Incidental Mutation 'R2169:Adtrp'
ID 235680
Institutional Source Beutler Lab
Gene Symbol Adtrp
Ensembl Gene ENSMUSG00000058022
Gene Name androgen dependent TFPI regulating protein
Synonyms 9530008L14Rik
MMRRC Submission 040172-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2169 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 41916621-42001092 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41920905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 221 (S221C)
Ref Sequence ENSEMBL: ENSMUSP00000071899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072012] [ENSMUST00000121404] [ENSMUST00000179758] [ENSMUST00000220680] [ENSMUST00000223337]
AlphaFold Q8C138
Predicted Effect possibly damaging
Transcript: ENSMUST00000072012
AA Change: S221C

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000071899
Gene: ENSMUSG00000058022
AA Change: S221C

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 37 248 1.2e-65 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000121404
AA Change: S189C

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113661
Gene: ENSMUSG00000058022
AA Change: S189C

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 216 4.5e-63 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179758
AA Change: S189C

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137365
Gene: ENSMUSG00000058022
AA Change: S189C

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 216 4.5e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220949
Predicted Effect probably benign
Transcript: ENSMUST00000223337
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,622,349 (GRCm39) T606A probably benign Het
Ap1g2 T A 14: 55,336,797 (GRCm39) probably null Het
Arhgef5 A T 6: 43,251,354 (GRCm39) M702L probably benign Het
Axdnd1 A G 1: 156,245,879 (GRCm39) V34A probably damaging Het
Ccdc154 T A 17: 25,389,897 (GRCm39) V509E probably damaging Het
Cttnbp2 C T 6: 18,426,096 (GRCm39) D761N probably benign Het
Ddx18 A T 1: 121,486,138 (GRCm39) probably null Het
Dipk1a A T 5: 108,057,325 (GRCm39) L411* probably null Het
Fam241b A T 10: 61,945,745 (GRCm39) I4N probably damaging Het
Gm5800 T C 14: 51,951,135 (GRCm39) K155E possibly damaging Het
Hemgn T A 4: 46,396,417 (GRCm39) H273L possibly damaging Het
Hsp90aa1 A G 12: 110,659,168 (GRCm39) V543A probably damaging Het
Hspa1l A G 17: 35,196,299 (GRCm39) K113E probably benign Het
Hspb2 A G 9: 50,663,015 (GRCm39) I38T probably damaging Het
Htt A T 5: 35,034,819 (GRCm39) E2021D probably benign Het
Lrpprc C T 17: 85,077,505 (GRCm39) R394Q probably benign Het
Lrrc8b T C 5: 105,629,753 (GRCm39) Y700H probably damaging Het
Mefv A G 16: 3,528,752 (GRCm39) V593A probably benign Het
Mrgprh C T 17: 13,095,856 (GRCm39) T32M probably benign Het
Mrpl18 A G 17: 13,132,655 (GRCm39) probably null Het
Muc1 A G 3: 89,138,903 (GRCm39) E504G probably damaging Het
Ndufa13 G A 8: 70,347,169 (GRCm39) A77V probably damaging Het
Or8g33 A G 9: 39,337,654 (GRCm39) F238L possibly damaging Het
Pgbd5 T A 8: 125,111,363 (GRCm39) probably null Het
Pgm5 T A 19: 24,812,179 (GRCm39) I118F probably damaging Het
Phyhip T C 14: 70,704,572 (GRCm39) F264L possibly damaging Het
Polr3e C T 7: 120,531,360 (GRCm39) R176W probably damaging Het
Prkacb C T 3: 146,452,438 (GRCm39) probably null Het
Rab19 T G 6: 39,360,975 (GRCm39) V41G possibly damaging Het
Rapgef5 A G 12: 117,679,130 (GRCm39) Y234C probably benign Het
Slc26a5 T C 5: 22,018,863 (GRCm39) T659A probably damaging Het
Slc6a2 G A 8: 93,720,729 (GRCm39) V449I probably benign Het
Stab2 A G 10: 86,723,726 (GRCm39) S1490P probably damaging Het
Tln1 T C 4: 43,548,005 (GRCm39) T713A probably damaging Het
Tmc6 A T 11: 117,659,932 (GRCm39) L732Q probably damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Vmn1r203 A T 13: 22,708,905 (GRCm39) K229* probably null Het
Xylt1 G A 7: 117,266,660 (GRCm39) G893R probably damaging Het
Ythdf1 A T 2: 180,553,907 (GRCm39) S69T probably damaging Het
Zfp114 C T 7: 23,880,509 (GRCm39) T285I probably benign Het
Zfp458 T C 13: 67,405,113 (GRCm39) E439G probably damaging Het
Zfp65 G A 13: 67,858,499 (GRCm39) T55I probably damaging Het
Zmym1 C T 4: 126,947,996 (GRCm39) probably null 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
R1165:Adtrp UTSW 13 41,967,779 (GRCm39) missense probably damaging 0.99
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
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 PCR Primer
(F):5'- AAGGTACCTAGTAGTGTGGCC -3'
(R):5'- GGACACTTCACATGACGGATG -3'

Sequencing Primer
(F):5'- ACCTAGTAGTGTGGCCTTCTG -3'
(R):5'- ACATGACGGATGTTCCCCATG -3'
Posted On 2014-10-01