Incidental Mutation 'R7268:Pramel14'
ID 568714
Institutional Source Beutler Lab
Gene Symbol Pramel14
Ensembl Gene ENSMUSG00000078509
Gene Name PRAME like 14
Synonyms Gm13107, Pramef17
MMRRC Submission 045319-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R7268 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 143717697-143720939 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 143720090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105762]
AlphaFold A2ASJ1
Predicted Effect probably null
Transcript: ENSMUST00000105762
SMART Domains Protein: ENSMUSP00000101388
Gene: ENSMUSG00000078509

DomainStartEndE-ValueType
low complexity region 188 200 N/A INTRINSIC
SCOP:d1a4ya_ 205 408 5e-11 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 99% (72/73)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T C 1: 156,461,509 (GRCm39) probably null Het
Acsf3 A G 8: 123,517,401 (GRCm39) Y399C probably benign Het
Acsm5 A T 7: 119,136,511 (GRCm39) T361S probably benign Het
Agap1 T G 1: 89,694,070 (GRCm39) I456S probably benign Het
Ahnak2 A T 12: 112,780,802 (GRCm38) V70E Het
Alb T A 5: 90,610,575 (GRCm39) S52T probably benign Het
Ankle1 A G 8: 71,860,189 (GRCm39) T256A probably damaging Het
Armt1 G A 10: 4,400,855 (GRCm39) V201M possibly damaging Het
Atp2a2 T C 5: 122,605,792 (GRCm39) T388A probably benign Het
Atp6v0a2 T C 5: 124,796,930 (GRCm39) L770P probably damaging Het
B4galnt3 A T 6: 120,192,003 (GRCm39) W578R possibly damaging Het
Babam2 T C 5: 31,859,197 (GRCm39) S2P probably damaging Het
Baz2a A G 10: 127,960,090 (GRCm39) H1459R possibly damaging Het
Bbs7 C T 3: 36,658,575 (GRCm39) R233Q probably benign Het
Cacna2d1 G A 5: 16,575,586 (GRCm39) G1076R probably damaging Het
Camsap2 C T 1: 136,201,483 (GRCm39) probably null Het
Car10 A G 11: 93,490,077 (GRCm39) N273D probably benign Het
Ccdc66 T C 14: 27,208,880 (GRCm39) D458G probably benign Het
Ccdc7a T A 8: 129,607,633 (GRCm39) H982L possibly damaging Het
Col9a1 A G 1: 24,246,479 (GRCm39) K386E possibly damaging Het
Ctcfl A G 2: 172,949,588 (GRCm39) I415T probably benign Het
Cyp3a16 G C 5: 145,404,280 (GRCm39) Y54* probably null Het
Dact2 T C 17: 14,416,797 (GRCm39) T468A probably benign Het
Dgkb T A 12: 38,197,554 (GRCm39) L355* probably null Het
Dhx40 A T 11: 86,697,442 (GRCm39) C42S possibly damaging Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dop1a G T 9: 86,394,830 (GRCm39) E637* probably null Het
Dpp4 G T 2: 62,178,186 (GRCm39) P649T probably damaging Het
Eri3 T A 4: 117,506,580 (GRCm39) I303K probably benign Het
Foxi1 A T 11: 34,155,783 (GRCm39) Y282* probably null Het
Gdi2 T A 13: 3,606,363 (GRCm39) Y146* probably null Het
Gns A G 10: 121,212,557 (GRCm39) Y173C probably damaging Het
Gpc1 C A 1: 92,786,093 (GRCm39) P494Q possibly damaging Het
Habp2 G T 19: 56,302,518 (GRCm39) G274V probably damaging Het
Hcfc2 T A 10: 82,544,846 (GRCm39) Y159* probably null Het
Hmcn2 T A 2: 31,347,978 (GRCm39) S4875T possibly damaging Het
Hmgcs2 A G 3: 98,204,796 (GRCm39) N318S probably benign Het
Lnpep A T 17: 17,758,803 (GRCm39) M847K probably benign Het
Mmp16 A C 4: 18,093,366 (GRCm39) M374L probably benign Het
Mrpl38 A G 11: 116,029,396 (GRCm39) I40T possibly damaging Het
Ncstn T C 1: 171,908,830 (GRCm39) T46A possibly damaging Het
Nlrp1a C T 11: 71,015,068 (GRCm39) V61I probably benign Het
Npas2 G T 1: 39,326,658 (GRCm39) V48L probably damaging Het
Or13p5 A G 4: 118,592,605 (GRCm39) Y293C probably damaging Het
Or52ac1 G A 7: 104,246,284 (GRCm39) L35F probably benign Het
Or6c6 C T 10: 129,187,263 (GRCm39) T277I possibly damaging Het
Pcyox1 A T 6: 86,368,713 (GRCm39) N268K possibly damaging Het
Prr27 T C 5: 87,991,135 (GRCm39) L249P probably damaging Het
Psat1 A T 19: 15,894,508 (GRCm39) V168D probably damaging Het
Psg17 G T 7: 18,548,586 (GRCm39) T395K possibly damaging Het
Ptgis A G 2: 167,048,676 (GRCm39) Y447H probably benign Het
Rad50 T A 11: 53,575,102 (GRCm39) N607I probably benign Het
Rps6ka2 T C 17: 7,562,662 (GRCm39) Y602H possibly damaging Het
Senp6 G A 9: 80,049,406 (GRCm39) R1010H probably damaging Het
Slc8a3 C A 12: 81,361,827 (GRCm39) D331Y probably damaging Het
Slc9c1 G A 16: 45,370,479 (GRCm39) S240N probably damaging Het
Slf1 A G 13: 77,214,826 (GRCm39) L620P probably damaging Het
Snx19 A G 9: 30,351,473 (GRCm39) E847G probably damaging Het
Spaca6 T C 17: 18,052,369 (GRCm39) V103A probably benign Het
Tbk1 A G 10: 121,388,404 (GRCm39) Y591H probably benign Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Tfap2a G A 13: 40,882,236 (GRCm39) T15I possibly damaging Het
Tgm2 G A 2: 157,962,188 (GRCm39) R544* probably null Het
Tmem116 T A 5: 121,605,918 (GRCm39) I90K Het
Tmem30c A C 16: 57,086,777 (GRCm39) L342R probably damaging Het
Trpm6 C T 19: 18,755,949 (GRCm39) T64I probably benign Het
Ttll8 A G 15: 88,819,159 (GRCm39) probably null Het
Vcpip1 A G 1: 9,816,307 (GRCm39) I692T probably damaging Het
Vmn1r169 T G 7: 23,276,853 (GRCm39) F82V probably benign Het
Vmn1r178 G A 7: 23,593,378 (GRCm39) C142Y probably benign Het
Vmn2r16 T A 5: 109,488,331 (GRCm39) Y401* probably null Het
Wdr91 A G 6: 34,869,375 (GRCm39) V383A probably benign Het
Other mutations in Pramel14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Pramel14 APN 4 143,719,894 (GRCm39) missense probably benign 0.01
IGL01981:Pramel14 APN 4 143,720,924 (GRCm39) missense probably damaging 1.00
IGL02322:Pramel14 APN 4 143,718,591 (GRCm39) splice site probably benign
IGL02514:Pramel14 APN 4 143,719,772 (GRCm39) missense probably benign 0.12
IGL02806:Pramel14 APN 4 143,719,501 (GRCm39) splice site probably null
IGL02888:Pramel14 APN 4 143,720,669 (GRCm39) missense probably benign 0.42
IGL03032:Pramel14 APN 4 143,719,815 (GRCm39) missense probably damaging 1.00
R0269:Pramel14 UTSW 4 143,720,088 (GRCm39) splice site probably benign
R0363:Pramel14 UTSW 4 143,718,221 (GRCm39) missense probably benign 0.01
R0617:Pramel14 UTSW 4 143,720,088 (GRCm39) splice site probably benign
R1456:Pramel14 UTSW 4 143,719,851 (GRCm39) missense probably benign
R1475:Pramel14 UTSW 4 143,720,882 (GRCm39) missense probably benign 0.00
R1724:Pramel14 UTSW 4 143,720,002 (GRCm39) missense probably benign 0.00
R2158:Pramel14 UTSW 4 143,720,885 (GRCm39) missense possibly damaging 0.65
R2210:Pramel14 UTSW 4 143,720,789 (GRCm39) missense probably benign
R3834:Pramel14 UTSW 4 143,720,796 (GRCm39) missense probably benign 0.01
R4438:Pramel14 UTSW 4 143,718,192 (GRCm39) missense probably damaging 1.00
R5152:Pramel14 UTSW 4 143,720,830 (GRCm39) missense probably damaging 0.97
R5832:Pramel14 UTSW 4 143,718,532 (GRCm39) missense probably damaging 0.98
R6809:Pramel14 UTSW 4 143,719,651 (GRCm39) missense probably benign 0.01
R6986:Pramel14 UTSW 4 143,719,888 (GRCm39) missense probably damaging 0.99
R7072:Pramel14 UTSW 4 143,720,698 (GRCm39) missense probably damaging 0.97
R7144:Pramel14 UTSW 4 143,718,103 (GRCm39) missense probably benign 0.43
R7737:Pramel14 UTSW 4 143,718,526 (GRCm39) missense possibly damaging 0.89
R8048:Pramel14 UTSW 4 143,718,177 (GRCm39) missense probably benign 0.04
R8074:Pramel14 UTSW 4 143,718,424 (GRCm39) missense probably benign 0.00
R8342:Pramel14 UTSW 4 143,720,809 (GRCm39) missense probably benign
R8855:Pramel14 UTSW 4 143,720,905 (GRCm39) missense probably damaging 0.97
R9105:Pramel14 UTSW 4 143,718,595 (GRCm39) splice site probably benign
R9490:Pramel14 UTSW 4 143,719,606 (GRCm39) missense probably benign 0.01
R9633:Pramel14 UTSW 4 143,720,818 (GRCm39) missense possibly damaging 0.78
R9671:Pramel14 UTSW 4 143,719,687 (GRCm39) missense probably benign 0.16
R9685:Pramel14 UTSW 4 143,719,520 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGCTGTTTATCTTCATGCCGAG -3'
(R):5'- GTAGAGAAACAGGGCTGGTCTC -3'

Sequencing Primer
(F):5'- TCTTCATGCCGAGAAGACTTG -3'
(R):5'- CTCCAGATGTGGTTCAGGTAAAG -3'
Posted On 2019-09-13