Incidental Mutation 'R5982:Pramel22'
ID 481440
Institutional Source Beutler Lab
Gene Symbol Pramel22
Ensembl Gene ENSMUSG00000078513
Gene Name PRAME like 22
Synonyms Gm13088
MMRRC Submission 044163-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R5982 (G1)
Quality Score 199.009
Status Validated
Chromosome 4
Chromosomal Location 143380330-143383816 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 143381034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 330 (V330F)
Ref Sequence ENSEMBL: ENSMUSP00000101397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105771]
AlphaFold A2AGW6
Predicted Effect probably damaging
Transcript: ENSMUST00000105771
AA Change: V330F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101397
Gene: ENSMUSG00000078513
AA Change: V330F

DomainStartEndE-ValueType
low complexity region 188 202 N/A INTRINSIC
low complexity region 372 391 N/A INTRINSIC
Meta Mutation Damage Score 0.6043 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 98% (81/83)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,844,423 (GRCm39) E931D possibly damaging Het
Aebp1 C T 11: 5,817,911 (GRCm39) T62I possibly damaging Het
Babam2 A T 5: 31,977,964 (GRCm39) E139V possibly damaging Het
Bclaf1 C T 10: 20,198,809 (GRCm39) R67* probably null Het
Bcr C A 10: 75,012,248 (GRCm39) T51K probably benign Het
Best3 T A 10: 116,840,322 (GRCm39) C251S probably damaging Het
Birc6 A G 17: 74,955,153 (GRCm39) M3457V probably benign Het
C87436 C A 6: 86,422,957 (GRCm39) T177K possibly damaging Het
Cabin1 T A 10: 75,561,394 (GRCm39) T1036S probably benign Het
Catsperg2 C A 7: 29,412,442 (GRCm39) V383L possibly damaging Het
Ccdc182 C T 11: 88,185,165 (GRCm39) Q82* probably null Het
Ccl9 T C 11: 83,466,700 (GRCm39) T76A probably damaging Het
Cdc16 G T 8: 13,831,399 (GRCm39) C544F possibly damaging Het
Cdh18 A C 15: 23,474,302 (GRCm39) D724A possibly damaging Het
Cdip1 G A 16: 4,587,946 (GRCm39) P6S probably damaging Het
Col12a1 A G 9: 79,537,842 (GRCm39) V2542A probably damaging Het
Dnajc13 G T 9: 104,061,814 (GRCm39) T1380K possibly damaging Het
Dsg4 T A 18: 20,598,226 (GRCm39) S715T possibly damaging Het
Dync2h1 G T 9: 6,955,986 (GRCm39) T4132K probably benign Het
Egfem1 A T 3: 29,711,419 (GRCm39) probably null Het
Etl4 G T 2: 20,785,826 (GRCm39) V716L probably damaging Het
Exoc3l2 A G 7: 19,213,957 (GRCm39) E461G unknown Het
Fam135b A G 15: 71,320,518 (GRCm39) probably null Het
Flrt3 G T 2: 140,502,836 (GRCm39) P264Q possibly damaging Het
Fmn2 G C 1: 174,330,019 (GRCm39) E136D unknown Het
Fosl2 A G 5: 32,304,217 (GRCm39) I51V probably benign Het
Foxm1 A G 6: 128,347,998 (GRCm39) T307A probably damaging Het
Garem1 T C 18: 21,281,408 (GRCm39) D316G possibly damaging Het
Gm14403 A T 2: 177,200,345 (GRCm39) H97L probably damaging Het
Gm5616 A G 9: 48,361,890 (GRCm39) noncoding transcript Het
Hkdc1 T C 10: 62,229,589 (GRCm39) D696G probably benign Het
Igkv1-88 C A 6: 68,839,432 (GRCm39) W60L probably damaging Het
Iqgap3 G A 3: 87,998,899 (GRCm39) W333* probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnk3 G T 5: 30,780,014 (GRCm39) V355L probably benign Het
Kmt5c A C 7: 4,749,790 (GRCm39) K436T probably damaging Het
Lynx1 T C 15: 74,623,264 (GRCm39) Y56C possibly damaging Het
Lypd5 T C 7: 24,052,462 (GRCm39) S149P probably damaging Het
Map3k21 A T 8: 126,638,169 (GRCm39) N252Y probably damaging Het
Mgat2 T C 12: 69,232,454 (GRCm39) W343R probably damaging Het
Misp T G 10: 79,663,728 (GRCm39) Y567* probably null Het
Mrgprb1 A T 7: 48,097,568 (GRCm39) S115T probably benign Het
Muc16 A C 9: 18,558,442 (GRCm39) I2617R unknown Het
Myo19 T A 11: 84,790,226 (GRCm39) V394E probably damaging Het
Myo9b T A 8: 71,801,040 (GRCm39) L1065Q probably benign Het
Nap1l1 A G 10: 111,331,229 (GRCm39) D405G possibly damaging Het
Napb A T 2: 148,542,411 (GRCm39) probably null Het
Nbas A G 12: 13,443,431 (GRCm39) Y1162C probably benign Het
Nfam1 A T 15: 82,917,325 (GRCm39) L36Q probably damaging Het
Nrros T C 16: 31,963,411 (GRCm39) D202G probably damaging Het
Or51k1 T G 7: 103,661,117 (GRCm39) H264P probably damaging Het
Or7a39 T G 10: 78,715,787 (GRCm39) Y260* probably null Het
Osgin2 T C 4: 15,998,908 (GRCm39) E238G probably benign Het
Papss2 A G 19: 32,616,636 (GRCm39) T221A probably benign Het
Pcdhga12 A C 18: 37,901,084 (GRCm39) K639Q probably damaging Het
Pkhd1l1 T A 15: 44,352,900 (GRCm39) probably null Het
Pmepa1 A G 2: 173,076,105 (GRCm39) S83P possibly damaging Het
Pnp G A 14: 51,188,000 (GRCm39) V118M probably damaging Het
Ppat T C 5: 77,063,112 (GRCm39) T500A probably benign Het
Rab11fip4 A G 11: 79,581,601 (GRCm39) N532S probably benign Het
Rbm25 A G 12: 83,718,725 (GRCm39) D499G probably damaging Het
Rnf139 A G 15: 58,770,687 (GRCm39) I237M possibly damaging Het
Rrp15 C T 1: 186,471,952 (GRCm39) S85N possibly damaging Het
Sidt1 T C 16: 44,082,071 (GRCm39) Y568C probably damaging Het
Slirp A G 12: 87,490,784 (GRCm39) T29A probably damaging Het
Sltm G C 9: 70,494,086 (GRCm39) E828Q probably damaging Het
Spindoc A G 19: 7,351,960 (GRCm39) I129T probably damaging Het
Spire1 T A 18: 67,630,386 (GRCm39) probably null Het
Styx A G 14: 45,605,909 (GRCm39) T138A probably benign Het
Sv2c A T 13: 96,112,571 (GRCm39) L642* probably null Het
Taf7 T C 18: 37,776,498 (GRCm39) E23G probably damaging Het
Tcp10a A T 17: 7,612,425 (GRCm39) T406S possibly damaging Het
Tnrc6b T A 15: 80,765,017 (GRCm39) S840T probably benign Het
Tns3 A G 11: 8,442,245 (GRCm39) I706T probably damaging Het
Tpsab1 A G 17: 25,564,346 (GRCm39) V36A probably benign Het
Trafd1 T A 5: 121,511,342 (GRCm39) D492V probably damaging Het
Trp53 A G 11: 69,478,244 (GRCm39) E51G probably benign Het
Vdr C T 15: 97,755,477 (GRCm39) A349T probably benign Het
Vmn2r59 T C 7: 41,695,491 (GRCm39) D307G probably benign Het
Zfp365 C A 10: 67,733,437 (GRCm39) V252F probably damaging Het
Zfp830 T A 11: 82,655,803 (GRCm39) N202K probably benign Het
Other mutations in Pramel22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Pramel22 APN 4 143,381,887 (GRCm39) missense probably benign 0.00
IGL01418:Pramel22 APN 4 143,381,887 (GRCm39) missense probably benign 0.00
IGL01551:Pramel22 APN 4 143,383,042 (GRCm39) missense probably damaging 0.99
IGL02016:Pramel22 APN 4 143,381,889 (GRCm39) missense possibly damaging 0.52
IGL02157:Pramel22 APN 4 143,380,947 (GRCm39) missense probably damaging 1.00
IGL02433:Pramel22 APN 4 143,382,007 (GRCm39) missense possibly damaging 0.92
IGL02726:Pramel22 APN 4 143,381,955 (GRCm39) missense probably damaging 1.00
IGL02900:Pramel22 APN 4 143,382,085 (GRCm39) missense possibly damaging 0.59
IGL03367:Pramel22 APN 4 143,382,193 (GRCm39) missense possibly damaging 0.46
IGL02835:Pramel22 UTSW 4 143,380,817 (GRCm39) missense probably damaging 1.00
R0141:Pramel22 UTSW 4 143,381,138 (GRCm39) missense probably benign 0.01
R0166:Pramel22 UTSW 4 143,381,081 (GRCm39) missense probably benign 0.00
R0197:Pramel22 UTSW 4 143,383,010 (GRCm39) missense possibly damaging 0.76
R0365:Pramel22 UTSW 4 143,382,071 (GRCm39) nonsense probably null
R0427:Pramel22 UTSW 4 143,380,993 (GRCm39) missense probably benign 0.00
R0701:Pramel22 UTSW 4 143,383,010 (GRCm39) missense possibly damaging 0.76
R0927:Pramel22 UTSW 4 143,380,790 (GRCm39) missense possibly damaging 0.84
R1103:Pramel22 UTSW 4 143,381,942 (GRCm39) missense probably damaging 1.00
R1163:Pramel22 UTSW 4 143,383,204 (GRCm39) missense probably damaging 1.00
R1565:Pramel22 UTSW 4 143,382,187 (GRCm39) nonsense probably null
R1588:Pramel22 UTSW 4 143,382,121 (GRCm39) missense probably damaging 1.00
R1669:Pramel22 UTSW 4 143,380,916 (GRCm39) missense possibly damaging 0.53
R1925:Pramel22 UTSW 4 143,381,025 (GRCm39) missense probably damaging 1.00
R1929:Pramel22 UTSW 4 143,380,712 (GRCm39) missense probably damaging 1.00
R1990:Pramel22 UTSW 4 143,380,838 (GRCm39) missense probably damaging 1.00
R2272:Pramel22 UTSW 4 143,380,712 (GRCm39) missense probably damaging 1.00
R2845:Pramel22 UTSW 4 143,380,868 (GRCm39) missense probably damaging 0.99
R3819:Pramel22 UTSW 4 143,382,365 (GRCm39) missense probably benign 0.02
R4660:Pramel22 UTSW 4 143,380,847 (GRCm39) missense probably benign 0.01
R4857:Pramel22 UTSW 4 143,383,158 (GRCm39) missense possibly damaging 0.65
R4888:Pramel22 UTSW 4 143,380,971 (GRCm39) missense probably benign 0.33
R5004:Pramel22 UTSW 4 143,380,706 (GRCm39) missense probably benign
R5242:Pramel22 UTSW 4 143,382,181 (GRCm39) missense probably benign 0.38
R5246:Pramel22 UTSW 4 143,382,127 (GRCm39) missense probably benign 0.00
R5596:Pramel22 UTSW 4 143,381,025 (GRCm39) missense probably damaging 1.00
R5735:Pramel22 UTSW 4 143,381,205 (GRCm39) missense probably damaging 1.00
R5841:Pramel22 UTSW 4 143,382,109 (GRCm39) missense possibly damaging 0.95
R6052:Pramel22 UTSW 4 143,382,222 (GRCm39) missense probably damaging 1.00
R6169:Pramel22 UTSW 4 143,380,685 (GRCm39) missense probably benign 0.04
R6403:Pramel22 UTSW 4 143,382,343 (GRCm39) nonsense probably null
R6584:Pramel22 UTSW 4 143,382,040 (GRCm39) missense possibly damaging 0.74
R6898:Pramel22 UTSW 4 143,382,053 (GRCm39) missense probably damaging 1.00
R7438:Pramel22 UTSW 4 143,382,130 (GRCm39) missense probably damaging 0.96
R7563:Pramel22 UTSW 4 143,380,675 (GRCm39) nonsense probably null
R7674:Pramel22 UTSW 4 143,382,175 (GRCm39) nonsense probably null
R7792:Pramel22 UTSW 4 143,381,123 (GRCm39) missense probably benign 0.00
R7796:Pramel22 UTSW 4 143,380,727 (GRCm39) missense possibly damaging 0.57
R7915:Pramel22 UTSW 4 143,382,315 (GRCm39) missense possibly damaging 0.94
R7921:Pramel22 UTSW 4 143,383,135 (GRCm39) missense probably damaging 0.97
R8213:Pramel22 UTSW 4 143,380,755 (GRCm39) missense probably benign 0.00
R8419:Pramel22 UTSW 4 143,382,997 (GRCm39) missense probably damaging 0.99
R8813:Pramel22 UTSW 4 143,380,913 (GRCm39) missense probably damaging 1.00
R8844:Pramel22 UTSW 4 143,380,976 (GRCm39) missense probably damaging 0.99
R8893:Pramel22 UTSW 4 143,382,060 (GRCm39) missense probably damaging 1.00
R9098:Pramel22 UTSW 4 143,381,097 (GRCm39) missense probably benign 0.01
R9185:Pramel22 UTSW 4 143,381,898 (GRCm39) missense probably benign 0.03
R9422:Pramel22 UTSW 4 143,382,982 (GRCm39) missense probably damaging 1.00
X0021:Pramel22 UTSW 4 143,382,318 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CTGTCATCATAGCACTCATGAGGG -3'
(R):5'- GGTGCCTGAAGAAGCCATTG -3'

Sequencing Primer
(F):5'- GGGTACATCTCATAGCTCAGCTG -3'
(R):5'- TGCCTGAAGAAGCCATTGGTATC -3'
Posted On 2017-06-26