Incidental Mutation 'IGL02621:Pamr1'
ID 300867
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pamr1
Ensembl Gene ENSMUSG00000027188
Gene Name peptidase domain containing associated with muscle regeneration 1
Synonyms E430002G05Rik, RAMP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL02621
Quality Score
Status
Chromosome 2
Chromosomal Location 102380357-102473386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102464688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 279 (N279S)
Ref Sequence ENSEMBL: ENSMUSP00000028612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028612]
AlphaFold Q8BU25
Predicted Effect probably benign
Transcript: ENSMUST00000028612
AA Change: N279S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000028612
Gene: ENSMUSG00000027188
AA Change: N279S

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: ENSMUST00000143071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144333
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002L01Rik C A 12: 3,476,688 (GRCm39) probably benign Het
2210408I21Rik T C 13: 77,408,150 (GRCm39) I159T possibly damaging Het
Agpat3 T A 10: 78,120,900 (GRCm39) I93F probably damaging Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Atr G A 9: 95,790,453 (GRCm39) A1598T probably benign Het
Bltp1 T A 3: 37,095,633 (GRCm39) probably benign Het
Clk1 T C 1: 58,453,614 (GRCm39) D324G probably damaging Het
Cntnap4 A T 8: 113,537,355 (GRCm39) D742V probably damaging Het
Esrrb A G 12: 86,468,735 (GRCm39) N16S probably benign Het
Grm1 A T 10: 10,564,755 (GRCm39) Y1184* probably null Het
Hint1 G T 11: 54,761,011 (GRCm39) probably benign Het
Itch A T 2: 155,014,504 (GRCm39) probably null Het
Lmod3 T C 6: 97,215,796 (GRCm39) probably benign Het
Map3k4 C A 17: 12,482,900 (GRCm39) A606S probably damaging Het
Mapk4 A T 18: 74,103,346 (GRCm39) S54R probably damaging Het
Megf11 A G 9: 64,601,214 (GRCm39) D807G probably benign Het
Mgat5 A G 1: 127,325,326 (GRCm39) T398A possibly damaging Het
Nme8 T G 13: 19,859,818 (GRCm39) K28N probably damaging Het
Pcca A T 14: 122,922,391 (GRCm39) D384V probably damaging Het
Prkag1 A T 15: 98,711,909 (GRCm39) I239N probably damaging Het
Psme4 A G 11: 30,798,131 (GRCm39) T1375A probably benign Het
Ptk2 A C 15: 73,077,994 (GRCm39) L1024R probably damaging Het
Rere G A 4: 150,698,269 (GRCm39) probably benign Het
Scn2a A G 2: 65,579,223 (GRCm39) probably benign Het
Sema5a T A 15: 32,538,802 (GRCm39) probably benign Het
Shoc1 A T 4: 59,062,668 (GRCm39) W863R probably damaging Het
Slc9a1 T A 4: 133,097,879 (GRCm39) W9R probably benign Het
Slco1a5 T A 6: 142,187,741 (GRCm39) M533L probably benign Het
Ttll4 T A 1: 74,726,643 (GRCm39) S720T probably damaging Het
Vmn1r168 A T 7: 23,240,780 (GRCm39) R212S probably damaging Het
Vmn2r114 T C 17: 23,529,494 (GRCm39) I203V probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Other mutations in Pamr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Pamr1 APN 2 102,472,617 (GRCm39) missense possibly damaging 0.80
IGL00741:Pamr1 APN 2 102,416,966 (GRCm39) missense possibly damaging 0.62
IGL00928:Pamr1 APN 2 102,469,686 (GRCm39) missense probably benign 0.01
IGL01328:Pamr1 APN 2 102,472,482 (GRCm39) missense probably benign 0.00
IGL02732:Pamr1 APN 2 102,472,486 (GRCm39) missense probably benign 0.03
R0020:Pamr1 UTSW 2 102,472,423 (GRCm39) missense probably benign 0.19
R0743:Pamr1 UTSW 2 102,440,252 (GRCm39) missense probably damaging 1.00
R1068:Pamr1 UTSW 2 102,472,590 (GRCm39) missense probably damaging 1.00
R1127:Pamr1 UTSW 2 102,469,698 (GRCm39) missense possibly damaging 0.81
R1711:Pamr1 UTSW 2 102,471,197 (GRCm39) missense probably benign 0.28
R1912:Pamr1 UTSW 2 102,472,645 (GRCm39) missense probably damaging 1.00
R1926:Pamr1 UTSW 2 102,471,342 (GRCm39) splice site probably null
R1937:Pamr1 UTSW 2 102,472,617 (GRCm39) missense possibly damaging 0.80
R2021:Pamr1 UTSW 2 102,464,880 (GRCm39) missense probably benign 0.00
R2023:Pamr1 UTSW 2 102,464,880 (GRCm39) missense probably benign 0.00
R4718:Pamr1 UTSW 2 102,472,681 (GRCm39) missense probably damaging 1.00
R4934:Pamr1 UTSW 2 102,472,549 (GRCm39) missense probably benign 0.21
R5268:Pamr1 UTSW 2 102,417,029 (GRCm39) missense probably damaging 0.98
R5450:Pamr1 UTSW 2 102,469,662 (GRCm39) missense probably damaging 0.98
R5864:Pamr1 UTSW 2 102,464,693 (GRCm39) missense possibly damaging 0.91
R6112:Pamr1 UTSW 2 102,441,953 (GRCm39) missense probably damaging 1.00
R6286:Pamr1 UTSW 2 102,471,293 (GRCm39) nonsense probably null
R6327:Pamr1 UTSW 2 102,472,519 (GRCm39) missense probably damaging 1.00
R6831:Pamr1 UTSW 2 102,445,276 (GRCm39) missense probably damaging 0.97
R6834:Pamr1 UTSW 2 102,445,276 (GRCm39) missense probably damaging 0.97
R6980:Pamr1 UTSW 2 102,472,549 (GRCm39) missense probably benign 0.21
R7000:Pamr1 UTSW 2 102,441,968 (GRCm39) missense probably damaging 1.00
R7073:Pamr1 UTSW 2 102,471,280 (GRCm39) missense probably benign 0.00
R7255:Pamr1 UTSW 2 102,441,929 (GRCm39) missense probably damaging 1.00
R7357:Pamr1 UTSW 2 102,417,049 (GRCm39) nonsense probably null
R7851:Pamr1 UTSW 2 102,416,945 (GRCm39) missense probably benign 0.02
R8745:Pamr1 UTSW 2 102,441,924 (GRCm39) missense probably damaging 1.00
R8766:Pamr1 UTSW 2 102,380,538 (GRCm39) start codon destroyed probably null 0.90
R8817:Pamr1 UTSW 2 102,464,766 (GRCm39) missense probably benign 0.05
R8964:Pamr1 UTSW 2 102,464,811 (GRCm39) missense possibly damaging 0.65
R8977:Pamr1 UTSW 2 102,441,963 (GRCm39) missense probably damaging 0.96
R9081:Pamr1 UTSW 2 102,441,933 (GRCm39) missense probably damaging 1.00
R9139:Pamr1 UTSW 2 102,464,766 (GRCm39) missense probably benign 0.19
X0067:Pamr1 UTSW 2 102,469,680 (GRCm39) nonsense probably null
Z1088:Pamr1 UTSW 2 102,464,791 (GRCm39) missense possibly damaging 0.84
Posted On 2015-04-16