Incidental Mutation 'R0201:Pelp1'
ID 23656
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 038458-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R0201 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 70283709-70300857 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70286530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 533 (T533A)
Ref Sequence ENSEMBL: ENSMUSP00000019065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019065]
AlphaFold Q9DBD5
Predicted Effect possibly damaging
Transcript: ENSMUST00000019065
AA Change: T533A

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000019065
Gene: ENSMUSG00000018921
AA Change: T533A

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
Meta Mutation Damage Score 0.0732 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.2%
Validation Efficiency 97% (91/94)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 A G 14: 68,819,406 (GRCm39) probably null Het
Adamts16 T A 13: 70,927,763 (GRCm39) Q492L possibly damaging Het
Aplnr A G 2: 84,967,521 (GRCm39) D182G probably damaging Het
Arnt2 G T 7: 84,010,867 (GRCm39) S3* probably null Het
Asxl3 T C 18: 22,656,211 (GRCm39) V1407A probably benign Het
Atg13 A T 2: 91,515,107 (GRCm39) probably null Het
Atm A T 9: 53,365,579 (GRCm39) probably benign Het
Birc6 T G 17: 74,916,322 (GRCm39) V1746G possibly damaging Het
Cbln1 G T 8: 88,198,741 (GRCm39) T43K probably benign Het
Cbx5 T C 15: 103,108,127 (GRCm39) T173A probably damaging Het
Cc2d2a A G 5: 43,894,854 (GRCm39) Y1437C probably damaging Het
Ccdc78 C A 17: 26,008,210 (GRCm39) probably benign Het
Cd2bp2 A G 7: 126,793,000 (GRCm39) Y341H probably damaging Het
Cdhr5 T A 7: 140,856,291 (GRCm39) D88V probably damaging Het
Ces1f T A 8: 93,993,957 (GRCm39) T275S probably null Het
Cimip4 T A 15: 78,263,028 (GRCm39) M209L probably damaging Het
Clca4a T C 3: 144,666,478 (GRCm39) N458S probably benign Het
Cog5 A G 12: 31,889,840 (GRCm39) K521R probably damaging Het
Csf2ra T A 19: 61,214,006 (GRCm39) T305S probably benign Het
Csmd3 T A 15: 47,483,125 (GRCm39) probably benign Het
Cts6 T A 13: 61,349,313 (GRCm39) R132* probably null Het
D5Ertd579e G T 5: 36,773,809 (GRCm39) N195K probably damaging Het
Ddx1 A G 12: 13,273,809 (GRCm39) V606A probably damaging Het
Dip2b G A 15: 100,084,028 (GRCm39) D884N probably damaging Het
Ehhadh A G 16: 21,592,243 (GRCm39) probably null Het
Enpp1 T A 10: 24,529,815 (GRCm39) T608S probably benign Het
Fancm T C 12: 65,148,406 (GRCm39) Y674H probably damaging Het
Fat4 T A 3: 38,945,745 (GRCm39) V1546D probably damaging Het
Fsd1 G A 17: 56,297,522 (GRCm39) A158T probably benign Het
Fzd2 T A 11: 102,496,948 (GRCm39) M464K probably damaging Het
Gjc2 A G 11: 59,068,416 (GRCm39) F22S possibly damaging Het
Gria2 T C 3: 80,615,145 (GRCm39) Y445C probably damaging Het
Hsdl1 T A 8: 120,292,995 (GRCm39) I147F possibly damaging Het
Ifi44 T C 3: 151,451,273 (GRCm39) Y226C probably damaging Het
Il16 A G 7: 83,371,516 (GRCm39) C97R probably damaging Het
Impg1 A T 9: 80,252,843 (GRCm39) S369T probably damaging Het
Jmjd1c A G 10: 67,054,888 (GRCm39) T390A unknown Het
Lgi1 A G 19: 38,289,741 (GRCm39) E269G possibly damaging Het
Lrp6 G T 6: 134,427,860 (GRCm39) Y1577* probably null Het
Lrrc74a G T 12: 86,808,547 (GRCm39) probably benign Het
Man1c1 A T 4: 134,367,709 (GRCm39) probably null Het
Map1lc3b A C 8: 122,317,289 (GRCm39) Q9P possibly damaging Het
Mboat1 G A 13: 30,386,358 (GRCm39) R124H probably benign Het
Mcu A G 10: 59,292,499 (GRCm39) L60P probably damaging Het
Mrs2 G T 13: 25,202,517 (GRCm39) Q75K probably benign Het
Muc2 CGTG CGTGTG 7: 141,699,185 (GRCm38) probably null Het
Neb G A 2: 52,096,890 (GRCm39) probably benign Het
Nlrp2 C T 7: 5,331,328 (GRCm39) G356D probably benign Het
Notch3 A G 17: 32,375,122 (GRCm39) probably benign Het
Npr2 A C 4: 43,641,617 (GRCm39) S474R probably damaging Het
Nup58 A G 14: 60,482,065 (GRCm39) F100L probably benign Het
Osbpl6 A C 2: 76,376,386 (GRCm39) D87A possibly damaging Het
Pabpc2 A T 18: 39,908,360 (GRCm39) M542L probably benign Het
Papln A G 12: 83,829,801 (GRCm39) probably benign Het
Parpbp T C 10: 87,928,758 (GRCm39) I561V possibly damaging Het
Pcdhb13 C T 18: 37,575,634 (GRCm39) A4V probably benign Het
Poldip3 T A 15: 83,019,497 (GRCm39) M182L probably benign Het
Por T C 5: 135,760,032 (GRCm39) S240P possibly damaging Het
Pramel15 A T 4: 144,103,843 (GRCm39) probably benign Het
Pramel28 T C 4: 143,691,460 (GRCm39) E421G probably damaging Het
Prss22 A T 17: 24,215,275 (GRCm39) V167D probably damaging Het
Prss37 A C 6: 40,493,283 (GRCm39) L61R probably damaging Het
Psmd1 C T 1: 86,046,338 (GRCm39) T702M probably benign Het
Pxdn G T 12: 30,052,430 (GRCm39) G869V possibly damaging Het
Rabgap1l A G 1: 160,281,315 (GRCm39) probably benign Het
Rapgef6 T C 11: 54,510,767 (GRCm39) V228A probably damaging Het
Rnf169 T C 7: 99,575,210 (GRCm39) R462G possibly damaging Het
Rnft2 A G 5: 118,332,745 (GRCm39) probably benign Het
Sgo2b T C 8: 64,379,670 (GRCm39) D1054G probably benign Het
Sh3bgr T C 16: 96,029,717 (GRCm39) probably benign Het
Slc12a4 A G 8: 106,671,982 (GRCm39) V910A possibly damaging Het
Slc6a12 A T 6: 121,332,331 (GRCm39) I222F probably benign Het
Spty2d1 G A 7: 46,647,649 (GRCm39) R427* probably null Het
Ssc5d A G 7: 4,947,662 (GRCm39) T1339A probably benign Het
Sspo A C 6: 48,432,686 (GRCm39) E854A possibly damaging Het
Stx7 A G 10: 24,060,977 (GRCm39) probably benign Het
Styk1 A T 6: 131,278,693 (GRCm39) probably benign Het
Tmem163 T G 1: 127,596,374 (GRCm39) probably benign Het
Tmppe C CT 9: 114,233,707 (GRCm39) probably null Het
Tmx2 A G 2: 84,503,426 (GRCm39) V229A probably benign Het
Top2b T C 14: 16,383,174 (GRCm38) L54P probably damaging Het
Trim62 A T 4: 128,796,343 (GRCm39) Y280F probably benign Het
Tssk4 A T 14: 55,889,016 (GRCm39) K181* probably null Het
Tssk4 A T 14: 55,889,017 (GRCm39) K181M probably damaging Het
Ubn1 A G 16: 4,882,478 (GRCm39) D313G probably damaging Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Ugt1a10 C T 1: 88,145,971 (GRCm39) P473L 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
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
R6461:Pelp1 UTSW 11 70,287,132 (GRCm39) missense probably damaging 1.00
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'- TTCAAAGCCAGTGCCTCGTTCC -3'
(R):5'- GATGCCGTGATGTTAGGTGACTCTC -3'

Sequencing Primer
(F):5'- CGTTCCCAGCTTTCAGTGG -3'
(R):5'- CTCATTGTCCAAGGTGAGGC -3'
Posted On 2013-04-16