Incidental Mutation 'R1453:Tns2'
ID 161632
Institutional Source Beutler Lab
Gene Symbol Tns2
Ensembl Gene ENSMUSG00000037003
Gene Name tensin 2
Synonyms nep, Tenc1, nph
MMRRC Submission 039508-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1453 (G1)
Quality Score 222
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: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.3%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,862,763 (GRCm39) I240M probably benign Het
Abcd3 A T 3: 121,558,710 (GRCm39) D595E probably damaging Het
Akap9 A G 5: 4,025,614 (GRCm39) probably null Het
Arpc1b A G 5: 145,062,555 (GRCm39) D223G probably damaging Het
Atp6ap1l T A 13: 91,046,866 (GRCm39) T104S probably benign Het
BC005537 T C 13: 24,989,969 (GRCm39) probably null Het
Ccdc9b T C 2: 118,587,903 (GRCm39) D477G possibly damaging Het
Chrdl2 T C 7: 99,666,197 (GRCm39) V39A possibly damaging Het
Clmp C G 9: 40,693,737 (GRCm39) S318W probably damaging Het
Cmas T C 6: 142,717,853 (GRCm39) S323P probably damaging Het
Cnksr3 T C 10: 7,079,132 (GRCm39) T80A probably benign Het
Ddx25 T C 9: 35,453,298 (GRCm39) Y484C probably damaging Het
Dennd6b A G 15: 89,073,075 (GRCm39) V154A probably damaging Het
Dmxl1 G A 18: 49,990,316 (GRCm39) V252I probably benign Het
Dnah2 T C 11: 69,341,876 (GRCm39) Y3003C probably damaging Het
Dnhd1 T C 7: 105,370,480 (GRCm39) probably null Het
Dppa4 G A 16: 48,111,596 (GRCm39) A194T probably damaging Het
Dst T C 1: 34,228,527 (GRCm39) V2218A possibly damaging Het
Dytn G C 1: 63,673,032 (GRCm39) S457C probably damaging Het
Fndc3a G A 14: 72,777,768 (GRCm39) Q1101* probably null Het
Focad A T 4: 88,275,679 (GRCm39) probably null Het
Gas2l2 T A 11: 83,312,907 (GRCm39) T802S probably benign Het
Gm5093 A G 17: 46,750,622 (GRCm39) F135S probably benign Het
Gmeb1 A T 4: 131,969,759 (GRCm39) D71E possibly damaging Het
Heatr5b G A 17: 79,124,992 (GRCm39) R587C probably damaging Het
Jakmip2 T C 18: 43,692,279 (GRCm39) probably null Het
Mier3 T A 13: 111,841,778 (GRCm39) L111Q probably damaging Het
Mrgprg G A 7: 143,318,779 (GRCm39) S111F possibly damaging Het
Mybl1 T C 1: 9,741,901 (GRCm39) K677R probably benign Het
Nhsl1 T C 10: 18,407,323 (GRCm39) S1486P probably damaging Het
Nup133 A G 8: 124,642,114 (GRCm39) I783T probably benign Het
Or10d4c A T 9: 39,558,459 (GRCm39) T146S probably benign Het
Or5an1c A T 19: 12,218,956 (GRCm39) I23K probably benign Het
Pigr A T 1: 130,769,281 (GRCm39) I31L probably benign Het
Plaat5 A G 19: 7,616,999 (GRCm39) probably benign Het
Pole2 G A 12: 69,254,703 (GRCm39) L381F probably benign Het
Pramel6 T A 2: 87,338,917 (GRCm39) M39K possibly damaging Het
Rapgef6 T A 11: 54,530,553 (GRCm39) probably null Het
Rinl T C 7: 28,496,329 (GRCm39) C437R probably damaging Het
Shank1 T C 7: 43,965,499 (GRCm39) S192P unknown Het
Slc2a10 A T 2: 165,359,570 (GRCm39) Y478F probably damaging Het
Slc37a3 A T 6: 39,343,877 (GRCm39) L12H probably damaging Het
Slit2 T A 5: 48,414,393 (GRCm39) C970S possibly damaging Het
Stard9 T C 2: 120,496,857 (GRCm39) S119P probably damaging Het
Stim2 C A 5: 54,273,451 (GRCm39) D568E probably damaging Het
Traf3 A G 12: 111,221,757 (GRCm39) E306G probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Ttll6 T C 11: 96,049,714 (GRCm39) S811P possibly damaging Het
Ubr7 A G 12: 102,735,437 (GRCm39) K299E probably benign Het
Urb1 C A 16: 90,593,380 (GRCm39) V251L probably damaging Het
Vps13b G T 15: 35,422,590 (GRCm39) E183D probably damaging Het
Zfp35 T G 18: 24,136,557 (GRCm39) Y300* probably null Het
Zfp414 C T 17: 33,849,012 (GRCm39) T33I probably damaging Het
Zfp938 C T 10: 82,063,632 (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
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
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'- CCTTTGACAAGCGAGGAAAGCCAG -3'
(R):5'- GTGCCAAGAAAGCATCAGCGTC -3'

Sequencing Primer
(F):5'- CCGGGAAACTGACTATGCTG -3'
(R):5'- cagaccttatcgccagcc -3'
Posted On 2014-03-14