Incidental Mutation 'R2252:Tns2'
ID 241775
Institutional Source Beutler Lab
Gene Symbol Tns2
Ensembl Gene ENSMUSG00000037003
Gene Name tensin 2
Synonyms nep, Tenc1, nph
MMRRC Submission 040252-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2252 (G1)
Quality Score 225
Status Not validated
Chromosome 15
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,380,061 (GRCm39) S79F probably damaging Het
Acaca G T 11: 84,262,358 (GRCm39) V1987L probably damaging Het
B3gnt3 A T 8: 72,145,462 (GRCm39) M302K probably damaging Het
BC048507 T C 13: 68,011,626 (GRCm39) M1T probably null Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Casp3 G T 8: 47,090,990 (GRCm39) W214L probably damaging Het
Cd180 A T 13: 102,842,906 (GRCm39) K651* probably null Het
Cdh15 T A 8: 123,584,161 (GRCm39) D87E probably damaging Het
Cldn24 G T 8: 48,275,363 (GRCm39) R62S probably benign Het
Cnot1 A G 8: 96,489,814 (GRCm39) V463A probably benign Het
Cspg4 C T 9: 56,805,330 (GRCm39) T2047I probably damaging Het
Cul2 A T 18: 3,399,876 (GRCm39) L3F probably damaging Het
Cwc27 A T 13: 104,768,237 (GRCm39) H419Q probably damaging Het
Dgkg A T 16: 22,441,010 (GRCm39) M1K probably null Het
Dock5 A T 14: 68,022,261 (GRCm39) L1171H probably damaging Het
Drc1 G T 5: 30,500,075 (GRCm39) V103F probably benign Het
Ep400 A T 5: 110,866,957 (GRCm39) N1062K unknown Het
Faap20 A C 4: 155,335,010 (GRCm39) E37A possibly damaging Het
Foxa2 A G 2: 147,886,086 (GRCm39) F243S probably damaging Het
Gzf1 T C 2: 148,525,856 (GRCm39) M109T probably damaging Het
Itch T A 2: 155,054,259 (GRCm39) M701K probably benign Het
Kpna1 T C 16: 35,841,939 (GRCm39) Y280H possibly damaging Het
L1td1 A G 4: 98,625,874 (GRCm39) probably null Het
Lrrc37a T C 11: 103,392,293 (GRCm39) Q1044R probably benign Het
Lrrc52 A T 1: 167,293,937 (GRCm39) I116N probably damaging Het
Mbd5 A G 2: 49,147,698 (GRCm39) E636G probably damaging Het
Mrpl40 T C 16: 18,694,125 (GRCm39) H29R probably benign Het
Nrip1 T C 16: 76,088,173 (GRCm39) Y1128C probably damaging Het
Or10d3 G T 9: 39,461,273 (GRCm39) A298D probably damaging Het
Or4g16 A G 2: 111,136,655 (GRCm39) Y35C probably damaging Het
Or5ak20 A G 2: 85,184,202 (GRCm39) S23P possibly damaging Het
Or8c8 A G 9: 38,165,126 (GRCm39) I135V probably benign Het
Pard3 A T 8: 128,337,080 (GRCm39) E1232V probably damaging Het
Pcif1 A G 2: 164,732,799 (GRCm39) E628G probably benign Het
Pcsk1 C A 13: 75,274,845 (GRCm39) A478D probably benign Het
Pkd1l2 T C 8: 117,784,177 (GRCm39) Y700C probably damaging Het
Pknox2 T C 9: 36,821,816 (GRCm39) N270D probably benign Het
Plcb2 T C 2: 118,554,246 (GRCm39) N69S probably benign Het
Reep1 T A 6: 71,733,426 (GRCm39) probably null Het
Sash1 A T 10: 8,605,741 (GRCm39) M883K probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Septin4 A G 11: 87,480,637 (GRCm39) N405D possibly damaging Het
Serpinb3b T C 1: 107,083,208 (GRCm39) I231M possibly damaging Het
Serping1 A G 2: 84,600,195 (GRCm39) S322P probably damaging Het
Slc7a2 T C 8: 41,358,658 (GRCm39) Y334H probably benign Het
Spink5 G T 18: 44,153,891 (GRCm39) E1013* probably null Het
Thoc3 A T 13: 54,615,646 (GRCm39) N139K probably benign Het
Tubb2b T A 13: 34,314,198 (GRCm39) I7F possibly damaging Het
Upf2 A G 2: 5,966,271 (GRCm39) D297G unknown Het
Vmn2r18 T C 5: 151,508,441 (GRCm39) I228V possibly damaging Het
Vmn2r98 A C 17: 19,300,698 (GRCm39) S567R probably benign Het
Vwa5a T C 9: 38,639,376 (GRCm39) I369T probably damaging Het
Yjefn3 A C 8: 70,342,095 (GRCm39) F42V probably damaging Het
Zfp472 A T 17: 33,195,257 (GRCm39) R69* probably null Het
Zfp536 T C 7: 37,178,814 (GRCm39) S200G probably benign Het
Zfp970 T A 2: 177,166,614 (GRCm39) probably null Het
Other mutations in Tns2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACAGAGGATCTCATGATTCCTCC -3'
(R):5'- CCTGTGGAGTCTTTCTTACAAGC -3'

Sequencing Primer
(F):5'- CCTTCCCTGGGGTTTAGGTATAGAAG -3'
(R):5'- GCCAGAACGATCTAGTCTGTTTACG -3'
Posted On 2014-10-16