Incidental Mutation 'PIT4810001:Adtrp'
ID 556870
Institutional Source Beutler Lab
Gene Symbol Adtrp
Ensembl Gene ENSMUSG00000058022
Gene Name androgen dependent TFPI regulating protein
Synonyms 9530008L14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4810001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 41916621-42001092 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 41981724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 48 (W48*)
Ref Sequence ENSEMBL: ENSMUSP00000071899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072012] [ENSMUST00000121404] [ENSMUST00000137905] [ENSMUST00000179758] [ENSMUST00000220680] [ENSMUST00000221691] [ENSMUST00000223337]
AlphaFold Q8C138
Predicted Effect probably null
Transcript: ENSMUST00000072012
AA Change: W48*
SMART Domains Protein: ENSMUSP00000071899
Gene: ENSMUSG00000058022
AA Change: W48*

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 37 248 1.2e-65 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000121404
AA Change: W16*
SMART Domains Protein: ENSMUSP00000113661
Gene: ENSMUSG00000058022
AA Change: W16*

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 216 4.5e-63 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000137905
AA Change: W16*
SMART Domains Protein: ENSMUSP00000122312
Gene: ENSMUSG00000058022
AA Change: W16*

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 167 7.6e-47 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000179758
AA Change: W16*
SMART Domains Protein: ENSMUSP00000137365
Gene: ENSMUSG00000058022
AA Change: W16*

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 216 4.5e-63 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000220680
AA Change: W16*
Predicted Effect probably null
Transcript: ENSMUST00000221691
AA Change: W16*
Predicted Effect probably null
Transcript: ENSMUST00000223337
Coding Region Coverage
  • 1x: 93.8%
  • 3x: 91.1%
  • 10x: 85.1%
  • 20x: 72.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik A G 16: 90,852,822 (GRCm39) S105P probably damaging Het
Agxt2 A T 15: 10,399,151 (GRCm39) M413L probably benign Het
Ahnak2 T A 12: 112,749,214 (GRCm39) D211V Het
Aplnr T A 2: 84,967,628 (GRCm39) C218S probably damaging Het
Arhgdib T A 6: 136,901,162 (GRCm39) E189V probably damaging Het
Atp10a T C 7: 58,463,596 (GRCm39) I1043T probably damaging Het
Atp13a5 C T 16: 29,133,382 (GRCm39) C468Y probably damaging Het
Cars2 A T 8: 11,564,699 (GRCm39) C459S probably benign Het
Ccr3 T A 9: 123,829,645 (GRCm39) Y327N probably benign Het
Ceacam1 T A 7: 25,171,400 (GRCm39) I355F probably damaging Het
Celsr3 T C 9: 108,722,932 (GRCm39) L2773P probably damaging Het
Ces2g A T 8: 105,691,521 (GRCm39) H192L possibly damaging Het
Cfap157 A G 2: 32,671,444 (GRCm39) F121L probably damaging Het
Champ1 G A 8: 13,929,234 (GRCm39) S464N probably benign Het
Clasp2 T A 9: 113,735,135 (GRCm39) L990Q probably damaging Het
Col6a3 A T 1: 90,706,516 (GRCm39) L2806Q unknown Het
Cpz T C 5: 35,665,536 (GRCm39) E435G possibly damaging Het
Crbn T A 6: 106,761,440 (GRCm39) R233* probably null Het
Ctc1 C T 11: 68,913,352 (GRCm39) T116I probably benign Het
Cyp4f17 T C 17: 32,743,574 (GRCm39) S314P possibly damaging Het
Dmxl1 A G 18: 50,065,030 (GRCm39) E2625G probably damaging Het
Dock7 T A 4: 98,833,796 (GRCm39) R1874* probably null Het
E130311K13Rik A T 3: 63,823,122 (GRCm39) L174* probably null Het
Etnppl A G 3: 130,414,363 (GRCm39) D86G probably benign Het
Fbxw18 C A 9: 109,505,958 (GRCm39) E438* probably null Het
Gpatch8 T C 11: 102,372,668 (GRCm39) N290S unknown Het
Gpr155 A C 2: 73,178,607 (GRCm39) L727R probably benign Het
Gpr158 C G 2: 21,831,682 (GRCm39) D927E probably benign Het
Igsf10 T C 3: 59,225,903 (GRCm39) Y2590C probably damaging Het
Ints7 A G 1: 191,328,348 (GRCm39) D207G probably damaging Het
Iqsec1 A G 6: 90,647,473 (GRCm39) L743P probably damaging Het
Kansl1l A T 1: 66,801,308 (GRCm39) S553T probably damaging Het
Klhl14 G T 18: 21,690,880 (GRCm39) Y523* probably null Het
Krtap14 A G 16: 88,622,515 (GRCm39) S155P probably damaging Het
Lrrc3b A G 14: 15,358,273 (GRCm38) V111A probably benign Het
Maml2 A G 9: 13,531,320 (GRCm39) N178S Het
Megf8 G A 7: 25,041,710 (GRCm39) C1208Y probably damaging Het
Mocos A G 18: 24,819,759 (GRCm39) D667G probably damaging Het
Nid2 A G 14: 19,860,158 (GRCm39) T1359A possibly damaging Het
Nup210 T C 6: 91,007,106 (GRCm39) E1357G probably damaging Het
Or2d2 A T 7: 106,727,766 (GRCm39) M278K probably benign Het
Or4a2 A T 2: 89,248,297 (GRCm39) H153Q probably damaging Het
Or9s15 T A 1: 92,524,876 (GRCm39) F212I probably benign Het
Pign A G 1: 105,525,487 (GRCm39) V447A possibly damaging Het
Pomp T C 5: 147,806,229 (GRCm39) L57P probably benign Het
Pou2af2 C T 9: 51,202,992 (GRCm39) G54D possibly damaging Het
Rbms3 T A 9: 116,885,861 (GRCm39) Y128F probably damaging Het
Slc12a4 A G 8: 106,678,228 (GRCm39) F322L probably benign Het
Slc16a9 T A 10: 70,119,762 (GRCm39) C468* probably null Het
Slc22a18 A G 7: 143,046,668 (GRCm39) I271V probably benign Het
Slc25a41 A G 17: 57,346,933 (GRCm39) V20A possibly damaging Het
Smim7 A T 8: 73,324,857 (GRCm39) L6Q probably damaging Het
Snx29 T C 16: 11,218,845 (GRCm39) V227A probably damaging Het
Sowaha A T 11: 53,369,290 (GRCm39) L482Q probably damaging Het
Srp19 A G 18: 34,467,523 (GRCm39) Y68C probably damaging Het
Tecr A G 8: 84,298,884 (GRCm39) S298P probably damaging Het
Terb2 T A 2: 122,035,379 (GRCm39) I200N probably damaging Het
Togaram1 G A 12: 65,030,286 (GRCm39) S1030N probably damaging Het
Trav7n-4 A G 14: 53,329,193 (GRCm39) M68V probably benign Het
Tshz1 A C 18: 84,031,375 (GRCm39) L1011R possibly damaging Het
Tubb3 A G 8: 124,148,396 (GRCm39) E443G possibly damaging Het
Uba5 A T 9: 103,932,396 (GRCm39) I189K probably damaging Het
Vasn A G 16: 4,467,909 (GRCm39) T619A probably benign Het
Wbp1l A G 19: 46,642,761 (GRCm39) D254G probably benign Het
Zzef1 T C 11: 72,741,571 (GRCm39) F738L probably damaging Het
Other mutations in Adtrp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Adtrp APN 13 41,931,078 (GRCm39) missense probably benign 0.06
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
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'- GGAAGACCTATAGGGAGTTTGTGC -3'
(R):5'- GAGATGCAAAGTCCAGCCTG -3'

Sequencing Primer
(F):5'- CTTAGTAAGTGGTTCGTGGAAAAAC -3'
(R):5'- AAGTCCAGCCTGTGTTGAAATGC -3'
Posted On 2019-06-07