Mutagenetix > Incidental Mutation

Incidental Mutation 'F5770:Pelp1'

178007

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: 0.959) question?

Stock #

F5770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70283709-70300857 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70288976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 257 (T257S)

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: T257S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019065
Gene: ENSMUSG00000018921
AA Change: T257S

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

0.0630

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (96/97)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,595,050 (GRCm39)	H102L	possibly damaging	Het
Abcb5	T	A	12: 118,849,914 (GRCm39)	M950L	probably benign	Het
Ahcy	G	A	2: 154,906,841 (GRCm39)	R151*	probably null	Het
Arhgef38	T	G	3: 132,855,301 (GRCm39)	H262P	probably damaging	Het
Atp6v1h	A	G	1: 5,194,666 (GRCm39)	T282A	possibly damaging	Het
Camk2g	T	C	14: 20,789,380 (GRCm39)		probably benign	Het
Casp8ap2	C	T	4: 32,639,944 (GRCm39)	H333Y	probably benign	Het
Cd36	ACTGTCTGT	ACTGT	5: 18,025,526 (GRCm39)		probably null	Het
Cdc42bpb	C	T	12: 111,262,825 (GRCm39)	G1501S	probably benign	Het
Cfi	T	A	3: 129,648,641 (GRCm39)	I175K	possibly damaging	Het
Clasp1	G	A	1: 118,509,078 (GRCm39)	R1027Q	probably damaging	Het
D630003M21Rik	T	C	2: 158,042,931 (GRCm39)	T870A	probably benign	Het
Dcaf4	C	A	12: 83,584,475 (GRCm39)		probably null	Het
Dnah12	T	A	14: 26,495,050 (GRCm39)	N1369K	possibly damaging	Het
Dnajc22	T	A	15: 98,999,363 (GRCm39)	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,690,775 (GRCm39)	Q295*	probably null	Het
Dync2i1	A	C	12: 116,175,460 (GRCm39)	S906A	possibly damaging	Het
Erv3	T	C	2: 131,697,846 (GRCm39)	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865 (GRCm39)	T249A	probably benign	Het
Fbrsl1	C	T	5: 110,527,292 (GRCm39)	A129T	possibly damaging	Het
Fcgr1	T	C	3: 96,191,592 (GRCm39)	*405W	probably null	Het
Gdap1l1	C	T	2: 163,289,406 (GRCm39)		probably benign	Het
Glrx3	A	G	7: 137,060,882 (GRCm39)	H172R	probably benign	Het
Gm10770	T	A	2: 150,021,404 (GRCm39)	K38*	probably null	Het
Gm20517	G	A	17: 47,929,757 (GRCm39)	V65M	probably damaging	Het
Gm4787	G	A	12: 81,424,341 (GRCm39)	Q606*	probably null	Het
Golga4	A	G	9: 118,385,143 (GRCm39)	E727G	possibly damaging	Het
Got1	T	A	19: 43,489,000 (GRCm39)		probably benign	Het
Heatr5a	A	G	12: 51,928,061 (GRCm39)		probably benign	Het
Hira	G	A	16: 18,713,571 (GRCm39)	A29T	probably damaging	Het
Hnrnpab	A	T	11: 51,493,451 (GRCm39)	N252K	probably benign	Het
Ing1	T	C	8: 11,611,934 (GRCm39)	V124A	probably damaging	Het
Izumo4	A	T	10: 80,539,725 (GRCm39)	T155S	probably benign	Het
Kcnb2	A	G	1: 15,780,315 (GRCm39)	I396V	probably benign	Het
Klc1	A	T	12: 111,741,006 (GRCm39)	I161F	probably benign	Het
Lpar5	C	A	6: 125,058,690 (GRCm39)	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,318,863 (GRCm39)	S900L	possibly damaging	Het
Lrrc37a	T	G	11: 103,346,338 (GRCm39)	N3176T	possibly damaging	Het
Mbd5	A	G	2: 49,206,422 (GRCm39)	D1713G	probably damaging	Het
Mctp2	T	A	7: 71,771,499 (GRCm39)		probably benign	Het
Muc6	T	G	7: 141,233,880 (GRCm39)	E808A	probably benign	Het
Mylk	G	T	16: 34,815,574 (GRCm39)		probably null	Het
Myrfl	T	C	10: 116,697,435 (GRCm39)	T30A	probably damaging	Het
Nbeal2	A	G	9: 110,467,005 (GRCm39)	V670A	possibly damaging	Het
Nphp3	T	C	9: 103,913,093 (GRCm39)		probably null	Het
Numbl	T	C	7: 26,979,027 (GRCm39)	S379P	probably benign	Het
Or10j7	G	T	1: 173,011,531 (GRCm39)	L157I	probably benign	Het
Or5an6	G	A	19: 12,371,914 (GRCm39)	V96I	probably benign	Het
Or5p57	G	T	7: 107,665,885 (GRCm39)	T40K	probably benign	Het
Otop3	T	A	11: 115,235,664 (GRCm39)	L432Q	probably damaging	Het
Papln	C	T	12: 83,825,608 (GRCm39)	R608C	possibly damaging	Het
Pigx	T	C	16: 31,906,240 (GRCm39)	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,741,776 (GRCm39)	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,303,825 (GRCm39)	T112A	probably benign	Het
Ppwd1	A	G	13: 104,356,745 (GRCm39)	Y257H	probably damaging	Het
Prkcb	G	T	7: 122,127,699 (GRCm39)	W274C	probably damaging	Het
Rabep1	T	C	11: 70,828,342 (GRCm39)		probably benign	Het
Ralgapa1	G	A	12: 55,842,438 (GRCm39)		probably benign	Het
Rasa1	A	G	13: 85,375,064 (GRCm39)		probably null	Het
Rbbp8nl	T	A	2: 179,920,001 (GRCm39)	T558S	probably benign	Het
Recql4	T	C	15: 76,590,369 (GRCm39)	D705G	possibly damaging	Het
Ror1	A	G	4: 100,298,130 (GRCm39)	Q501R	probably damaging	Het
Rundc3b	TGCCGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGCCGC	5: 8,672,549 (GRCm39)		probably benign	Het
Sirpb1b	A	G	3: 15,568,243 (GRCm39)	V366A	probably benign	Het
Slc30a4	T	A	2: 122,531,458 (GRCm39)	M136L	probably benign	Het
Slc5a6	C	T	5: 31,199,957 (GRCm39)		probably null	Het
Spaca1	T	C	4: 34,039,311 (GRCm39)	E192G	probably damaging	Het
Spata31	C	A	13: 65,069,462 (GRCm39)	P537T	probably benign	Het
Sptbn2	C	T	19: 4,800,660 (GRCm39)	R2292C	probably damaging	Het
Thbd	A	T	2: 148,249,110 (GRCm39)	Y253N	probably benign	Het
Tiam1	C	T	16: 89,662,159 (GRCm39)	R653H	probably damaging	Het
Tmc3	T	C	7: 83,271,713 (GRCm39)	V955A	probably benign	Het
Tnrc6c	G	A	11: 117,614,152 (GRCm39)	R770H	probably damaging	Het
Toe1	A	T	4: 116,663,308 (GRCm39)	N56K	probably damaging	Het
Tprkb	A	G	6: 85,905,764 (GRCm39)	K150E	probably damaging	Het
Trps1	T	C	15: 50,694,973 (GRCm39)	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,066,980 (GRCm39)	V86A	probably benign	Het
Ttc23	T	C	7: 67,359,063 (GRCm39)		probably benign	Het
Ttc36	A	T	9: 44,713,094 (GRCm39)		probably benign	Het
Tubb3	C	T	8: 124,138,414 (GRCm39)		probably benign	Het
Vmn2r68	C	T	7: 84,871,088 (GRCm39)	V732I	probably benign	Het
Vps18	A	G	2: 119,127,709 (GRCm39)	Y844C	probably benign	Het
Wdr72	T	A	9: 74,064,552 (GRCm39)	I528N	probably damaging	Het
Zfp292	C	T	4: 34,806,783 (GRCm39)	C2087Y	possibly damaging	Het
Zfp606	T	G	7: 12,215,123 (GRCm39)		probably benign	Het
Zfp933	G	A	4: 147,910,927 (GRCm39)	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,654,314 (GRCm39)	R724*	probably null	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
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
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

Posted On

2014-05-07