Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03070:Pgr'

417485

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pgr

Ensembl Gene

ENSMUSG00000031870

Gene Name

progesterone receptor

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

IGL03070

Quality Score

Status

Chromosome

Chromosomal Location

8899834-8968612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8903665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 562 (I562N)

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: I562N

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

SMART Domains

Protein: ENSMUSP00000063562
Gene: ENSMUSG00000031870
AA Change: I562N

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: I397N

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

SMART Domains

Protein: ENSMUSP00000096584
Gene: ENSMUSG00000031870
AA Change: I397N

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: I562N

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

SMART Domains

Protein: ENSMUSP00000140124
Gene: ENSMUSG00000031870
AA Change: I562N

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

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,193,800 (GRCm39)	E404G	probably damaging	Het
Arid1a	A	G	4: 133,422,064 (GRCm39)	S778P	unknown	Het
Asah2	A	T	19: 31,983,744 (GRCm39)	Y567N	probably damaging	Het
Crb1	G	T	1: 139,168,996 (GRCm39)	H841N	possibly damaging	Het
Ehbp1l1	A	G	19: 5,765,981 (GRCm39)	V1454A	probably benign	Het
Eif3d	A	G	15: 77,843,843 (GRCm39)	L501P	probably damaging	Het
Fbxo4	A	T	15: 4,007,344 (GRCm39)	S107T	possibly damaging	Het
Galnt10	T	C	11: 57,616,408 (GRCm39)	Y108H	probably damaging	Het
Hspbap1	T	A	16: 35,639,096 (GRCm39)	D263E	probably damaging	Het
Kpna3	T	C	14: 61,608,231 (GRCm39)		probably benign	Het
Miox	A	G	15: 89,220,287 (GRCm39)	T160A	possibly damaging	Het
Mlxipl	G	A	5: 135,161,307 (GRCm39)	V409M	possibly damaging	Het
Mrps21	A	T	3: 95,777,897 (GRCm39)		probably benign	Het
Muc6	A	G	7: 141,230,834 (GRCm39)		probably benign	Het
Mup6	A	T	4: 60,003,999 (GRCm39)	I31F	probably damaging	Het
Or52s1	A	G	7: 102,861,904 (GRCm39)	H279R	probably benign	Het
Pabir1	A	C	19: 24,454,316 (GRCm39)	D135E	probably damaging	Het
Prag1	T	A	8: 36,570,703 (GRCm39)	W429R	probably benign	Het
Prrc2c	G	T	1: 162,504,978 (GRCm39)	P2621Q	probably damaging	Het
Psip1	T	G	4: 83,383,318 (GRCm39)	K232N	probably damaging	Het
Ryr1	T	C	7: 28,770,084 (GRCm39)	Y2663C	probably damaging	Het
Trhr2	T	A	8: 123,085,342 (GRCm39)	Q214L	probably benign	Het
Txndc11	A	T	16: 10,893,151 (GRCm39)	Y860N	probably damaging	Het
Uqcc6	A	T	10: 82,455,950 (GRCm39)		probably benign	Het
Vmn2r72	C	T	7: 85,401,249 (GRCm39)		probably benign	Het
Yif1a	T	A	19: 5,138,757 (GRCm39)	H4Q	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
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
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

Posted On

2016-08-02