Incidental Mutation 'R2939:Pramel28'
ID 264560
Institutional Source Beutler Lab
Gene Symbol Pramel28
Ensembl Gene ENSMUSG00000078510
Gene Name PRAME like 28
Synonyms Gm13101
MMRRC Submission 040516-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R2939 (G1)
Quality Score 216
Status Validated
Chromosome 4
Chromosomal Location 143691088-143693520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143693247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 77 (V77A)
Ref Sequence ENSEMBL: ENSMUSP00000101389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105763]
AlphaFold A2ASJ0
Predicted Effect probably benign
Transcript: ENSMUST00000105763
AA Change: V77A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101389
Gene: ENSMUSG00000078510
AA Change: V77A

DomainStartEndE-ValueType
SCOP:d1a4ya_ 210 414 2e-9 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,808,409 (GRCm39) Y911H possibly damaging Het
Arhgef26 A C 3: 62,288,331 (GRCm39) K467T possibly damaging Het
Armcx6 A T X: 133,650,625 (GRCm39) W69R probably damaging Het
Asl T C 5: 130,042,245 (GRCm39) Y277C probably damaging Het
Atm T C 9: 53,406,011 (GRCm39) Y1219C probably damaging Het
Azin2 C T 4: 128,828,397 (GRCm39) C270Y probably benign Het
Brsk1 A T 7: 4,711,139 (GRCm39) I545F possibly damaging Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Cfap410 A G 10: 77,817,507 (GRCm39) N78S probably benign Het
Cfap69 G A 5: 5,694,432 (GRCm39) A143V probably damaging Het
Cldn14 T C 16: 93,716,192 (GRCm39) K218R probably damaging Het
Col5a3 T C 9: 20,706,954 (GRCm39) K714R unknown Het
Crybg2 A G 4: 133,809,745 (GRCm39) H1517R possibly damaging Het
Dagla A C 19: 10,233,728 (GRCm39) F382C probably damaging Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Eif5 T C 12: 111,506,713 (GRCm39) C102R probably damaging Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fhdc1 A G 3: 84,364,577 (GRCm39) V223A possibly damaging Het
Garin4 T C 1: 190,896,103 (GRCm39) D180G possibly damaging Het
Gpatch8 A G 11: 102,399,010 (GRCm39) V74A unknown Het
Haghl A G 17: 26,004,060 (GRCm39) V8A possibly damaging Het
Ksr1 A G 11: 78,936,007 (GRCm39) probably null Het
Lama5 A C 2: 179,840,747 (GRCm39) Y584D probably damaging Het
Lgi4 C T 7: 30,767,253 (GRCm39) R427* probably null Het
Lrriq1 T A 10: 102,980,750 (GRCm39) S1462C probably damaging Het
Map3k4 C T 17: 12,480,157 (GRCm39) E682K probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nherf1 C T 11: 115,071,270 (GRCm39) R335C probably damaging Het
Nmnat2 C A 1: 152,950,474 (GRCm39) S53Y probably damaging Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pcsk7 C T 9: 45,827,322 (GRCm39) A363V probably damaging Het
Pdrg1 C T 2: 152,854,355 (GRCm39) G62R probably damaging Het
Pdzd7 A G 19: 45,033,862 (GRCm39) I74T possibly damaging Het
Plcb4 T C 2: 135,781,123 (GRCm39) probably benign Het
Rnf25 A G 1: 74,635,047 (GRCm39) V135A possibly damaging Het
Rph3a A G 5: 121,118,212 (GRCm39) probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Senp6 G A 9: 80,051,124 (GRCm39) A1134T probably benign Het
Slc1a6 G T 10: 78,650,448 (GRCm39) *562L probably null Het
Slc26a6 G A 9: 108,734,236 (GRCm39) V206I probably benign Het
Slc45a3 A G 1: 131,905,637 (GRCm39) E206G probably damaging Het
Smc1a T A X: 150,816,695 (GRCm39) Y516N probably damaging Het
Smpd3 A G 8: 106,984,039 (GRCm39) V560A probably benign Het
Spata31g1 A G 4: 42,972,946 (GRCm39) K760E probably benign Het
Ssc4d T C 5: 135,994,578 (GRCm39) T51A possibly damaging Het
Suco A G 1: 161,676,220 (GRCm39) I386T probably damaging Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Tmprss11e G A 5: 86,869,266 (GRCm39) R96W probably damaging Het
Trim63 T C 4: 134,050,308 (GRCm39) probably benign Het
Trpv1 A G 11: 73,145,675 (GRCm39) K403R probably damaging Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Unc79 C T 12: 102,957,684 (GRCm39) T33I probably damaging Het
Usp47 G A 7: 111,681,743 (GRCm39) S518N probably damaging Het
Vmn2r22 T A 6: 123,614,594 (GRCm39) D332V probably damaging Het
Vmn2r55 A G 7: 12,385,832 (GRCm39) L716P probably damaging Het
Zfp558 T C 9: 18,367,924 (GRCm39) N288S possibly 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
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
R6604:Pramel28 UTSW 4 143,692,567 (GRCm39) missense probably benign 0.02
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'- TCCAGGACAGTGTAGCTCTTC -3'
(R):5'- ACTCCTGAGCTTGGCAGTACAG -3'

Sequencing Primer
(F):5'- CAGTGTAGCTCTTCAAGATGATACC -3'
(R):5'- CCTGGCGAAGAATGAAGCCTTG -3'
Posted On 2015-02-05