Mutagenetix > Incidental Mutation

Incidental Mutation 'R9470:Paqr7'

715410

Institutional Source

Beutler Lab

Gene Symbol

Paqr7

Ensembl Gene

ENSMUSG00000037348

Gene Name

progestin and adipoQ receptor family member VII

Synonyms

mPR, 2310021M12Rik, PGLP, Mpra

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9470 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134224315-134237548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134234914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 257 (V257A)

Ref Sequence

ENSEMBL: ENSMUSP00000080240 (fasta)

Gene Model

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

AlphaFold

Q80ZE4

Predicted Effect

probably benign
Transcript: ENSMUST00000081525
AA Change: V257A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000080240
Gene: ENSMUSG00000037348
AA Change: V257A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000095074
AA Change: V257A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000125932
Gene: ENSMUSG00000037348
AA Change: V257A

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 benign
Transcript: ENSMUST00000125330

SMART Domains

Protein: ENSMUSP00000116485
Gene: ENSMUSG00000037348

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134506

SMART Domains

Protein: ENSMUSP00000120959
Gene: ENSMUSG00000037348

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136171

SMART Domains

Protein: ENSMUSP00000122936
Gene: ENSMUSG00000037348

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	T	A	4: 129,903,074 (GRCm39)	L558Q	probably damaging	Het
Apob	A	G	12: 8,039,219 (GRCm39)	D483G	possibly damaging	Het
Arid1a	T	C	4: 133,413,057 (GRCm39)	D994G	unknown	Het
Barx2	A	T	9: 31,770,044 (GRCm39)	Y161*	probably null	Het
Bmp7	G	T	2: 172,711,960 (GRCm39)	N421K	probably damaging	Het
Bod1l	A	T	5: 41,974,439 (GRCm39)	C2292S	probably damaging	Het
Ces1c	C	T	8: 93,830,746 (GRCm39)		probably null	Het
Clca3b	T	C	3: 144,543,456 (GRCm39)	T458A	probably damaging	Het
Cntnap5a	T	G	1: 116,374,344 (GRCm39)	V952G	probably damaging	Het
Cyp2c54	T	C	19: 40,060,888 (GRCm39)	E85G	probably damaging	Het
Dmxl1	A	G	18: 50,026,777 (GRCm39)	K1962E	possibly damaging	Het
Dnajc13	A	G	9: 104,107,919 (GRCm39)	V254A	probably benign	Het
Dysf	A	T	6: 84,090,352 (GRCm39)	I955F	possibly damaging	Het
Fam184b	A	G	5: 45,741,854 (GRCm39)	S126P	probably damaging	Het
Gapvd1	A	T	2: 34,602,280 (GRCm39)	D622E	possibly damaging	Het
Ggta1	T	C	2: 35,292,767 (GRCm39)	Y180C	probably damaging	Het
Gpr31b	A	G	17: 13,270,845 (GRCm39)	V108A	probably damaging	Het
Kcnu1	A	G	8: 26,409,660 (GRCm39)	Y861C	probably benign	Het
Mov10l1	T	C	15: 88,904,518 (GRCm39)	L799P	probably damaging	Het
Nkx1-1	G	A	5: 33,591,275 (GRCm39)	P16S	unknown	Het
Nos1	T	C	5: 118,064,560 (GRCm39)	L997P	probably damaging	Het
Noxred1	A	G	12: 87,269,829 (GRCm39)	Y301H	possibly damaging	Het
Nup50l	T	C	6: 96,142,474 (GRCm39)	H190R	possibly damaging	Het
Or11g1	T	C	14: 50,651,235 (GRCm39)	V78A	possibly damaging	Het
Or52j3	G	A	7: 102,836,270 (GRCm39)	R154H	probably benign	Het
Or5ak4	A	T	2: 85,161,673 (GRCm39)	S190T	probably damaging	Het
Or5b113	A	G	19: 13,342,115 (GRCm39)	N41S	probably damaging	Het
Or6b6	A	T	7: 106,571,461 (GRCm39)	I30N	probably benign	Het
Parp8	A	T	13: 117,031,292 (GRCm39)	S473R	probably benign	Het
Pcdhb14	A	T	18: 37,581,076 (GRCm39)	T61S	probably benign	Het
Pde11a	G	A	2: 75,821,612 (GRCm39)	A889V	probably benign	Het
Potefam3e	T	A	8: 19,797,809 (GRCm39)	S292T	probably benign	Het
Scart2	A	G	7: 139,827,345 (GRCm39)	T18A	probably benign	Het
Sertad1	T	C	7: 27,188,871 (GRCm39)	L64P	probably damaging	Het
Tmem156	C	T	5: 65,237,531 (GRCm39)	R43K	probably damaging	Het
Tmem82	T	A	4: 141,342,341 (GRCm39)	D287V	probably damaging	Het
Traf1	A	G	2: 34,833,974 (GRCm39)	F381L	probably benign	Het
Trim44	T	C	2: 102,230,651 (GRCm39)	S127G	unknown	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ubap2	G	A	4: 41,195,434 (GRCm39)	A1068V	possibly damaging	Het
Vmn1r47	T	G	6: 89,999,777 (GRCm39)	M303R	probably null	Het
Zc3h12d	T	C	10: 7,743,321 (GRCm39)	S364P	possibly damaging	Het
Zdbf2	T	A	1: 63,344,784 (GRCm39)	N1054K	possibly damaging	Het
Zpbp	A	T	11: 11,358,541 (GRCm39)	I242N	probably damaging	Het

Other mutations in Paqr7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00824:Paqr7	APN	4	134,234,278 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GGCTCCTGCTACAACAAGTAC -3'
(R):5'- CTTCTGATGGAGTTTGCGCC -3'

Sequencing Primer
(F):5'- TACAGCCAGAAGCCGGGTC -3'
(R):5'- ACCAGCTGGCTGAGGAG -3'

Posted On

2022-06-15