Incidental Mutation 'R8554:Adtrp'
ID 660037
Institutional Source Beutler Lab
Gene Symbol Adtrp
Ensembl Gene ENSMUSG00000058022
Gene Name androgen dependent TFPI regulating protein
Synonyms 9530008L14Rik
MMRRC Submission 068517-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8554 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 41916621-42001092 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 41969636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 89 (T89I)
Ref Sequence ENSEMBL: ENSMUSP00000152611 (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: T121I

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000071899
Gene: ENSMUSG00000058022
AA Change: T121I

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 37 248 1.2e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121404
AA Change: T89I

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113661
Gene: ENSMUSG00000058022
AA Change: T89I

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 216 4.5e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137905
AA Change: T89I

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122312
Gene: ENSMUSG00000058022
AA Change: T89I

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 167 7.6e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179758
AA Change: T89I

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000137365
Gene: ENSMUSG00000058022
AA Change: T89I

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 216 4.5e-63 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000220680
AA Change: T89I

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000221691
Predicted Effect probably benign
Transcript: ENSMUST00000223337
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aopep T A 13: 63,444,711 (GRCm39) Y94N possibly damaging Het
Apc T C 18: 34,445,999 (GRCm39) V947A probably damaging Het
Apob A C 12: 8,037,830 (GRCm39) K334N probably damaging Het
Camk2d A T 3: 126,564,448 (GRCm39) Q119L possibly damaging Het
Ccdc60 A T 5: 116,328,171 (GRCm39) F98I probably damaging Het
Cd47 A G 16: 49,688,304 (GRCm39) T22A probably benign Het
Crat A G 2: 30,300,035 (GRCm39) V115A probably benign Het
Csmd3 T C 15: 47,507,538 (GRCm39) M2992V probably benign Het
Dsg4 T A 18: 20,586,100 (GRCm39) N263K probably damaging Het
Eln A C 5: 134,738,964 (GRCm39) probably benign Het
Ep300 A G 15: 81,523,228 (GRCm39) E1284G unknown Het
Fam193a T A 5: 34,633,115 (GRCm39) M122K probably benign Het
Fcgr1 A T 3: 96,199,788 (GRCm39) W40R probably damaging Het
Gm3486 T A 14: 41,209,119 (GRCm39) Q84L probably damaging Het
Golga2 G A 2: 32,183,357 (GRCm39) D80N probably damaging Het
Isg20 T C 7: 78,566,425 (GRCm39) Y125H probably benign Het
Kdf1 A G 4: 133,256,188 (GRCm39) I302V probably damaging Het
Kics2 T A 10: 121,575,960 (GRCm39) I27N probably benign Het
Krt33a T A 11: 99,903,209 (GRCm39) T278S possibly damaging Het
Lrp1b T A 2: 41,234,495 (GRCm39) Q1038L probably benign Het
Marchf6 G A 15: 31,482,976 (GRCm39) H476Y probably damaging Het
Myom1 A G 17: 71,343,448 (GRCm39) E215G possibly damaging Het
Or2aa1 A T 11: 59,480,312 (GRCm39) L201Q possibly damaging Het
Or2h15 T A 17: 38,441,489 (GRCm39) Q198L probably damaging Het
Or4c122 T C 2: 89,079,595 (GRCm39) T148A possibly damaging Het
Pate11 A G 9: 36,387,788 (GRCm39) I25V probably benign Het
Pdlim2 T A 14: 70,408,698 (GRCm39) T173S probably benign Het
Pitpnb T C 5: 111,494,372 (GRCm39) M74T probably benign Het
Pou2f2 C A 7: 24,814,981 (GRCm39) probably benign Het
Rab35 A C 5: 115,783,690 (GRCm39) probably null Het
Rasef A T 4: 73,645,844 (GRCm39) D508E probably benign Het
Rev3l T C 10: 39,682,838 (GRCm39) S319P probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rgl3 A G 9: 21,900,159 (GRCm39) S44P probably benign Het
Rnf214 C A 9: 45,778,797 (GRCm39) probably null Het
Rpsa T C 9: 119,958,317 (GRCm39) V76A possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Senp7 T C 16: 55,978,973 (GRCm39) V529A probably benign Het
Siglecg C T 7: 43,058,320 (GRCm39) S69L probably benign Het
Sos1 G T 17: 80,705,842 (GRCm39) T1243K probably damaging Het
Tent5a T C 9: 85,208,784 (GRCm39) D13G possibly damaging Het
Tlcd3a A G 11: 76,096,244 (GRCm39) H124R probably damaging Het
Tmc2 A G 2: 130,106,084 (GRCm39) T872A probably benign Het
Tnfrsf8 A C 4: 145,023,511 (GRCm39) C107W probably damaging Het
Tnn T C 1: 159,937,986 (GRCm39) Y913C probably damaging Het
Ttn T C 2: 76,568,376 (GRCm39) T19179A probably damaging Het
Usp42 T A 5: 143,706,137 (GRCm39) K294N probably damaging Het
Vmn1r123 T A 7: 20,896,971 (GRCm39) C288S probably benign Het
Vmn1r29 T A 6: 58,285,191 (GRCm39) *304K probably null Het
Vmn2r1 T C 3: 63,997,334 (GRCm39) I330T probably damaging Het
Vmn2r16 A G 5: 109,511,997 (GRCm39) I735V probably benign Het
Vmn2r65 T C 7: 84,595,960 (GRCm39) I241M 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
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
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
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'- AAGCTCATCTGTGGTGTACCC -3'
(R):5'- AGCCAACATTGCTCCCAGAG -3'

Sequencing Primer
(F):5'- CTCCTGGATGATGCTAGACAATGC -3'
(R):5'- CCGCAGCTTGACATCAGTC -3'
Posted On 2021-01-18