Incidental Mutation 'R6528:Pramel29'
ID 522056
Institutional Source Beutler Lab
Gene Symbol Pramel29
Ensembl Gene ENSMUSG00000046262
Gene Name PRAME like 29
Synonyms C87977
MMRRC Submission 044654-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R6528 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 143933332-143939587 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143935381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 120 (V120A)
Ref Sequence ENSEMBL: ENSMUSP00000101379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105753] [ENSMUST00000105754] [ENSMUST00000105755] [ENSMUST00000105757] [ENSMUST00000146836] [ENSMUST00000147855]
AlphaFold A2A958
Predicted Effect probably damaging
Transcript: ENSMUST00000105753
AA Change: V120A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000105754
AA Change: V120A

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000105755
SMART Domains Protein: ENSMUSP00000101381
Gene: ENSMUSG00000046262

DomainStartEndE-ValueType
SCOP:d1a4ya_ 52 250 9e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000105757
AA Change: V120A

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: V120A

DomainStartEndE-ValueType
SCOP:d1a4ya_ 222 420 1e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132946
Predicted Effect possibly damaging
Transcript: ENSMUST00000146836
AA Change: V48A

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably damaging
Transcript: ENSMUST00000147855
AA Change: V122A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.6%
Validation Efficiency 98% (55/56)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 C T 8: 56,325,596 (GRCm39) R286H possibly damaging Het
Arhgap29 T A 3: 121,808,351 (GRCm39) N1176K probably benign Het
Cacfd1 T G 2: 26,908,951 (GRCm39) D97E probably benign Het
Ccnj C A 19: 40,820,529 (GRCm39) probably null Het
Chad A G 11: 94,456,450 (GRCm39) Y176C probably damaging Het
Chd5 T C 4: 152,441,133 (GRCm39) L191P probably damaging Het
Cmtm1 T C 8: 105,035,927 (GRCm39) D190G possibly damaging Het
Cyp3a16 C T 5: 145,377,241 (GRCm39) A449T probably damaging Het
Eml5 T C 12: 98,790,896 (GRCm39) E1334G probably benign Het
Endou C T 15: 97,617,510 (GRCm39) E147K probably damaging Het
Fbxo21 C A 5: 118,138,421 (GRCm39) H449N probably benign Het
Fkbp15 A G 4: 62,250,507 (GRCm39) I363T probably damaging Het
Gm12887 C A 4: 121,472,834 (GRCm39) G103C probably damaging Het
Gm14410 T A 2: 176,885,301 (GRCm39) H321L probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Irgm2 C T 11: 58,110,878 (GRCm39) P202S probably benign Het
Khsrp G A 17: 57,330,543 (GRCm39) T551I probably damaging Het
Lpin2 T A 17: 71,551,000 (GRCm39) I720N probably damaging Het
Lypd8 G A 11: 58,275,439 (GRCm39) G58E probably damaging Het
Mdn1 G T 4: 32,713,780 (GRCm39) L1952F probably damaging Het
Med13 G A 11: 86,189,780 (GRCm39) P1043L probably damaging Het
Mycbp2 T C 14: 103,380,317 (GRCm39) T3832A probably damaging Het
Nrxn3 C T 12: 89,479,819 (GRCm39) R654C probably damaging Het
Or10a3m T C 7: 108,312,638 (GRCm39) L14P probably damaging Het
Or12j3 G T 7: 139,953,354 (GRCm39) H56Q possibly damaging Het
Or13a22 A G 7: 140,072,964 (GRCm39) M138V probably damaging Het
Or8k35 T C 2: 86,424,809 (GRCm39) D121G probably damaging Het
Pcdhb6 A G 18: 37,467,556 (GRCm39) D159G probably damaging Het
Plec T C 15: 76,058,630 (GRCm39) E3759G probably damaging Het
Plekho1 C T 3: 95,896,633 (GRCm39) D236N probably damaging Het
Pnma1 T A 12: 84,194,197 (GRCm39) I169F probably benign Het
Ppl T A 16: 4,905,480 (GRCm39) H1605L probably benign Het
Ppp2r2b T A 18: 42,821,403 (GRCm39) M252L probably benign Het
Prickle4 T A 17: 48,000,258 (GRCm39) R246* probably null Het
Rad50 G A 11: 53,543,109 (GRCm39) T1235I probably damaging Het
Ranbp10 T C 8: 106,506,588 (GRCm39) N244S probably damaging Het
Robo4 T C 9: 37,315,664 (GRCm39) S306P possibly damaging Het
Shox2 C A 3: 66,888,618 (GRCm39) R91L probably benign Het
Tbx5 A G 5: 120,021,176 (GRCm39) E394G probably damaging Het
Tcl1b5 A G 12: 105,145,258 (GRCm39) N74S probably benign Het
Tgif1 G A 17: 71,153,555 (GRCm39) probably benign Het
Tmem128 T A 5: 38,423,843 (GRCm39) probably null Het
Trio A G 15: 27,805,956 (GRCm39) S511P probably damaging Het
Trps1 A G 15: 50,685,823 (GRCm39) I114T probably benign Het
Ttll8 G T 15: 88,798,441 (GRCm39) Q765K probably benign Het
Usp17ld A T 7: 102,899,962 (GRCm39) D323E probably damaging Het
Vmn1r232 G A 17: 21,134,309 (GRCm39) T97I probably benign Het
Vmn2r28 T A 7: 5,493,684 (GRCm39) R87S probably benign Het
Vps26b C G 9: 26,921,762 (GRCm39) E254D probably benign Het
Vps8 C A 16: 21,372,875 (GRCm39) Y113* probably null Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xcr1 A T 9: 123,685,048 (GRCm39) I238N probably damaging Het
Zar1l T A 5: 150,430,595 (GRCm39) E272V probably damaging Het
Zfp451 A G 1: 33,816,862 (GRCm39) Y146H probably damaging Het
Zfp54 G T 17: 21,653,736 (GRCm39) E77* probably null Het
Other mutations in Pramel29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Pramel29 APN 4 143,935,045 (GRCm39) missense possibly damaging 0.58
IGL02950:Pramel29 APN 4 143,939,531 (GRCm39) missense probably benign 0.06
IGL03174:Pramel29 APN 4 143,935,000 (GRCm39) missense probably benign
IGL03178:Pramel29 APN 4 143,934,821 (GRCm39) critical splice donor site probably null
PIT4812001:Pramel29 UTSW 4 143,936,086 (GRCm39) missense probably benign
R0622:Pramel29 UTSW 4 143,939,583 (GRCm39) unclassified probably benign
R0634:Pramel29 UTSW 4 143,935,910 (GRCm39) critical splice donor site probably null
R1127:Pramel29 UTSW 4 143,933,694 (GRCm39) missense probably damaging 1.00
R1341:Pramel29 UTSW 4 143,934,129 (GRCm39) missense probably damaging 1.00
R1697:Pramel29 UTSW 4 143,935,162 (GRCm39) missense probably damaging 1.00
R1827:Pramel29 UTSW 4 143,936,180 (GRCm39) missense probably damaging 0.99
R1857:Pramel29 UTSW 4 143,935,091 (GRCm39) missense possibly damaging 0.74
R2859:Pramel29 UTSW 4 143,936,192 (GRCm39) missense probably benign 0.11
R4063:Pramel29 UTSW 4 143,935,265 (GRCm39) missense possibly damaging 0.87
R4114:Pramel29 UTSW 4 143,936,173 (GRCm39) missense probably damaging 1.00
R4130:Pramel29 UTSW 4 143,935,379 (GRCm39) missense probably damaging 0.99
R4255:Pramel29 UTSW 4 143,934,054 (GRCm39) missense possibly damaging 0.68
R4704:Pramel29 UTSW 4 143,935,162 (GRCm39) missense probably damaging 1.00
R4840:Pramel29 UTSW 4 143,935,144 (GRCm39) missense probably damaging 0.98
R5267:Pramel29 UTSW 4 143,939,575 (GRCm39) unclassified probably benign
R5670:Pramel29 UTSW 4 143,936,192 (GRCm39) missense probably benign 0.11
R6149:Pramel29 UTSW 4 143,933,983 (GRCm39) missense probably damaging 0.98
R6508:Pramel29 UTSW 4 143,934,171 (GRCm39) nonsense probably null
R7252:Pramel29 UTSW 4 143,939,510 (GRCm39) missense possibly damaging 0.95
R7564:Pramel29 UTSW 4 143,939,525 (GRCm39) missense probably damaging 1.00
R7704:Pramel29 UTSW 4 143,935,091 (GRCm39) missense possibly damaging 0.74
R8737:Pramel29 UTSW 4 143,935,192 (GRCm39) missense probably damaging 1.00
R9703:Pramel29 UTSW 4 143,939,510 (GRCm39) missense probably damaging 0.97
Z1176:Pramel29 UTSW 4 143,934,031 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CCACTGCAGCAAGTATGTGG -3'
(R):5'- GGCTAAAGATGCCCTCTTGC -3'

Sequencing Primer
(F):5'- CACTGCAGCAAGTATGTGGTAGATTC -3'
(R):5'- GATGCCCTCTTGCAAAGAATG -3'
Posted On 2018-06-06