Incidental Mutation 'R3720:Pramel12'
ID 258851
Institutional Source Beutler Lab
Gene Symbol Pramel12
Ensembl Gene ENSMUSG00000046862
Gene Name PRAME like 12
Synonyms Pramef8, 4732496O08Rik
MMRRC Submission 040711-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R3720 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 143138996-143147661 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143145949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 473 (T473A)
Ref Sequence ENSEMBL: ENSMUSP00000058676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037356] [ENSMUST00000059790] [ENSMUST00000132915] [ENSMUST00000155157]
AlphaFold Q8CE24
Predicted Effect probably benign
Transcript: ENSMUST00000037356
AA Change: T473A

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000041323
Gene: ENSMUSG00000046862
AA Change: T473A

DomainStartEndE-ValueType
SCOP:d1a4ya_ 205 410 3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000059790
AA Change: T473A

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000058676
Gene: ENSMUSG00000046862
AA Change: T473A

DomainStartEndE-ValueType
SCOP:d1a4ya_ 205 410 3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132915
Predicted Effect probably benign
Transcript: ENSMUST00000155157
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 93% (40/43)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Appl1 G A 14: 26,649,801 (GRCm39) T575M probably damaging Het
Atp2c1 A T 9: 105,300,175 (GRCm39) M708K probably damaging Het
C9 A G 15: 6,512,600 (GRCm39) T241A possibly damaging Het
Ccrl2 T C 9: 110,885,432 (GRCm39) D22G probably benign Het
Cd47 A G 16: 49,688,205 (GRCm39) I42V probably benign Het
Cntnap5c T C 17: 58,637,197 (GRCm39) S1025P probably benign Het
Col8a1 T C 16: 57,447,279 (GRCm39) M744V unknown Het
Cstf3 A G 2: 104,483,431 (GRCm39) probably benign Het
Dnah8 G A 17: 31,073,872 (GRCm39) R4514H probably damaging Het
Dnai1 G A 4: 41,602,615 (GRCm39) R113H probably damaging Het
Fry T C 5: 150,378,037 (GRCm39) S410P probably damaging Het
Glt6d1 ACCC ACCCC 2: 25,685,179 (GRCm39) probably null Het
Gm10717 A G 9: 3,025,532 (GRCm39) Y39C probably benign Het
Hivep1 C T 13: 42,312,077 (GRCm39) T1439I probably benign Het
Iqgap2 T C 13: 95,805,036 (GRCm39) probably null Het
Kbtbd11 T A 8: 15,079,118 (GRCm39) C572* probably null Het
Kif1c T C 11: 70,594,597 (GRCm39) F86L possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Ldb1 C T 19: 46,033,331 (GRCm39) probably benign Het
Lrmda T A 14: 22,077,399 (GRCm39) probably benign Het
Med23 T C 10: 24,767,018 (GRCm39) L369S probably damaging Het
Mei1 A G 15: 81,987,405 (GRCm39) H399R possibly damaging Het
Myo1b G T 1: 51,815,505 (GRCm39) H614N possibly damaging Het
Neurl1b C T 17: 26,633,949 (GRCm39) T4M probably damaging Het
Or10al7 T C 17: 38,366,259 (GRCm39) Y66C probably damaging Het
Or5t15 T C 2: 86,681,935 (GRCm39) T36A probably benign Het
Polg G A 7: 79,106,539 (GRCm39) Q163* probably null Het
Sdk2 G A 11: 113,691,070 (GRCm39) P1835L probably damaging Het
Slc35a5 A T 16: 44,967,685 (GRCm39) I138N probably damaging Het
Snx31 T C 15: 36,523,704 (GRCm39) probably null Het
Speg A T 1: 75,403,426 (GRCm39) H2590L probably damaging Het
Spink4 T A 4: 40,929,136 (GRCm39) C54S probably damaging Het
Swap70 A G 7: 109,869,254 (GRCm39) E349G probably damaging Het
Sybu A G 15: 44,536,028 (GRCm39) V766A possibly damaging Het
Tns3 G A 11: 8,442,999 (GRCm39) R455W probably damaging Het
Tnxb T A 17: 34,931,938 (GRCm39) V2157E possibly damaging Het
Trak2 A T 1: 58,985,404 (GRCm39) probably null Het
Trav18 C T 14: 54,069,074 (GRCm39) R39C possibly damaging Het
Uroc1 G A 6: 90,323,337 (GRCm39) V352M probably damaging Het
Zfp106 A C 2: 120,365,080 (GRCm39) I442M probably benign Het
Zfp935 G A 13: 62,602,846 (GRCm39) Q98* probably null Het
Other mutations in Pramel12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Pramel12 APN 4 143,143,237 (GRCm39) start codon destroyed probably null 1.00
IGL01483:Pramel12 APN 4 143,144,047 (GRCm39) missense probably damaging 0.99
IGL01800:Pramel12 APN 4 143,145,650 (GRCm39) missense probably damaging 1.00
IGL02063:Pramel12 APN 4 143,144,421 (GRCm39) missense probably benign 0.00
IGL02216:Pramel12 APN 4 143,144,298 (GRCm39) splice site probably null
IGL02236:Pramel12 APN 4 143,143,512 (GRCm39) missense probably benign 0.07
IGL03013:Pramel12 APN 4 143,144,037 (GRCm39) missense possibly damaging 0.64
R0658:Pramel12 UTSW 4 143,144,170 (GRCm39) missense probably damaging 1.00
R1485:Pramel12 UTSW 4 143,144,188 (GRCm39) missense probably benign 0.01
R2049:Pramel12 UTSW 4 143,143,441 (GRCm39) missense probably damaging 1.00
R2518:Pramel12 UTSW 4 143,144,473 (GRCm39) missense possibly damaging 0.89
R3738:Pramel12 UTSW 4 143,143,212 (GRCm39) utr 5 prime probably benign
R3961:Pramel12 UTSW 4 143,145,888 (GRCm39) missense probably benign 0.00
R4583:Pramel12 UTSW 4 143,143,324 (GRCm39) missense probably damaging 1.00
R5135:Pramel12 UTSW 4 143,145,579 (GRCm39) missense probably benign 0.01
R5348:Pramel12 UTSW 4 143,143,351 (GRCm39) missense probably damaging 1.00
R5473:Pramel12 UTSW 4 143,145,874 (GRCm39) missense probably damaging 1.00
R5977:Pramel12 UTSW 4 143,144,229 (GRCm39) missense probably benign 0.02
R6909:Pramel12 UTSW 4 143,144,479 (GRCm39) missense probably damaging 1.00
R7441:Pramel12 UTSW 4 143,145,410 (GRCm39) missense probably benign 0.00
R7777:Pramel12 UTSW 4 143,144,331 (GRCm39) missense possibly damaging 0.88
R8053:Pramel12 UTSW 4 143,144,208 (GRCm39) missense probably benign 0.01
R8218:Pramel12 UTSW 4 143,145,706 (GRCm39) missense probably benign 0.01
R8345:Pramel12 UTSW 4 143,143,438 (GRCm39) missense probably benign 0.18
R8963:Pramel12 UTSW 4 143,144,229 (GRCm39) missense probably benign 0.02
R9047:Pramel12 UTSW 4 143,145,673 (GRCm39) missense possibly damaging 0.93
R9395:Pramel12 UTSW 4 143,145,605 (GRCm39) missense probably benign 0.23
R9570:Pramel12 UTSW 4 143,144,514 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ATCACACAGCCAGTCTGAGC -3'
(R):5'- CCCATTGTTCTCTAGAAGCTCAGTC -3'

Sequencing Primer
(F):5'- AGCTGACCCAGGAGCTGTATC -3'
(R):5'- AGAAGCTCAGTCTTTGTGGTCTAACC -3'
Posted On 2015-01-23