Mutagenetix > Incidental Mutation

Incidental Mutation 'R2967:Pgr'

263291

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

040523-MU

Accession Numbers

Essential gene?

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

Stock #

R2967 (G1)

Quality Score

156

Status

Not validated

Chromosome

Chromosomal Location

8899834-8968612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8901819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 451 (S451P)

Ref Sequence

ENSEMBL: ENSMUSP00000140124 (fasta)

Gene Model

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

AlphaFold

Q00175

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070463
AA Change: S451P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000063562
Gene: ENSMUSG00000031870
AA Change: S451P

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

possibly damaging
Transcript: ENSMUST00000098986
AA Change: S286P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096584
Gene: ENSMUSG00000031870
AA Change: S286P

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

possibly damaging
Transcript: ENSMUST00000189181
AA Change: S451P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140124
Gene: ENSMUSG00000031870
AA Change: S451P

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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,304,131 (GRCm39)	S185G	possibly damaging	Het
Adgra1	G	A	7: 139,455,601 (GRCm39)	E410K	possibly damaging	Het
Aox1	A	T	1: 58,361,993 (GRCm39)	N733I	probably damaging	Het
Bola3	T	A	6: 83,326,280 (GRCm39)	Y24N	probably benign	Het
Cntn6	G	A	6: 104,703,198 (GRCm39)	V135I	probably benign	Het
Eif2s3y	A	T	Y: 1,020,030 (GRCm39)	M353L	probably benign	Het
Ercc8	C	A	13: 108,297,248 (GRCm39)	P53T	probably damaging	Het
Gan	A	G	8: 117,910,265 (GRCm39)	K65E	probably damaging	Het
Gm1110	T	C	9: 26,792,339 (GRCm39)	E597G	probably benign	Het
Gsdmc4	T	A	15: 63,773,909 (GRCm39)	H81L	probably benign	Het
Hs2st1	T	A	3: 144,170,899 (GRCm39)	N91I	probably damaging	Het
Or1e31	A	G	11: 73,689,933 (GRCm39)	S217P	possibly damaging	Het
Or7a41	A	T	10: 78,870,887 (GRCm39)	I86F	probably damaging	Het
Pira13	T	A	7: 3,825,686 (GRCm39)	R394S	probably damaging	Het
Pwp2	A	G	10: 78,018,532 (GRCm39)	L84S	possibly damaging	Het
Rab1a	T	A	11: 20,173,068 (GRCm39)		probably null	Het
Secisbp2	T	C	13: 51,824,915 (GRCm39)	S388P	probably benign	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Sybu	T	C	15: 44,609,752 (GRCm39)	K172R	probably damaging	Het
Topbp1	C	T	9: 103,219,339 (GRCm39)	A1197V	probably benign	Het
Ttf1	T	A	2: 28,955,395 (GRCm39)	V253D	possibly damaging	Het
Ugt2a2	A	T	5: 87,622,488 (GRCm39)	V160E	probably damaging	Het
Vmn1r81	G	T	7: 11,993,964 (GRCm39)	Q215K	probably damaging	Het
Zfp653	A	G	9: 21,977,026 (GRCm39)	L147P	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
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
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'- AGACGCCTGGCTTGAAGATC -3'
(R):5'- TAAGGTATGGCGGGTAGACC -3'

Sequencing Primer
(F):5'- TTGAAGATCAAGGAGGAGGAGG -3'
(R):5'- AGGCTGTCCTTGAGCACC -3'

Posted On

2015-02-05