Incidental Mutation 'R6461:Pelp1'
ID 517608
Institutional Source Beutler Lab
Gene Symbol Pelp1
Ensembl Gene ENSMUSG00000018921
Gene Name proline, glutamic acid and leucine rich protein 1
Synonyms 4930563C04Rik, MNAR
MMRRC Submission 044390-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R6461 (G1)
Quality Score 207.009
Status Not validated
Chromosome 11
Chromosomal Location 70283709-70300857 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70287132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 522 (V522E)
Ref Sequence ENSEMBL: ENSMUSP00000019065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019065]
AlphaFold Q9DBD5
Predicted Effect probably damaging
Transcript: ENSMUST00000019065
AA Change: V522E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019065
Gene: ENSMUSG00000018921
AA Change: V522E

DomainStartEndE-ValueType
low complexity region 2 45 N/A INTRINSIC
Pfam:RIX1 63 232 7.5e-30 PFAM
low complexity region 264 278 N/A INTRINSIC
low complexity region 359 386 N/A INTRINSIC
Pfam:NUC202 424 490 8.6e-30 PFAM
Pfam:NUC202 570 644 6e-19 PFAM
low complexity region 748 758 N/A INTRINSIC
low complexity region 797 830 N/A INTRINSIC
low complexity region 834 863 N/A INTRINSIC
low complexity region 869 877 N/A INTRINSIC
SCOP:d1sig__ 892 958 9e-6 SMART
low complexity region 974 989 N/A INTRINSIC
low complexity region 993 1021 N/A INTRINSIC
low complexity region 1070 1090 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor which coactivates transcription of estrogen receptor responsive genes and corepresses genes activated by other hormone receptors or sequence-specific transcription factors. Expression of this gene is regulated by both members of the estrogen receptor family. This gene may be involved in the progression of several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 T A 10: 85,476,428 (GRCm39) I903N probably damaging Het
Atp12a C T 14: 56,610,695 (GRCm39) R280C probably damaging Het
Dnmbp A G 19: 43,855,964 (GRCm39) probably null Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fbxo40 T C 16: 36,790,390 (GRCm39) E240G probably benign Het
Gne T C 4: 44,060,078 (GRCm39) D105G probably damaging Het
Grin2c A T 11: 115,146,522 (GRCm39) M494K possibly damaging Het
Hnrnpk A G 13: 58,541,008 (GRCm39) probably null Het
Irf6 G C 1: 192,849,779 (GRCm39) G234R probably damaging Het
Lman2 A G 13: 55,494,728 (GRCm39) F347L probably damaging Het
Mcfd2 G A 17: 87,565,494 (GRCm39) T3I probably benign Het
Mon1b A G 8: 114,365,170 (GRCm39) D166G probably damaging Het
Mup10 T A 4: 60,538,078 (GRCm39) M4L unknown Het
Or13c7b T C 4: 43,821,355 (GRCm39) E2G probably benign Het
Or2h1b C T 17: 37,462,362 (GRCm39) C167Y probably damaging Het
Or51s1 T A 7: 102,558,235 (GRCm39) R270S possibly damaging Het
Papln A G 12: 83,828,587 (GRCm39) probably null Het
Scn1a T C 2: 66,156,466 (GRCm39) D481G probably null Het
Scube1 G A 15: 83,496,628 (GRCm39) T791I probably damaging Het
Sec24a T C 11: 51,604,373 (GRCm39) I748V possibly damaging Het
Slc29a2 A G 19: 5,077,768 (GRCm39) T236A probably benign Het
Smarca4 T A 9: 21,590,316 (GRCm39) I1152N probably damaging Het
Syngap1 A G 17: 27,183,822 (GRCm39) I1026V probably damaging Het
Tnxb G T 17: 34,890,872 (GRCm39) R405L probably damaging Het
Zbtb11 G A 16: 55,827,234 (GRCm39) R900H probably damaging Het
Zfp142 T C 1: 74,606,344 (GRCm39) K1639R probably damaging Het
Other mutations in Pelp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Pelp1 APN 11 70,285,638 (GRCm39) missense possibly damaging 0.88
IGL00819:Pelp1 APN 11 70,285,444 (GRCm39) missense unknown
IGL01017:Pelp1 APN 11 70,287,720 (GRCm39) missense probably damaging 1.00
IGL01347:Pelp1 APN 11 70,286,505 (GRCm39) missense probably damaging 1.00
IGL01460:Pelp1 APN 11 70,284,790 (GRCm39) missense unknown
IGL02022:Pelp1 APN 11 70,297,153 (GRCm39) splice site probably benign
IGL02188:Pelp1 APN 11 70,300,718 (GRCm39) missense unknown
ANU74:Pelp1 UTSW 11 70,285,913 (GRCm39) missense probably damaging 0.97
F5770:Pelp1 UTSW 11 70,288,976 (GRCm39) missense probably damaging 0.99
R0056:Pelp1 UTSW 11 70,284,658 (GRCm39) missense unknown
R0201:Pelp1 UTSW 11 70,286,530 (GRCm39) missense possibly damaging 0.84
R0637:Pelp1 UTSW 11 70,286,530 (GRCm39) missense possibly damaging 0.84
R0879:Pelp1 UTSW 11 70,286,123 (GRCm39) splice site probably benign
R1073:Pelp1 UTSW 11 70,287,416 (GRCm39) missense probably damaging 1.00
R1858:Pelp1 UTSW 11 70,285,568 (GRCm39) missense probably damaging 0.99
R1937:Pelp1 UTSW 11 70,284,541 (GRCm39) splice site probably null
R1958:Pelp1 UTSW 11 70,289,347 (GRCm39) missense probably damaging 0.99
R3613:Pelp1 UTSW 11 70,286,261 (GRCm39) missense probably benign 0.01
R3722:Pelp1 UTSW 11 70,289,026 (GRCm39) missense possibly damaging 0.62
R4176:Pelp1 UTSW 11 70,287,693 (GRCm39) missense probably damaging 1.00
R5137:Pelp1 UTSW 11 70,285,925 (GRCm39) missense probably damaging 0.98
R5253:Pelp1 UTSW 11 70,292,487 (GRCm39) missense probably damaging 1.00
R5616:Pelp1 UTSW 11 70,285,688 (GRCm39) missense possibly damaging 0.73
R5911:Pelp1 UTSW 11 70,287,740 (GRCm39) missense probably damaging 0.99
R5938:Pelp1 UTSW 11 70,285,693 (GRCm39) missense probably damaging 0.98
R7387:Pelp1 UTSW 11 70,287,425 (GRCm39) missense probably damaging 0.99
R7625:Pelp1 UTSW 11 70,286,260 (GRCm39) missense probably benign 0.03
R7694:Pelp1 UTSW 11 70,285,585 (GRCm39) missense probably damaging 0.99
R7873:Pelp1 UTSW 11 70,285,552 (GRCm39) missense probably damaging 1.00
R8478:Pelp1 UTSW 11 70,285,146 (GRCm39) missense unknown
R8719:Pelp1 UTSW 11 70,292,789 (GRCm39) missense probably damaging 0.97
R8910:Pelp1 UTSW 11 70,287,461 (GRCm39) missense probably damaging 0.96
R8918:Pelp1 UTSW 11 70,296,505 (GRCm39) missense probably damaging 0.98
R9632:Pelp1 UTSW 11 70,284,835 (GRCm39) missense unknown
V7580:Pelp1 UTSW 11 70,288,976 (GRCm39) missense probably damaging 0.99
V7581:Pelp1 UTSW 11 70,288,976 (GRCm39) missense probably damaging 0.99
V7582:Pelp1 UTSW 11 70,288,976 (GRCm39) missense probably damaging 0.99
V7583:Pelp1 UTSW 11 70,288,976 (GRCm39) missense probably damaging 0.99
Z1088:Pelp1 UTSW 11 70,287,716 (GRCm39) missense probably damaging 1.00
Z1177:Pelp1 UTSW 11 70,287,920 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCCACAAGTGCTCATACTGTCC -3'
(R):5'- TGCCTGTACATGTGACTGTG -3'

Sequencing Primer
(F):5'- CAGCGCATATGTAAAGTGCTTGAC -3'
(R):5'- GTGACTGTGTTTCCTTTTACCACAAG -3'
Posted On 2018-05-21