Incidental Mutation 'R1127:Pamr1'
ID 96260
Institutional Source Beutler Lab
Gene Symbol Pamr1
Ensembl Gene ENSMUSG00000027188
Gene Name peptidase domain containing associated with muscle regeneration 1
Synonyms E430002G05Rik, RAMP
MMRRC Submission 039200-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R1127 (G1)
Quality Score 158
Status Not validated
Chromosome 2
Chromosomal Location 102380357-102473386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102469698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 415 (I415F)
Ref Sequence ENSEMBL: ENSMUSP00000028612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028612]
AlphaFold Q8BU25
Predicted Effect possibly damaging
Transcript: ENSMUST00000028612
AA Change: I415F

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028612
Gene: ENSMUSG00000027188
AA Change: I415F

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
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.1%
  • 20x: 80.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,019,403 (GRCm39) D179G probably benign Het
Aadacl2fm2 G A 3: 59,659,314 (GRCm39) E256K probably benign Het
Adh7 C T 3: 137,927,490 (GRCm39) A12V probably benign Het
Ankhd1 T A 18: 36,767,399 (GRCm39) N1179K probably damaging Het
Ankrd50 T C 3: 38,511,336 (GRCm39) T344A probably benign Het
Aplf T C 6: 87,623,273 (GRCm39) T269A probably benign Het
Cavin4 T C 4: 48,663,637 (GRCm39) S6P probably damaging Het
Ces2g T C 8: 105,694,094 (GRCm39) probably null Het
Cyp2c66 A T 19: 39,151,812 (GRCm39) N176Y probably damaging Het
Dnah3 T A 7: 119,522,253 (GRCm39) D3980V probably damaging Het
Drc7 G T 8: 95,799,416 (GRCm39) E530D probably damaging Het
Dst A G 1: 34,314,358 (GRCm39) T6434A probably damaging Het
Dtx3l A G 16: 35,759,127 (GRCm39) S41P possibly damaging Het
Eef1b2 G A 1: 63,218,616 (GRCm39) probably null Het
Eml3 C T 19: 8,913,672 (GRCm39) T43I probably damaging Het
Fam110b T A 4: 5,799,434 (GRCm39) L284Q probably damaging Het
Gpr33 A C 12: 52,070,252 (GRCm39) H262Q probably damaging Het
Igfals T G 17: 25,099,455 (GRCm39) L182R probably damaging Het
Lamc1 A G 1: 153,126,205 (GRCm39) F496L possibly damaging Het
Muc4 T A 16: 32,569,343 (GRCm39) H134Q possibly damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nxn A T 11: 76,164,895 (GRCm39) C205* probably null Het
Oga G A 19: 45,740,594 (GRCm39) R914* probably null Het
Or11l3 T C 11: 58,516,284 (GRCm39) E196G probably damaging Het
Or52h9 C A 7: 104,202,293 (GRCm39) H56N possibly damaging Het
Ppp4r4 G A 12: 103,545,327 (GRCm39) G200E probably damaging Het
Pramel29 G A 4: 143,933,694 (GRCm39) T471I probably damaging Het
Prdm16 C A 4: 154,613,256 (GRCm39) S57I probably damaging Het
Psmd11 A G 11: 80,362,410 (GRCm39) K157R possibly damaging Het
Ptprn2 G A 12: 117,175,628 (GRCm39) probably null Het
Pus7 G A 5: 23,973,793 (GRCm39) H234Y probably benign Het
Rd3l A G 12: 111,946,717 (GRCm39) Y20H probably benign Het
Stk31 A G 6: 49,386,141 (GRCm39) D160G probably damaging Het
Sycp2 C T 2: 178,016,159 (GRCm39) E768K possibly damaging Het
Tango6 T C 8: 107,415,527 (GRCm39) V116A probably benign Het
Ttn C T 2: 76,697,574 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Xylb T C 9: 119,212,443 (GRCm39) I427T probably damaging Het
Zc3h7a T G 16: 10,956,939 (GRCm39) D890A 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
IGL02621:Pamr1 APN 2 102,464,688 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- TGGGAACTGGATGCTAAAGTCTTGC -3'
(R):5'- ATCGATGGGAGAAAATCCCCTTGC -3'

Sequencing Primer
(F):5'- AACTGGATGCTAAAGTCTTGCTTTTG -3'
(R):5'- GGAGAAAATCCCCTTGCTCAATTAAG -3'
Posted On 2014-01-05