Mutagenetix > Incidental Mutation

Incidental Mutation 'R5253:Pelp1'

399248

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

042824-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R5253 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70283709-70300857 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 70292487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 211 (G211C)

Ref Sequence

ENSEMBL: ENSMUSP00000019065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019065] [ENSMUST00000135148]

AlphaFold

Q9DBD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000019065
AA Change: G211C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019065
Gene: ENSMUSG00000018921
AA Change: G211C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000135148

SMART Domains

Protein: ENSMUSP00000134014
Gene: ENSMUSG00000018921

Domain	Start	End	E-Value	Type
low complexity region	2	45	N/A	INTRINSIC
Pfam:RIX1	63	163	2.3e-9	PFAM

Meta Mutation Damage Score

0.6239

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

99% (72/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	T	C	9: 39,962,746 (GRCm39)		noncoding transcript	Het
Actrt2	A	C	4: 154,752,026 (GRCm39)	S37A	possibly damaging	Het
Adcy7	T	C	8: 89,040,742 (GRCm39)	I327T	probably damaging	Het
Ankrd13b	A	G	11: 77,364,061 (GRCm39)		probably benign	Het
Arap1	A	C	7: 101,037,851 (GRCm39)	I237L	probably benign	Het
Arhgap17	A	T	7: 122,902,971 (GRCm39)	Y359N	probably benign	Het
Atad1	A	G	19: 32,651,702 (GRCm39)	M343T	probably benign	Het
Cacna1b	A	T	2: 24,609,964 (GRCm39)	I392N	probably damaging	Het
Cacna1c	A	G	6: 118,574,930 (GRCm39)	S1914P	probably benign	Het
Cd300a	G	T	11: 114,785,577 (GRCm39)	R174L	probably benign	Het
Dip2a	G	A	10: 76,135,831 (GRCm39)	P356L	probably damaging	Het
Dsg1c	T	C	18: 20,405,436 (GRCm39)	L283P	probably damaging	Het
Dusp1	T	C	17: 26,727,191 (GRCm39)	N36S	probably benign	Het
Dync2i2	T	A	2: 29,922,375 (GRCm39)		probably benign	Het
Ercc3	C	A	18: 32,402,917 (GRCm39)	P776Q	probably damaging	Het
Etv1	A	G	12: 38,902,248 (GRCm39)	R260G	possibly damaging	Het
Fa2h	C	G	8: 112,075,869 (GRCm39)	M251I	probably benign	Het
Fcsk	T	C	8: 111,610,499 (GRCm39)	E968G	possibly damaging	Het
Flg2	A	G	3: 93,108,119 (GRCm39)	D49G	probably damaging	Het
Fras1	A	G	5: 96,888,884 (GRCm39)	E2810G	probably damaging	Het
Gabbr1	T	C	17: 37,366,805 (GRCm39)	F343S	possibly damaging	Het
Gdf2	A	G	14: 33,667,264 (GRCm39)	T329A	probably benign	Het
Hcn4	T	A	9: 58,731,558 (GRCm39)	I255N	unknown	Het
Hk3	T	G	13: 55,158,824 (GRCm39)	D485A	probably damaging	Het
Hook3	T	C	8: 26,562,319 (GRCm39)	T249A	probably benign	Het
Kcp	C	T	6: 29,498,519 (GRCm39)		probably benign	Het
Kifc2	G	T	15: 76,550,481 (GRCm39)	R515L	possibly damaging	Het
Kiss1r	A	G	10: 79,756,584 (GRCm39)	Y142C	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Klrb1a	T	A	6: 128,596,126 (GRCm39)	I72L	probably benign	Het
Lep	T	A	6: 29,070,862 (GRCm39)	F62Y	probably damaging	Het
Lrtm1	A	G	14: 28,743,801 (GRCm39)	T90A	probably benign	Het
Mug1	A	T	6: 121,865,872 (GRCm39)	D1472V	probably benign	Het
Ncor2	G	T	5: 125,103,994 (GRCm39)	P1988Q	probably benign	Het
Nlrp4a	C	T	7: 26,149,917 (GRCm39)	S508L	probably benign	Het
Obp2b	T	A	2: 25,627,155 (GRCm39)	D29E	probably benign	Het
Or10ag2	G	A	2: 87,249,012 (GRCm39)	V207M	possibly damaging	Het
Or4c109	A	G	2: 88,818,444 (GRCm39)	L34P	possibly damaging	Het
Or4c119	A	T	2: 88,986,801 (GRCm39)	C239*	probably null	Het
Or4k15b	T	C	14: 50,272,745 (GRCm39)	I38M	possibly damaging	Het
Or6c3b	A	G	10: 129,527,601 (GRCm39)	I103T	probably damaging	Het
Otof	A	G	5: 30,527,483 (GRCm39)	S1985P	probably damaging	Het
Oxct2a	A	T	4: 123,216,886 (GRCm39)	V165E	probably damaging	Het
Pcdhgb7	T	C	18: 37,886,150 (GRCm39)	V440A	possibly damaging	Het
Phox2a	A	G	7: 101,471,312 (GRCm39)	H268R	probably benign	Het
Pik3c2g	T	C	6: 139,841,983 (GRCm39)		probably null	Het
Pramel1	T	A	4: 143,125,156 (GRCm39)	M360K	probably benign	Het
Rbm6	C	T	9: 107,729,856 (GRCm39)	R132K	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc45a1	T	C	4: 150,722,727 (GRCm39)	T386A	probably damaging	Het
Smad2	A	G	18: 76,421,124 (GRCm39)	Y151C	probably damaging	Het
Sptbn2	G	A	19: 4,800,110 (GRCm39)	G2188D	probably benign	Het
Sugt1	G	A	14: 79,840,341 (GRCm39)		probably null	Het
Tctn3	T	C	19: 40,595,685 (GRCm39)	S367G	probably benign	Het
Tead1	G	T	7: 112,460,752 (GRCm39)	D219Y	probably damaging	Het
Tenm2	G	T	11: 35,938,028 (GRCm39)	Y1548*	probably null	Het
Tenm3	T	A	8: 48,682,233 (GRCm39)	I2466F	possibly damaging	Het
Tent4b	C	A	8: 88,926,651 (GRCm39)	H20Q	possibly damaging	Het
Tgm2	G	A	2: 157,971,358 (GRCm39)	P294S	probably damaging	Het
Tns2	T	C	15: 102,019,888 (GRCm39)	S585P	probably damaging	Het
Ttc41	A	G	10: 86,566,806 (GRCm39)	K491E	probably benign	Het
Ttn	G	A	2: 76,621,895 (GRCm39)	T15549I	probably damaging	Het
Vmn1r157	T	C	7: 22,461,183 (GRCm39)	L21P	probably damaging	Het
Vmn2r81	A	G	10: 79,083,820 (GRCm39)	M65V	probably benign	Het
Zcchc14	T	C	8: 122,345,433 (GRCm39)		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
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
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'- AGCCCTCTTCATCTTGAGTAGG -3'
(R):5'- CCAGAGGTGAGACTTTGCAG -3'

Sequencing Primer
(F):5'- GTCAATATCTTCACTGTGAGG -3'
(R):5'- AAATGTTATGGGAACTGCTTAGGG -3'

Posted On

2016-07-06