Incidental Mutation 'R5892:Adtrp'
ID 457258
Institutional Source Beutler Lab
Gene Symbol Adtrp
Ensembl Gene ENSMUSG00000058022
Gene Name androgen dependent TFPI regulating protein
Synonyms 9530008L14Rik
MMRRC Submission 044093-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5892 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 41916621-42001092 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41981682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 30 (N30K)
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: N62K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000071899
Gene: ENSMUSG00000058022
AA Change: N62K

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 37 248 1.2e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121404
AA Change: N30K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113661
Gene: ENSMUSG00000058022
AA Change: N30K

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 216 4.5e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137905
AA Change: N30K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122312
Gene: ENSMUSG00000058022
AA Change: N30K

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 167 7.6e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179758
AA Change: N30K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137365
Gene: ENSMUSG00000058022
AA Change: N30K

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 216 4.5e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220680
AA Change: N30K

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect unknown
Transcript: ENSMUST00000221691
AA Change: N30K
Predicted Effect probably benign
Transcript: ENSMUST00000223337
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524J08Rik G T 5: 100,127,124 (GRCm39) probably benign Het
Abcb11 C T 2: 69,091,844 (GRCm39) A893T probably damaging Het
Alms1 T A 6: 85,597,885 (GRCm39) S904T probably damaging Het
Cep170 T A 1: 176,582,953 (GRCm39) probably null Het
Cntnap3 A G 13: 64,946,994 (GRCm39) V145A probably damaging Het
Dclre1a T C 19: 56,535,572 (GRCm39) E4G probably benign Het
Depdc1a G C 3: 159,232,306 (GRCm39) A686P probably damaging Het
Dnah7b T C 1: 46,376,753 (GRCm39) probably null Het
Enox1 A G 14: 77,723,457 (GRCm39) probably benign Het
Fam107b A G 2: 3,779,601 (GRCm39) E268G probably damaging Het
Fer1l6 A G 15: 58,435,917 (GRCm39) S437G probably benign Het
Flnb C A 14: 7,907,183 (GRCm38) T1252K probably damaging Het
Fubp1 A G 3: 151,923,951 (GRCm39) probably benign Het
Gm20402 G A 3: 52,176,370 (GRCm39) A50T probably benign Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gzmk C T 13: 113,310,456 (GRCm39) probably null Het
Ino80 A T 2: 119,270,028 (GRCm39) probably benign Het
Ints8 T C 4: 11,223,813 (GRCm39) T677A probably damaging Het
Kat6a A G 8: 23,428,305 (GRCm39) E1220G probably damaging Het
Lrfn5 A G 12: 61,890,204 (GRCm39) T498A probably damaging Het
Lrp2 T A 2: 69,273,120 (GRCm39) T4043S probably benign Het
Malrd1 A G 2: 15,619,078 (GRCm39) N314S probably benign Het
Mfsd1 A G 3: 67,497,162 (GRCm39) probably null Het
Muc1 C T 3: 89,138,300 (GRCm39) P381S probably benign Het
Myh2 A T 11: 67,076,002 (GRCm39) K730* probably null Het
Nat3 T A 8: 68,000,590 (GRCm39) N156K probably benign Het
Nelfe T C 17: 35,073,645 (GRCm39) probably benign Het
Nlrp1a A T 11: 70,990,471 (GRCm39) L927Q probably damaging Het
P4ha2 A G 11: 54,011,014 (GRCm39) Y343C probably damaging Het
Pclo A T 5: 14,571,185 (GRCm39) Q190L probably damaging Het
Pde8a A G 7: 80,945,439 (GRCm39) N183S probably damaging Het
Plekha2 C T 8: 25,542,381 (GRCm39) V278I probably benign Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Plxnb1 T C 9: 108,940,775 (GRCm39) L1550P probably damaging Het
Ppox C T 1: 171,105,034 (GRCm39) V385I probably damaging Het
Prdm16 T C 4: 154,407,716 (GRCm39) D1170G possibly damaging Het
Prmt5 A T 14: 54,747,368 (GRCm39) S470T probably damaging Het
Robo2 T A 16: 73,692,668 (GRCm39) probably benign Het
Siglecg G A 7: 43,061,628 (GRCm39) probably benign Het
Slc30a5 T C 13: 100,949,810 (GRCm39) N367S probably damaging Het
Tex29 C T 8: 11,904,288 (GRCm39) probably benign Het
Tmem117 T A 15: 94,536,020 (GRCm39) V18E probably damaging Het
Tmtc2 C T 10: 105,249,366 (GRCm39) M122I probably benign Het
Tpr T A 1: 150,283,151 (GRCm39) N287K probably benign Het
Unc93b1 A T 19: 3,993,632 (GRCm39) D358V probably damaging Het
Vrk2 A T 11: 26,484,372 (GRCm39) probably benign Het
Wdr24 A T 17: 26,046,960 (GRCm39) Q671L probably benign Het
Zfp110 C T 7: 12,582,405 (GRCm39) T351I probably benign Het
Zfp963 T C 8: 70,196,027 (GRCm39) D142G 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
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'- GTTAGACACCCCAGTAGCTAC -3'
(R):5'- TTTCCAGCCTGAACAGAGGG -3'

Sequencing Primer
(F):5'- CTGATTAGCAGGGGAAGCCC -3'
(R):5'- CCTGAACAGAGGGCAGCTG -3'
Posted On 2017-02-15