Incidental Mutation 'R1165:Adtrp'
ID 100966
Institutional Source Beutler Lab
Gene Symbol Adtrp
Ensembl Gene ENSMUSG00000058022
Gene Name androgen dependent TFPI regulating protein
Synonyms 9530008L14Rik
MMRRC Submission 039238-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1165 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 41916621-42001092 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41967779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 56 (V56A)
Ref Sequence ENSEMBL: ENSMUSP00000152742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072012] [ENSMUST00000121404] [ENSMUST00000137905] [ENSMUST00000179758] [ENSMUST00000220680] [ENSMUST00000221691] [ENSMUST00000223337]
AlphaFold Q8C138
Predicted Effect probably benign
Transcript: ENSMUST00000072012
AA Change: V133A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000071899
Gene: ENSMUSG00000058022
AA Change: V133A

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 37 248 1.2e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121404
AA Change: V101A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113661
Gene: ENSMUSG00000058022
AA Change: V101A

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 216 4.5e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137905
AA Change: V101A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122312
Gene: ENSMUSG00000058022
AA Change: V101A

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 167 7.6e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179758
AA Change: V101A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137365
Gene: ENSMUSG00000058022
AA Change: V101A

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 216 4.5e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220680
AA Change: V101A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably damaging
Transcript: ENSMUST00000221691
AA Change: V56A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000223337
AA Change: V12A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T G 13: 77,482,406 (GRCm39) C1209G probably benign Het
Abcg2 C A 6: 58,655,285 (GRCm39) L407I probably benign Het
Angptl6 T G 9: 20,789,604 (GRCm39) N96T probably benign Het
Ank3 C A 10: 69,734,132 (GRCm39) N780K possibly damaging Het
AU040320 A T 4: 126,717,433 (GRCm39) probably benign Het
Best2 C T 8: 85,737,789 (GRCm39) R202H probably benign Het
Bod1l A T 5: 41,978,396 (GRCm39) S973T probably benign Het
Brca2 T A 5: 150,466,212 (GRCm39) V1992E probably damaging Het
Casp8ap2 C T 4: 32,640,563 (GRCm39) P539L probably benign Het
Ccr1 A T 9: 123,763,531 (GRCm39) V333E possibly damaging Het
Celf5 A T 10: 81,307,172 (GRCm39) V83E probably damaging Het
Col15a1 T C 4: 47,257,275 (GRCm39) probably benign Het
Coro1b C A 19: 4,199,901 (GRCm39) H81N probably damaging Het
Cwc22 A T 2: 77,734,242 (GRCm39) S686T probably damaging Het
Cyp2d26 C A 15: 82,678,242 (GRCm39) G45W probably damaging Het
Dysf T A 6: 84,044,051 (GRCm39) N297K probably damaging Het
Edem1 T A 6: 108,828,214 (GRCm39) L513Q probably damaging Het
Erich1 G A 8: 14,140,530 (GRCm39) probably benign Het
Fam91a1 T C 15: 58,302,518 (GRCm39) V286A possibly damaging Het
Fdxr C A 11: 115,162,608 (GRCm39) probably benign Het
Gas7 T C 11: 67,561,512 (GRCm39) probably benign Het
Glb1l2 T C 9: 26,705,397 (GRCm39) D151G probably damaging Het
Gm14410 A C 2: 176,885,282 (GRCm39) Y327* probably null Het
Grep1 A C 17: 23,929,489 (GRCm39) probably benign Het
H6pd A G 4: 150,080,413 (GRCm39) I136T possibly damaging Het
Hectd1 A T 12: 51,810,947 (GRCm39) probably benign Het
Hipk1 T C 3: 103,668,840 (GRCm39) T519A possibly damaging Het
Hpd A G 5: 123,314,153 (GRCm39) probably null Het
Insyn2b A G 11: 34,352,740 (GRCm39) T261A probably benign Het
Or6c76 A G 10: 129,612,302 (GRCm39) D188G probably damaging Het
Or7c19 T A 8: 85,957,400 (GRCm39) I92N probably damaging Het
Pcdha11 A G 18: 37,140,757 (GRCm39) probably benign Het
Pdgfrb T C 18: 61,197,074 (GRCm39) I170T probably benign Het
Rasgrp1 A T 2: 117,115,420 (GRCm39) F723I possibly damaging Het
Retnlg A G 16: 48,694,017 (GRCm39) T58A possibly damaging Het
Rrs1 G A 1: 9,615,992 (GRCm39) E82K probably damaging Het
Rtel1 A G 2: 180,976,732 (GRCm39) K243E probably benign Het
Slc19a2 G A 1: 164,091,014 (GRCm39) G274D probably damaging Het
Slc22a27 T C 19: 7,887,059 (GRCm39) probably null Het
Slc6a1 T C 6: 114,288,790 (GRCm39) F266L probably damaging Het
Snx25 T G 8: 46,488,752 (GRCm39) I868L probably damaging Het
Spag16 A G 1: 70,036,036 (GRCm39) I355V probably benign Het
Tmem198 A T 1: 75,456,576 (GRCm39) probably benign Het
Traf3ip3 A C 1: 192,866,786 (GRCm39) S349A probably damaging Het
Trim17 A G 11: 58,862,041 (GRCm39) N358D possibly damaging Het
Trmu A G 15: 85,776,875 (GRCm39) T196A probably damaging Het
Tsen2 A G 6: 115,538,396 (GRCm39) Y291C probably damaging Het
Vps13d A G 4: 144,853,041 (GRCm39) F2358L probably benign Het
Wnt2 T C 6: 17,989,946 (GRCm39) H317R probably benign Het
Zfp120 A T 2: 149,961,849 (GRCm39) V33E probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Other mutations in Adtrp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Adtrp APN 13 41,931,078 (GRCm39) missense probably benign 0.06
PIT4810001:Adtrp UTSW 13 41,981,724 (GRCm39) nonsense probably null
R0008:Adtrp UTSW 13 41,920,941 (GRCm39) missense probably damaging 1.00
R0606:Adtrp UTSW 13 41,920,881 (GRCm39) missense probably damaging 1.00
R1183:Adtrp UTSW 13 41,981,813 (GRCm39) utr 5 prime probably benign
R2030:Adtrp UTSW 13 41,981,735 (GRCm39) missense probably damaging 0.98
R2169:Adtrp UTSW 13 41,920,905 (GRCm39) missense possibly damaging 0.89
R4722:Adtrp UTSW 13 41,920,823 (GRCm39) missense probably benign 0.03
R5171:Adtrp UTSW 13 41,931,039 (GRCm39) missense probably damaging 1.00
R5892:Adtrp UTSW 13 41,981,682 (GRCm39) missense probably benign 0.04
R6607:Adtrp UTSW 13 41,931,087 (GRCm39) missense probably benign 0.00
R7074:Adtrp UTSW 13 41,981,617 (GRCm39) critical splice donor site probably null
R7454:Adtrp UTSW 13 41,981,791 (GRCm39) missense unknown
R7610:Adtrp UTSW 13 41,969,670 (GRCm39) missense probably benign 0.00
R8007:Adtrp UTSW 13 41,969,707 (GRCm39) missense probably damaging 1.00
R8272:Adtrp UTSW 13 41,969,630 (GRCm39) missense probably damaging 1.00
R8554:Adtrp UTSW 13 41,969,636 (GRCm39) missense possibly damaging 0.65
R8732:Adtrp UTSW 13 41,981,622 (GRCm39) missense probably damaging 1.00
R9047:Adtrp UTSW 13 41,969,636 (GRCm39) missense possibly damaging 0.65
Predicted Primers
Posted On 2014-01-15