Incidental Mutation 'R4404:Pramel34'
ID 326756
Institutional Source Beutler Lab
Gene Symbol Pramel34
Ensembl Gene ENSMUSG00000070686
Gene Name PRAME like 34
Synonyms C87414
MMRRC Submission 041133-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R4404 (G1)
Quality Score 172
Status Not validated
Chromosome 5
Chromosomal Location 93783041-93819368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93785572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 236 (H236L)
Ref Sequence ENSEMBL: ENSMUSP00000124780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076321] [ENSMUST00000159578] [ENSMUST00000160382] [ENSMUST00000162964]
AlphaFold E9PWI7
Predicted Effect probably benign
Transcript: ENSMUST00000076321
SMART Domains Protein: ENSMUSP00000075662
Gene: ENSMUSG00000070686

DomainStartEndE-ValueType
SCOP:d1a4ya_ 67 191 1e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159691
Predicted Effect probably benign
Transcript: ENSMUST00000160382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161919
Predicted Effect possibly damaging
Transcript: ENSMUST00000162964
AA Change: H236L

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124780
Gene: ENSMUSG00000070686
AA Change: H236L

DomainStartEndE-ValueType
SCOP:d1a4ya_ 199 388 1e-9 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc188 A G 16: 18,036,284 (GRCm39) Q153R probably damaging Het
Cimap3 G A 3: 105,908,684 (GRCm39) P7L probably benign Het
Dop1a T A 9: 86,404,866 (GRCm39) L1721* probably null Het
Fcsk T A 8: 111,616,933 (GRCm39) T406S probably benign Het
Fer A T 17: 64,248,284 (GRCm39) probably null Het
Gprc6a T C 10: 51,504,639 (GRCm39) I68M probably benign Het
Gria4 A T 9: 4,464,489 (GRCm39) probably null Het
Gtf3c4 T C 2: 28,716,761 (GRCm39) D813G probably damaging Het
Hars2 G T 18: 36,918,989 (GRCm39) C83F probably damaging Het
Htr6 A G 4: 138,789,513 (GRCm39) S251P probably benign Het
Igsf10 T C 3: 59,236,972 (GRCm39) T1070A probably benign Het
Il22ra1 A T 4: 135,464,742 (GRCm39) E149D possibly damaging Het
Lama3 G A 18: 12,715,588 (GRCm39) M1681I probably benign Het
Loxhd1 G A 18: 77,518,828 (GRCm39) G1878D probably damaging Het
Mcc G A 18: 44,892,365 (GRCm39) T83M probably benign Het
Nol11 A T 11: 107,064,551 (GRCm39) C468S probably damaging Het
Nomo1 A G 7: 45,706,092 (GRCm39) N482S probably benign Het
Npy5r C T 8: 67,134,644 (GRCm39) V50I probably benign Het
Or8g21 T C 9: 38,905,865 (GRCm39) I289V possibly damaging Het
Pam T C 1: 97,782,446 (GRCm39) probably benign Het
Pank4 C T 4: 155,064,613 (GRCm39) T724I probably benign Het
Sertm1 C T 3: 54,806,746 (GRCm39) C93Y probably damaging Het
Slc22a2 A G 17: 12,833,651 (GRCm39) T444A probably damaging Het
Trpm7 C A 2: 126,675,635 (GRCm39) L489F probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Usp25 A C 16: 76,912,341 (GRCm39) K1020T probably damaging Het
Vmn2r76 T C 7: 85,877,511 (GRCm39) T511A probably benign Het
Zdhhc15 G A X: 103,604,294 (GRCm39) R322* probably null Het
Other mutations in Pramel34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Pramel34 APN 5 93,784,336 (GRCm39) missense probably damaging 1.00
IGL01642:Pramel34 APN 5 93,784,154 (GRCm39) missense possibly damaging 0.84
IGL02735:Pramel34 APN 5 93,786,503 (GRCm39) missense possibly damaging 0.94
PIT4466001:Pramel34 UTSW 5 93,784,147 (GRCm39) missense probably damaging 1.00
R1830:Pramel34 UTSW 5 93,785,545 (GRCm39) missense probably benign 0.03
R2071:Pramel34 UTSW 5 93,784,375 (GRCm39) missense probably damaging 1.00
R4606:Pramel34 UTSW 5 93,784,461 (GRCm39) missense probably damaging 0.96
R4672:Pramel34 UTSW 5 93,784,182 (GRCm39) missense probably damaging 0.99
R5056:Pramel34 UTSW 5 93,786,784 (GRCm39) start gained probably benign
R5118:Pramel34 UTSW 5 93,785,656 (GRCm39) missense probably benign 0.03
R5288:Pramel34 UTSW 5 93,785,607 (GRCm39) missense possibly damaging 0.86
R5441:Pramel34 UTSW 5 93,784,456 (GRCm39) missense possibly damaging 0.84
R6190:Pramel34 UTSW 5 93,785,937 (GRCm39) missense probably benign 0.14
R6513:Pramel34 UTSW 5 93,785,391 (GRCm39) splice site probably null
R7464:Pramel34 UTSW 5 93,784,099 (GRCm39) missense probably damaging 1.00
R7941:Pramel34 UTSW 5 93,785,887 (GRCm39) missense probably benign 0.04
R7961:Pramel34 UTSW 5 93,784,543 (GRCm39) missense probably damaging 1.00
R8130:Pramel34 UTSW 5 93,784,597 (GRCm39) missense probably damaging 1.00
R8389:Pramel34 UTSW 5 93,785,587 (GRCm39) missense probably benign 0.10
R8725:Pramel34 UTSW 5 93,784,316 (GRCm39) missense probably damaging 1.00
R8742:Pramel34 UTSW 5 93,785,935 (GRCm39) missense probably damaging 0.96
R8812:Pramel34 UTSW 5 93,785,660 (GRCm39) missense possibly damaging 0.84
R8849:Pramel34 UTSW 5 93,784,197 (GRCm39) missense probably benign 0.01
R8930:Pramel34 UTSW 5 93,785,944 (GRCm39) missense probably benign 0.39
R8932:Pramel34 UTSW 5 93,785,944 (GRCm39) missense probably benign 0.39
R8976:Pramel34 UTSW 5 93,785,977 (GRCm39) missense probably damaging 0.99
R9201:Pramel34 UTSW 5 93,785,937 (GRCm39) missense probably benign 0.14
R9229:Pramel34 UTSW 5 93,784,089 (GRCm39) nonsense probably null
R9287:Pramel34 UTSW 5 93,785,969 (GRCm39) missense possibly damaging 0.77
R9347:Pramel34 UTSW 5 93,786,697 (GRCm39) missense probably damaging 0.96
R9536:Pramel34 UTSW 5 93,784,289 (GRCm39) missense probably damaging 1.00
RF006:Pramel34 UTSW 5 93,784,562 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TGTACCTGACCCAGATCTCC -3'
(R):5'- GCCAAGCAGAGAATAGGATCCC -3'

Sequencing Primer
(F):5'- AGATCTCCATTCTTGCTTACCCTAGG -3'
(R):5'- CTGCTGTATAAAGATGAGGATCTGG -3'
Posted On 2015-07-07