Incidental Mutation 'R1127:Pramel29'
ID 96280
Institutional Source Beutler Lab
Gene Symbol Pramel29
Ensembl Gene ENSMUSG00000046262
Gene Name PRAME like 29
Synonyms C87977
MMRRC Submission 039200-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R1127 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 143933332-143939587 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 143933694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 471 (T471I)
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 probably benign
Transcript: ENSMUST00000105754
Predicted Effect probably damaging
Transcript: ENSMUST00000105755
AA Change: T301I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101381
Gene: ENSMUSG00000046262
AA Change: T301I

DomainStartEndE-ValueType
SCOP:d1a4ya_ 52 250 9e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105757
AA Change: T471I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: T471I

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: 98.7%
  • 3x: 97.5%
  • 10x: 93.1%
  • 20x: 80.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,019,403 (GRCm39) D179G probably benign Het
Aadacl2fm2 G A 3: 59,659,314 (GRCm39) E256K probably benign Het
Adh7 C T 3: 137,927,490 (GRCm39) A12V probably benign Het
Ankhd1 T A 18: 36,767,399 (GRCm39) N1179K probably damaging Het
Ankrd50 T C 3: 38,511,336 (GRCm39) T344A probably benign Het
Aplf T C 6: 87,623,273 (GRCm39) T269A probably benign Het
Cavin4 T C 4: 48,663,637 (GRCm39) S6P probably damaging Het
Ces2g T C 8: 105,694,094 (GRCm39) probably null Het
Cyp2c66 A T 19: 39,151,812 (GRCm39) N176Y probably damaging Het
Dnah3 T A 7: 119,522,253 (GRCm39) D3980V probably damaging Het
Drc7 G T 8: 95,799,416 (GRCm39) E530D probably damaging Het
Dst A G 1: 34,314,358 (GRCm39) T6434A probably damaging Het
Dtx3l A G 16: 35,759,127 (GRCm39) S41P possibly damaging Het
Eef1b2 G A 1: 63,218,616 (GRCm39) probably null Het
Eml3 C T 19: 8,913,672 (GRCm39) T43I probably damaging Het
Fam110b T A 4: 5,799,434 (GRCm39) L284Q probably damaging Het
Gpr33 A C 12: 52,070,252 (GRCm39) H262Q probably damaging Het
Igfals T G 17: 25,099,455 (GRCm39) L182R probably damaging Het
Lamc1 A G 1: 153,126,205 (GRCm39) F496L possibly damaging Het
Muc4 T A 16: 32,569,343 (GRCm39) H134Q possibly damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nxn A T 11: 76,164,895 (GRCm39) C205* probably null Het
Oga G A 19: 45,740,594 (GRCm39) R914* probably null Het
Or11l3 T C 11: 58,516,284 (GRCm39) E196G probably damaging Het
Or52h9 C A 7: 104,202,293 (GRCm39) H56N possibly damaging Het
Pamr1 A T 2: 102,469,698 (GRCm39) I415F possibly damaging Het
Ppp4r4 G A 12: 103,545,327 (GRCm39) G200E probably damaging Het
Prdm16 C A 4: 154,613,256 (GRCm39) S57I probably damaging Het
Psmd11 A G 11: 80,362,410 (GRCm39) K157R possibly damaging Het
Ptprn2 G A 12: 117,175,628 (GRCm39) probably null Het
Pus7 G A 5: 23,973,793 (GRCm39) H234Y probably benign Het
Rd3l A G 12: 111,946,717 (GRCm39) Y20H probably benign Het
Stk31 A G 6: 49,386,141 (GRCm39) D160G probably damaging Het
Sycp2 C T 2: 178,016,159 (GRCm39) E768K possibly damaging Het
Tango6 T C 8: 107,415,527 (GRCm39) V116A probably benign Het
Ttn C T 2: 76,697,574 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Xylb T C 9: 119,212,443 (GRCm39) I427T probably damaging Het
Zc3h7a T G 16: 10,956,939 (GRCm39) D890A probably damaging 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
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
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'- CATCCATTCACCAGCTCAGAGGAAG -3'
(R):5'- GCCTGCCCTAAGCCAATTATCTCAC -3'

Sequencing Primer
(F):5'- TAGGTGATTGACATTTTCATGCTCC -3'
(R):5'- CACCTCAGAGAGGTCAGTTTCTATG -3'
Posted On 2014-01-05