Incidental Mutation 'R9050:Pramel24'
ID 688290
Institutional Source Beutler Lab
Gene Symbol Pramel24
Ensembl Gene ENSMUSG00000046435
Gene Name PRAME like 24
Synonyms Gm13078
MMRRC Submission 068876-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R9050 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 143446025-143455728 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 143453329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 146 (T146S)
Ref Sequence ENSEMBL: ENSMUSP00000077761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078695]
AlphaFold A2AGW8
Predicted Effect probably benign
Transcript: ENSMUST00000078695
AA Change: T146S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000077761
Gene: ENSMUSG00000046435
AA Change: T146S

DomainStartEndE-ValueType
SCOP:d1a4ya_ 204 412 4e-12 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 96% (53/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,208,605 (GRCm39) Y332H probably benign Het
Apoc3 A G 9: 46,144,592 (GRCm39) F77L probably benign Het
Atp5f1c A T 2: 10,069,049 (GRCm39) D99E probably damaging Het
Atxn3 A T 12: 101,924,387 (GRCm39) probably benign Het
Calcoco1 A G 15: 102,618,400 (GRCm39) V463A probably damaging Het
Cby3 A G 11: 50,248,617 (GRCm39) T20A possibly damaging Het
Cdhr2 A G 13: 54,883,133 (GRCm39) D1256G probably benign Het
Cep350 A T 1: 155,738,687 (GRCm39) D2385E possibly damaging Het
Clec9a G C 6: 129,396,561 (GRCm39) A170P possibly damaging Het
Col5a3 C T 9: 20,697,691 (GRCm39) G871S probably damaging Het
Fmo4 A G 1: 162,635,099 (GRCm39) S159P probably benign Het
Gabbr2 A G 4: 46,798,659 (GRCm39) F272L probably benign Het
Glp1r G A 17: 31,137,892 (GRCm39) G108S probably damaging Het
Herpud1 T C 8: 95,117,454 (GRCm39) S13P probably benign Het
Hps5 T C 7: 46,422,607 (GRCm39) D574G probably benign Het
Il7 A G 3: 7,669,170 (GRCm39) V22A possibly damaging Het
Kmt5c A G 7: 4,745,281 (GRCm39) T91A probably benign Het
Mrpl39 A C 16: 84,531,844 (GRCm39) probably benign Het
Mtr T C 13: 12,231,748 (GRCm39) D652G probably null Het
Neb C T 2: 52,079,901 (GRCm39) V5768M probably damaging Het
Ngef G A 1: 87,431,010 (GRCm39) P269L probably damaging Het
Nicol1 G C 5: 34,140,874 (GRCm39) A29P unknown Het
Nmrk1 T A 19: 18,618,539 (GRCm39) M74K probably benign Het
Obox8 A G 7: 14,066,870 (GRCm39) L58P unknown Het
Oga T C 19: 45,756,354 (GRCm39) T430A probably damaging Het
Or1o4 A G 17: 37,590,820 (GRCm39) Y164H probably damaging Het
Or2b2 A G 13: 21,887,150 (GRCm39) probably benign Het
Or2y1e T C 11: 49,218,930 (GRCm39) S231P possibly damaging Het
Or5p62 A C 7: 107,771,087 (GRCm39) L288W probably damaging Het
Pcdhb17 T G 18: 37,620,286 (GRCm39) V692G probably damaging Het
Pfas A G 11: 68,882,567 (GRCm39) V829A probably benign Het
Pth A G 7: 112,985,043 (GRCm39) V110A probably benign Het
Rabggta T A 14: 55,959,056 (GRCm39) Q37L probably benign Het
Rin3 A G 12: 102,335,738 (GRCm39) T550A probably damaging Het
Scn8a G A 15: 100,906,161 (GRCm39) V785I possibly damaging Het
Sec24d T C 3: 123,144,374 (GRCm39) V617A probably benign Het
Slc47a1 T C 11: 61,235,160 (GRCm39) I558V probably benign Het
Slc6a15 A T 10: 103,252,516 (GRCm39) M560L possibly damaging Het
Slfn9 G A 11: 82,879,120 (GRCm39) T3I probably benign Het
Spag9 A G 11: 93,935,294 (GRCm39) H35R probably damaging Het
Spats2 G T 15: 99,110,010 (GRCm39) R469L possibly damaging Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Ssx2ip C T 3: 146,144,512 (GRCm39) S592L possibly damaging Het
Ston1 A G 17: 88,944,228 (GRCm39) T545A probably benign Het
Suz12 C T 11: 79,913,023 (GRCm39) L379F probably damaging Het
Tbc1d24 C A 17: 24,404,899 (GRCm39) V82L probably benign Het
Tbc1d24 A T 17: 24,404,898 (GRCm39) V82E possibly damaging Het
Thada A G 17: 84,736,629 (GRCm39) I884T probably damaging Het
Tln1 C A 4: 43,549,786 (GRCm39) E542* probably null Het
Togaram2 T C 17: 72,007,878 (GRCm39) L401P probably damaging Het
Ttbk2 A T 2: 120,637,319 (GRCm39) N115K probably benign Het
Tubgcp4 G A 2: 121,004,079 (GRCm39) S40N probably benign Het
Wrn T C 8: 33,833,021 (GRCm39) D157G probably damaging Het
Zer1 A T 2: 30,001,294 (GRCm39) F70Y probably damaging Het
Zfp791 T C 8: 85,837,334 (GRCm39) I177V possibly damaging Het
Other mutations in Pramel24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00976:Pramel24 APN 4 143,453,585 (GRCm39) missense probably damaging 1.00
IGL01122:Pramel24 APN 4 143,454,971 (GRCm39) missense probably benign 0.13
IGL02314:Pramel24 APN 4 143,455,012 (GRCm39) missense probably benign 0.00
IGL03089:Pramel24 APN 4 143,452,703 (GRCm39) missense probably benign 0.43
IGL03338:Pramel24 APN 4 143,453,312 (GRCm39) missense probably benign 0.01
R0233:Pramel24 UTSW 4 143,452,633 (GRCm39) missense possibly damaging 0.71
R0233:Pramel24 UTSW 4 143,452,633 (GRCm39) missense possibly damaging 0.71
R0349:Pramel24 UTSW 4 143,453,629 (GRCm39) missense probably benign 0.00
R0681:Pramel24 UTSW 4 143,454,622 (GRCm39) missense probably benign
R0963:Pramel24 UTSW 4 143,453,678 (GRCm39) missense possibly damaging 0.50
R1114:Pramel24 UTSW 4 143,453,425 (GRCm39) missense probably benign 0.01
R2070:Pramel24 UTSW 4 143,453,472 (GRCm39) nonsense probably null
R2475:Pramel24 UTSW 4 143,453,395 (GRCm39) missense probably benign 0.14
R3824:Pramel24 UTSW 4 143,453,255 (GRCm39) missense probably benign 0.00
R4050:Pramel24 UTSW 4 143,453,692 (GRCm39) missense probably benign 0.01
R4125:Pramel24 UTSW 4 143,452,850 (GRCm39) nonsense probably null
R4273:Pramel24 UTSW 4 143,453,416 (GRCm39) nonsense probably null
R4280:Pramel24 UTSW 4 143,452,592 (GRCm39) missense possibly damaging 0.94
R4921:Pramel24 UTSW 4 143,454,896 (GRCm39) missense possibly damaging 0.95
R5223:Pramel24 UTSW 4 143,454,591 (GRCm39) missense probably benign 0.00
R7256:Pramel24 UTSW 4 143,452,849 (GRCm39) missense probably benign 0.23
R7640:Pramel24 UTSW 4 143,453,276 (GRCm39) missense probably benign 0.00
R7666:Pramel24 UTSW 4 143,455,085 (GRCm39) missense probably benign 0.00
R7683:Pramel24 UTSW 4 143,453,284 (GRCm39) nonsense probably null
R7981:Pramel24 UTSW 4 143,453,452 (GRCm39) missense probably benign 0.01
R8856:Pramel24 UTSW 4 143,453,303 (GRCm39) missense probably benign 0.33
R9739:Pramel24 UTSW 4 143,454,997 (GRCm39) missense possibly damaging 0.94
R9757:Pramel24 UTSW 4 143,454,992 (GRCm39) missense probably benign 0.00
Z1088:Pramel24 UTSW 4 143,453,603 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCAGATTACACATTGTGTCTCC -3'
(R):5'- CAATTCCTGGATTGAGGCTGC -3'

Sequencing Primer
(F):5'- ACATTGTGTCTCCTGTCCTATGAATG -3'
(R):5'- TTGAGGCTGCATCACAAAGCTTC -3'
Posted On 2021-11-19