Incidental Mutation 'R7165:Pramef20'
ID557859
Institutional Source Beutler Lab
Gene Symbol Pramef20
Ensembl Gene ENSMUSG00000073721
Gene NamePRAME family member 20
SynonymsGm13125, EG627009
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7165 (G1)
Quality Score225.009
Status Validated
Chromosome4
Chromosomal Location144372760-144377933 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 144372819 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 459 (C459R)
Ref Sequence ENSEMBL: ENSMUSP00000112488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121109]
Predicted Effect probably damaging
Transcript: ENSMUST00000121109
AA Change: C459R

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112488
Gene: ENSMUSG00000073721
AA Change: C459R

DomainStartEndE-ValueType
SCOP:d1a4ya_ 222 409 1e-11 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (79/81)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl C A 2: 128,123,108 A624E probably benign Het
Adnp A G 2: 168,182,367 S1003P probably benign Het
Akap8l T C 17: 32,338,412 D75G probably damaging Het
Ap4e1 A T 2: 127,063,318 T970S possibly damaging Het
Asb3 T A 11: 31,029,029 N106K probably damaging Het
Atp1a3 T C 7: 24,978,965 I988V probably benign Het
Camta1 A G 4: 151,084,700 L198S possibly damaging Het
Ccdc77 A G 6: 120,350,232 L84P probably damaging Het
Ccne1 C T 7: 38,099,301 A298T probably damaging Het
Cdc42bpb T A 12: 111,321,517 E532V probably damaging Het
Clasp2 G A 9: 113,786,399 probably null Het
Cntnap5b C A 1: 100,076,162 T289N possibly damaging Het
Dcun1d4 A G 5: 73,491,195 probably null Het
Dnah14 A G 1: 181,704,535 T2296A probably benign Het
Dnaja4 A T 9: 54,709,232 Q173L probably damaging Het
Dync2h1 G A 9: 7,050,479 A3190V probably benign Het
Frrs1 T A 3: 116,878,271 I6N probably benign Het
Fscn1 T C 5: 142,972,046 V477A probably benign Het
Fsip2 G A 2: 82,981,197 G2620E possibly damaging Het
Glp1r C T 17: 30,909,323 A92V probably benign Het
Gm21671 AACT A 5: 25,950,851 probably benign Het
Gm9573 A G 17: 35,621,978 S439P unknown Het
Gpr137b A T 13: 13,367,620 M204K probably damaging Het
Gstm1 A G 3: 108,016,377 V104A probably benign Het
Gtf2e1 A T 16: 37,535,866 N101K probably damaging Het
Igsf9b T C 9: 27,334,240 F1168L probably benign Het
Itpr2 A T 6: 146,294,091 V1629E probably damaging Het
Kat14 A G 2: 144,393,998 T428A probably benign Het
Kif21b T C 1: 136,149,448 Y403H probably damaging Het
Lpcat1 G C 13: 73,514,530 A533P probably benign Het
Lrp2 A T 2: 69,506,573 I1285N probably damaging Het
Mboat1 A T 13: 30,224,415 Y187F probably damaging Het
Mkx T C 18: 7,002,525 N7S probably damaging Het
Mrps27 A T 13: 99,414,799 T357S possibly damaging Het
Naa35 A G 13: 59,586,183 D9G probably benign Het
Ncoa4 T A 14: 32,175,983 N253K probably damaging Het
Neb A G 2: 52,270,306 Y2232H probably damaging Het
Nlk G A 11: 78,590,967 Q223* probably null Het
Npas2 T A 1: 39,292,717 I71N possibly damaging Het
Nup107 T A 10: 117,773,362 Q364L probably damaging Het
Olfr146 T A 9: 39,023,270 probably benign Het
Otof C T 5: 30,375,620 G1593S probably damaging Het
Panx3 G T 9: 37,664,085 H160Q probably damaging Het
Pappa T A 4: 65,261,873 H990Q probably damaging Het
Pax4 G A 6: 28,446,137 P119L probably damaging Het
Pcdhb20 T A 18: 37,505,070 D216E probably damaging Het
Pcdhgb8 T A 18: 37,763,178 S434T possibly damaging Het
Pf4 T C 5: 90,772,589 V3A probably benign Het
Phf24 T C 4: 42,938,325 S229P probably benign Het
Plcd3 A G 11: 103,079,613 F200S probably damaging Het
Ppp1r16a A G 15: 76,690,904 H4R probably damaging Het
Prdm10 A G 9: 31,316,442 probably null Het
Prim2 A G 1: 33,628,393 probably null Het
Prkg1 T A 19: 30,585,199 H550L probably damaging Het
Prrc2c G T 1: 162,673,517 T2809N possibly damaging Het
Ptx3 A G 3: 66,224,970 E304G probably benign Het
Ralgps2 A G 1: 156,828,248 F369L probably benign Het
Rasgrp1 G A 2: 117,338,404 T31I probably benign Het
Rbsn A T 6: 92,191,334 M373K probably benign Het
Rnf168 C G 16: 32,282,361 R120G probably benign Het
Rp1 A G 1: 4,349,917 I324T probably damaging Het
Samd11 T C 4: 156,252,290 S31G probably benign Het
Sart3 A T 5: 113,745,995 L652Q probably benign Het
Scrn2 A G 11: 97,033,808 E421G probably benign Het
Sik2 A T 9: 50,917,097 L215Q probably damaging Het
Stard9 A T 2: 120,704,158 K3632M probably damaging Het
Swt1 A T 1: 151,388,677 D695E probably damaging Het
Tead3 T A 17: 28,333,254 M357L probably benign Het
Tgfbi A T 13: 56,628,016 T292S probably damaging Het
Tmc7 T C 7: 118,555,934 H247R probably benign Het
Trmt10b T A 4: 45,308,549 D236E probably damaging Het
Tshz1 C A 18: 84,015,927 V119L probably damaging Het
Ttn A C 2: 76,827,914 V12374G unknown Het
Tubgcp2 A G 7: 140,005,361 Y484H probably damaging Het
Ubr4 G C 4: 139,450,513 A1947P Het
Uggt1 A C 1: 36,155,107 V1350G probably benign Het
Vmn1r173 A T 7: 23,702,651 M104L probably benign Het
Xirp1 A T 9: 120,019,047 C257S probably damaging Het
Zfyve26 A G 12: 79,280,405 S724P probably damaging Het
Zmpste24 A T 4: 121,082,894 L185Q probably null Het
Zpld1 G A 16: 55,232,231 A340V probably benign Het
Other mutations in Pramef20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01403:Pramef20 APN 4 144377133 missense probably benign 0.01
IGL01516:Pramef20 APN 4 144377767 missense probably damaging 1.00
IGL02655:Pramef20 APN 4 144372846 missense probably benign 0.05
IGL02983:Pramef20 APN 4 144373127 missense probably benign 0.24
R0201:Pramef20 UTSW 4 144377273 splice site probably benign
R1882:Pramef20 UTSW 4 144376915 missense probably benign 0.03
R4440:Pramef20 UTSW 4 144372867 missense probably benign
R4805:Pramef20 UTSW 4 144377020 missense probably benign 0.08
R4823:Pramef20 UTSW 4 144373211 missense possibly damaging 0.81
R4925:Pramef20 UTSW 4 144377932 start codon destroyed probably null 1.00
R5024:Pramef20 UTSW 4 144373308 nonsense probably null
R5472:Pramef20 UTSW 4 144377157 missense probably benign 0.00
R6133:Pramef20 UTSW 4 144377777 missense possibly damaging 0.81
R6495:Pramef20 UTSW 4 144376839 missense probably benign 0.43
R6585:Pramef20 UTSW 4 144377030 missense possibly damaging 0.87
R6732:Pramef20 UTSW 4 144373173 missense probably benign 0.20
R7048:Pramef20 UTSW 4 144377184 missense probably benign 0.15
R7469:Pramef20 UTSW 4 144373103 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAGTGGCTGTTCACAGAAC -3'
(R):5'- GCCAGCTTGATACATCTAAGGC -3'

Sequencing Primer
(F):5'- CCATTATACTTGTCAACATGTCAGC -3'
(R):5'- ATCTAAGGCTGGAGCTATACCCTG -3'
Posted On2019-06-26