Incidental Mutation 'R7610:Adtrp'
ID588562
Institutional Source Beutler Lab
Gene Symbol Adtrp
Ensembl Gene ENSMUSG00000058022
Gene Nameandrogen dependent TFPI regulating protein
Synonyms9530008L14Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7610 (G1)
Quality Score225.009
Status Validated
Chromosome13
Chromosomal Location41763148-41847684 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 41816194 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 110 (F110L)
Ref Sequence ENSEMBL: ENSMUSP00000071899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072012] [ENSMUST00000121404] [ENSMUST00000137905] [ENSMUST00000179758] [ENSMUST00000220680] [ENSMUST00000221691] [ENSMUST00000223337]
Predicted Effect probably benign
Transcript: ENSMUST00000072012
AA Change: F110L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000071899
Gene: ENSMUSG00000058022
AA Change: F110L

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 37 248 1.2e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121404
AA Change: F78L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113661
Gene: ENSMUSG00000058022
AA Change: F78L

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 216 4.5e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137905
AA Change: F78L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122312
Gene: ENSMUSG00000058022
AA Change: F78L

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 167 7.6e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179758
AA Change: F78L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137365
Gene: ENSMUSG00000058022
AA Change: F78L

DomainStartEndE-ValueType
Pfam:Far-17a_AIG1 5 216 4.5e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220680
AA Change: F78L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
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: 99.0%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik T A 13: 105,111,187 N338K probably damaging Het
Acta2 G A 19: 34,252,531 T8I probably benign Het
Akap9 T G 5: 3,957,677 D230E possibly damaging Het
Alg11 G A 8: 22,065,131 R136H probably damaging Het
Ank3 A T 10: 69,986,422 N307I Het
Ankrd17 A G 5: 90,232,363 S2489P possibly damaging Het
Asf1b T G 8: 83,965,049 I43S probably damaging Het
Cdc37l1 G T 19: 29,007,732 G261W possibly damaging Het
Cpped1 C A 16: 11,894,878 probably null Het
Ctsk T C 3: 95,500,844 F4L probably benign Het
D130043K22Rik A T 13: 24,876,002 T619S probably benign Het
Ddx25 T A 9: 35,554,597 L109F possibly damaging Het
Dhrs9 C A 2: 69,392,947 A13D unknown Het
Epha7 C T 4: 28,871,937 S422L probably benign Het
Fam228a A G 12: 4,731,423 probably null Het
Fancm T C 12: 65,105,680 V970A probably damaging Het
Fcrls C A 3: 87,252,697 V417F probably damaging Het
Fig4 C A 10: 41,253,713 A504S probably damaging Het
Frmpd1 T C 4: 45,279,098 S608P probably damaging Het
Ggta1 C T 2: 35,414,218 probably null Het
Gm13084 A T 4: 143,812,866 M19K probably damaging Het
Grb10 T C 11: 11,943,955 K377R probably benign Het
Hivep3 CGG CG 4: 120,097,911 probably null Het
Klf14 A G 6: 30,958,070 S210P probably damaging Het
Marc2 A G 1: 184,819,286 Y318H probably benign Het
Mcm3ap A G 10: 76,496,720 probably null Het
Mgrn1 T C 16: 4,934,233 *533Q probably null Het
Notch1 A T 2: 26,478,179 H598Q probably benign Het
Ntng1 A G 3: 109,934,825 S211P probably damaging Het
Olfr1104 A G 2: 87,021,797 V249A possibly damaging Het
Olfr532 A T 7: 140,419,553 C73* probably null Het
Pgm5 A C 19: 24,834,756 N137K probably damaging Het
Plcb2 T A 2: 118,719,759 N172I possibly damaging Het
Rab11fip1 G A 8: 27,152,036 H912Y probably benign Het
Rgl1 A G 1: 152,552,620 V251A probably damaging Het
Rgs6 T C 12: 83,091,779 Y296H probably damaging Het
Rhpn1 A G 15: 75,712,396 T446A unknown Het
Rtn3 A G 19: 7,457,929 S233P probably damaging Het
Rwdd1 A C 10: 34,001,138 D203E probably benign Het
Samd9l A G 6: 3,376,754 V169A probably benign Het
Slfn5 T C 11: 82,961,484 L812P probably damaging Het
Smc1b T C 15: 85,070,820 D1077G possibly damaging Het
Snrnp48 A G 13: 38,209,961 R81G probably damaging Het
Syt17 A T 7: 118,434,459 probably null Het
Tpsg1 G T 17: 25,373,210 G86V probably damaging Het
Ttc3 T C 16: 94,427,838 I757T probably benign Het
Urb1 CACTTAC CAC 16: 90,772,573 probably benign Het
Wdr54 C T 6: 83,152,858 V305M possibly damaging Het
Xirp2 C T 2: 67,525,962 T3689I possibly damaging Het
Zscan18 T C 7: 12,769,310 K774R probably damaging Het
Other mutations in Adtrp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Adtrp APN 13 41777602 missense probably benign 0.06
PIT4810001:Adtrp UTSW 13 41828248 nonsense probably null
R0008:Adtrp UTSW 13 41767465 missense probably damaging 1.00
R0606:Adtrp UTSW 13 41767405 missense probably damaging 1.00
R1165:Adtrp UTSW 13 41814303 missense probably damaging 0.99
R1183:Adtrp UTSW 13 41828337 utr 5 prime probably benign
R2030:Adtrp UTSW 13 41828259 missense probably damaging 0.98
R2169:Adtrp UTSW 13 41767429 missense possibly damaging 0.89
R4722:Adtrp UTSW 13 41767347 missense probably benign 0.03
R5171:Adtrp UTSW 13 41777563 missense probably damaging 1.00
R5892:Adtrp UTSW 13 41828206 missense probably benign 0.04
R6607:Adtrp UTSW 13 41777611 missense probably benign 0.00
R7074:Adtrp UTSW 13 41828141 critical splice donor site probably null
R7454:Adtrp UTSW 13 41828315 missense unknown
R8007:Adtrp UTSW 13 41816231 missense probably damaging 1.00
R8272:Adtrp UTSW 13 41816154 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTGGATGATGCTAGACAATGC -3'
(R):5'- TCTCAAGCCAACATTGCTCC -3'

Sequencing Primer
(F):5'- TGATGCTAGACAATGCAGTCAGTCC -3'
(R):5'- AACATTGCTCCCAGAGGGC -3'
Posted On2019-10-24