Incidental Mutation 'R6604:Pramel28'
ID 525529
Institutional Source Beutler Lab
Gene Symbol Pramel28
Ensembl Gene ENSMUSG00000078510
Gene Name PRAME like 28
Synonyms Gm13101
MMRRC Submission 044727-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R6604 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 143691088-143693520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143692567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 145 (R145G)
Ref Sequence ENSEMBL: ENSMUSP00000101389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105763]
AlphaFold A2ASJ0
Predicted Effect probably benign
Transcript: ENSMUST00000105763
AA Change: R145G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000101389
Gene: ENSMUSG00000078510
AA Change: R145G

DomainStartEndE-ValueType
SCOP:d1a4ya_ 210 414 2e-9 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik A G 15: 37,439,823 (GRCm39) probably benign Het
Abca13 T G 11: 9,328,384 (GRCm39) F3486V probably damaging Het
Adcy9 A G 16: 4,122,271 (GRCm39) L830P probably damaging Het
Aurkb T A 11: 68,939,388 (GRCm39) L157* probably null Het
Bbs10 T G 10: 111,136,965 (GRCm39) L693V possibly damaging Het
Dna2 G T 10: 62,803,522 (GRCm39) probably null Het
Efcab3 T A 11: 104,589,772 (GRCm39) L123* probably null Het
Ext1 A G 15: 52,946,555 (GRCm39) F550L probably damaging Het
Gm5129 A G 5: 29,940,765 (GRCm39) probably benign Het
Golm1 A G 13: 59,786,197 (GRCm39) Y332H probably damaging Het
Gpbp1l1 C T 4: 116,430,702 (GRCm39) P58S probably benign Het
Grk4 A T 5: 34,877,208 (GRCm39) D301V probably damaging Het
Haus1 T C 18: 77,851,797 (GRCm39) E106G probably damaging Het
Hpd T C 5: 123,318,964 (GRCm39) probably null Het
Kcnj6 C A 16: 94,563,504 (GRCm39) E313D probably damaging Het
Lmna A G 3: 88,395,589 (GRCm39) V57A probably damaging Het
Lrrtm1 T C 6: 77,221,221 (GRCm39) F226S possibly damaging Het
Otogl T C 10: 107,657,895 (GRCm39) probably null Het
Pgr A C 9: 8,946,867 (GRCm39) T703P possibly damaging Het
Ppig T C 2: 69,571,925 (GRCm39) S215P unknown Het
Rasgrp3 A C 17: 75,810,110 (GRCm39) N270T probably benign Het
Rp1 C A 1: 4,089,351 (GRCm39) K1305N unknown Het
Shc1 A G 3: 89,329,186 (GRCm39) Y10C probably damaging Het
Slc12a1 G T 2: 125,026,735 (GRCm39) D457Y probably damaging Het
Sncaip A G 18: 53,038,918 (GRCm39) Q544R possibly damaging Het
Socs5 T C 17: 87,442,553 (GRCm39) Y498H probably damaging Het
Szt2 T C 4: 118,242,671 (GRCm39) D1472G probably benign Het
Tmem163 A G 1: 127,419,347 (GRCm39) M286T possibly damaging Het
Tmem236 A G 2: 14,179,512 (GRCm39) T38A probably benign Het
Vmn2r29 A T 7: 7,234,858 (GRCm39) V676E probably damaging Het
Vps13d A G 4: 144,907,694 (GRCm39) V56A probably damaging Het
Xirp2 T C 2: 67,340,189 (GRCm39) I810T possibly damaging Het
Zfp958 T C 8: 4,678,245 (GRCm39) L90P probably damaging Het
Other mutations in Pramel28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Pramel28 APN 4 143,693,184 (GRCm39) splice site probably benign
IGL00688:Pramel28 APN 4 143,692,392 (GRCm39) missense possibly damaging 0.62
IGL00690:Pramel28 APN 4 143,692,392 (GRCm39) missense possibly damaging 0.62
IGL00693:Pramel28 APN 4 143,692,392 (GRCm39) missense possibly damaging 0.62
IGL00694:Pramel28 APN 4 143,692,392 (GRCm39) missense possibly damaging 0.62
IGL01412:Pramel28 APN 4 143,691,565 (GRCm39) missense probably damaging 1.00
IGL01781:Pramel28 APN 4 143,692,299 (GRCm39) missense probably benign
IGL02426:Pramel28 APN 4 143,693,229 (GRCm39) missense possibly damaging 0.75
IGL02508:Pramel28 APN 4 143,691,590 (GRCm39) missense probably benign 0.13
IGL03338:Pramel28 APN 4 143,692,608 (GRCm39) missense probably benign 0.03
IGL03338:Pramel28 APN 4 143,692,411 (GRCm39) missense probably benign 0.01
R0201:Pramel28 UTSW 4 143,691,460 (GRCm39) missense probably damaging 1.00
R0325:Pramel28 UTSW 4 143,693,310 (GRCm39) missense probably damaging 1.00
R0538:Pramel28 UTSW 4 143,691,653 (GRCm39) missense possibly damaging 0.76
R1471:Pramel28 UTSW 4 143,691,523 (GRCm39) missense probably benign 0.25
R1544:Pramel28 UTSW 4 143,692,632 (GRCm39) missense probably benign 0.00
R1891:Pramel28 UTSW 4 143,693,235 (GRCm39) missense probably damaging 1.00
R2012:Pramel28 UTSW 4 143,692,637 (GRCm39) missense probably benign 0.00
R2105:Pramel28 UTSW 4 143,692,390 (GRCm39) missense probably benign
R2939:Pramel28 UTSW 4 143,693,247 (GRCm39) missense probably benign 0.00
R2940:Pramel28 UTSW 4 143,693,247 (GRCm39) missense probably benign 0.00
R3723:Pramel28 UTSW 4 143,693,251 (GRCm39) missense probably benign
R3952:Pramel28 UTSW 4 143,692,356 (GRCm39) nonsense probably null
R4028:Pramel28 UTSW 4 143,692,354 (GRCm39) missense probably benign 0.02
R4029:Pramel28 UTSW 4 143,692,354 (GRCm39) missense probably benign 0.02
R4030:Pramel28 UTSW 4 143,692,354 (GRCm39) missense probably benign 0.02
R5059:Pramel28 UTSW 4 143,691,565 (GRCm39) missense probably damaging 0.99
R5222:Pramel28 UTSW 4 143,691,362 (GRCm39) missense possibly damaging 0.55
R5591:Pramel28 UTSW 4 143,691,530 (GRCm39) missense probably damaging 1.00
R5677:Pramel28 UTSW 4 143,691,708 (GRCm39) missense possibly damaging 0.59
R6021:Pramel28 UTSW 4 143,692,336 (GRCm39) missense probably benign
R6042:Pramel28 UTSW 4 143,692,631 (GRCm39) missense probably benign 0.04
R6155:Pramel28 UTSW 4 143,691,712 (GRCm39) missense probably benign 0.00
R6807:Pramel28 UTSW 4 143,691,581 (GRCm39) missense probably damaging 1.00
R7244:Pramel28 UTSW 4 143,692,455 (GRCm39) missense probably benign
R7505:Pramel28 UTSW 4 143,691,556 (GRCm39) missense probably benign 0.00
R7526:Pramel28 UTSW 4 143,692,387 (GRCm39) missense probably benign 0.00
R8121:Pramel28 UTSW 4 143,691,611 (GRCm39) missense probably benign 0.01
R8408:Pramel28 UTSW 4 143,692,212 (GRCm39) missense probably benign
R8890:Pramel28 UTSW 4 143,691,494 (GRCm39) missense probably benign 0.10
R8989:Pramel28 UTSW 4 143,691,770 (GRCm39) missense probably benign 0.04
R9054:Pramel28 UTSW 4 143,692,314 (GRCm39) missense probably benign 0.18
R9622:Pramel28 UTSW 4 143,692,348 (GRCm39) missense probably benign 0.00
Z1088:Pramel28 UTSW 4 143,692,132 (GRCm39) missense probably benign
Z1177:Pramel28 UTSW 4 143,692,345 (GRCm39) missense probably benign 0.02
Z1177:Pramel28 UTSW 4 143,692,161 (GRCm39) missense probably benign 0.42
Predicted Primers PCR Primer
(F):5'- CAACTCCTCAATGCAATATGGTTGG -3'
(R):5'- AAGCTGGCTAATGTGTCTGG -3'

Sequencing Primer
(F):5'- GAAAATCTGCAAGATCTTCCTGACAG -3'
(R):5'- AATGTGTCTGGTCTTTTGTATCTTCC -3'
Posted On 2018-06-22