Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02211:Pgrmc2'

284717

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pgrmc2

Ensembl Gene

ENSMUSG00000049940

Gene Name

progesterone receptor membrane component 2

Synonyms

5730409G06Rik, 4631434O19Rik, DG6

Accession Numbers

Essential gene?

Probably essential (E-score: 0.790) question?

Stock #

IGL02211

Quality Score

Status

Chromosome

Chromosomal Location

41020772-41037443 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41037068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 121 (V121A)

Ref Sequence

ENSEMBL: ENSMUSP00000056643 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058578]

AlphaFold

Q80UU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000058578
AA Change: V121A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056643
Gene: ENSMUSG00000049940
AA Change: V121A

Domain	Start	End	E-Value	Type
low complexity region	14	36	N/A	INTRINSIC
transmembrane domain	40	62	N/A	INTRINSIC
Cyt-b5	97	195	2.62e-23	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a conditional allele activated in the uterus exhibit early female reproductive senescence, decreased uterine NK cell number, increased endometrial gland number and uterine cysts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apoc3	C	A	9: 46,144,513 (GRCm39)		probably benign	Het
Atp8a2	C	T	14: 60,265,425 (GRCm39)	G304R	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cct4	A	G	11: 22,943,327 (GRCm39)		probably benign	Het
Cd28	T	C	1: 60,802,153 (GRCm39)	V24A	probably damaging	Het
Cfap70	T	C	14: 20,445,040 (GRCm39)	N1080S	probably damaging	Het
Cpa6	A	T	1: 10,665,861 (GRCm39)	I59K	possibly damaging	Het
Cramp1	A	G	17: 25,196,610 (GRCm39)	S835P	possibly damaging	Het
Crim1	T	C	17: 78,662,574 (GRCm39)	L799S	probably damaging	Het
Cxcl16	T	C	11: 70,346,858 (GRCm39)	H95R	possibly damaging	Het
Dip2c	T	A	13: 9,660,883 (GRCm39)	C915S	probably damaging	Het
Dytn	T	A	1: 63,714,089 (GRCm39)	N137Y	possibly damaging	Het
Exoc5	T	A	14: 49,251,667 (GRCm39)	Q628L	probably damaging	Het
Flii	A	G	11: 60,609,124 (GRCm39)		probably benign	Het
Hnrnph3	A	T	10: 62,853,121 (GRCm39)		probably benign	Het
Iqsec1	A	G	6: 90,648,591 (GRCm39)	L830P	probably damaging	Het
Kank1	G	T	19: 25,407,702 (GRCm39)	G1232V	probably damaging	Het
Kcnmb2	A	G	3: 32,252,483 (GRCm39)	E228G	probably damaging	Het
Limk1	A	T	5: 134,686,491 (GRCm39)	V538E	probably damaging	Het
Mmp20	T	A	9: 7,655,071 (GRCm39)	I393K	probably damaging	Het
Mtmr1	A	G	X: 70,455,863 (GRCm39)	D574G	possibly damaging	Het
Nr1h2	A	C	7: 44,199,884 (GRCm39)	M345R	probably damaging	Het
Nyap1	T	C	5: 137,737,937 (GRCm39)	H15R	probably damaging	Het
Or2ak4	G	T	11: 58,649,196 (GRCm39)	S235I	possibly damaging	Het
Or52h7	A	T	7: 104,214,333 (GRCm39)	K302*	probably null	Het
Pde4b	T	G	4: 102,448,019 (GRCm39)		probably benign	Het
Ptges3	T	C	10: 127,911,927 (GRCm39)		probably benign	Het
Ranbp2	T	C	10: 58,314,064 (GRCm39)	S1595P	probably benign	Het
Rhbdf2	A	G	11: 116,491,261 (GRCm39)	F625L	possibly damaging	Het
Rhpn1	T	C	15: 75,582,905 (GRCm39)	S281P	possibly damaging	Het
Samd3	G	T	10: 26,109,455 (GRCm39)	G128W	probably damaging	Het
Septin5	T	C	16: 18,443,629 (GRCm39)	K51E	probably damaging	Het
Serpina7	G	A	X: 137,982,062 (GRCm39)	T185I	probably damaging	Het
Slc25a25	A	G	2: 32,307,452 (GRCm39)	V303A	probably damaging	Het
Slc5a4b	A	T	10: 75,896,297 (GRCm39)		probably benign	Het
Srpk3	A	T	X: 72,818,754 (GRCm39)	H114L	probably benign	Het
Sybu	T	G	15: 44,536,862 (GRCm39)	Q360P	probably damaging	Het
Vmn1r179	A	T	7: 23,628,630 (GRCm39)	I274F	probably benign	Het
Wdsub1	G	T	2: 59,689,080 (GRCm39)	R381S	probably damaging	Het
Wscd1	G	A	11: 71,679,801 (GRCm39)	R558H	probably damaging	Het

Other mutations in Pgrmc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03290:Pgrmc2	APN	3	41,023,061 (GRCm39)	utr 3 prime	probably benign
R1935:Pgrmc2	UTSW	3	41,037,473 (GRCm39)	start gained	probably benign
R1936:Pgrmc2	UTSW	3	41,037,473 (GRCm39)	start gained	probably benign
R4694:Pgrmc2	UTSW	3	41,024,840 (GRCm39)	missense	probably damaging	1.00
R7010:Pgrmc2	UTSW	3	41,037,068 (GRCm39)	missense	probably damaging	1.00
R7892:Pgrmc2	UTSW	3	41,037,415 (GRCm39)	missense	probably damaging	0.99
R8937:Pgrmc2	UTSW	3	41,037,125 (GRCm39)	missense	probably damaging	1.00
R9029:Pgrmc2	UTSW	3	41,037,105 (GRCm39)	missense	probably benign	0.04
R9135:Pgrmc2	UTSW	3	41,023,099 (GRCm39)	missense	probably damaging	1.00
Z1177:Pgrmc2	UTSW	3	41,024,813 (GRCm39)	missense	possibly damaging	0.88

Posted On

2015-04-16