Incidental Mutation 'R4114:Pramel29'
ID 314542
Institutional Source Beutler Lab
Gene Symbol Pramel29
Ensembl Gene ENSMUSG00000046262
Gene Name PRAME like 29
Synonyms C87977
MMRRC Submission 040990-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R4114 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 143933332-143939587 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 143936173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 29 (L29H)
Ref Sequence ENSEMBL: ENSMUSP00000119895 (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: L27H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000105754
AA Change: L27H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000105755
SMART Domains Protein: ENSMUSP00000101381
Gene: ENSMUSG00000046262

DomainStartEndE-ValueType
SCOP:d1a4ya_ 52 250 9e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105757
AA Change: L27H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: L27H

DomainStartEndE-ValueType
SCOP:d1a4ya_ 222 420 1e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132946
Predicted Effect probably benign
Transcript: ENSMUST00000146836
Predicted Effect probably damaging
Transcript: ENSMUST00000147855
AA Change: L29H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4999 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik T G 11: 117,693,793 (GRCm39) S87A probably damaging Het
Abca16 T C 7: 120,126,290 (GRCm39) F1149L probably benign Het
Abcf1 A T 17: 36,270,146 (GRCm39) D637E probably benign Het
Ankrd34c A G 9: 89,611,927 (GRCm39) L138P probably damaging Het
Cdh23 A G 10: 60,256,819 (GRCm39) probably null Het
Cep44 T C 8: 56,998,457 (GRCm39) T74A probably benign Het
Colq T A 14: 31,279,824 (GRCm39) M1L probably benign Het
Cym A T 3: 107,127,065 (GRCm39) L30Q probably damaging Het
Dpp6 T A 5: 27,674,485 (GRCm39) probably null Het
Gbe1 G T 16: 70,280,715 (GRCm39) G372V possibly damaging Het
Hdc T A 2: 126,443,738 (GRCm39) M314L probably benign Het
Ino80b A G 6: 83,101,121 (GRCm39) S149P probably benign Het
Itpr2 C T 6: 146,327,008 (GRCm39) V120I probably damaging Het
Morc3 G A 16: 93,670,227 (GRCm39) D801N probably benign Het
Mpped1 A G 15: 83,680,910 (GRCm39) probably benign Het
Nek5 G A 8: 22,601,178 (GRCm39) T181M probably damaging Het
Nlrp4a T G 7: 26,149,365 (GRCm39) F324C probably damaging Het
Nop56 T C 2: 130,118,593 (GRCm39) probably null Het
Or6c6c T C 10: 129,541,668 (GRCm39) L307S probably benign Het
Or8u9 A T 2: 86,001,759 (GRCm39) V134D possibly damaging Het
Pcdhb3 A G 18: 37,435,093 (GRCm39) N353S probably benign Het
Pde8a T A 7: 80,932,555 (GRCm39) probably null Het
Ryr2 C T 13: 11,707,568 (GRCm39) R2823H probably damaging Het
Scart2 T C 7: 139,877,823 (GRCm39) V935A probably damaging Het
Sec22a A G 16: 35,139,202 (GRCm39) F232S probably damaging Het
Slc7a1 T C 5: 148,278,867 (GRCm39) T302A probably damaging Het
Sult2a2 A T 7: 13,468,708 (GRCm39) Q58L probably benign Het
Tek T C 4: 94,737,920 (GRCm39) S657P probably damaging Het
Trim5 A G 7: 103,914,947 (GRCm39) L374P probably damaging Het
Tspan18 C A 2: 93,142,291 (GRCm39) probably null Het
Vmn2r37 T A 7: 9,213,092 (GRCm39) probably null Het
Zbbx T C 3: 75,046,905 (GRCm39) T121A probably benign Het
Zfp35 A C 18: 24,135,766 (GRCm39) I37L 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
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
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'- ATAGCCTTCAAAGTCTCCAGGTTG -3'
(R):5'- ATCGAGGGTGATCAAATTGGTAAAC -3'

Sequencing Primer
(F):5'- TCTGCTTCCCTAAAGAAAGGTATGGG -3'
(R):5'- ACTGAGTTCTCTATCCTAATCGGTAG -3'
Posted On 2015-05-14