Incidental Mutation 'R7935:Pramel42'
ID 648670
Institutional Source Beutler Lab
Gene Symbol Pramel42
Ensembl Gene ENSMUSG00000095074
Gene Name PRAME like 42
Synonyms Gm3139
MMRRC Submission 045981-MU
Accession Numbers
Essential gene? Not available question?
Stock # R7935 (G1)
Quality Score 90.0077
Status Not validated
Chromosome 5
Chromosomal Location 94674143-94686226 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 94685440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 367 (D367Y)
Ref Sequence ENSEMBL: ENSMUSP00000144005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178330] [ENSMUST00000201138] [ENSMUST00000202642]
AlphaFold J3QK78
Predicted Effect probably damaging
Transcript: ENSMUST00000178330
AA Change: D367Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137485
Gene: ENSMUSG00000095074
AA Change: D367Y

DomainStartEndE-ValueType
SCOP:d1a4ya_ 273 402 3e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201138
Predicted Effect probably damaging
Transcript: ENSMUST00000202642
AA Change: D367Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144005
Gene: ENSMUSG00000095074
AA Change: D367Y

DomainStartEndE-ValueType
SCOP:d1a4ya_ 273 402 3e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A G 9: 4,308,732 (GRCm39) V124A probably benign Het
Abca4 A G 3: 121,904,186 (GRCm39) M746V possibly damaging Het
Aldh18a1 G T 19: 40,562,226 (GRCm39) S266* probably null Het
Aldh1b1 C A 4: 45,802,968 (GRCm39) H169N probably benign Het
Anpep A G 7: 79,476,709 (GRCm39) I756T possibly damaging Het
Asb16 A T 11: 102,168,739 (GRCm39) E405V probably benign Het
B4galnt1 T A 10: 127,007,490 (GRCm39) F464I probably damaging Het
Bpifb5 A G 2: 154,070,975 (GRCm39) I225V probably benign Het
Brox T C 1: 183,062,484 (GRCm39) E290G probably damaging Het
Cacna1s T A 1: 136,020,333 (GRCm39) V790D possibly damaging Het
Cacng6 G T 7: 3,473,384 (GRCm39) K69N possibly damaging Het
Catsperg1 A G 7: 28,895,344 (GRCm39) I503T possibly damaging Het
Cdcp3 A G 7: 130,852,205 (GRCm39) N814D probably damaging Het
Celsr3 A C 9: 108,706,840 (GRCm39) M1108L probably benign Het
Chd2 T C 7: 73,149,373 (GRCm39) N449S probably benign Het
Cpne6 T C 14: 55,750,066 (GRCm39) C66R possibly damaging Het
Ctnna2 T C 6: 76,919,270 (GRCm39) E656G probably damaging Het
Dnah17 A T 11: 118,018,048 (GRCm39) M149K probably benign Het
Dpp8 A T 9: 64,944,262 (GRCm39) M10L possibly damaging Het
Dst T C 1: 34,329,486 (GRCm39) L4838P probably damaging Het
Eif4g3 T A 4: 137,824,082 (GRCm39) I55N probably damaging Het
Gm10750 A G 2: 148,858,017 (GRCm39) L78P unknown Het
Gulo T G 14: 66,237,288 (GRCm39) K200Q probably benign Het
Jmjd8 T A 17: 26,048,071 (GRCm39) L56Q probably benign Het
Kansl1 G T 11: 104,315,112 (GRCm39) Q309K probably damaging Het
Kcns3 A C 12: 11,141,718 (GRCm39) L327R probably damaging Het
Mapk10 A G 5: 103,139,792 (GRCm39) I153T possibly damaging Het
Muc5b G T 7: 141,400,569 (GRCm39) M513I unknown Het
Nbea A G 3: 55,966,086 (GRCm39) F459L probably damaging Het
Nrcam G A 12: 44,631,644 (GRCm39) V1066I possibly damaging Het
Numa1 A G 7: 101,651,538 (GRCm39) K178E probably damaging Het
Or4b1 C T 2: 89,979,928 (GRCm39) V141M probably benign Het
Or5au1 T C 14: 52,272,645 (GRCm39) K308E probably benign Het
Or5d14 G A 2: 87,880,290 (GRCm39) T226M probably damaging Het
Pabpc4 C T 4: 123,191,837 (GRCm39) A649V probably benign Het
Parp12 C A 6: 39,079,612 (GRCm39) K299N possibly damaging Het
Pcdhga7 A G 18: 37,849,562 (GRCm39) D523G possibly damaging Het
Polr2a T C 11: 69,638,330 (GRCm39) T79A probably benign Het
Ppp1r7 T C 1: 93,273,904 (GRCm39) S27P probably damaging Het
Prol1 T G 5: 88,475,874 (GRCm39) L88R probably damaging Het
Ptpn6 T C 6: 124,709,425 (GRCm39) Q57R possibly damaging Het
Rdh16 A G 10: 127,637,334 (GRCm39) I90V probably benign Het
Rock2 T A 12: 16,998,558 (GRCm39) C275S probably damaging Het
Rp1l1 G T 14: 64,268,674 (GRCm39) R1420L probably damaging Het
Sav1 A G 12: 70,033,481 (GRCm39) Y21H probably damaging Het
Sec24a T C 11: 51,612,749 (GRCm39) N536S probably benign Het
Serpina9 A C 12: 103,964,421 (GRCm39) F339V probably damaging Het
Slc6a13 T G 6: 121,311,450 (GRCm39) L369V possibly damaging Het
Smarcd3 A T 5: 24,801,024 (GRCm39) F128I probably damaging Het
Smok2a A T 17: 13,444,599 (GRCm39) I59F probably damaging Het
Spaca9 A G 2: 28,583,634 (GRCm39) probably null Het
Ssx2ip A T 3: 146,124,928 (GRCm39) E84D probably benign Het
Syt12 A T 19: 4,497,830 (GRCm39) V384E probably benign Het
Ticrr T A 7: 79,331,584 (GRCm39) L727Q probably damaging Het
Tmem170b A G 13: 41,781,463 (GRCm39) Y36C probably damaging Het
Tpd52l1 T C 10: 31,214,201 (GRCm39) T161A probably damaging Het
Zan T A 5: 137,461,841 (GRCm39) T1113S unknown Het
Zfp512b T C 2: 181,231,689 (GRCm39) T164A probably damaging Het
Zfp521 G A 18: 13,977,549 (GRCm39) P955S probably damaging Het
Zfp770 C T 2: 114,027,305 (GRCm39) V255I probably benign Het
Zfp942 A T 17: 22,148,208 (GRCm39) C140* probably null Het
Other mutations in Pramel42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Pramel42 APN 5 94,685,663 (GRCm39) missense probably damaging 1.00
R4446:Pramel42 UTSW 5 94,685,702 (GRCm39) missense probably damaging 0.99
R7189:Pramel42 UTSW 5 94,685,610 (GRCm39) nonsense probably null
R7233:Pramel42 UTSW 5 94,685,524 (GRCm39) missense probably benign 0.01
R8674:Pramel42 UTSW 5 94,685,605 (GRCm39) missense probably damaging 1.00
R8970:Pramel42 UTSW 5 94,685,645 (GRCm39) missense probably benign
R9560:Pramel42 UTSW 5 94,685,640 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- TCACAGACAGACTTGGATTCC -3'
(R):5'- CCATGAGCTCCTGACAAAGTTC -3'

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