Mutagenetix > Incidental Mutation

Incidental Mutation 'R6242:Pgr'

505302

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

044434-MU

Accession Numbers

Essential gene?

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

Stock #

R6242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8899834-8968612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8900980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 171 (I171N)

Ref Sequence

ENSEMBL: ENSMUSP00000140124 (fasta)

Gene Model

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

AlphaFold

Q00175

Predicted Effect

probably benign
Transcript: ENSMUST00000070463
AA Change: I171N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000063562
Gene: ENSMUSG00000031870
AA Change: I171N

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
AA Change: I6N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096584
Gene: ENSMUSG00000031870
AA Change: I6N

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
AA Change: I171N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140124
Gene: ENSMUSG00000031870
AA Change: I171N

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

99% (75/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	G	T	15: 98,501,896 (GRCm39)	C239*	probably null	Het
Akr1c6	A	G	13: 4,486,361 (GRCm39)	Q56R	probably benign	Het
Apaf1	T	A	10: 90,898,025 (GRCm39)	D244V	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Arhgef11	C	A	3: 87,635,385 (GRCm39)	A898E	probably benign	Het
Asxl3	A	T	18: 22,655,433 (GRCm39)	N1148Y	probably damaging	Het
Atf6	T	A	1: 170,621,545 (GRCm39)	Q492L	possibly damaging	Het
Atrnl1	G	T	19: 57,630,910 (GRCm39)	V226F	probably benign	Het
Cfap68	C	T	9: 50,675,215 (GRCm39)	E148K	probably benign	Het
Cntnap1	A	T	11: 101,073,364 (GRCm39)	Y615F	probably damaging	Het
Crybg3	T	C	16: 59,376,053 (GRCm39)	T1734A	probably benign	Het
Ctdp1	A	C	18: 80,502,427 (GRCm39)	V161G	probably damaging	Het
Cyp4a30b	T	A	4: 115,311,587 (GRCm39)	V85E	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Epha6	A	T	16: 59,503,025 (GRCm39)	W961R	probably damaging	Het
Fam114a1	A	G	5: 65,188,695 (GRCm39)	E475G	probably damaging	Het
Fam186a	A	G	15: 99,837,788 (GRCm39)	Y2819H	unknown	Het
Fancm	A	T	12: 65,163,216 (GRCm39)	Q1460L	probably benign	Het
Fancm	C	A	12: 65,163,223 (GRCm39)	N1462K	probably benign	Het
Fgf14	T	C	14: 124,913,940 (GRCm39)	K64E	probably benign	Het
Fndc5	T	C	4: 129,033,688 (GRCm39)	V152A	probably benign	Het
Garem1	C	G	18: 21,262,229 (GRCm39)	V862L	possibly damaging	Het
Grin3b	G	A	10: 79,812,013 (GRCm39)	G814R	probably damaging	Het
Hacd4	A	G	4: 88,332,524 (GRCm39)	S226P	probably benign	Het
Htt	A	G	5: 35,003,356 (GRCm39)	Y1277C	probably damaging	Het
Igkv1-131	T	A	6: 67,743,062 (GRCm39)	D107V	probably damaging	Het
Iqcc	T	C	4: 129,510,639 (GRCm39)	D292G	probably damaging	Het
Krtap13	C	T	16: 88,548,384 (GRCm39)	V35I	probably damaging	Het
Liat1	T	C	11: 75,890,981 (GRCm39)	S32P	probably damaging	Het
Lrrc59	G	T	11: 94,525,809 (GRCm39)	L132F	possibly damaging	Het
Mcub	T	C	3: 129,709,444 (GRCm39)	S290G	probably benign	Het
Mettl4	A	G	17: 95,042,802 (GRCm39)	W345R	probably damaging	Het
Msgn1	G	A	12: 11,258,526 (GRCm39)	R142W	probably damaging	Het
Myo5c	A	G	9: 75,180,893 (GRCm39)	I761V	probably benign	Het
Neb	T	A	2: 52,066,824 (GRCm39)	K5879M	probably damaging	Het
Nkd2	C	T	13: 73,970,905 (GRCm39)	V226M	probably damaging	Het
Nt5el	T	A	13: 105,246,048 (GRCm39)	V203E	probably benign	Het
Or51a24	T	G	7: 103,733,771 (GRCm39)	H172P	possibly damaging	Het
Or5b106	T	A	19: 13,123,450 (GRCm39)	H191L	probably benign	Het
Parp4	T	A	14: 56,832,856 (GRCm39)	L393*	probably null	Het
Pcdhgb6	G	A	18: 37,876,608 (GRCm39)	V439I	probably benign	Het
Pde1a	T	A	2: 79,959,136 (GRCm39)	T15S	probably benign	Het
Podxl	T	A	6: 31,503,180 (GRCm39)	D296V	probably benign	Het
Polr3e	A	T	7: 120,539,690 (GRCm39)	E479V	possibly damaging	Het
Prdm10	A	T	9: 31,252,548 (GRCm39)	H427L	possibly damaging	Het
Prl5a1	A	T	13: 28,326,538 (GRCm39)	K5*	probably null	Het
Prph	A	G	15: 98,955,004 (GRCm39)	S325G	probably damaging	Het
Rabl2	C	A	15: 89,468,555 (GRCm39)	W49L	probably benign	Het
Rbbp8nl	T	A	2: 179,922,767 (GRCm39)	I209F	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Scn7a	T	C	2: 66,531,110 (GRCm39)	D589G	probably benign	Het
Sdr42e1	A	T	8: 118,389,936 (GRCm39)	L235Q	possibly damaging	Het
Serpina3a	T	C	12: 104,082,260 (GRCm39)	M11T	probably benign	Het
Slc6a4	A	T	11: 76,909,184 (GRCm39)	K399*	probably null	Het
Slco4c1	T	A	1: 96,767,008 (GRCm39)	T337S	probably damaging	Het
Spc25	A	T	2: 69,027,555 (GRCm39)	F112L	probably damaging	Het
Swt1	A	G	1: 151,283,365 (GRCm39)	S331P	probably benign	Het
Tab1	A	T	15: 80,039,971 (GRCm39)	K264*	probably null	Het
Tagln3	T	A	16: 45,544,701 (GRCm39)		probably benign	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tbck	A	G	3: 132,400,189 (GRCm39)	D80G	probably benign	Het
Tcim	A	T	8: 24,928,911 (GRCm39)	M1K	probably null	Het
Thap2	A	G	10: 115,208,831 (GRCm39)	S37P	unknown	Het
Tjp2	A	T	19: 24,076,967 (GRCm39)		probably null	Het
Tln1	G	A	4: 43,533,145 (GRCm39)	S2390L	probably damaging	Het
Trpm5	T	G	7: 142,626,919 (GRCm39)	I1101L	probably benign	Het
Ttc3	T	G	16: 94,243,554 (GRCm39)	M831R	probably benign	Het
Tulp3	A	G	6: 128,300,050 (GRCm39)	C459R	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Unc13b	A	T	4: 43,165,800 (GRCm39)	T195S	possibly damaging	Het
Urgcp	A	G	11: 5,666,691 (GRCm39)	L549P	probably benign	Het
Usp10	G	T	8: 120,668,577 (GRCm39)	A293S	probably benign	Het
Vmn2r23	A	G	6: 123,681,359 (GRCm39)	E89G	possibly damaging	Het
Vmn2r75	A	C	7: 85,814,592 (GRCm39)	D300E	probably damaging	Het
Wif1	T	C	10: 120,870,366 (GRCm39)	I40T	possibly damaging	Het
Zmynd8	G	A	2: 165,740,867 (GRCm39)	R6C	possibly 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
R4907:Pgr	UTSW	9	8,947,044 (GRCm39)	intron	probably benign
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
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'- AGACAGTGTCTTAGACTCGTTG -3'
(R):5'- TTCCAGTGCTCGAGGTTTGC -3'

Sequencing Primer
(F):5'- ACAGTGTCTTAGACTCGTTGTTGAC -3'
(R):5'- CTCGAGGTTTGCTCTTTAGAAGC -3'

Posted On

2018-02-28