Incidental Mutation 'R7704:Pramel29'
ID 594174
Institutional Source Beutler Lab
Gene Symbol Pramel29
Ensembl Gene ENSMUSG00000046262
Gene Name PRAME like 29
Synonyms C87977
MMRRC Submission 045765-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R7704 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 143933332-143939587 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 143935091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 217 (V217I)
Ref Sequence ENSEMBL: ENSMUSP00000101379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105753] [ENSMUST00000105754] [ENSMUST00000105755] [ENSMUST00000105757] [ENSMUST00000146836] [ENSMUST00000147855]
AlphaFold A2A958
Predicted Effect possibly damaging
Transcript: ENSMUST00000105753
AA Change: V217I

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000105754
Predicted Effect possibly damaging
Transcript: ENSMUST00000105755
AA Change: V47I

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101381
Gene: ENSMUSG00000046262
AA Change: V47I

DomainStartEndE-ValueType
SCOP:d1a4ya_ 52 250 9e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000105757
AA Change: V217I

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: V217I

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 C A 7: 45,756,068 (GRCm39) W1458L probably damaging Het
Actn4 A T 7: 28,596,467 (GRCm39) I676N possibly damaging Het
Adamts10 T C 17: 33,770,126 (GRCm39) C1002R probably damaging Het
Agbl2 A C 2: 90,619,349 (GRCm39) N58T probably benign Het
Akap12 A T 10: 4,306,082 (GRCm39) D1069V probably damaging Het
Bltp2 C A 11: 78,159,570 (GRCm39) Q540K probably benign Het
Cfap65 T A 1: 74,967,527 (GRCm39) T184S probably benign Het
Chd1 T C 17: 15,987,737 (GRCm39) V1517A probably benign Het
CN725425 T A 15: 91,119,993 (GRCm39) V38D possibly damaging Het
Copg1 T A 6: 87,884,940 (GRCm39) L712Q probably benign Het
Ctsf T G 19: 4,906,567 (GRCm39) F165V probably damaging Het
Ddx21 T C 10: 62,429,865 (GRCm39) Y293C probably damaging Het
Ddx46 C T 13: 55,821,832 (GRCm39) P839S probably benign Het
Dennd5a A G 7: 109,496,174 (GRCm39) V1164A possibly damaging Het
Dync1h1 T A 12: 110,632,200 (GRCm39) I4490N probably damaging Het
Ecm1 A C 3: 95,643,843 (GRCm39) Y236D probably damaging Het
Fat2 T C 11: 55,175,173 (GRCm39) T1847A probably benign Het
Galc T A 12: 98,175,102 (GRCm39) I567L probably benign Het
Gask1a C T 9: 121,780,151 (GRCm39) probably benign Het
H6pd T C 4: 150,067,360 (GRCm39) D350G probably benign Het
Ifi44 A G 3: 151,438,061 (GRCm39) Y409H probably benign Het
Kdm5a T G 6: 120,404,025 (GRCm39) F1210C probably damaging Het
Kdm5b C T 1: 134,515,669 (GRCm39) R98C probably damaging Het
Lipt1 T A 1: 37,915,043 (GRCm39) C366* probably null Het
Med13 G A 11: 86,236,744 (GRCm39) R138* probably null Het
Mterf1a A G 5: 3,941,845 (GRCm39) C8R probably benign Het
Ncapg2 A T 12: 116,382,897 (GRCm39) I243F probably damaging Het
Nop58 T C 1: 59,744,754 (GRCm39) S304P probably damaging Het
Nsd2 T C 5: 34,028,811 (GRCm39) *167Q probably null Het
Or1e30 T G 11: 73,678,616 (GRCm39) M284R probably damaging Het
Or2t35 T A 14: 14,407,867 (GRCm38) I213N probably damaging Het
Or52ab2 T A 7: 102,969,978 (GRCm39) M120K Het
Prdm16 C T 4: 154,425,947 (GRCm39) G613R probably damaging Het
Prss46 T C 9: 110,679,065 (GRCm39) S89P probably damaging Het
Scin T C 12: 40,174,687 (GRCm39) N132S possibly damaging Het
Sec14l2 T C 11: 4,058,574 (GRCm39) K196R probably benign Het
Sox17 C A 1: 4,563,895 (GRCm39) probably benign Het
Tango6 A G 8: 107,425,621 (GRCm39) T394A probably benign Het
Tbc1d22a T A 15: 86,250,876 (GRCm39) I398N probably damaging Het
Tdpoz8 A G 3: 92,981,752 (GRCm39) I183V probably benign Het
Tmem8b T C 4: 43,689,461 (GRCm39) V285A probably damaging Het
Tnfrsf11b T A 15: 54,123,497 (GRCm39) T35S probably benign Het
Unc13c T A 9: 73,606,494 (GRCm39) I1289F probably benign Het
Ust C T 10: 8,205,987 (GRCm39) V99I probably benign Het
Vmn1r76 A G 7: 11,664,344 (GRCm39) V290A probably benign Het
Vmn2r50 T C 7: 9,781,665 (GRCm39) N360S probably benign Het
Vmn2r93 T C 17: 18,536,910 (GRCm39) I531T probably benign Het
Zap70 T C 1: 36,818,395 (GRCm39) probably null Het
Zfp932 A G 5: 110,157,630 (GRCm39) N443D 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
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
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'- GCTGAATATTATCTCCTCATCAAGC -3'
(R):5'- GTTCACGACAGAGAAGCAGC -3'

Sequencing Primer
(F):5'- CTTTTCAGAATCACCAAAACTGGAGG -3'
(R):5'- CCAATTGAGAACAGTCCTGGGTG -3'
Posted On 2019-11-12