Mutagenetix > Incidental Mutation

Incidental Mutation 'R7387:Pelp1'

573195

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

045469-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R7387 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70283709-70300857 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70287425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 461 (T461I)

Ref Sequence

ENSEMBL: ENSMUSP00000019065 (fasta)

Gene Model

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

AlphaFold

Q9DBD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000019065
AA Change: T461I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000019065
Gene: ENSMUSG00000018921
AA Change: T461I

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,362,774 (GRCm39)	Y182H	probably damaging	Het
Abca6	A	G	11: 110,093,246 (GRCm39)	V1009A	probably benign	Het
Abcg2	A	T	6: 58,666,609 (GRCm39)	I573F	possibly damaging	Het
Adck1	A	G	12: 88,427,822 (GRCm39)	T480A	probably benign	Het
Adcy5	T	C	16: 35,092,460 (GRCm39)	I607T	probably damaging	Het
Add2	A	G	6: 86,062,997 (GRCm39)	K52E	probably damaging	Het
Arid4a	T	A	12: 71,134,270 (GRCm39)	S1191T	probably damaging	Het
Atg2a	G	T	19: 6,305,198 (GRCm39)	C1207F	possibly damaging	Het
Atg2b	T	C	12: 105,589,034 (GRCm39)	D1875G	probably damaging	Het
B3gntl1	A	G	11: 121,520,741 (GRCm39)	L224P	possibly damaging	Het
BC035947	A	G	1: 78,475,098 (GRCm39)	V478A	possibly damaging	Het
Cachd1	T	C	4: 100,634,375 (GRCm39)	V17A	unknown	Het
Cad	T	C	5: 31,219,284 (GRCm39)	Y669H	probably damaging	Het
Ccdc110	A	T	8: 46,395,233 (GRCm39)	M375L	probably benign	Het
Cdc6	C	T	11: 98,799,042 (GRCm39)		probably benign	Het
Cdhr4	T	A	9: 107,874,111 (GRCm39)	Y72*	probably null	Het
Cenpe	T	G	3: 134,952,798 (GRCm39)	M1496R	probably benign	Het
Clec4a1	T	G	6: 122,899,016 (GRCm39)	C28W	possibly damaging	Het
Cma2	A	G	14: 56,210,505 (GRCm39)	N120S	probably benign	Het
Cped1	A	T	6: 22,059,933 (GRCm39)	I200L	probably benign	Het
Cpsf1	A	T	15: 76,486,766 (GRCm39)	S257T	possibly damaging	Het
Dnah6	G	A	6: 73,189,595 (GRCm39)	Q18*	probably null	Het
Dpp10	T	C	1: 123,268,869 (GRCm39)	E720G	probably benign	Het
Dus2	G	A	8: 106,772,619 (GRCm39)	R243Q	probably damaging	Het
Dync2h1	T	C	9: 7,157,932 (GRCm39)	N769S	possibly damaging	Het
Ece1	T	A	4: 137,666,095 (GRCm39)	I313N	possibly damaging	Het
Ern1	A	T	11: 106,312,778 (GRCm39)	V201E	probably damaging	Het
Exoc3l	A	G	8: 106,021,605 (GRCm39)	L141P	probably damaging	Het
Fam168b	G	A	1: 34,858,789 (GRCm39)	T131M	probably damaging	Het
Fez1	T	C	9: 36,779,108 (GRCm39)	F262L	probably damaging	Het
H2-DMa	T	C	17: 34,357,101 (GRCm39)	Y200H	probably damaging	Het
H2-Eb1	T	A	17: 34,533,207 (GRCm39)	V143D	probably damaging	Het
Ighv1-39	G	A	12: 114,878,488 (GRCm39)	P28S	probably benign	Het
Inka1	C	T	9: 107,861,626 (GRCm39)	R230H	probably damaging	Het
Iqgap1	C	T	7: 80,370,738 (GRCm39)	V1544I	probably benign	Het
Itga10	A	T	3: 96,560,094 (GRCm39)	Q536L	probably benign	Het
Itih2	C	T	2: 10,135,319 (GRCm39)	E24K	possibly damaging	Het
Itsn2	A	T	12: 4,689,781 (GRCm39)	N618I	probably damaging	Het
Kcnd2	T	A	6: 21,216,777 (GRCm39)	S160R	probably benign	Het
Kif11	T	A	19: 37,398,204 (GRCm39)	F677I	probably damaging	Het
Ldlrad2	C	T	4: 137,301,828 (GRCm39)	C18Y	probably damaging	Het
Lrp4	T	C	2: 91,306,959 (GRCm39)	V360A	probably benign	Het
Lrrtm2	T	C	18: 35,346,025 (GRCm39)	T426A	probably damaging	Het
Mcidas	T	C	13: 113,130,622 (GRCm39)	F40L	probably benign	Het
Med27	T	A	2: 29,303,419 (GRCm39)	L123Q	possibly damaging	Het
Mettl2	T	C	11: 105,023,364 (GRCm39)	V249A	probably benign	Het
Mllt6	C	A	11: 97,565,426 (GRCm39)	A592D	probably benign	Het
Mrps5	C	T	2: 127,442,804 (GRCm39)	T291I	probably damaging	Het
Muc16	T	A	9: 18,553,016 (GRCm39)	T4426S	probably benign	Het
Myh1	A	T	11: 67,099,715 (GRCm39)	M542L	probably benign	Het
Nlrp12	G	T	7: 3,289,831 (GRCm39)	A227D	probably damaging	Het
Nlrp14	T	C	7: 106,782,314 (GRCm39)	Y504H	probably damaging	Het
Nr1i2	T	C	16: 38,086,442 (GRCm39)	S8G	probably benign	Het
Ntrk2	A	G	13: 59,133,793 (GRCm39)	K524R	probably damaging	Het
Nup210	C	T	6: 90,998,378 (GRCm39)		probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or4c100	T	A	2: 88,356,744 (GRCm39)	Y272*	probably null	Het
Or52e4	T	A	7: 104,706,297 (GRCm39)	Y281*	probably null	Het
Or5h27	A	T	16: 59,006,699 (GRCm39)	I49N	probably damaging	Het
Patl1	A	G	19: 11,911,094 (GRCm39)	I525M	probably benign	Het
Pcnx3	A	G	19: 5,723,364 (GRCm39)	L1277P	probably benign	Het
Phf20	T	C	2: 156,136,160 (GRCm39)	C660R	probably damaging	Het
Pkd1l1	T	A	11: 8,851,203 (GRCm39)	Y1193F		Het
Pknox2	G	T	9: 36,868,364 (GRCm39)		probably benign	Het
Pml	T	C	9: 58,137,177 (GRCm39)	T541A	probably benign	Het
Prss35	C	T	9: 86,637,974 (GRCm39)	T248I	probably damaging	Het
Rccd1	T	A	7: 79,970,350 (GRCm39)	N89I	probably benign	Het
Rcor3	T	C	1: 191,821,824 (GRCm39)		probably benign	Het
Rreb1	A	G	13: 38,131,040 (GRCm39)	E16G	unknown	Het
Scgb2b12	T	A	7: 32,026,060 (GRCm39)	H44L	probably benign	Het
Sec23ip	C	T	7: 128,346,727 (GRCm39)		probably benign	Het
Sgsm1	A	C	5: 113,411,566 (GRCm39)	F720C	probably damaging	Het
Slc25a51	A	T	4: 45,399,841 (GRCm39)	F116L	possibly damaging	Het
Spats2l	T	C	1: 57,941,293 (GRCm39)	V253A	probably damaging	Het
Spopl	A	T	2: 23,427,521 (GRCm39)	F204I	probably benign	Het
Sqle	G	A	15: 59,202,603 (GRCm39)	R519Q	probably benign	Het
Stil	T	G	4: 114,881,233 (GRCm39)	H592Q	probably benign	Het
Strip1	T	A	3: 107,533,046 (GRCm39)	S201C	probably damaging	Het
Tcp11l1	C	A	2: 104,530,275 (GRCm39)	A70S	possibly damaging	Het
Tmem163	T	C	1: 127,447,180 (GRCm39)		probably null	Het
Tmem184c	A	T	8: 78,324,559 (GRCm39)	Y310*	probably null	Het
Tmem30c	T	C	16: 57,090,386 (GRCm39)	N274D	probably benign	Het
Trim30c	T	A	7: 104,039,397 (GRCm39)	I133F	probably damaging	Het
Vars1	C	T	17: 35,223,768 (GRCm39)	Q228*	probably null	Het
Zdbf2	G	A	1: 63,343,198 (GRCm39)	V526I	possibly damaging	Het
Zfp819	T	G	7: 43,262,065 (GRCm39)		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
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
R6461:Pelp1	UTSW	11	70,287,132 (GRCm39)	missense	probably damaging	1.00
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'- CCTGGTACTGCATAGCTTGTGG -3'
(R):5'- AGAGGCCTTACAGGTGATTGTC -3'

Sequencing Primer
(F):5'- TACTGCATAGCTTGTGGTAAAAGG -3'
(R):5'- CCTTACAGGTGATTGTCCACGAG -3'

Posted On

2019-09-13