Mutagenetix > Incidental Mutation

Incidental Mutation 'R3613:Pelp1'

269290

Institutional Source

Beutler Lab

Gene Symbol

Pelp1

Ensembl Gene

ENSMUSG00000018921

Gene Name

proline, glutamic acid and leucine rich protein 1

Synonyms

4930563C04Rik, MNAR

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R3613 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70283709-70300857 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70286261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 572 (N572S)

Ref Sequence

ENSEMBL: ENSMUSP00000019065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019065]

AlphaFold

Q9DBD5

Predicted Effect

probably benign
Transcript: ENSMUST00000019065
AA Change: N572S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000019065
Gene: ENSMUSG00000018921
AA Change: N572S

Domain	Start	End	E-Value	Type
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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	C	T	14: 118,864,863 (GRCm39)		probably null	Het
Ccdc110	T	A	8: 46,395,843 (GRCm39)	M578K	possibly damaging	Het
Ctsh	A	C	9: 89,957,763 (GRCm39)	M281L	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Hinfp	T	C	9: 44,209,041 (GRCm39)	H359R	probably damaging	Het
Hps5	A	G	7: 46,426,298 (GRCm39)		probably null	Het
Lsamp	T	C	16: 41,775,686 (GRCm39)	V179A	probably benign	Het
Nr1i3	T	A	1: 171,042,564 (GRCm39)	C63*	probably null	Het
Or6c5c	A	T	10: 129,298,937 (GRCm39)	T131S	probably benign	Het
Pdk2	T	C	11: 94,918,072 (GRCm39)	E387G	probably benign	Het
Rdh16f2	A	T	10: 127,710,808 (GRCm39)	I142F	probably benign	Het
Sdk1	A	T	5: 142,105,441 (GRCm39)	H1515L	probably damaging	Het
Sema5b	C	T	16: 35,480,520 (GRCm39)	T729I	probably benign	Het
Tgfbi	G	A	13: 56,773,539 (GRCm39)	R179Q	probably damaging	Het
Vmn1r27	A	T	6: 58,192,787 (GRCm39)	N72K	probably damaging	Het
Vps13a	G	A	19: 16,662,766 (GRCm39)	T1573M	probably damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het

Other mutations in Pelp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TGTCAGGAACACAGGGTCTC -3'
(R):5'- GCCACTGTTCTGTGCATTG -3'

Sequencing Primer
(F):5'- GGGTCTCACGAAGCAAGCATC -3'
(R):5'- TGGGAGTGTTTACCCCAAAG -3'

Posted On

2015-02-19