Incidental Mutation 'R2272:Pramel22'
ID 242546
Institutional Source Beutler Lab
Gene Symbol Pramel22
Ensembl Gene ENSMUSG00000078513
Gene Name PRAME like 22
Synonyms Gm13088
MMRRC Submission 040272-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R2272 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 143380330-143383816 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 143380712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 437 (T437I)
Ref Sequence ENSEMBL: ENSMUSP00000101397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105771]
AlphaFold A2AGW6
Predicted Effect probably damaging
Transcript: ENSMUST00000105771
AA Change: T437I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101397
Gene: ENSMUSG00000078513
AA Change: T437I

DomainStartEndE-ValueType
low complexity region 188 202 N/A INTRINSIC
low complexity region 372 391 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 A T 1: 165,337,866 (GRCm39) E160V probably damaging Het
Ago1 C A 4: 126,347,443 (GRCm39) M435I probably benign Het
Apol7b G A 15: 77,307,910 (GRCm39) A195V probably damaging Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Atg2b C T 12: 105,604,267 (GRCm39) V1545I probably benign Het
Atp4a C A 7: 30,414,925 (GRCm39) S238* probably null Het
Birc6 T C 17: 74,909,966 (GRCm39) V1453A probably benign Het
Bmal2 T C 6: 146,723,612 (GRCm39) F314S probably damaging Het
Brinp3 A G 1: 146,777,142 (GRCm39) R530G possibly damaging Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Cdh22 A T 2: 164,985,767 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,915 (GRCm39) S1178R probably benign Het
Cdkl3 T C 11: 51,923,322 (GRCm39) V45A probably benign Het
Cracr2a T A 6: 127,584,261 (GRCm39) F107I probably damaging Het
Cyfip1 G T 7: 55,549,705 (GRCm39) R624L probably null Het
Ddc T C 11: 11,785,764 (GRCm39) N308D probably damaging Het
Dnah10 A G 5: 124,808,530 (GRCm39) N195S probably benign Het
Dnah9 T C 11: 66,003,188 (GRCm39) D872G probably benign Het
Fmo1 A T 1: 162,661,424 (GRCm39) D286E probably damaging Het
Fmo4 A T 1: 162,626,616 (GRCm39) I310N possibly damaging Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Hydin A T 8: 111,035,764 (GRCm39) I152L probably benign Het
Itpr1 T A 6: 108,470,716 (GRCm39) C2214S probably damaging Het
Kcnq3 T A 15: 65,900,529 (GRCm39) D242V probably damaging Het
Klhl1 T C 14: 96,755,344 (GRCm39) D137G probably benign Het
Lama5 T C 2: 179,820,396 (GRCm39) D3282G possibly damaging Het
Lhx8 A G 3: 154,022,399 (GRCm39) L254S probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Matn4 A T 2: 164,239,162 (GRCm39) C232S possibly damaging Het
Mios C T 6: 8,226,865 (GRCm39) R614C possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Muc6 T A 7: 141,217,423 (GRCm39) T2417S possibly damaging Het
Mycbp2 T C 14: 103,381,774 (GRCm39) H3612R probably null Het
Myo5b G T 18: 74,866,996 (GRCm39) L1382F probably damaging Het
Myo7b C T 18: 32,110,096 (GRCm39) S1122N probably benign Het
Myo9a T A 9: 59,722,584 (GRCm39) F549I probably damaging Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Neil1 A G 9: 57,054,069 (GRCm39) S84P probably damaging Het
Nfix A G 8: 85,453,804 (GRCm39) I256T probably damaging Het
Nlrp4f A T 13: 65,342,222 (GRCm39) D474E probably benign Het
Or5ac21 T G 16: 59,123,807 (GRCm39) M98R possibly damaging Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
Pcnx1 T C 12: 82,042,088 (GRCm39) V2240A probably benign Het
Per3 T A 4: 151,103,342 (GRCm39) Y530F probably damaging Het
Pes1 C A 11: 3,919,524 (GRCm39) L66I probably damaging Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prpf8 T A 11: 75,386,189 (GRCm39) V946E probably damaging Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Prss54 C T 8: 96,297,735 (GRCm39) W45* probably null Het
Psg29 A T 7: 16,944,621 (GRCm39) N377I probably benign Het
Rab3gap2 T A 1: 185,015,739 (GRCm39) probably null Het
Serpinb9c C T 13: 33,338,524 (GRCm39) G125E probably damaging Het
Skint4 A G 4: 111,977,065 (GRCm39) T152A probably benign Het
Slc26a2 A G 18: 61,331,650 (GRCm39) C594R possibly damaging Het
Slc47a2 A T 11: 61,219,352 (GRCm39) probably null Het
Ttc39d A G 17: 80,524,675 (GRCm39) K445E probably damaging Het
Ttn T A 2: 76,594,864 (GRCm39) E20394V probably damaging Het
Ugt2b36 A G 5: 87,214,114 (GRCm39) V510A possibly damaging Het
Usf1 T C 1: 171,245,628 (GRCm39) L291P possibly damaging Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Vmn1r172 A C 7: 23,359,616 (GRCm39) D167A probably damaging Het
Wnt10b T A 15: 98,672,228 (GRCm39) Q163L probably damaging 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
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
R5982:Pramel22 UTSW 4 143,381,034 (GRCm39) missense probably damaging 0.99
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'- CAGCTCAGAGGAAGATCTTGCC -3'
(R):5'- TCTACAGCACACATCCAAGTTG -3'

Sequencing Primer
(F):5'- AGGTGGTTGACATATCCATGCTCC -3'
(R):5'- TCCAAGTTGACACAGCTGAG -3'
Posted On 2014-10-16