Incidental Mutation 'R5171:Adtrp'
ID 398740
Institutional Source Beutler Lab
Gene Symbol Adtrp
Ensembl Gene ENSMUSG00000058022
Gene Name androgen dependent TFPI regulating protein
Synonyms 9530008L14Rik
MMRRC Submission 042751-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5171 (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 41931039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 183 (S183P)
Ref Sequence ENSEMBL: ENSMUSP00000071899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072012] [ENSMUST00000121404] [ENSMUST00000137905] [ENSMUST00000179758] [ENSMUST00000220680] [ENSMUST00000223337]
AlphaFold Q8C138
Predicted Effect probably damaging
Transcript: ENSMUST00000072012
AA Change: S183P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000071899
Gene: ENSMUSG00000058022
AA Change: S183P

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 37 248 1.2e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121404
AA Change: S151P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113661
Gene: ENSMUSG00000058022
AA Change: S151P

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 216 4.5e-63 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000137905
AA Change: S151P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122312
Gene: ENSMUSG00000058022
AA Change: S151P

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 167 7.6e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179758
AA Change: S151P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137365
Gene: ENSMUSG00000058022
AA Change: S151P

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 216 4.5e-63 PFAM
Predicted Effect silent
Transcript: ENSMUST00000220680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220949
Predicted Effect probably damaging
Transcript: ENSMUST00000223337
AA Change: S62P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.4084 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C A 1: 130,670,584 (GRCm39) Q269K probably benign Het
Acad9 T A 3: 36,128,547 (GRCm39) I136N possibly damaging Het
Atp11b C T 3: 35,887,086 (GRCm39) T690I probably damaging Het
Bcl2l12 G A 7: 44,640,818 (GRCm39) probably benign Het
Btnl7-ps T A 17: 34,752,503 (GRCm39) noncoding transcript Het
Ccl12 T C 11: 81,993,460 (GRCm39) C33R probably damaging Het
Cdc25a T A 9: 109,706,229 (GRCm39) S57R probably benign Het
Coro2a T A 4: 46,542,372 (GRCm39) probably benign Het
Cpne6 T C 14: 55,749,605 (GRCm39) V55A possibly damaging Het
Ddn A G 15: 98,704,207 (GRCm39) S362P possibly damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Donson A G 16: 91,478,181 (GRCm39) V258A possibly damaging Het
Gm3336 G A 8: 71,174,524 (GRCm39) V163I probably benign Het
Gper1 C T 5: 139,412,413 (GRCm39) R253C probably damaging Het
Gpsm1 T A 2: 26,217,476 (GRCm39) probably benign Het
Hip1 A G 5: 135,469,156 (GRCm39) S251P probably damaging Het
Ifi214 A G 1: 173,354,200 (GRCm39) S157P possibly damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kntc1 T C 5: 123,937,907 (GRCm39) V1535A probably benign Het
Mbd3l1 A G 9: 18,396,430 (GRCm39) N185S probably benign Het
Mnx1 T C 5: 29,679,851 (GRCm39) Q252R unknown Het
Mroh3 A T 1: 136,119,394 (GRCm39) L463Q possibly damaging Het
Myom1 T C 17: 71,406,967 (GRCm39) V1030A possibly damaging Het
Or3a1d T C 11: 74,237,640 (GRCm39) T257A probably benign Het
Or5ak20 T C 2: 85,184,114 (GRCm39) D52G probably benign Het
Or5w1 T G 2: 87,486,888 (GRCm39) I126L possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Ranbp17 A G 11: 33,167,419 (GRCm39) Y1015H probably benign Het
Rasal1 C T 5: 120,801,829 (GRCm39) T256I probably benign Het
Rexo5 T A 7: 119,423,002 (GRCm39) I278N probably damaging Het
Rims2 T A 15: 39,300,499 (GRCm39) S77T probably damaging Het
Sdk2 C T 11: 113,741,808 (GRCm39) A804T probably benign Het
Slc24a2 T A 4: 86,914,871 (GRCm39) I589F probably benign Het
Slc25a38 T A 9: 119,951,181 (GRCm39) I217K probably benign Het
Slc5a7 T C 17: 54,583,704 (GRCm39) T529A probably benign Het
Spata22 T A 11: 73,227,034 (GRCm39) S83T probably damaging Het
Spata31e4 A T 13: 50,854,414 (GRCm39) T91S possibly damaging Het
Stac2 A T 11: 97,934,324 (GRCm39) C127S possibly damaging Het
Tep1 T C 14: 51,062,259 (GRCm39) H2531R probably benign Het
Tmem151a G T 19: 5,132,061 (GRCm39) R382S probably damaging Het
Trim60 T C 8: 65,453,176 (GRCm39) T358A probably benign Het
Unc13c T A 9: 73,665,236 (GRCm39) M1048L probably benign Het
Usp29 T C 7: 6,965,074 (GRCm39) S306P probably damaging Het
Zfp26 T C 9: 20,356,203 (GRCm39) K35R probably benign Het
Zfp462 T A 4: 55,016,986 (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
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
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'- ATAAGAACCCGGCTCTCCTG -3'
(R):5'- GCCTTAGAAACCAAACAGAGGAGTC -3'

Sequencing Primer
(F):5'- CCGGCTCTCCTGGAAATTTAAAGG -3'
(R):5'- CTGACTCAGGTTTTGGAAAAGCC -3'
Posted On 2016-07-06