Incidental Mutation 'R3767:Tns2'
ID 273082
Institutional Source Beutler Lab
Gene Symbol Tns2
Ensembl Gene ENSMUSG00000037003
Gene Name tensin 2
Synonyms nep, Tenc1, nph
MMRRC Submission 040744-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3767 (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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipoq T A 16: 22,975,938 (GRCm39) V134E possibly damaging Het
Agmat A G 4: 141,483,273 (GRCm39) T236A probably benign Het
Anxa9 T C 3: 95,208,425 (GRCm39) N197S probably benign Het
Arhgap23 A T 11: 97,366,932 (GRCm39) D1071V probably damaging Het
Axdnd1 G A 1: 156,208,428 (GRCm39) T470M probably damaging Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Cdh3 A T 8: 107,263,606 (GRCm39) probably null Het
Cep85l A T 10: 53,167,906 (GRCm39) I624K probably benign Het
Cplx4 T C 18: 66,102,998 (GRCm39) T41A probably benign Het
Dchs1 A T 7: 105,406,292 (GRCm39) D2313E possibly damaging Het
Dock7 T C 4: 98,859,066 (GRCm39) T1409A probably benign Het
Exo1 C T 1: 175,714,312 (GRCm39) P73L probably damaging Het
Fgfrl1 C A 5: 108,853,242 (GRCm39) H197Q possibly damaging Het
Fsbp G A 4: 11,583,706 (GRCm39) G135D probably damaging Het
Herc3 G A 6: 58,839,973 (GRCm39) R362H probably benign Het
Herc3 T C 6: 58,853,587 (GRCm39) F583L probably benign Het
Ifna7 T C 4: 88,734,964 (GRCm39) V167A probably damaging Het
Ighv1-54 A G 12: 115,157,596 (GRCm39) V17A possibly damaging Het
Kcnh5 A G 12: 75,134,350 (GRCm39) Y400H possibly damaging Het
Kcnk16 T A 14: 20,319,230 (GRCm39) M1L possibly damaging Het
Kctd19 T C 8: 106,123,112 (GRCm39) T101A probably benign Het
Klf3 A G 5: 64,984,560 (GRCm39) probably null Het
Krtap12-1 G T 10: 77,556,729 (GRCm39) V91L probably benign Het
Lonp1 T C 17: 56,928,952 (GRCm39) E270G possibly damaging Het
Mgl2 T C 11: 70,026,659 (GRCm39) L128P probably damaging Het
Mrc1 A G 2: 14,323,981 (GRCm39) Y1106C probably damaging Het
Mybpc1 G T 10: 88,406,521 (GRCm39) probably null Het
Mypn C A 10: 62,961,486 (GRCm39) L1035F possibly damaging Het
Neurl1a T C 19: 47,228,328 (GRCm39) L58P probably damaging Het
Nlrp4e G T 7: 23,039,988 (GRCm39) L770F probably damaging Het
Npas3 A G 12: 54,115,857 (GRCm39) *895W probably null Het
Nphs2 T C 1: 156,140,608 (GRCm39) I115T probably damaging Het
Or1ad6 A G 11: 50,860,385 (GRCm39) D180G probably damaging Het
Or8g22 T A 9: 38,958,707 (GRCm39) H47L unknown Het
Patj A T 4: 98,569,456 (GRCm39) K1128* probably null Het
Pla2g5 C G 4: 138,528,746 (GRCm39) C70S probably damaging Het
Pole4 G A 6: 82,599,095 (GRCm39) R119C possibly damaging Het
Ppm1h G T 10: 122,740,027 (GRCm39) L367F probably damaging Het
Ppp1r13b G T 12: 111,812,851 (GRCm39) R123S probably damaging Het
Ptpru C T 4: 131,535,735 (GRCm39) C414Y probably damaging Het
Pum2 T A 12: 8,769,076 (GRCm39) Y323* probably null Het
Rhot2 T C 17: 26,059,521 (GRCm39) D407G probably benign Het
Rreb1 C T 13: 38,113,579 (GRCm39) R313W possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scn11a T A 9: 119,613,115 (GRCm39) D825V probably damaging Het
Selenoi A G 5: 30,461,187 (GRCm39) Y141C probably damaging Het
Smcr8 A G 11: 60,670,330 (GRCm39) T493A probably benign Het
Tjp2 A T 19: 24,078,190 (GRCm39) I901N probably benign Het
Ttc23l T A 15: 10,530,781 (GRCm39) Y277F possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Wdr1 C T 5: 38,697,882 (GRCm39) G228R probably damaging Het
Xab2 T C 8: 3,669,053 (GRCm39) N31S probably damaging 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
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
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'- CAGAGGATCTCATGATTCCTCC -3'
(R):5'- CCTGTGGAGTCTTTCTTACAAGC -3'

Sequencing Primer
(F):5'- CCTTCCCTGGGGTTTAGGTATAGAAG -3'
(R):5'- GCCAGAACGATCTAGTCTGTTTACG -3'
Posted On 2015-03-25