Incidental Mutation 'R6508:Pramel29'
ID 523977
Institutional Source Beutler Lab
Gene Symbol Pramel29
Ensembl Gene ENSMUSG00000046262
Gene Name PRAME like 29
Synonyms C87977
MMRRC Submission 044638-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R6508 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 143933332-143939587 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 143934171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 312 (L312*)
Ref Sequence ENSEMBL: ENSMUSP00000101383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105753] [ENSMUST00000105754] [ENSMUST00000105755] [ENSMUST00000105757] [ENSMUST00000146836] [ENSMUST00000147855]
AlphaFold A2A958
Predicted Effect probably benign
Transcript: ENSMUST00000105753
Predicted Effect silent
Transcript: ENSMUST00000105754
Predicted Effect probably null
Transcript: ENSMUST00000105755
AA Change: L142*
SMART Domains Protein: ENSMUSP00000101381
Gene: ENSMUSG00000046262
AA Change: L142*

DomainStartEndE-ValueType
SCOP:d1a4ya_ 52 250 9e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000105757
AA Change: L312*
SMART Domains Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: L312*

DomainStartEndE-ValueType
SCOP:d1a4ya_ 222 420 1e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132946
Predicted Effect probably benign
Transcript: ENSMUST00000146836
Predicted Effect probably benign
Transcript: ENSMUST00000147855
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 G A 4: 144,291,590 (GRCm39) R39* probably null Het
Brca2 A T 5: 150,460,058 (GRCm39) E444D possibly damaging Het
Camkk2 G T 5: 122,884,382 (GRCm39) N346K probably damaging Het
Car4 C A 11: 84,856,469 (GRCm39) D252E possibly damaging Het
Chd1 A G 17: 15,958,895 (GRCm39) K649R probably benign Het
Col12a1 A G 9: 79,557,231 (GRCm39) Y1966H probably damaging Het
Crppa C T 12: 36,476,298 (GRCm39) A180V possibly damaging Het
Cts6 T A 13: 61,344,221 (GRCm39) H277L probably damaging Het
Dcc G T 18: 71,439,144 (GRCm39) P1246Q probably damaging Het
Dlg5 G A 14: 24,188,774 (GRCm39) T1739I probably benign Het
Eci1 T A 17: 24,656,283 (GRCm39) N164K probably damaging Het
Entpd7 G A 19: 43,679,525 (GRCm39) R26H probably damaging Het
Fanci A G 7: 79,093,516 (GRCm39) K1008E probably damaging Het
Htr2b T C 1: 86,030,186 (GRCm39) T170A possibly damaging Het
Irgm2 A G 11: 58,110,327 (GRCm39) E18G probably benign Het
Kdm1a A T 4: 136,281,621 (GRCm39) V630E probably damaging Het
Keap1 G A 9: 21,143,010 (GRCm39) T501I possibly damaging Het
L3mbtl3 T A 10: 26,194,325 (GRCm39) H424L unknown Het
Lrrc14b C T 13: 74,511,337 (GRCm39) D248N possibly damaging Het
Macf1 T A 4: 123,363,535 (GRCm39) D3364V probably damaging Het
Map3k20 G A 2: 72,272,253 (GRCm39) G794S probably benign Het
Mcat T C 15: 83,433,452 (GRCm39) Q34R probably benign Het
Mettl4 T C 17: 95,051,373 (GRCm39) E148G probably damaging Het
Mgat3 T C 15: 80,096,225 (GRCm39) S351P possibly damaging Het
Mllt1 A T 17: 57,234,054 (GRCm39) I44N probably damaging Het
Mlxipl G T 5: 135,157,474 (GRCm39) A337S probably benign Het
Naip1 A G 13: 100,572,973 (GRCm39) F254L probably damaging Het
Obscn A T 11: 58,944,973 (GRCm39) probably null Het
Or10q1 C T 19: 13,726,718 (GRCm39) P83S probably damaging Het
Pcdh12 G A 18: 38,414,390 (GRCm39) R912* probably null Het
Pcdh17 A G 14: 84,685,419 (GRCm39) N629D probably damaging Het
Pcnx1 T C 12: 81,959,479 (GRCm39) I170T probably damaging Het
Pgr A G 9: 8,956,290 (GRCm39) Y746C probably damaging Het
Pum2 T C 12: 8,798,861 (GRCm39) Y991H probably benign Het
Rcc1l A T 5: 134,198,077 (GRCm39) V185D probably damaging Het
Scarb1 A T 5: 125,381,389 (GRCm39) S52T possibly damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Spata4 T C 8: 55,053,887 (GRCm39) S18P probably benign Het
Stard13 G A 5: 150,986,754 (GRCm39) T134I probably benign Het
Tbc1d32 C T 10: 56,100,786 (GRCm39) C64Y probably damaging Het
Tll1 T G 8: 64,551,494 (GRCm39) I296L probably damaging Het
Tmem229b T G 12: 79,011,680 (GRCm39) T84P probably damaging Het
Ttn T C 2: 76,544,757 (GRCm39) T32782A possibly damaging Het
Vmn1r73 G A 7: 11,490,631 (GRCm39) V150I possibly damaging Het
Vmn2r80 T A 10: 79,030,290 (GRCm39) F705L probably benign 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
R6528:Pramel29 UTSW 4 143,935,381 (GRCm39) missense probably damaging 0.99
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'- AGGCACTGAACTGAAAGTCC -3'
(R):5'- ATACTGTGAGTTGTGAGAGCAG -3'

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