314

Institutional Source

Beutler Lab

Gene Symbol

Tns2

Ensembl Gene

ENSMUSG00000037003

Gene Name

tensin 2

Synonyms

nep, Tenc1, nph

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9402 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102008848-102024836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102021623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1096 (H1096R)

Ref Sequence

ENSEMBL: ENSMUSP00000129146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046144] [ENSMUST00000154032] [ENSMUST00000169627] [ENSMUST00000228958] [ENSMUST00000230474]

AlphaFold

Q8CGB6

Predicted Effect

probably damaging
Transcript: ENSMUST00000046144
AA Change: H1103R

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

SMART Domains

Protein: ENSMUSP00000041087
Gene: ENSMUSG00000037003
AA Change: H1103R

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: ENSMUST00000154032

SMART Domains

Protein: ENSMUSP00000121493
Gene: ENSMUSG00000036966

Domain	Start	End	E-Value	Type
low complexity region	28	38	N/A	INTRINSIC
SPRY	76	201	1.66e-11	SMART
SPRY	256	441	3.28e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169627
AA Change: H1096R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129146
Gene: ENSMUSG00000037003
AA Change: H1096R

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: H1096R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230474
AA Change: H1088R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,049,154 (GRCm39)	Q218L	probably benign	Het
Atg2b	A	G	12: 105,614,682 (GRCm39)	F1083S	probably damaging	Het
Bche	T	C	3: 73,608,656 (GRCm39)	N257D	probably benign	Het
Cfap221	T	A	1: 119,860,551 (GRCm39)	M692L	probably benign	Het
Cfap46	G	T	7: 139,215,865 (GRCm39)	P1530Q	unknown	Het
Crim1	CCGC	CC	17: 78,658,294 (GRCm39)		probably null	Het
Cyp4f39	T	C	17: 32,710,183 (GRCm39)		probably null	Het
Daam1	A	G	12: 72,006,604 (GRCm39)	T674A	probably benign	Het
Elp2	A	T	18: 24,759,220 (GRCm39)	I526L	probably benign	Het
Exoc4	T	A	6: 33,453,078 (GRCm39)	*523K	probably null	Het
Fbxl7	G	A	15: 26,552,589 (GRCm39)	S226L	probably damaging	Het
Fbxl9	T	A	8: 106,049,988 (GRCm39)	Y12F	probably benign	Het
Fry	G	A	5: 150,357,161 (GRCm39)	E1903K	possibly damaging	Het
Fry	G	A	5: 150,360,318 (GRCm39)	R1988K	probably damaging	Het
Gas1	A	T	13: 60,324,016 (GRCm39)	M206K	probably damaging	Het
Gbp10	T	A	5: 105,381,863 (GRCm39)	T96S	possibly damaging	Het
Gm14569	G	A	X: 35,694,549 (GRCm39)	P1387S	probably damaging	Het
Gpaa1	A	G	15: 76,216,418 (GRCm39)	T105A	probably benign	Het
Hoxc13	C	A	15: 102,830,051 (GRCm39)	C143*	probably null	Het
Htt	T	C	5: 35,006,324 (GRCm39)	I1411T	probably damaging	Het
Inava	T	G	1: 136,155,348 (GRCm39)	S86R	probably benign	Het
Jmy	C	T	13: 93,635,678 (GRCm39)	C46Y	probably damaging	Het
Klhl40	A	G	9: 121,609,482 (GRCm39)	Y453C	possibly damaging	Het
Krit1	T	A	5: 3,872,210 (GRCm39)	Y460N	possibly damaging	Het
Lamb3	C	A	1: 193,013,704 (GRCm39)	T526K		Het
Luzp1	T	A	4: 136,270,493 (GRCm39)	H905Q	probably damaging	Het
Lyst	T	A	13: 13,812,463 (GRCm39)	H958Q	probably benign	Het
Magi1	T	C	6: 94,260,278 (GRCm39)	N9S	probably benign	Het
Mmadhc	A	T	2: 50,171,119 (GRCm39)	V231E	probably benign	Het
Muc5b	T	A	7: 141,399,151 (GRCm39)	M364K	unknown	Het
Nae1	A	G	8: 105,254,817 (GRCm39)		probably null	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Nlgn2	A	G	11: 69,718,933 (GRCm39)	F252S		Het
Nlrp9a	A	T	7: 26,270,030 (GRCm39)	N874I	possibly damaging	Het
Nodal	T	C	10: 61,259,379 (GRCm39)	I272T	probably damaging	Het
Or4a15	C	A	2: 89,193,123 (GRCm39)	G217*	probably null	Het
Or4c12	A	T	2: 89,774,284 (GRCm39)	Y58*	probably null	Het
Or51a24	G	A	7: 103,733,610 (GRCm39)	R226*	probably null	Het
Or52ab4	T	C	7: 102,988,196 (GRCm39)	S312P	probably benign	Het
Orm1	C	A	4: 63,263,369 (GRCm39)	Q61K	possibly damaging	Het
Pcdh17	T	C	14: 84,684,646 (GRCm39)	V371A	probably damaging	Het
Pcdhb19	C	T	18: 37,632,532 (GRCm39)	Q776*	probably null	Het
Phf14	A	G	6: 11,933,779 (GRCm39)	R214G	possibly damaging	Het
Phf3	G	A	1: 30,850,928 (GRCm39)	T1142M	probably damaging	Het
Pigz	A	G	16: 31,764,187 (GRCm39)	E415G	probably damaging	Het
Pramel5	T	C	4: 143,998,026 (GRCm39)	T406A	probably benign	Het
Prtg	A	G	9: 72,819,253 (GRCm39)	E1082G	probably benign	Het
Rtp3	A	G	9: 110,815,031 (GRCm39)	C445R	unknown	Het
Scn3b	A	T	9: 40,193,852 (GRCm39)	E193V	probably damaging	Het
Scn7a	A	T	2: 66,510,456 (GRCm39)	N1315K	probably damaging	Het
Snx14	C	T	9: 88,289,490 (GRCm39)	G254D	probably damaging	Het
Srbd1	T	C	17: 86,406,705 (GRCm39)	D560G	probably benign	Het
Srp72	T	A	5: 77,124,329 (GRCm39)	L65*	probably null	Het
Steap1	T	A	5: 5,790,664 (GRCm39)	I95F		Het
Taf3	A	G	2: 9,955,923 (GRCm39)		probably null	Het
Taok2	T	C	7: 126,469,400 (GRCm39)	N1143D		Het
Tas2r114	C	T	6: 131,666,894 (GRCm39)	G45S	possibly damaging	Het
Tcerg1l	T	C	7: 137,811,551 (GRCm39)	K548E	probably damaging	Het
Tcp1	T	A	17: 13,141,505 (GRCm39)	L328Q	probably benign	Het
Trps1	A	T	15: 50,709,652 (GRCm39)	Y233N	probably damaging	Het
Tubgcp6	A	G	15: 88,987,064 (GRCm39)	V1303A	probably benign	Het
Ugt1a2	T	C	1: 88,128,684 (GRCm39)	F109S	possibly damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Zfp748	A	G	13: 67,693,511 (GRCm39)	V54A	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
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
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'- GGCACTTCAGATAGCCCAGATG -3'
(R):5'- CAAACTTGACATTGCTTTGGTTCTC -3'

Sequencing Primer
(F):5'- TGTGCCTACCCAGATGCC -3'
(R):5'- CTCTTGTAAAGGGTGTTCTAGAAGAG -3'

Posted On

2022-05-16