Incidental Mutation 'IGL00741:Pamr1'
ID12901
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pamr1
Ensembl Gene ENSMUSG00000027188
Gene Namepeptidase domain containing associated with muscle regeneration 1
SynonymsRAMP, E430002G05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL00741
Quality Score
Status
Chromosome2
Chromosomal Location102550012-102643041 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 102586621 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 93 (S93R)
Ref Sequence ENSEMBL: ENSMUSP00000028612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028612]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028612
AA Change: S93R

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000028612
Gene: ENSMUSG00000027188
AA Change: S93R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
EGF 84 126 1.18e1 SMART
CUB 128 236 1.07e-33 SMART
EGF 238 272 4.12e-7 SMART
CCP 280 342 1.3e-9 SMART
CCP 389 442 6.7e-3 SMART
Tryp_SPc 444 715 1.02e-34 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144333
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T A 6: 40,964,834 probably benign Het
Abcc9 A C 6: 142,687,230 V262G probably benign Het
Adamtsl1 T C 4: 86,276,948 V534A probably damaging Het
Arhgap31 A G 16: 38,603,001 V901A probably damaging Het
C3 A G 17: 57,220,206 probably benign Het
Chd7 T C 4: 8,839,454 V1330A probably damaging Het
Dopey1 A G 9: 86,522,806 T255A possibly damaging Het
Eef1a2 T C 2: 181,153,010 Q132R possibly damaging Het
Tacc3 A G 5: 33,669,640 Y531C probably damaging Het
Tcerg1 A G 18: 42,568,453 E860G possibly damaging Het
Tmco4 T A 4: 138,996,574 probably null Het
Zfyve16 A G 13: 92,524,253 L16P probably damaging Het
Other mutations in Pamr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Pamr1 APN 2 102642272 missense possibly damaging 0.80
IGL00928:Pamr1 APN 2 102639341 missense probably benign 0.01
IGL01328:Pamr1 APN 2 102642137 missense probably benign 0.00
IGL02621:Pamr1 APN 2 102634343 missense probably benign 0.03
IGL02732:Pamr1 APN 2 102642141 missense probably benign 0.03
R0020:Pamr1 UTSW 2 102642078 missense probably benign 0.19
R0743:Pamr1 UTSW 2 102609907 missense probably damaging 1.00
R1068:Pamr1 UTSW 2 102642245 missense probably damaging 1.00
R1127:Pamr1 UTSW 2 102639353 missense possibly damaging 0.81
R1711:Pamr1 UTSW 2 102640852 missense probably benign 0.28
R1912:Pamr1 UTSW 2 102642300 missense probably damaging 1.00
R1926:Pamr1 UTSW 2 102640997 splice site probably null
R1937:Pamr1 UTSW 2 102642272 missense possibly damaging 0.80
R2021:Pamr1 UTSW 2 102634535 missense probably benign 0.00
R2023:Pamr1 UTSW 2 102634535 missense probably benign 0.00
R4718:Pamr1 UTSW 2 102642336 missense probably damaging 1.00
R4934:Pamr1 UTSW 2 102642204 missense probably benign 0.21
R5268:Pamr1 UTSW 2 102586684 missense probably damaging 0.98
R5450:Pamr1 UTSW 2 102639317 missense probably damaging 0.98
R5864:Pamr1 UTSW 2 102634348 missense possibly damaging 0.91
R6112:Pamr1 UTSW 2 102611608 missense probably damaging 1.00
R6286:Pamr1 UTSW 2 102640948 nonsense probably null
R6327:Pamr1 UTSW 2 102642174 missense probably damaging 1.00
R6831:Pamr1 UTSW 2 102614931 missense probably damaging 0.97
R6834:Pamr1 UTSW 2 102614931 missense probably damaging 0.97
R6980:Pamr1 UTSW 2 102642204 missense probably benign 0.21
R7000:Pamr1 UTSW 2 102611623 missense probably damaging 1.00
R7073:Pamr1 UTSW 2 102640935 missense probably benign 0.00
R7255:Pamr1 UTSW 2 102611584 missense probably damaging 1.00
R7357:Pamr1 UTSW 2 102586704 nonsense probably null
R7851:Pamr1 UTSW 2 102586600 missense probably benign 0.02
R8745:Pamr1 UTSW 2 102611579 missense probably damaging 1.00
R8766:Pamr1 UTSW 2 102550193 start codon destroyed probably null 0.90
R8817:Pamr1 UTSW 2 102634421 missense probably benign 0.05
X0067:Pamr1 UTSW 2 102639335 nonsense probably null
Z1088:Pamr1 UTSW 2 102634446 missense possibly damaging 0.84
Posted On2012-12-06