Mutagenetix > Incidental Mutations

Incidental Mutation 'R2426:Pgr'

250226

Institutional Source

Beutler Lab

Gene Symbol

Pgr

Ensembl Gene

ENSMUSG00000031870

Gene Name

progesterone receptor

Synonyms

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

MMRRC Submission

040388-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.341) question?

Stock #

R2426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8899833-8968611 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 8900717 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 84 (V84M)

Ref Sequence

ENSEMBL: ENSMUSP00000140124 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000070463
AA Change: V84M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063562
Gene: ENSMUSG00000031870
AA Change: V84M

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 damaging
Transcript: ENSMUST00000189181
AA Change: V84M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140124
Gene: ENSMUSG00000031870
AA Change: V84M

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: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	A	11: 23,576,801	R190W	probably damaging	Het
Abca14	G	T	7: 120,283,223	V1203L	probably benign	Het
Adamtsl1	G	A	4: 86,156,788	V131I	probably benign	Het
Adgra3	A	T	5: 50,009,449	M187K	possibly damaging	Het
Agbl1	T	C	7: 76,421,902	V324A	probably damaging	Het
Ahnak	A	T	19: 9,002,851	I500F	possibly damaging	Het
Aldh1l1	A	G	6: 90,598,284	D851G	probably damaging	Het
Amot	T	C	X: 145,476,291	K460E	probably damaging	Het
Arhgef3	G	T	14: 27,384,181	E161*	probably null	Het
Atg9b	A	T	5: 24,386,994	I669N	probably damaging	Het
AY761184	T	G	8: 21,702,637	K114N	possibly damaging	Het
Ccdc83	A	G	7: 90,228,431	Y268H	probably damaging	Het
Cep170	A	G	1: 176,774,635	S302P	probably benign	Het
Cyp4a31	T	A	4: 115,571,016	M303K	probably damaging	Het
Cyp4v3	T	A	8: 45,317,776	Y231F	probably benign	Het
Dock3	A	T	9: 106,914,541	L1411Q	possibly damaging	Het
Dsg1a	T	A	18: 20,336,804	I629N	probably damaging	Het
Dst	A	T	1: 34,192,812	H2837L	probably benign	Het
Fam114a2	G	A	11: 57,493,080	P343L	probably benign	Het
Fbrs	A	G	7: 127,487,339		probably null	Het
Fbxl13	A	C	5: 21,522,137	D620E	probably damaging	Het
Frmd4a	T	A	2: 4,529,862	S164T	probably damaging	Het
Gdi2	T	G	13: 3,562,034	S330A	probably benign	Het
Gm5878	A	T	6: 85,118,631	M70K	probably benign	Het
H2-Q6	G	T	17: 35,424,937	A21S	probably benign	Het
Hfm1	A	T	5: 106,847,653		probably null	Het
Hnmt	C	T	2: 24,019,155	C82Y	probably benign	Het
Il1rl1	C	A	1: 40,446,619	A310D	probably damaging	Het
Ints1	A	T	5: 139,771,814		probably null	Het
Kcne4	C	A	1: 78,817,971	A112E	possibly damaging	Het
Krt32	T	C	11: 100,086,366	K236R	possibly damaging	Het
Maml2	T	C	9: 13,706,498	L380P	probably damaging	Het
Meis1	A	T	11: 18,988,356	D218E	possibly damaging	Het
Mon1b	G	A	8: 113,639,120	G360D	probably damaging	Het
Mpp4	A	G	1: 59,130,057	S383P	probably damaging	Het
Neb	A	G	2: 52,169,053		probably null	Het
Nlgn2	A	T	11: 69,827,086	I431N	probably damaging	Het
Nr2e1	A	G	10: 42,563,485	L134P	probably damaging	Het
Olfr329-ps	A	T	11: 58,543,094	Y127*	probably null	Het
Olfr371	T	C	8: 85,231,064	S190P	probably damaging	Het
Olfr777	T	C	10: 129,269,266	Q19R	probably benign	Het
Opcml	G	A	9: 28,903,367		probably null	Het
Pate2	A	T	9: 35,670,480		probably null	Het
Pigu	A	T	2: 155,299,082	V296D	probably damaging	Het
Plcb2	G	A	2: 118,715,649	T555M	probably damaging	Het
Pld5	T	G	1: 175,963,976	D426A	probably benign	Het
Prdm2	G	T	4: 143,111,750	C1679*	probably null	Het
Psme2b	A	T	11: 48,946,063	V19D	probably benign	Het
Ptpn9	A	T	9: 57,027,428	N159Y	possibly damaging	Het
Sdc3	A	T	4: 130,818,803	T64S	unknown	Het
Serping1	T	G	2: 84,770,219	S260R	probably damaging	Het
Slc20a1	T	C	2: 129,208,230	F436S	probably benign	Het
Sntb1	A	T	15: 55,906,179	I138N	probably damaging	Het
Sorcs3	A	T	19: 48,722,925	Y643F	probably damaging	Het
Spink1	G	T	18: 43,735,222	S23*	probably null	Het
Stag1	T	C	9: 100,845,116		probably null	Het
Tnfaip8l1	G	A	17: 56,172,030	V107I	probably benign	Het
Tnik	A	G	3: 28,646,681	S907G	probably damaging	Het
Ttf1	T	A	2: 29,067,185	M489K	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Usp54	G	A	14: 20,564,940	A811V	probably benign	Het
Xirp2	A	G	2: 67,514,471	N2352S	probably benign	Het
Zan	T	C	5: 137,388,992	Y4933C	unknown	Het
Zbtb8a	A	G	4: 129,360,219	S161P	probably benign	Het
Zkscan5	A	T	5: 145,220,940	I751L	probably benign	Het
Zscan4d	A	G	7: 11,165,095	F85S	probably damaging	Het
Zzef1	A	G	11: 72,915,265	M2647V	probably benign	Het

Other mutations in Pgr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01610:Pgr	APN	9	8903691	missense	possibly damaging	0.71
IGL01772:Pgr	APN	9	8946636	splice site	probably benign
IGL01963:Pgr	APN	9	8922668	missense	probably damaging	0.97
IGL02033:Pgr	APN	9	8965110	missense	probably damaging	1.00
IGL02837:Pgr	APN	9	8946638	splice site	probably benign
IGL03070:Pgr	APN	9	8903664	missense	possibly damaging	0.86
IGL03300:Pgr	APN	9	8961539	missense	probably damaging	1.00
R0152:Pgr	UTSW	9	8965022	missense	probably benign	0.45
R0305:Pgr	UTSW	9	8902087	splice site	probably benign
R0317:Pgr	UTSW	9	8965022	missense	probably benign	0.45
R0467:Pgr	UTSW	9	8900778	missense	possibly damaging	0.92
R1673:Pgr	UTSW	9	8902068	missense	possibly damaging	0.71
R1711:Pgr	UTSW	9	8922714	splice site	probably null
R1928:Pgr	UTSW	9	8903629	nonsense	probably null
R1951:Pgr	UTSW	9	8946953	splice site	probably benign
R2023:Pgr	UTSW	9	8958398	missense	probably damaging	0.99
R2967:Pgr	UTSW	9	8901818	missense	possibly damaging	0.86
R3105:Pgr	UTSW	9	8958396	missense	probably benign	0.02
R3440:Pgr	UTSW	9	8922629	missense	probably damaging	0.98
R3735:Pgr	UTSW	9	8901533	missense	probably damaging	0.99
R3947:Pgr	UTSW	9	8961452	missense	probably benign	0.25
R4398:Pgr	UTSW	9	8903749	critical splice donor site	probably null
R4497:Pgr	UTSW	9	8958419	missense	probably damaging	0.99
R4811:Pgr	UTSW	9	8900843	nonsense	probably null
R4907:Pgr	UTSW	9	8947043	intron	probably benign
R4996:Pgr	UTSW	9	8900913	missense	probably damaging	0.99
R5448:Pgr	UTSW	9	8922637	missense	probably benign	0.06
R5449:Pgr	UTSW	9	8956343	missense	possibly damaging	0.95
R5699:Pgr	UTSW	9	8900599	start gained	probably benign
R5764:Pgr	UTSW	9	8900537	missense	probably benign	0.00
R6057:Pgr	UTSW	9	8902005	missense	probably damaging	0.98
R6134:Pgr	UTSW	9	8900739	missense	possibly damaging	0.51
R6242:Pgr	UTSW	9	8900979	missense	probably benign
R6476:Pgr	UTSW	9	8964838	splice site	probably null
R6508:Pgr	UTSW	9	8956289	missense	probably damaging	1.00
R6604:Pgr	UTSW	9	8946866	missense	possibly damaging	0.73
R6715:Pgr	UTSW	9	8964999	missense	possibly damaging	0.93
R7444:Pgr	UTSW	9	8946882	missense	probably damaging	1.00
R7769:Pgr	UTSW	9	8946855	missense	possibly damaging	0.88
R7899:Pgr	UTSW	9	8903742	missense	probably benign	0.11
R8139:Pgr	UTSW	9	8956340	missense	possibly damaging	0.61
R8198:Pgr	UTSW	9	8958410	missense	possibly damaging	0.84
R8348:Pgr	UTSW	9	8922601	missense	probably benign	0.32
R8725:Pgr	UTSW	9	8901543	missense	probably damaging	0.99
R8727:Pgr	UTSW	9	8901543	missense	probably damaging	0.99
R8748:Pgr	UTSW	9	8958448	missense	probably benign	0.19
X0066:Pgr	UTSW	9	8900834	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TGAGCTGCAGGCAAAGGATC -3'
(R):5'- AAGCTCTGGCCCAAAGAGAC -3'

Sequencing Primer
(F):5'- AGGTTCTCCACACGTCTGG -3'
(R):5'- ACACCAGGAAGTGATGGCCTC -3'

Posted On

2014-11-12