Incidental Mutation 'R6544:Tns2'
ID 521056
Institutional Source Beutler Lab
Gene Symbol Tns2
Ensembl Gene ENSMUSG00000037003
Gene Name tensin 2
Synonyms nep, Tenc1, nph
MMRRC Submission 044670-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6544 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 102008848-102024836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 102022269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 1182 (K1182N)
Ref Sequence ENSEMBL: ENSMUSP00000155830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046144] [ENSMUST00000154032] [ENSMUST00000169627] [ENSMUST00000228958] [ENSMUST00000230474]
AlphaFold Q8CGB6
Predicted Effect possibly damaging
Transcript: ENSMUST00000046144
AA Change: K1189N

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000041087
Gene: ENSMUSG00000037003
AA Change: K1189N

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 noncoding transcript
Transcript: ENSMUST00000128884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139279
Predicted Effect probably benign
Transcript: ENSMUST00000154032
SMART Domains Protein: ENSMUSP00000121493
Gene: ENSMUSG00000036966

DomainStartEndE-ValueType
low complexity region 28 38 N/A INTRINSIC
SPRY 76 201 1.66e-11 SMART
SPRY 256 441 3.28e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169627
AA Change: K1182N

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129146
Gene: ENSMUSG00000037003
AA Change: K1182N

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 possibly damaging
Transcript: ENSMUST00000228958
AA Change: K1182N

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000230474
AA Change: K1174N

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229800
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229035
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229097
Meta Mutation Damage Score 0.1195 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (48/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005K14Rik T A 1: 83,036,678 (GRCm39) K118* probably null Het
Actr2 A G 11: 20,050,933 (GRCm39) F17L probably damaging Het
Adam26b T C 8: 43,974,818 (GRCm39) I61M probably damaging Het
Ahcyl A C 16: 45,975,147 (GRCm39) S77A probably benign Het
Ahnak2 A G 12: 112,746,829 (GRCm39) probably benign Het
Angptl3 T C 4: 98,919,675 (GRCm39) L145P probably damaging Het
Ank2 T C 3: 126,726,871 (GRCm39) T808A probably damaging Het
Ark2c T A 18: 77,650,931 (GRCm39) probably benign Het
Cadm3 A G 1: 173,194,977 (GRCm39) probably null Het
Cog7 C T 7: 121,534,966 (GRCm39) R573Q probably damaging Het
Dchs1 T A 7: 105,407,385 (GRCm39) I2110F probably damaging Het
Fbxo47 G A 11: 97,747,089 (GRCm39) R326C probably damaging Het
Frmpd1 A T 4: 45,279,024 (GRCm39) D583V probably damaging Het
Gigyf1 T A 5: 137,523,321 (GRCm39) L911Q probably damaging Het
Gprin1 G A 13: 54,888,124 (GRCm39) A50V possibly damaging Het
Grik4 A T 9: 42,459,024 (GRCm39) Y571* probably null Het
Gucy2e A G 11: 69,126,483 (GRCm39) V299A probably benign Het
Hectd2 C T 19: 36,589,728 (GRCm39) L618F probably damaging Het
Lactbl1 A T 4: 136,360,300 (GRCm39) I160F possibly damaging Het
Lats1 T A 10: 7,577,434 (GRCm39) V186D possibly damaging Het
Lmtk2 A G 5: 144,110,624 (GRCm39) H448R possibly damaging Het
Map10 T C 8: 126,398,113 (GRCm39) I502T probably benign Het
Mok A G 12: 110,777,189 (GRCm39) F239S probably damaging Het
Mprip G A 11: 59,648,552 (GRCm39) G752D probably benign Het
Naip5 C A 13: 100,359,652 (GRCm39) G528V possibly damaging Het
Neu2 T C 1: 87,524,464 (GRCm39) W150R probably damaging Het
Or1ak2 T A 2: 36,827,539 (GRCm39) M136K possibly damaging Het
Or5an1 T C 19: 12,260,519 (GRCm39) Y36H probably damaging Het
Or5as1 T A 2: 86,980,207 (GRCm39) Y266F probably damaging Het
Or5l13 T A 2: 87,780,335 (GRCm39) M81L probably benign Het
Pip5k1c T A 10: 81,144,830 (GRCm39) Y224N probably damaging Het
Plch1 T C 3: 63,758,399 (GRCm39) E5G probably damaging Het
Pspc1 T C 14: 57,001,660 (GRCm39) *59W probably null Het
Ptprq T C 10: 107,444,102 (GRCm39) T1501A probably damaging Het
Rorb G T 19: 18,929,614 (GRCm39) P304T possibly damaging Het
Scn7a A T 2: 66,514,444 (GRCm39) L1110Q probably damaging Het
Serpine2 C T 1: 79,780,847 (GRCm39) probably null Het
Slco1c1 A G 6: 141,477,170 (GRCm39) probably null Het
Smarca2 T A 19: 26,608,331 (GRCm39) V130D probably damaging Het
Sox17 G T 1: 4,562,655 (GRCm39) P117T possibly damaging Het
Sparcl1 A T 5: 104,240,310 (GRCm39) Y371* probably null Het
Tdpoz2 T C 3: 93,559,267 (GRCm39) D235G possibly damaging Het
Tpte G T 8: 22,805,121 (GRCm39) probably null Het
Ttn A T 2: 76,799,503 (GRCm39) I459K possibly damaging Het
Wdr97 T C 15: 76,242,478 (GRCm39) Y823H probably benign Het
Zc3h15 G A 2: 83,491,492 (GRCm39) R240H probably benign Het
Zfp455 C A 13: 67,355,121 (GRCm39) L130I probably benign Het
Zfp777 A T 6: 48,021,419 (GRCm39) S68T 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
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
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'- TAGAACTGTGTGGGGCTGAC -3'
(R):5'- TCTCGATGAGGAAATGGCGG -3'

Sequencing Primer
(F):5'- GCTGACAGCCATCTCTAAACTTCTG -3'
(R):5'- AAGCTTTATGGCATCCCAGG -3'
Posted On 2018-06-06