Incidental Mutation 'R8307:Pln'
ID 641140
Institutional Source Beutler Lab
Gene Symbol Pln
Ensembl Gene ENSMUSG00000038583
Gene Name phospholamban
Synonyms PLB
MMRRC Submission 067717-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8307 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 53213782-53222095 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53219975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 6 (Y6H)
Ref Sequence ENSEMBL: ENSMUSP00000045709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046221] [ENSMUST00000095691] [ENSMUST00000163319]
AlphaFold P61014
PDB Structure Crystal Structure of phospholamban (1-19):PKA C-subunit:AMP-PNP:Mg2+ complex [X-RAY DIFFRACTION]
Predicted Effect unknown
Transcript: ENSMUST00000046221
AA Change: Y6H
SMART Domains Protein: ENSMUSP00000045709
Gene: ENSMUSG00000038583
AA Change: Y6H

DomainStartEndE-ValueType
Pfam:Phospholamban 1 52 2.7e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095691
SMART Domains Protein: ENSMUSP00000093356
Gene: ENSMUSG00000038594

DomainStartEndE-ValueType
coiled coil region 442 578 N/A INTRINSIC
coiled coil region 600 645 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000163319
AA Change: Y6H
SMART Domains Protein: ENSMUSP00000132743
Gene: ENSMUSG00000038583
AA Change: Y6H

DomainStartEndE-ValueType
Pfam:Phospholamban 1 52 2.7e-41 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (56/56)
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit enhanced myocardial function without altered heart rate, but do not respond to the beta-agonist isoproterenol. Mutants are overtly normal and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik C A 4: 148,025,837 (GRCm39) T119K probably benign Het
Abca13 T A 11: 9,227,922 (GRCm39) L655* probably null Het
Aifm2 A G 10: 61,562,171 (GRCm39) Y69C probably damaging Het
Atp2c1 C T 9: 105,320,030 (GRCm39) V448I probably benign Het
Barx2 A G 9: 31,770,307 (GRCm39) S74P probably damaging Het
Bod1l T C 5: 41,978,498 (GRCm39) K939E probably damaging Het
Cdh12 C A 15: 21,358,949 (GRCm39) F124L probably benign Het
Cdh12 T A 15: 21,358,950 (GRCm39) Y125N probably damaging Het
Cdx2 A G 5: 147,243,477 (GRCm39) Y106H possibly damaging Het
Chmp1a C T 8: 123,932,980 (GRCm39) G158S probably damaging Het
Cilp G A 9: 65,186,286 (GRCm39) G794S probably damaging Het
Cntnap1 A T 11: 101,079,702 (GRCm39) Y1277F possibly damaging Het
Csde1 A G 3: 102,946,389 (GRCm39) probably benign Het
Dennd4c A C 4: 86,744,109 (GRCm39) D1317A probably benign Het
Dgcr2 C T 16: 17,676,242 (GRCm39) G176D probably benign Het
Dock2 A T 11: 34,260,362 (GRCm39) M993K possibly damaging Het
Dpy19l1 G A 9: 24,414,297 (GRCm39) P44S probably benign Het
Dsg2 C T 18: 20,708,121 (GRCm39) P74L probably benign Het
Epg5 T A 18: 78,065,894 (GRCm39) F2078Y probably damaging Het
Fancl A G 11: 26,349,642 (GRCm39) probably benign Het
Fbn1 C A 2: 125,347,402 (GRCm39) R41L possibly damaging Het
Gemin5 G A 11: 58,042,420 (GRCm39) T467M probably damaging Het
Hexb T C 13: 97,330,707 (GRCm39) Q102R probably benign Het
Hmcn2 A G 2: 31,286,127 (GRCm39) D2093G probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Igkv1-131 A G 6: 67,743,051 (GRCm39) Y111H probably damaging Het
Il6st G T 13: 112,624,281 (GRCm39) G177V probably benign Het
Kank4 G A 4: 98,666,915 (GRCm39) Q511* probably null Het
Krt90 A G 15: 101,467,634 (GRCm39) L248P probably damaging Het
Krtap5-2 A G 7: 141,728,586 (GRCm39) C187R unknown Het
Lonp1 C A 17: 56,933,573 (GRCm39) A101S probably benign Het
Nckap5l A G 15: 99,321,058 (GRCm39) C1241R probably damaging Het
Or1j11 A G 2: 36,312,333 (GRCm39) T308A probably benign Het
Or4c11c G A 2: 88,661,633 (GRCm39) M57I possibly damaging Het
Or6c203 T C 10: 129,010,101 (GRCm39) D263G probably benign Het
Pcdh15 T A 10: 74,342,307 (GRCm39) C1131* probably null Het
Pcdhgc3 A G 18: 37,940,847 (GRCm39) D416G probably damaging Het
Pikfyve T C 1: 65,284,894 (GRCm39) M786T possibly damaging Het
Pink1 A T 4: 138,045,273 (GRCm39) M297K probably benign Het
Ppp2r2c A G 5: 37,104,430 (GRCm39) D270G probably damaging Het
Pramel58 T G 5: 94,831,416 (GRCm39) L141R probably damaging Het
Prcd A T 11: 116,550,199 (GRCm39) T76S possibly damaging Het
Pxylp1 A G 9: 96,721,137 (GRCm39) probably null Het
Rab11fip4 A T 11: 79,581,600 (GRCm39) N532Y possibly damaging Het
Ralgapa1 C A 12: 55,788,308 (GRCm39) V592L probably damaging Het
Robo2 T C 16: 73,753,498 (GRCm39) D793G probably damaging Het
Sec14l1 G A 11: 117,034,242 (GRCm39) probably null Het
Srcap T A 7: 127,124,541 (GRCm39) V237E probably damaging Het
Srl A G 16: 4,315,009 (GRCm39) I211T probably benign Het
Tasor G T 14: 27,193,622 (GRCm39) A941S probably damaging Het
Tet3 A G 6: 83,356,909 (GRCm39) V883A probably damaging Het
Trim46 A G 3: 89,151,223 (GRCm39) Y113H probably benign Het
Trim58 G A 11: 58,537,909 (GRCm39) A267T probably benign Het
Tsks G A 7: 44,607,086 (GRCm39) G140S Het
Vmn2r110 C A 17: 20,803,319 (GRCm39) V419L probably benign Het
Vmn2r66 A G 7: 84,656,270 (GRCm39) F249L probably benign Het
Vps8 A C 16: 21,314,652 (GRCm39) D584A probably benign Het
Zfp605 T A 5: 110,276,063 (GRCm39) C394S probably damaging Het
Zscan4e A G 7: 11,041,059 (GRCm39) I271T probably benign Het
Other mutations in Pln
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6663:Pln UTSW 10 53,219,792 (GRCm39) intron probably benign
R7233:Pln UTSW 10 53,220,008 (GRCm39) missense probably damaging 0.99
R7761:Pln UTSW 10 53,220,005 (GRCm39) missense probably damaging 0.99
R8060:Pln UTSW 10 53,219,993 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCAGAGAACGGGTTTAGGTATG -3'
(R):5'- CCCTCACAAAGCTGTTCTCAG -3'

Sequencing Primer
(F):5'- AGACAGCTCACATTTGGC -3'
(R):5'- ACGGAGTGCTCGGCTTTAAG -3'
Posted On 2020-07-28