Mutagenetix > Incidental Mutation

Incidental Mutation 'R4907:Pgr'

379121

Institutional Source

Beutler Lab

Gene Symbol

Pgr

Ensembl Gene

ENSMUSG00000031870

Gene Name

progesterone receptor

Synonyms

NR3C3, 9930019P03Rik, PR-A, PR, ENSMUSG00000074510, PR-B

MMRRC Submission

042509-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.460) question?

Stock #

R4907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8899834-8968612 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 8947044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070463] [ENSMUST00000098986] [ENSMUST00000189181]

AlphaFold

Q00175

Predicted Effect

probably benign
Transcript: ENSMUST00000070463

SMART Domains

Protein: ENSMUSP00000063562
Gene: ENSMUSG00000031870

Domain	Start	End	E-Value	Type
low complexity region	45	55	N/A	INTRINSIC
low complexity region	108	120	N/A	INTRINSIC
low complexity region	244	265	N/A	INTRINSIC
low complexity region	337	354	N/A	INTRINSIC
low complexity region	418	431	N/A	INTRINSIC
low complexity region	434	454	N/A	INTRINSIC
low complexity region	493	503	N/A	INTRINSIC
low complexity region	505	519	N/A	INTRINSIC
ZnF_C4	557	628	1.29e-29	SMART
low complexity region	703	711	N/A	INTRINSIC
HOLI	713	877	3.21e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098986

SMART Domains

Protein: ENSMUSP00000096584
Gene: ENSMUSG00000031870

Domain	Start	End	E-Value	Type
low complexity region	79	100	N/A	INTRINSIC
low complexity region	172	189	N/A	INTRINSIC
low complexity region	253	266	N/A	INTRINSIC
low complexity region	269	289	N/A	INTRINSIC
low complexity region	328	338	N/A	INTRINSIC
low complexity region	340	354	N/A	INTRINSIC
ZnF_C4	392	463	1.29e-29	SMART
low complexity region	538	546	N/A	INTRINSIC
HOLI	548	712	3.21e-34	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151080

Predicted Effect

probably benign
Transcript: ENSMUST00000189181

SMART Domains

Protein: ENSMUSP00000140124
Gene: ENSMUSG00000031870

Domain	Start	End	E-Value	Type
low complexity region	45	55	N/A	INTRINSIC
low complexity region	108	120	N/A	INTRINSIC
low complexity region	244	265	N/A	INTRINSIC
low complexity region	337	354	N/A	INTRINSIC
low complexity region	418	431	N/A	INTRINSIC
low complexity region	434	454	N/A	INTRINSIC
low complexity region	493	503	N/A	INTRINSIC
low complexity region	505	519	N/A	INTRINSIC
ZnF_C4	557	628	1.29e-29	SMART
low complexity region	703	711	N/A	INTRINSIC
HOLI	713	877	3.21e-34	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

98% (89/91)

MGI Phenotype

FUNCTION: This gene encodes a member of the steroid receptor superfamily. The encoded protein mediates the physiological effects of progesterone, which plays a central role in reproductive events associated with the establishment and maintenance of pregnancy. [provided by RefSeq, Sep 2015]
PHENOTYPE: Null female mice are sterile and exhibit ovulatory defects, uterine hyperplasia, and impaired mammary development. Females lacking only isoform A are infertile but show normal mammary development, while females lacking only isoform B are fertile but present with mammary developmental defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	G	T	1: 57,422,350 (GRCm39)	G242V	probably damaging	Het
4933412E24Rik	T	C	15: 59,887,957 (GRCm39)	E161G	probably benign	Het
Abcc5	A	G	16: 20,195,296 (GRCm39)	S734P	possibly damaging	Het
Actn1	T	G	12: 80,228,188 (GRCm39)	H394P	probably damaging	Het
Adam8	A	T	7: 139,569,286 (GRCm39)	D144E	probably benign	Het
Ankrd50	A	T	3: 38,510,824 (GRCm39)	N514K	probably damaging	Het
Ankrd50	T	A	3: 38,509,122 (GRCm39)	K1082*	probably null	Het
Atp4a	A	G	7: 30,418,517 (GRCm39)	I602V	possibly damaging	Het
Baz2a	A	G	10: 127,946,677 (GRCm39)	T64A	probably damaging	Het
Btbd19	A	G	4: 116,977,764 (GRCm39)		probably benign	Het
Casz1	T	A	4: 149,028,998 (GRCm39)	S1148T	probably damaging	Het
Ccdc18	T	A	5: 108,284,007 (GRCm39)	D103E	probably benign	Het
Cd209d	T	C	8: 3,927,948 (GRCm39)	N52S	probably benign	Het
Cdh20	T	A	1: 110,066,053 (GRCm39)	Y776N	probably damaging	Het
Cdk14	A	G	5: 5,299,140 (GRCm39)	V101A	probably damaging	Het
Cldn22	T	C	8: 48,277,742 (GRCm39)	V60A	probably benign	Het
Clec10a	G	A	11: 70,060,797 (GRCm39)	G183D	probably benign	Het
Cnga3	T	C	1: 37,281,023 (GRCm39)		probably null	Het
Cts3	A	T	13: 61,714,634 (GRCm39)	F224I	probably benign	Het
Dync2i2	A	G	2: 29,922,472 (GRCm39)		probably null	Het
Fbxo40	A	G	16: 36,790,064 (GRCm39)	Y349H	probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Gm10029	A	T	13: 6,712,592 (GRCm39)		noncoding transcript	Het
Gm14399	T	A	2: 174,973,182 (GRCm39)		probably benign	Het
Gm9932	T	C	5: 100,347,014 (GRCm39)		noncoding transcript	Het
Immp1l	A	G	2: 105,767,462 (GRCm39)	Y107C	probably damaging	Het
Ism1	G	T	2: 139,520,672 (GRCm39)	G28V	probably benign	Het
Klf1	C	A	8: 85,629,814 (GRCm39)	S213*	probably null	Het
Krt12	T	C	11: 99,309,188 (GRCm39)	E329G	probably damaging	Het
Lama2	A	T	10: 27,040,942 (GRCm39)	N1460K	probably benign	Het
Llgl2	T	A	11: 115,744,800 (GRCm39)	Y932*	probably null	Het
Lrrc7	T	C	3: 157,866,877 (GRCm39)	I955V	probably damaging	Het
Ltbp1	A	G	17: 75,312,899 (GRCm39)	R7G	probably benign	Het
Mcm3ap	A	G	10: 76,329,275 (GRCm39)	E1152G	probably damaging	Het
Mgam2-ps	T	C	6: 40,811,677 (GRCm39)		noncoding transcript	Het
Mical3	T	A	6: 120,984,259 (GRCm39)	M206L	probably benign	Het
Mndal	T	G	1: 173,690,256 (GRCm39)	N358T	probably damaging	Het
Nckap5	A	G	1: 125,953,889 (GRCm39)	S824P	possibly damaging	Het
Ndufb2	T	C	6: 39,573,554 (GRCm39)		probably benign	Het
Nfatc3	C	A	8: 106,806,359 (GRCm39)	H401Q	probably damaging	Het
Npas2	T	C	1: 39,401,066 (GRCm39)	V810A	unknown	Het
Nt5c2	A	G	19: 46,884,978 (GRCm39)	V245A	possibly damaging	Het
Or1j4	A	T	2: 36,740,270 (GRCm39)	I71F	probably benign	Het
Or4d5	A	T	9: 40,011,955 (GRCm39)	M277K	probably benign	Het
Or51ah3	A	G	7: 103,210,241 (GRCm39)	M186V	possibly damaging	Het
Or52h9	A	G	7: 104,202,518 (GRCm39)	R131G	probably damaging	Het
Or5b109	A	G	19: 13,212,157 (GRCm39)	D181G	probably damaging	Het
Otof	A	T	5: 30,536,005 (GRCm39)		probably null	Het
Pck1	C	T	2: 172,998,816 (GRCm39)	T358I	probably damaging	Het
Pclo	T	C	5: 14,730,065 (GRCm39)		probably benign	Het
Pgm2	T	A	5: 64,261,221 (GRCm39)	F238L	probably benign	Het
Pkd1l3	T	A	8: 110,367,475 (GRCm39)	V1224E	probably damaging	Het
Pkd2l1	A	G	19: 44,142,581 (GRCm39)	V487A	possibly damaging	Het
Pkhd1	T	C	1: 20,279,450 (GRCm39)	D2956G	probably damaging	Het
Rexo2	A	T	9: 48,390,703 (GRCm39)		probably null	Het
Rgs22	T	A	15: 36,087,570 (GRCm39)	L573F	possibly damaging	Het
Rufy3	T	G	5: 88,732,051 (GRCm39)	I18S	possibly damaging	Het
Slc30a9	T	C	5: 67,503,505 (GRCm39)	L393P	probably damaging	Het
Snw1	T	C	12: 87,506,259 (GRCm39)	I214V	probably benign	Het
Sorbs1	G	A	19: 40,328,491 (GRCm39)	Q595*	probably null	Het
Spata21	T	A	4: 140,824,432 (GRCm39)		probably null	Het
Ss18l1	G	T	2: 179,705,192 (GRCm39)		probably null	Het
Tmem163	A	T	1: 127,447,107 (GRCm39)	L176H	probably damaging	Het
Tpd52	T	C	3: 9,009,668 (GRCm39)		probably null	Het
Tpsab1	T	A	17: 25,562,436 (GRCm39)	Y297F	possibly damaging	Het
Trim55	A	G	3: 19,728,538 (GRCm39)	T450A	probably benign	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Txndc11	A	T	16: 10,906,398 (GRCm39)	H377Q	probably benign	Het
Usp17la	A	G	7: 104,510,355 (GRCm39)	Y320C	probably damaging	Het
Vmn2r109	T	C	17: 20,770,348 (GRCm39)	N547D	probably damaging	Het
Vmn2r54	A	T	7: 12,350,150 (GRCm39)		probably null	Het
Wdr33	T	C	18: 32,040,046 (GRCm39)	*1331Q	probably null	Het
Wdr90	T	A	17: 26,079,624 (GRCm39)		probably benign	Het
Xpo7	T	C	14: 70,908,069 (GRCm39)	M903V	probably benign	Het
Zfhx3	T	A	8: 109,519,986 (GRCm39)	S369R	probably damaging	Het
Zfp808	T	C	13: 62,319,287 (GRCm39)	F172S	possibly damaging	Het
Zfp821	A	G	8: 110,450,625 (GRCm39)	E55G	probably benign	Het
Zfp964	T	C	8: 70,115,972 (GRCm39)	Y191H	possibly damaging	Het
Zfyve1	T	C	12: 83,621,646 (GRCm39)	T250A	probably damaging	Het

Other mutations in Pgr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01610:Pgr	APN	9	8,903,692 (GRCm39)	missense	possibly damaging	0.71
IGL01772:Pgr	APN	9	8,946,637 (GRCm39)	splice site	probably benign
IGL01963:Pgr	APN	9	8,922,669 (GRCm39)	missense	probably damaging	0.97
IGL02033:Pgr	APN	9	8,965,111 (GRCm39)	missense	probably damaging	1.00
IGL02837:Pgr	APN	9	8,946,639 (GRCm39)	splice site	probably benign
IGL03070:Pgr	APN	9	8,903,665 (GRCm39)	missense	possibly damaging	0.86
IGL03300:Pgr	APN	9	8,961,540 (GRCm39)	missense	probably damaging	1.00
R0152:Pgr	UTSW	9	8,965,023 (GRCm39)	missense	probably benign	0.45
R0305:Pgr	UTSW	9	8,902,088 (GRCm39)	splice site	probably benign
R0317:Pgr	UTSW	9	8,965,023 (GRCm39)	missense	probably benign	0.45
R0467:Pgr	UTSW	9	8,900,779 (GRCm39)	missense	possibly damaging	0.92
R1673:Pgr	UTSW	9	8,902,069 (GRCm39)	missense	possibly damaging	0.71
R1711:Pgr	UTSW	9	8,922,715 (GRCm39)	splice site	probably null
R1928:Pgr	UTSW	9	8,903,630 (GRCm39)	nonsense	probably null
R1951:Pgr	UTSW	9	8,946,954 (GRCm39)	splice site	probably benign
R2023:Pgr	UTSW	9	8,958,399 (GRCm39)	missense	probably damaging	0.99
R2426:Pgr	UTSW	9	8,900,718 (GRCm39)	missense	probably damaging	0.98
R2967:Pgr	UTSW	9	8,901,819 (GRCm39)	missense	possibly damaging	0.86
R3105:Pgr	UTSW	9	8,958,397 (GRCm39)	missense	probably benign	0.02
R3440:Pgr	UTSW	9	8,922,630 (GRCm39)	missense	probably damaging	0.98
R3735:Pgr	UTSW	9	8,901,534 (GRCm39)	missense	probably damaging	0.99
R3947:Pgr	UTSW	9	8,961,453 (GRCm39)	missense	probably benign	0.25
R4398:Pgr	UTSW	9	8,903,750 (GRCm39)	critical splice donor site	probably null
R4497:Pgr	UTSW	9	8,958,420 (GRCm39)	missense	probably damaging	0.99
R4811:Pgr	UTSW	9	8,900,844 (GRCm39)	nonsense	probably null
R4996:Pgr	UTSW	9	8,900,914 (GRCm39)	missense	probably damaging	0.99
R5448:Pgr	UTSW	9	8,922,638 (GRCm39)	missense	probably benign	0.06
R5449:Pgr	UTSW	9	8,956,344 (GRCm39)	missense	possibly damaging	0.95
R5699:Pgr	UTSW	9	8,900,600 (GRCm39)	start gained	probably benign
R5764:Pgr	UTSW	9	8,900,538 (GRCm39)	missense	probably benign	0.00
R6057:Pgr	UTSW	9	8,902,006 (GRCm39)	missense	probably damaging	0.98
R6134:Pgr	UTSW	9	8,900,740 (GRCm39)	missense	possibly damaging	0.51
R6242:Pgr	UTSW	9	8,900,980 (GRCm39)	missense	probably benign
R6476:Pgr	UTSW	9	8,964,839 (GRCm39)	splice site	probably null
R6508:Pgr	UTSW	9	8,956,290 (GRCm39)	missense	probably damaging	1.00
R6604:Pgr	UTSW	9	8,946,867 (GRCm39)	missense	possibly damaging	0.73
R6715:Pgr	UTSW	9	8,965,000 (GRCm39)	missense	possibly damaging	0.93
R7444:Pgr	UTSW	9	8,946,883 (GRCm39)	missense	probably damaging	1.00
R7769:Pgr	UTSW	9	8,946,856 (GRCm39)	missense	possibly damaging	0.88
R7899:Pgr	UTSW	9	8,903,743 (GRCm39)	missense	probably benign	0.11
R8139:Pgr	UTSW	9	8,956,341 (GRCm39)	missense	possibly damaging	0.61
R8198:Pgr	UTSW	9	8,958,411 (GRCm39)	missense	possibly damaging	0.84
R8348:Pgr	UTSW	9	8,922,602 (GRCm39)	missense	probably benign	0.32
R8713:Pgr	UTSW	9	8,900,818 (GRCm39)	missense	possibly damaging	0.92
R8725:Pgr	UTSW	9	8,901,544 (GRCm39)	missense	probably damaging	0.99
R8727:Pgr	UTSW	9	8,901,544 (GRCm39)	missense	probably damaging	0.99
R8748:Pgr	UTSW	9	8,958,449 (GRCm39)	missense	probably benign	0.19
R9518:Pgr	UTSW	9	8,922,645 (GRCm39)	missense	probably damaging	0.99
R9542:Pgr	UTSW	9	8,901,532 (GRCm39)	missense	possibly damaging	0.86
R9631:Pgr	UTSW	9	8,900,847 (GRCm39)	missense	probably benign	0.32
R9639:Pgr	UTSW	9	8,900,994 (GRCm39)	missense	possibly damaging	0.95
R9750:Pgr	UTSW	9	8,901,918 (GRCm39)	missense	possibly damaging	0.86
X0066:Pgr	UTSW	9	8,900,835 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- AAGCCTGACACTTCCAGCTC -3'
(R):5'- CTGCTAATTGTTTCATGTAGGCAGC -3'

Sequencing Primer
(F):5'- CTTTGCTGACCAGTCTCAACCAAC -3'
(R):5'- GTTTCATGTAGGCAGCAATCAGC -3'

Posted On

2016-04-15