Incidental Mutation 'R5267:Pramel29'
ID 401755
Institutional Source Beutler Lab
Gene Symbol Pramel29
Ensembl Gene ENSMUSG00000046262
Gene Name PRAME like 29
Synonyms C87977
MMRRC Submission 042859-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R5267 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 143933332-143939587 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 143939575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105753] [ENSMUST00000105754] [ENSMUST00000105755] [ENSMUST00000105757] [ENSMUST00000146836] [ENSMUST00000147855]
AlphaFold A2A958
Predicted Effect probably benign
Transcript: ENSMUST00000105753
Predicted Effect probably benign
Transcript: ENSMUST00000105754
Predicted Effect probably benign
Transcript: ENSMUST00000105755
SMART Domains Protein: ENSMUSP00000101381
Gene: ENSMUSG00000046262

DomainStartEndE-ValueType
SCOP:d1a4ya_ 52 250 9e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105757
SMART Domains Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262

DomainStartEndE-ValueType
SCOP:d1a4ya_ 222 420 1e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132946
Predicted Effect probably benign
Transcript: ENSMUST00000146836
Predicted Effect probably benign
Transcript: ENSMUST00000147855
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 98% (86/88)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,374,933 (GRCm39) probably benign Het
Adam15 T G 3: 89,257,206 (GRCm39) probably benign Het
Albfm1 T C 5: 90,732,716 (GRCm39) F509S probably damaging Het
Atp12a T C 14: 56,621,668 (GRCm39) S768P probably damaging Het
Atp8a1 G A 5: 67,919,887 (GRCm39) T393I probably damaging Het
B4galnt4 T G 7: 140,650,524 (GRCm39) I3S probably damaging Het
Bfsp1 G A 2: 143,668,971 (GRCm39) T536I probably benign Het
Brsk1 G T 7: 4,707,708 (GRCm39) W284L probably damaging Het
Cadm3 A T 1: 173,164,669 (GRCm39) D370E probably damaging Het
Cadps2 A G 6: 23,626,667 (GRCm39) I207T possibly damaging Het
Calr4 A C 4: 109,101,273 (GRCm39) T52P probably damaging Het
Catsperg2 G A 7: 29,416,491 (GRCm39) T307M probably damaging Het
Ckap5 T A 2: 91,422,097 (GRCm39) N1166K probably null Het
Clca4a G A 3: 144,659,573 (GRCm39) T761I probably damaging Het
Cnksr3 A T 10: 7,076,633 (GRCm39) probably null Het
Diaph3 A G 14: 86,893,989 (GRCm39) S7P probably benign Het
Dnah7a G A 1: 53,518,851 (GRCm39) P2969S probably damaging Het
Dnai2 A T 11: 114,631,293 (GRCm39) T221S probably benign Het
Dsc2 A G 18: 20,167,640 (GRCm39) probably null Het
Eif4g1 A G 16: 20,504,283 (GRCm39) N789S probably damaging Het
Fn1 C T 1: 71,668,863 (GRCm39) R694H probably damaging Het
Gm5478 G A 15: 101,552,837 (GRCm39) R365C probably damaging Het
Gm5591 A T 7: 38,218,338 (GRCm39) M845K possibly damaging Het
Gm5800 A T 14: 51,951,294 (GRCm39) probably null Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
H2-Q2 A T 17: 35,562,155 (GRCm39) Y134F probably benign Het
Hcfc1r1 A G 17: 23,893,648 (GRCm39) R76G possibly damaging Het
Hectd4 T C 5: 121,482,887 (GRCm39) I3146T probably benign Het
Herc1 G T 9: 66,369,091 (GRCm39) L2928F probably damaging Het
Hmx3 C T 7: 131,145,898 (GRCm39) A202V probably benign Het
Ikzf3 A T 11: 98,381,406 (GRCm39) M58K probably benign Het
Il20ra A G 10: 19,625,107 (GRCm39) T129A probably damaging Het
Il21 T C 3: 37,281,946 (GRCm39) H66R probably benign Het
Kcnh5 A T 12: 75,134,190 (GRCm39) M453K probably damaging Het
Kdf1 C G 4: 133,256,258 (GRCm39) A325G probably damaging Het
Klhl10 C T 11: 100,338,047 (GRCm39) A262V probably benign Het
Krt81 T A 15: 101,357,340 (GRCm39) N464I probably benign Het
Ksr1 A T 11: 78,911,251 (GRCm39) I698N probably damaging Het
Lrp2 A G 2: 69,379,322 (GRCm39) V130A possibly damaging Het
Mcm2 T C 6: 88,874,432 (GRCm39) T25A probably benign Het
Mrps18c T A 5: 100,950,960 (GRCm39) Y93* probably null Het
Mycl C T 4: 122,894,289 (GRCm39) A363V probably damaging Het
Mylk2 C A 2: 152,755,469 (GRCm39) A211E probably benign Het
Myo5a G A 9: 75,059,292 (GRCm39) D507N probably damaging Het
Myo7b A G 18: 32,131,787 (GRCm39) F470L probably damaging Het
Oas1a A T 5: 121,037,284 (GRCm39) C248S probably benign Het
Or2ag2b T C 7: 106,418,015 (GRCm39) S242P probably damaging Het
Or4c15b C T 2: 89,112,574 (GRCm39) W301* probably null Het
Or51aa2 T C 7: 103,188,031 (GRCm39) I137V probably benign Het
Or5b116 A G 19: 13,422,475 (GRCm39) Y33C probably damaging Het
Or5m9b T A 2: 85,905,882 (GRCm39) V266E probably benign Het
Or5p67 A G 7: 107,922,185 (GRCm39) S233P probably damaging Het
Or8d1 G A 9: 38,767,101 (GRCm39) V248M probably damaging Het
Otub1 C A 19: 7,177,357 (GRCm39) G67C probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Paqr8 A G 1: 21,004,920 (GRCm39) I25V probably benign Het
Pcdh1 A G 18: 38,325,252 (GRCm39) Y897H probably damaging Het
Pde4d T G 13: 109,397,343 (GRCm39) probably benign Het
Pdzd8 C A 19: 59,289,458 (GRCm39) K647N probably damaging Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Praf2 T C X: 7,596,641 (GRCm39) probably benign Het
Psg25 A T 7: 18,258,711 (GRCm39) Y322N possibly damaging Het
Rxrg A G 1: 167,463,335 (GRCm39) E402G probably damaging Het
Selenok T A 14: 29,692,022 (GRCm39) V20E probably benign Het
Sipa1 G A 19: 5,705,786 (GRCm39) T394I probably benign Het
Spag17 A T 3: 99,969,264 (GRCm39) N1247I probably damaging Het
Spata31d1c A G 13: 65,183,718 (GRCm39) D420G probably damaging Het
Syk A G 13: 52,795,962 (GRCm39) K519R probably benign Het
Syne2 A T 12: 75,985,515 (GRCm39) E1654D possibly damaging Het
Tha1 A C 11: 117,760,502 (GRCm39) S241A probably damaging Het
Thsd7a T A 6: 12,379,601 (GRCm39) E941V probably damaging Het
Tjp1 T C 7: 64,972,797 (GRCm39) T548A probably damaging Het
Tube1 C A 10: 39,020,552 (GRCm39) D210E probably benign Het
Vmn1r183 T A 7: 23,754,971 (GRCm39) I258N possibly damaging Het
Vmn1r89 A T 7: 12,954,140 (GRCm39) N292I probably damaging Het
Vmp1 C A 11: 86,554,377 (GRCm39) V79L probably benign Het
Zfp182 T A X: 20,902,605 (GRCm39) D125V possibly damaging Het
Zfp975 T G 7: 42,311,654 (GRCm39) T320P probably damaging Het
Znrf1 G A 8: 112,263,899 (GRCm39) A43T probably benign Het
Other mutations in Pramel29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Pramel29 APN 4 143,935,045 (GRCm39) missense possibly damaging 0.58
IGL02950:Pramel29 APN 4 143,939,531 (GRCm39) missense probably benign 0.06
IGL03174:Pramel29 APN 4 143,935,000 (GRCm39) missense probably benign
IGL03178:Pramel29 APN 4 143,934,821 (GRCm39) critical splice donor site probably null
PIT4812001:Pramel29 UTSW 4 143,936,086 (GRCm39) missense probably benign
R0622:Pramel29 UTSW 4 143,939,583 (GRCm39) unclassified probably benign
R0634:Pramel29 UTSW 4 143,935,910 (GRCm39) critical splice donor site probably null
R1127:Pramel29 UTSW 4 143,933,694 (GRCm39) missense probably damaging 1.00
R1341:Pramel29 UTSW 4 143,934,129 (GRCm39) missense probably damaging 1.00
R1697:Pramel29 UTSW 4 143,935,162 (GRCm39) missense probably damaging 1.00
R1827:Pramel29 UTSW 4 143,936,180 (GRCm39) missense probably damaging 0.99
R1857:Pramel29 UTSW 4 143,935,091 (GRCm39) missense possibly damaging 0.74
R2859:Pramel29 UTSW 4 143,936,192 (GRCm39) missense probably benign 0.11
R4063:Pramel29 UTSW 4 143,935,265 (GRCm39) missense possibly damaging 0.87
R4114:Pramel29 UTSW 4 143,936,173 (GRCm39) missense probably damaging 1.00
R4130:Pramel29 UTSW 4 143,935,379 (GRCm39) missense probably damaging 0.99
R4255:Pramel29 UTSW 4 143,934,054 (GRCm39) missense possibly damaging 0.68
R4704:Pramel29 UTSW 4 143,935,162 (GRCm39) missense probably damaging 1.00
R4840:Pramel29 UTSW 4 143,935,144 (GRCm39) missense probably damaging 0.98
R5670:Pramel29 UTSW 4 143,936,192 (GRCm39) missense probably benign 0.11
R6149:Pramel29 UTSW 4 143,933,983 (GRCm39) missense probably damaging 0.98
R6508:Pramel29 UTSW 4 143,934,171 (GRCm39) nonsense probably null
R6528:Pramel29 UTSW 4 143,935,381 (GRCm39) missense probably damaging 0.99
R7252:Pramel29 UTSW 4 143,939,510 (GRCm39) missense possibly damaging 0.95
R7564:Pramel29 UTSW 4 143,939,525 (GRCm39) missense probably damaging 1.00
R7704:Pramel29 UTSW 4 143,935,091 (GRCm39) missense possibly damaging 0.74
R8737:Pramel29 UTSW 4 143,935,192 (GRCm39) missense probably damaging 1.00
R9703:Pramel29 UTSW 4 143,939,510 (GRCm39) missense probably damaging 0.97
Z1176:Pramel29 UTSW 4 143,934,031 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TATCTAGGATTGAGGTCAAGCAATC -3'
(R):5'- TACAGATCTGGTCCAATTTACCTACAC -3'

Sequencing Primer
(F):5'- AATCTTGCCTAGAAATAACTGATCTC -3'
(R):5'- ACTTTAACTGGGAGGGTG -3'
Posted On 2016-07-06