Incidental Mutation 'R9202:Pramel19'
ID 698267
Institutional Source Beutler Lab
Gene Symbol Pramel19
Ensembl Gene ENSMUSG00000070890
Gene Name PRAME like 19
Synonyms Gm12794
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R9202 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 101797604-101800380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101797860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 86 (D86G)
Ref Sequence ENSEMBL: ENSMUSP00000051550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052027]
AlphaFold L7MTS5
Predicted Effect probably damaging
Transcript: ENSMUST00000052027
AA Change: D86G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000051550
Gene: ENSMUSG00000070890
AA Change: D86G

DomainStartEndE-ValueType
SCOP:d1a4ya_ 257 409 9e-11 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 95% (41/43)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 A T 3: 127,479,938 (GRCm39) I17K Het
Ampd3 T C 7: 110,402,346 (GRCm39) I441T probably damaging Het
Ankrd31 C T 13: 97,015,383 (GRCm39) Q1551* probably null Het
Asphd1 T A 7: 126,547,934 (GRCm39) Y123F probably damaging Het
Atf2 A G 2: 73,649,472 (GRCm39) S380P probably damaging Het
Bltp1 A G 3: 36,944,970 (GRCm39) S310G probably benign Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cep72 G T 13: 74,198,420 (GRCm39) T320K probably benign Het
Clip4 G A 17: 72,117,884 (GRCm39) G310R probably damaging Het
Ctnna3 T G 10: 64,708,947 (GRCm39) M662R probably damaging Het
Cyp2r1 T G 7: 114,152,047 (GRCm39) probably benign Het
Flvcr1 T A 1: 190,744,351 (GRCm39) Y399F probably benign Het
Gimap8 T A 6: 48,633,403 (GRCm39) F407L probably benign Het
Insrr C T 3: 87,720,427 (GRCm39) R1022W probably damaging Het
Ipo4 A T 14: 55,868,597 (GRCm39) probably null Het
Klhl35 A G 7: 99,120,212 (GRCm39) N363S probably benign Het
Loxl4 T C 19: 42,593,452 (GRCm39) T240A probably benign Het
Med23 T C 10: 24,780,202 (GRCm39) V950A probably benign Het
Nceh1 A G 3: 27,333,428 (GRCm39) I175V probably benign Het
Ndst4 C T 3: 125,518,385 (GRCm39) S354L probably benign Het
Or3a10 A G 11: 73,935,441 (GRCm39) S220P probably damaging Het
Or5ac24 T C 16: 59,165,618 (GRCm39) I149V probably benign Het
Or5m5 T A 2: 85,814,801 (GRCm39) F206I probably damaging Het
Osbpl5 T C 7: 143,254,498 (GRCm39) D515G probably benign Het
Pafah2 T C 4: 134,131,440 (GRCm39) S68P probably benign Het
Pcnx2 T A 8: 126,616,416 (GRCm39) probably null Het
Pde11a G T 2: 75,853,077 (GRCm39) S847* probably null Het
Pramel11 T A 4: 143,623,646 (GRCm39) N176I probably benign Het
Ptprq C T 10: 107,522,416 (GRCm39) V546I probably damaging Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Ripk2 C A 4: 16,124,502 (GRCm39) G402V probably benign Het
Speg T C 1: 75,367,637 (GRCm39) S715P probably damaging Het
Ttll12 A G 15: 83,466,264 (GRCm39) F399S probably damaging Het
Ugt1a2 G T 1: 88,128,375 (GRCm39) C6F probably benign Het
Vars2 T C 17: 35,977,551 (GRCm39) Y127C probably damaging Het
Vars2 T C 17: 35,974,444 (GRCm39) probably null Het
Vmn2r95 T C 17: 18,644,394 (GRCm39) F10S probably benign Het
Wdr12 T C 1: 60,121,205 (GRCm39) D371G possibly damaging Het
Wdr89 C T 12: 75,679,943 (GRCm39) E104K probably benign Het
Zbtb1 G T 12: 76,433,784 (GRCm39) R590L probably damaging Het
Zfhx3 A G 8: 109,677,920 (GRCm39) D2990G possibly damaging Het
Zfp710 G A 7: 79,731,609 (GRCm39) G262D probably damaging Het
Other mutations in Pramel19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Pramel19 APN 4 101,798,898 (GRCm39) missense probably benign 0.02
IGL01360:Pramel19 APN 4 101,797,665 (GRCm39) missense possibly damaging 0.94
IGL01837:Pramel19 APN 4 101,798,650 (GRCm39) missense probably damaging 1.00
IGL01870:Pramel19 APN 4 101,797,887 (GRCm39) missense probably benign 0.03
IGL02040:Pramel19 APN 4 101,798,331 (GRCm39) missense possibly damaging 0.94
IGL03264:Pramel19 APN 4 101,798,329 (GRCm39) missense probably damaging 0.99
R0033:Pramel19 UTSW 4 101,798,881 (GRCm39) missense probably benign
R0334:Pramel19 UTSW 4 101,798,781 (GRCm39) missense probably benign 0.01
R0846:Pramel19 UTSW 4 101,798,447 (GRCm39) missense probably benign 0.00
R1464:Pramel19 UTSW 4 101,798,503 (GRCm39) missense probably damaging 0.97
R1464:Pramel19 UTSW 4 101,798,503 (GRCm39) missense probably damaging 0.97
R1774:Pramel19 UTSW 4 101,797,655 (GRCm39) missense probably benign 0.27
R1888:Pramel19 UTSW 4 101,798,335 (GRCm39) missense probably damaging 0.99
R1888:Pramel19 UTSW 4 101,798,335 (GRCm39) missense probably damaging 0.99
R4510:Pramel19 UTSW 4 101,798,757 (GRCm39) missense probably benign 0.00
R4511:Pramel19 UTSW 4 101,798,757 (GRCm39) missense probably benign 0.00
R4890:Pramel19 UTSW 4 101,798,788 (GRCm39) missense probably damaging 0.99
R4960:Pramel19 UTSW 4 101,798,661 (GRCm39) missense probably benign
R5043:Pramel19 UTSW 4 101,797,721 (GRCm39) missense possibly damaging 0.89
R5297:Pramel19 UTSW 4 101,798,348 (GRCm39) missense possibly damaging 0.46
R5780:Pramel19 UTSW 4 101,798,724 (GRCm39) missense probably damaging 1.00
R5957:Pramel19 UTSW 4 101,798,898 (GRCm39) missense probably benign 0.02
R6409:Pramel19 UTSW 4 101,797,874 (GRCm39) nonsense probably null
R6452:Pramel19 UTSW 4 101,798,640 (GRCm39) missense probably benign 0.02
R7619:Pramel19 UTSW 4 101,798,497 (GRCm39) missense probably benign 0.01
R8460:Pramel19 UTSW 4 101,798,424 (GRCm39) missense probably benign 0.00
Z1177:Pramel19 UTSW 4 101,798,322 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCTCTGATCTGGAGGACCTG -3'
(R):5'- GCTACTTGTACTCTGAGCGATC -3'

Sequencing Primer
(F):5'- ATCTGGAGGACCTGCCCATC -3'
(R):5'- GAGCGATCCTGATCTATGACTGTC -3'
Posted On 2022-02-07