Incidental Mutation 'R7268:Pramef17'
ID568714
Institutional Source Beutler Lab
Gene Symbol Pramef17
Ensembl Gene ENSMUSG00000078509
Gene NamePRAME family member 17
SynonymsGm13107
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #R7268 (G1)
Quality Score225.009
Status Validated
Chromosome4
Chromosomal Location143991119-143994369 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 143993520 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105762]
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
4930402H24Rik C A 2: 130,806,788 R258L unknown Het
Abl2 T C 1: 156,633,939 probably null Het
Acsf3 A G 8: 122,790,662 Y399C probably benign Het
Acsm5 A T 7: 119,537,288 T361S probably benign Het
Agap1 T G 1: 89,766,348 I456S probably benign Het
Ahnak2 A T 12: 112,780,802 V70E Het
Alb T A 5: 90,462,716 S52T probably benign Het
Ankle1 A G 8: 71,407,545 T256A probably damaging Het
Armt1 G A 10: 4,450,855 V201M possibly damaging Het
Atp2a2 T C 5: 122,467,729 T388A probably benign Het
Atp6v0a2 T C 5: 124,719,866 L770P probably damaging Het
B4galnt3 A T 6: 120,215,042 W578R possibly damaging Het
Babam2 T C 5: 31,701,853 S2P probably damaging Het
Baz2a A G 10: 128,124,221 H1459R possibly damaging Het
Bbs7 C T 3: 36,604,426 R233Q probably benign Het
Cacna2d1 G A 5: 16,370,588 G1076R probably damaging Het
Camsap2 C T 1: 136,273,745 probably null Het
Car10 A G 11: 93,599,251 N273D probably benign Het
Ccdc66 T C 14: 27,486,923 D458G probably benign Het
Ccdc7a T A 8: 128,881,152 H982L possibly damaging Het
Col9a1 A G 1: 24,207,398 K386E possibly damaging Het
Ctcfl A G 2: 173,107,795 I415T probably benign Het
Cyp3a16 G C 5: 145,467,470 Y54* probably null Het
Dact2 T C 17: 14,196,535 T468A probably benign Het
Dgkb T A 12: 38,147,555 L355* probably null Het
Dhx40 A T 11: 86,806,616 C42S possibly damaging Het
Dopey1 G T 9: 86,512,777 E637* probably null Het
Dpp4 G T 2: 62,347,842 P649T probably damaging Het
Eri3 T A 4: 117,649,383 I303K probably benign Het
Foxi1 A T 11: 34,205,783 Y282* probably null Het
Gdi2 T A 13: 3,556,363 Y146* probably null Het
Gns A G 10: 121,376,652 Y173C probably damaging Het
Gpc1 C A 1: 92,858,371 P494Q possibly damaging Het
Habp2 G T 19: 56,314,086 G274V probably damaging Het
Hcfc2 T A 10: 82,709,012 Y159* probably null Het
Hmcn2 T A 2: 31,457,966 S4875T possibly damaging Het
Hmgcs2 A G 3: 98,297,480 N318S probably benign Het
Lnpep A T 17: 17,538,541 M847K probably benign Het
Mmp16 A C 4: 18,093,366 M374L probably benign Het
Mrpl38 A G 11: 116,138,570 I40T possibly damaging Het
Ncstn T C 1: 172,081,263 T46A possibly damaging Het
Nlrp1a C T 11: 71,124,242 V61I probably benign Het
Npas2 G T 1: 39,287,577 V48L probably damaging Het
Olfr1339 A G 4: 118,735,408 Y293C probably damaging Het
Olfr655 G A 7: 104,597,077 L35F probably benign Het
Olfr782 C T 10: 129,351,394 T277I possibly damaging Het
Pcyox1 A T 6: 86,391,731 N268K possibly damaging Het
Prr27 T C 5: 87,843,276 L249P probably damaging Het
Psat1 A T 19: 15,917,144 V168D probably damaging Het
Psg17 G T 7: 18,814,661 T395K possibly damaging Het
Ptgis A G 2: 167,206,756 Y447H probably benign Het
Rad50 T A 11: 53,684,275 N607I probably benign Het
Rps6ka2 T C 17: 7,295,263 Y602H possibly damaging Het
Senp6 G A 9: 80,142,124 R1010H probably damaging Het
Slc8a3 C A 12: 81,315,053 D331Y probably damaging Het
Slc9c1 G A 16: 45,550,116 S240N probably damaging Het
Slf1 A G 13: 77,066,707 L620P probably damaging Het
Snx19 A G 9: 30,440,177 E847G probably damaging Het
Spaca6 T C 17: 17,832,107 V103A probably benign Het
Tbk1 A G 10: 121,552,499 Y591H probably benign Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,446,708 probably benign Het
Tfap2a G A 13: 40,728,760 T15I possibly damaging Het
Tgm2 G A 2: 158,120,268 R544* probably null Het
Tmem116 T A 5: 121,467,855 I90K Het
Tmem30c A C 16: 57,266,414 L342R probably damaging Het
Trpm6 C T 19: 18,778,585 T64I probably benign Het
Ttll8 A G 15: 88,934,956 probably null Het
Vcpip1 A G 1: 9,746,082 I692T probably damaging Het
Vmn1r169 T G 7: 23,577,428 F82V probably benign Het
Vmn1r178 G A 7: 23,893,953 C142Y probably benign Het
Vmn2r16 T A 5: 109,340,465 Y401* probably null Het
Wdr91 A G 6: 34,892,440 V383A probably benign Het
Other mutations in Pramef17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Pramef17 APN 4 143993324 missense probably benign 0.01
IGL01981:Pramef17 APN 4 143994354 missense probably damaging 1.00
IGL02322:Pramef17 APN 4 143992021 splice site probably benign
IGL02514:Pramef17 APN 4 143993202 missense probably benign 0.12
IGL02806:Pramef17 APN 4 143992931 splice site probably null
IGL02888:Pramef17 APN 4 143994099 missense probably benign 0.42
IGL03032:Pramef17 APN 4 143993245 missense probably damaging 1.00
R0269:Pramef17 UTSW 4 143993518 splice site probably benign
R0363:Pramef17 UTSW 4 143991651 missense probably benign 0.01
R0617:Pramef17 UTSW 4 143993518 splice site probably benign
R1456:Pramef17 UTSW 4 143993281 missense probably benign
R1475:Pramef17 UTSW 4 143994312 missense probably benign 0.00
R1724:Pramef17 UTSW 4 143993432 missense probably benign 0.00
R2158:Pramef17 UTSW 4 143994315 missense possibly damaging 0.65
R2210:Pramef17 UTSW 4 143994219 missense probably benign
R3834:Pramef17 UTSW 4 143994226 missense probably benign 0.01
R4438:Pramef17 UTSW 4 143991622 missense probably damaging 1.00
R5152:Pramef17 UTSW 4 143994260 missense probably damaging 0.97
R5832:Pramef17 UTSW 4 143991962 missense probably damaging 0.98
R6809:Pramef17 UTSW 4 143993081 missense probably benign 0.01
R6986:Pramef17 UTSW 4 143993318 missense probably damaging 0.99
R7072:Pramef17 UTSW 4 143994128 missense probably damaging 0.97
R7144:Pramef17 UTSW 4 143991533 missense probably benign 0.43
R7737:Pramef17 UTSW 4 143991956 missense possibly damaging 0.89
R8048:Pramef17 UTSW 4 143991607 missense probably benign 0.04
R8074:Pramef17 UTSW 4 143991854 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCTGTTTATCTTCATGCCGAG -3'
(R):5'- GTAGAGAAACAGGGCTGGTCTC -3'

Sequencing Primer
(F):5'- TCTTCATGCCGAGAAGACTTG -3'
(R):5'- CTCCAGATGTGGTTCAGGTAAAG -3'
Posted On2019-09-13