Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00824:Paqr7'

12906

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Paqr7

Ensembl Gene

ENSMUSG00000037348

Gene Name

progestin and adipoQ receptor family member VII

Synonyms

mPR, 2310021M12Rik, PGLP, Mpra

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00824

Quality Score

Status

Chromosome

Chromosomal Location

134224315-134237548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134234278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 45 (Y45C)

Ref Sequence

ENSEMBL: ENSMUSP00000122936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081525] [ENSMUST00000095074] [ENSMUST00000105866] [ENSMUST00000125330] [ENSMUST00000134506] [ENSMUST00000136171]

AlphaFold

Q80ZE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000081525
AA Change: Y45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080240
Gene: ENSMUSG00000037348
AA Change: Y45C

Domain	Start	End	E-Value	Type
Pfam:HlyIII	65	289	7.1e-52	PFAM
transmembrane domain	314	336	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000095074
AA Change: Y45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125932
Gene: ENSMUSG00000037348
AA Change: Y45C

Domain	Start	End	E-Value	Type
Pfam:HlyIII	65	289	2.4e-45	PFAM
transmembrane domain	314	336	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105866

SMART Domains

Protein: ENSMUSP00000101492
Gene: ENSMUSG00000078521

Domain	Start	End	E-Value	Type
Pfam:AIB	26	335	1.5e-134	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000125330
AA Change: Y45C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116485
Gene: ENSMUSG00000037348
AA Change: Y45C

Domain	Start	End	E-Value	Type
Pfam:HlyIII	65	147	3.4e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000134506
AA Change: Y45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120959
Gene: ENSMUSG00000037348
AA Change: Y45C

Domain	Start	End	E-Value	Type
Pfam:HlyIII	65	127	4.6e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000136171
AA Change: Y45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122936
Gene: ENSMUSG00000037348
AA Change: Y45C

Domain	Start	End	E-Value	Type
Pfam:HlyIII	65	237	1.5e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155449

Meta Mutation Damage Score

0.6957

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atl1	A	G	12: 69,979,012 (GRCm39)	T147A	probably damaging	Het
Cdh17	A	G	4: 11,784,675 (GRCm39)	K277R	probably benign	Het
Cyp2j5	A	G	4: 96,552,160 (GRCm39)	F30L	probably benign	Het
Hmcn1	A	T	1: 150,532,485 (GRCm39)	V3134E	probably damaging	Het
Il2ra	T	C	2: 11,687,910 (GRCm39)	V230A	probably benign	Het
Mgst2	C	T	3: 51,589,999 (GRCm39)	P146S	probably benign	Het
Myrfl	T	C	10: 116,685,264 (GRCm39)		probably benign	Het
Nat8f5	A	C	6: 85,794,279 (GRCm39)	L227R	probably damaging	Het
Osbpl2	G	A	2: 179,792,060 (GRCm39)	V255M	probably benign	Het
Papln	A	G	12: 83,817,210 (GRCm39)	S27G	possibly damaging	Het
Pkhd1	A	G	1: 20,151,408 (GRCm39)		probably null	Het
Plrg1	C	T	3: 82,975,642 (GRCm39)	T295I	probably damaging	Het
Spata31e2	T	C	1: 26,722,670 (GRCm39)	I837V	possibly damaging	Het
Sypl1	T	A	12: 33,015,505 (GRCm39)		probably benign	Het
Tmco3	T	A	8: 13,342,825 (GRCm39)	V187E	probably damaging	Het
Trmt2b	T	C	X: 133,168,154 (GRCm39)	I47M	possibly damaging	Het
Vmn2r61	T	A	7: 41,916,438 (GRCm39)	N350K	probably benign	Het
Zfp687	A	G	3: 94,916,496 (GRCm39)	L842P	probably damaging	Het

Other mutations in Paqr7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02418:Paqr7	APN	4	134,234,284 (GRCm39)	missense	probably damaging	1.00
R1301:Paqr7	UTSW	4	134,235,124 (GRCm39)	missense	probably damaging	1.00
R1763:Paqr7	UTSW	4	134,234,409 (GRCm39)	missense	probably benign	0.10
R1781:Paqr7	UTSW	4	134,234,592 (GRCm39)	splice site	probably null
R1852:Paqr7	UTSW	4	134,234,980 (GRCm39)	missense	probably benign	0.23
R4843:Paqr7	UTSW	4	134,234,278 (GRCm39)	missense	probably damaging	1.00
R5931:Paqr7	UTSW	4	134,235,031 (GRCm39)	missense	probably damaging	0.99
R6426:Paqr7	UTSW	4	134,234,278 (GRCm39)	missense	probably damaging	1.00
R7337:Paqr7	UTSW	4	134,234,431 (GRCm39)	missense	probably benign	0.01
R8103:Paqr7	UTSW	4	134,234,821 (GRCm39)	missense	probably benign	0.00
R9299:Paqr7	UTSW	4	134,234,311 (GRCm39)	missense	probably benign
R9380:Paqr7	UTSW	4	134,234,350 (GRCm39)	missense	probably damaging	1.00
R9470:Paqr7	UTSW	4	134,234,914 (GRCm39)	missense	probably benign	0.01

Posted On

2012-12-06