Incidental Mutation 'R7991:Pramel6'
ID 651717
Institutional Source Beutler Lab
Gene Symbol Pramel6
Ensembl Gene ENSMUSG00000025838
Gene Name PRAME like 6
Synonyms
MMRRC Submission 046032-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R7991 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 87336909-87341209 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87340031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 265 (L265Q)
Ref Sequence ENSEMBL: ENSMUSP00000026956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026956] [ENSMUST00000111572]
AlphaFold Q810Y9
Predicted Effect probably benign
Transcript: ENSMUST00000026956
AA Change: L265Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026956
Gene: ENSMUSG00000025838
AA Change: L265Q

DomainStartEndE-ValueType
low complexity region 17 31 N/A INTRINSIC
SCOP:d1a4ya_ 223 411 5e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111572
AA Change: L265Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107198
Gene: ENSMUSG00000025838
AA Change: L265Q

DomainStartEndE-ValueType
low complexity region 17 31 N/A INTRINSIC
SCOP:d1a4ya_ 223 411 5e-8 SMART
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A G 18: 59,185,726 (GRCm39) D1200G probably damaging Het
Adnp2 A G 18: 80,172,537 (GRCm39) L624P probably damaging Het
Akap9 A G 5: 4,114,949 (GRCm39) probably null Het
Ap2a2 A G 7: 141,189,760 (GRCm39) Y249C probably damaging Het
Asxl2 A T 12: 3,534,531 (GRCm39) N243Y probably damaging Het
Btnl4 A G 17: 34,693,257 (GRCm39) S53P probably damaging Het
Caly T C 7: 139,651,513 (GRCm39) D116G possibly damaging Het
Ccdc121rt2 G A 5: 112,598,791 (GRCm39) R446H probably benign Het
Ccdc168 T A 1: 44,098,869 (GRCm39) H743L probably benign Het
Ccdc81 G A 7: 89,539,609 (GRCm39) A209V probably benign Het
Cdc14a A G 3: 116,101,887 (GRCm39) S347P probably benign Het
Cdh9 G T 15: 16,828,489 (GRCm39) A194S probably damaging Het
Clca3a2 A G 3: 144,519,756 (GRCm39) V206A probably benign Het
Clca4a A T 3: 144,658,500 (GRCm39) V905E possibly damaging Het
Cluap1 A G 16: 3,746,485 (GRCm39) E282G probably damaging Het
Cmtm2b T A 8: 105,056,419 (GRCm39) C109* probably null Het
Crtac1 T C 19: 42,322,399 (GRCm39) N114D probably benign Het
Dennd1b T C 1: 139,013,634 (GRCm39) Y168H Het
Dock6 T C 9: 21,757,858 (GRCm39) D82G probably damaging Het
Eps8 C T 6: 137,505,569 (GRCm39) R53Q possibly damaging Het
Erfl G A 7: 24,627,975 (GRCm39) P185S possibly damaging Het
Fh1 T C 1: 175,437,337 (GRCm39) Y254C probably damaging Het
H2-Q1 T A 17: 35,540,356 (GRCm39) L147Q probably damaging Het
H3c8 T A 13: 23,719,887 (GRCm39) M91K probably benign Het
Hnrnpu A T 1: 178,159,871 (GRCm39) D403E unknown Het
Il34 T C 8: 111,476,122 (GRCm39) K33E probably benign Het
Klhl20 A G 1: 160,934,434 (GRCm39) V195A possibly damaging Het
Lair1 G T 7: 4,031,969 (GRCm39) T46N probably damaging Het
Lama4 A G 10: 38,921,805 (GRCm39) E442G possibly damaging Het
Lifr A T 15: 7,202,963 (GRCm39) I400F possibly damaging Het
Man2a1 T C 17: 64,908,771 (GRCm39) I14T probably benign Het
Or13p10 T A 4: 118,523,489 (GRCm39) C258* probably null Het
Or1ad8 T G 11: 50,898,071 (GRCm39) S91A possibly damaging Het
Or4z4 A C 19: 12,076,190 (GRCm39) V271G possibly damaging Het
Or51h7 A G 7: 102,591,760 (GRCm39) L8P probably benign Het
Or5an10 T A 19: 12,275,639 (GRCm39) I286F probably damaging Het
Or8s10 T C 15: 98,335,419 (GRCm39) I23T probably benign Het
Papss2 G T 19: 32,629,403 (GRCm39) V331F possibly damaging Het
Pcdha11 T C 18: 37,145,909 (GRCm39) S667P probably damaging Het
Pcolce A T 5: 137,607,390 (GRCm39) S75T probably benign Het
Phf20l1 A C 15: 66,502,768 (GRCm39) D716A possibly damaging Het
Pkd1 A G 17: 24,791,595 (GRCm39) E1094G possibly damaging Het
Ppm1h A G 10: 122,618,152 (GRCm39) K104E probably benign Het
Ppp6r3 T C 19: 3,509,750 (GRCm39) Y195C probably benign Het
Prc1 A T 7: 79,961,969 (GRCm39) N489I possibly damaging Het
Prss59 A C 6: 40,905,444 (GRCm39) probably null Het
Psg22 A C 7: 18,460,861 (GRCm39) N497H probably damaging Het
Pum3 T A 19: 27,389,620 (GRCm39) I411F possibly damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rev3l A T 10: 39,739,734 (GRCm39) I2861L possibly damaging Het
Rsf1 A C 7: 97,310,540 (GRCm39) K423N Het
Samd4b A G 7: 28,103,458 (GRCm39) I553T probably benign Het
Septin3 A G 15: 82,170,654 (GRCm39) E216G probably benign Het
Sppl2c T C 11: 104,078,640 (GRCm39) V480A possibly damaging Het
Sppl2c A G 11: 104,078,189 (GRCm39) T330A probably benign Het
Srebf2 A G 15: 82,088,253 (GRCm39) D1073G probably damaging Het
Sv2c C T 13: 96,224,797 (GRCm39) V171M probably damaging Het
Tbc1d4 T A 14: 101,845,715 (GRCm39) E61V probably damaging Het
Tnc T A 4: 63,926,983 (GRCm39) T848S probably benign Het
Trmt5 A G 12: 73,329,439 (GRCm39) Y240H probably damaging Het
Trpv1 T C 11: 73,132,583 (GRCm39) V399A possibly damaging Het
Tstd2 T C 4: 46,133,646 (GRCm39) T59A unknown Het
Ubash3a T A 17: 31,456,869 (GRCm39) L510M probably benign Het
Ubr3 T A 2: 69,783,200 (GRCm39) I713N probably damaging Het
Upf3a A G 8: 13,842,166 (GRCm39) E194G probably damaging Het
Usp22 A T 11: 61,065,588 (GRCm39) Y42N probably benign Het
Vav3 T A 3: 109,470,478 (GRCm39) C555S probably damaging Het
Vmn1r210 T A 13: 23,011,684 (GRCm39) M201L probably benign Het
Wdr64 C A 1: 175,554,051 (GRCm39) Q194K probably benign Het
Other mutations in Pramel6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:Pramel6 APN 2 87,341,129 (GRCm39) utr 3 prime probably benign
IGL02867:Pramel6 APN 2 87,340,736 (GRCm39) missense probably damaging 0.98
IGL03212:Pramel6 APN 2 87,340,769 (GRCm39) missense probably damaging 1.00
R1453:Pramel6 UTSW 2 87,338,917 (GRCm39) missense possibly damaging 0.83
R1905:Pramel6 UTSW 2 87,339,527 (GRCm39) missense probably damaging 0.99
R1905:Pramel6 UTSW 2 87,339,526 (GRCm39) missense probably damaging 1.00
R1940:Pramel6 UTSW 2 87,339,076 (GRCm39) missense probably damaging 1.00
R2057:Pramel6 UTSW 2 87,339,059 (GRCm39) missense possibly damaging 0.92
R2073:Pramel6 UTSW 2 87,339,088 (GRCm39) missense probably damaging 1.00
R3423:Pramel6 UTSW 2 87,341,140 (GRCm39) splice site probably null
R3500:Pramel6 UTSW 2 87,339,569 (GRCm39) missense probably damaging 0.96
R4097:Pramel6 UTSW 2 87,339,697 (GRCm39) missense probably benign 0.19
R4396:Pramel6 UTSW 2 87,338,874 (GRCm39) missense probably damaging 1.00
R4538:Pramel6 UTSW 2 87,338,903 (GRCm39) missense probably benign 0.02
R4719:Pramel6 UTSW 2 87,341,096 (GRCm39) missense probably benign 0.00
R4779:Pramel6 UTSW 2 87,339,941 (GRCm39) missense probably benign 0.01
R6054:Pramel6 UTSW 2 87,339,003 (GRCm39) missense probably benign 0.07
R6457:Pramel6 UTSW 2 87,339,782 (GRCm39) missense probably damaging 0.99
R6477:Pramel6 UTSW 2 87,340,946 (GRCm39) missense possibly damaging 0.92
R6492:Pramel6 UTSW 2 87,340,766 (GRCm39) missense probably benign 0.19
R6684:Pramel6 UTSW 2 87,339,748 (GRCm39) missense probably damaging 1.00
R6983:Pramel6 UTSW 2 87,339,923 (GRCm39) missense possibly damaging 0.94
R7351:Pramel6 UTSW 2 87,340,672 (GRCm39) missense probably benign 0.00
R7357:Pramel6 UTSW 2 87,340,856 (GRCm39) missense not run
R7748:Pramel6 UTSW 2 87,339,043 (GRCm39) missense probably damaging 1.00
R8116:Pramel6 UTSW 2 87,338,808 (GRCm39) missense probably benign 0.02
R8367:Pramel6 UTSW 2 87,340,814 (GRCm39) missense probably damaging 1.00
R8487:Pramel6 UTSW 2 87,339,045 (GRCm39) missense probably damaging 1.00
R9521:Pramel6 UTSW 2 87,340,629 (GRCm39) nonsense probably null
Z1176:Pramel6 UTSW 2 87,339,066 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGTGCCTCACCAGTCTCTAATG -3'
(R):5'- CTAGGTTTACAGTGGTCAGACC -3'

Sequencing Primer
(F):5'- TTAAACTGTATCCTGGAGCTACAGC -3'
(R):5'- CCATCAAGGTCTTACTAACAACTTC -3'
Posted On 2020-09-15