Incidental Mutation 'R4630:Pradc1'
ID349108
Institutional Source Beutler Lab
Gene Symbol Pradc1
Ensembl Gene ENSMUSG00000030008
Gene Nameprotease-associated domain containing 1
Synonyms1700040I03Rik
MMRRC Submission 041895-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.190) question?
Stock #R4630 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location85446810-85451970 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 85447293 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 24 (M24L)
Ref Sequence ENSEMBL: ENSMUSP00000145290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032078] [ENSMUST00000032080] [ENSMUST00000045693] [ENSMUST00000113770] [ENSMUST00000126805] [ENSMUST00000204489] [ENSMUST00000204592]
Predicted Effect probably benign
Transcript: ENSMUST00000032078
SMART Domains Protein: ENSMUSP00000032078
Gene: ENSMUSG00000030007

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 32 524 1.8e-163 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000032080
AA Change: M151L

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032080
Gene: ENSMUSG00000030008
AA Change: M151L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:PA 61 154 4.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045693
SMART Domains Protein: ENSMUSP00000048537
Gene: ENSMUSG00000033706

DomainStartEndE-ValueType
SET 21 357 8.15e-14 SMART
low complexity region 392 412 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113770
AA Change: M95L

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109400
Gene: ENSMUSG00000030008
AA Change: M95L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122907
Predicted Effect possibly damaging
Transcript: ENSMUST00000126805
AA Change: M24L

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145290
Gene: ENSMUSG00000030008
AA Change: M24L

DomainStartEndE-ValueType
SCOP:d1a9xa2 20 54 9e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134405
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146086
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153749
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156322
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203934
Predicted Effect probably benign
Transcript: ENSMUST00000204489
SMART Domains Protein: ENSMUSP00000144919
Gene: ENSMUSG00000030007

DomainStartEndE-ValueType
PDB:4B2T|H 1 53 2e-29 PDB
Blast:VWA 5 51 4e-7 BLAST
SCOP:d1a6da1 16 51 2e-8 SMART
low complexity region 68 80 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204592
SMART Domains Protein: ENSMUSP00000144893
Gene: ENSMUSG00000030007

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 32 91 6e-21 PFAM
Pfam:Cpn60_TCP1 88 482 5e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205094
Meta Mutation Damage Score 0.13 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (74/76)
MGI Phenotype PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation results in increased mean serum glucose levels in both males and females when compared with controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T C 13: 63,068,092 S393P probably benign Het
3110001I22Rik T C 16: 13,677,414 S126P probably damaging Het
3110070M22Rik A T 13: 119,488,086 probably benign Het
4833423E24Rik C A 2: 85,518,646 G41* probably null Het
Alkbh2 C T 5: 114,124,226 E148K probably damaging Het
BC024139 T G 15: 76,125,094 Q240P probably benign Het
Bckdha A T 7: 25,631,459 I44N probably damaging Het
Brpf1 T C 6: 113,309,906 Y32H probably damaging Het
Catip A G 1: 74,368,913 probably benign Het
Ccdc138 T C 10: 58,573,655 L602P probably damaging Het
Cilp A T 9: 65,279,880 T1086S probably benign Het
Comp A T 8: 70,374,382 I58F possibly damaging Het
Crygs T C 16: 22,805,518 E113G possibly damaging Het
Dnmt3b C T 2: 153,670,315 R319* probably null Het
Eif3a A G 19: 60,769,928 I804T unknown Het
Eif3a A T 19: 60,777,986 H301Q probably benign Het
Elf3 A T 1: 135,256,740 probably benign Het
Gm10384 A G 15: 36,871,773 noncoding transcript Het
Gm11627 T A 11: 102,578,831 probably benign Het
Gpr183 A T 14: 121,954,849 Y87N probably damaging Het
Gpr183 G C 14: 121,954,850 Y86* probably null Het
Gpr26 T C 7: 131,966,980 V18A probably damaging Het
Herc1 T A 9: 66,433,714 probably null Het
Hint2 C T 4: 43,656,396 probably benign Het
Jag1 A T 2: 137,085,979 D837E probably damaging Het
Jmjd1c C A 10: 67,157,974 S78* probably null Het
Kcnd3 C T 3: 105,658,766 A421V probably damaging Het
Krt1 C T 15: 101,846,187 G543S unknown Het
Lalba T C 15: 98,482,668 M2V probably benign Het
Lama1 T A 17: 67,794,300 D1929E probably benign Het
Macf1 T C 4: 123,473,639 K878R possibly damaging Het
Mboat4 T C 8: 34,123,954 S182P probably damaging Het
Muc5b A T 7: 141,857,984 T1556S unknown Het
Myo1g T C 11: 6,519,047 Y85C probably damaging Het
Ncapd2 C A 6: 125,179,233 probably null Het
Nox3 T C 17: 3,693,982 D96G possibly damaging Het
Olfr23 T C 11: 73,940,996 L250P probably damaging Het
Olfr514 T C 7: 108,825,595 M135V probably damaging Het
Olfr805 A G 10: 129,723,481 L21P probably damaging Het
Pacs1 C T 19: 5,156,356 probably null Het
Pgm5 C A 19: 24,834,746 G141* probably null Het
Pik3r4 A G 9: 105,654,899 M557V probably benign Het
Pld4 T A 12: 112,765,064 V217D probably damaging Het
Ppp1r3c T C 19: 36,733,515 E285G probably benign Het
Prepl T C 17: 85,083,231 T100A probably benign Het
Rmi2 C T 16: 10,886,209 T138I probably benign Het
Rtkn A T 6: 83,152,182 K540* probably null Het
Sag C A 1: 87,834,618 T335K probably damaging Het
Setd4 A G 16: 93,591,226 L124P probably benign Het
Sh3gl2 A G 4: 85,379,409 D208G probably damaging Het
Sult4a1 T C 15: 84,105,578 T8A possibly damaging Het
Tert A G 13: 73,648,991 D1116G probably damaging Het
Tlr4 A G 4: 66,839,240 E90G probably benign Het
Tmem123 T C 9: 7,791,392 L164P probably damaging Het
Tmem246 C G 4: 49,586,254 V305L probably benign Het
Top2b T G 14: 16,409,189 I777M probably damaging Het
Trak1 G A 9: 121,454,425 R419Q probably benign Het
Trp53bp1 G T 2: 121,207,887 A1490D probably damaging Het
Ttc16 T C 2: 32,775,377 probably benign Het
Tyw5 T A 1: 57,388,527 Q306L probably damaging Het
Ube2j2 T A 4: 155,955,258 I14N probably damaging Het
Vmn2r103 T C 17: 19,793,696 I250T probably benign Het
Zar1 A G 5: 72,580,906 V51A probably benign Het
Zbtb38 T G 9: 96,688,851 N60T probably damaging Het
Zfp354a T C 11: 51,070,218 S417P probably damaging Het
Zfp410 A T 12: 84,325,736 D112V probably damaging Het
Zfp518a C T 19: 40,912,979 Q451* probably null Het
Zfp64 T C 2: 168,926,543 N383S possibly damaging Het
Zfp687 A T 3: 95,012,488 probably null Het
Other mutations in Pradc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Pradc1 APN 6 85447966 unclassified probably null
R0010:Pradc1 UTSW 6 85447231 missense probably damaging 1.00
R0010:Pradc1 UTSW 6 85447620 missense probably damaging 1.00
R1581:Pradc1 UTSW 6 85448586 missense probably damaging 0.99
R1758:Pradc1 UTSW 6 85447221 missense possibly damaging 0.84
R4791:Pradc1 UTSW 6 85447191 missense probably damaging 1.00
R7269:Pradc1 UTSW 6 85447566 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GGGTTTCCTCTTCCCATGAG -3'
(R):5'- ACGCACAGCTGACATTCCTG -3'

Sequencing Primer
(F):5'- ATGAGTCACTTGTCACTGGAACCTG -3'
(R):5'- CTTCTGGCTGGCCATGCTG -3'
Posted On2015-10-08