Mutagenetix > Incidental Mutation

Incidental Mutation 'R5264:Paqr8'

401575

Institutional Source

Beutler Lab

Gene Symbol

Paqr8

Ensembl Gene

ENSMUSG00000025931

Gene Name

progestin and adipoQ receptor family member VIII

Synonyms

1700019B16Rik, 3110001D06Rik

MMRRC Submission

042832-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5264 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20960830-21009874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21005332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 162 (H162R)

Ref Sequence

ENSEMBL: ENSMUSP00000141054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068880] [ENSMUST00000167119] [ENSMUST00000187651] [ENSMUST00000189400]

AlphaFold

Q80ZE5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068880
AA Change: H162R

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000069127
Gene: ENSMUSG00000025931
AA Change: H162R

Domain	Start	End	E-Value	Type
Pfam:HlyIII	70	297	1.7e-47	PFAM
transmembrane domain	319	341	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167119
AA Change: H162R

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128781
Gene: ENSMUSG00000025931
AA Change: H162R

Domain	Start	End	E-Value	Type
Pfam:HlyIII	70	297	1.2e-53	PFAM
transmembrane domain	319	341	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187651
AA Change: H162R

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140913
Gene: ENSMUSG00000025931
AA Change: H162R

Domain	Start	End	E-Value	Type
Pfam:HlyIII	70	297	1.7e-47	PFAM
transmembrane domain	319	341	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189400
AA Change: H162R

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141054
Gene: ENSMUSG00000025931
AA Change: H162R

Domain	Start	End	E-Value	Type
Pfam:HlyIII	70	297	1.7e-47	PFAM
transmembrane domain	319	341	N/A	INTRINSIC

Meta Mutation Damage Score

0.8878

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ckap2l	A	T	2: 129,127,299 (GRCm39)	M293K	probably benign	Het
Col4a4	C	T	1: 82,471,312 (GRCm39)	G681E	unknown	Het
Dnai7	A	G	6: 145,127,502 (GRCm39)	V469A	probably benign	Het
Efcab7	G	A	4: 99,735,372 (GRCm39)	R132H	probably benign	Het
Elovl4	T	C	9: 83,662,817 (GRCm39)	T239A	probably benign	Het
Fank1	A	G	7: 133,481,621 (GRCm39)	D240G	probably damaging	Het
Fbln5	T	A	12: 101,723,703 (GRCm39)	M346L	possibly damaging	Het
Fbxl21	T	C	13: 56,680,136 (GRCm39)	F174L	probably benign	Het
Gns	A	G	10: 121,216,090 (GRCm39)	D279G	probably benign	Het
Hmcn1	A	G	1: 150,555,265 (GRCm39)	V2502A	probably benign	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Large2	A	G	2: 92,205,088 (GRCm39)		probably benign	Het
Lrrc8b	A	T	5: 105,628,118 (GRCm39)	I155F	probably damaging	Het
Morc2b	T	C	17: 33,357,353 (GRCm39)	I140V	probably benign	Het
Mrgprb5	G	A	7: 47,817,796 (GRCm39)	S313L	probably benign	Het
Nectin4	A	T	1: 171,211,273 (GRCm39)	T266S	probably benign	Het
Nsd1	C	T	13: 55,395,159 (GRCm39)	A1023V	possibly damaging	Het
Or51a39	T	C	7: 102,363,558 (GRCm39)	T21A	probably benign	Het
Pclo	G	A	5: 14,726,937 (GRCm39)		probably benign	Het
Phactr4	T	C	4: 132,098,293 (GRCm39)	D325G	probably damaging	Het
Plcg2	A	T	8: 118,361,532 (GRCm39)	E1255V	possibly damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Polr3b	A	T	10: 84,503,280 (GRCm39)	Q399L	probably benign	Het
Ppp1r35	G	A	5: 137,778,286 (GRCm39)		probably benign	Het
Psd3	A	T	8: 68,166,377 (GRCm39)	D919E	probably benign	Het
Ptgs2	A	G	1: 149,978,481 (GRCm39)	T198A	possibly damaging	Het
Ptpn14	T	C	1: 189,564,997 (GRCm39)		probably null	Het
Ptprk	A	G	10: 28,461,582 (GRCm39)	Y39C	probably damaging	Het
R3hdm4	A	G	10: 79,749,175 (GRCm39)	Y75H	probably benign	Het
Rsph4a	A	G	10: 33,785,379 (GRCm39)	Y430C	probably damaging	Het
Samd12	C	T	15: 53,723,669 (GRCm39)	C8Y	probably damaging	Het
Sema3e	A	C	5: 14,276,662 (GRCm39)	L314F	probably damaging	Het
Sis	A	G	3: 72,857,089 (GRCm39)	F401L	probably damaging	Het
Smoc1	T	A	12: 81,151,474 (GRCm39)	S64T	probably damaging	Het
Socs5	T	A	17: 87,441,769 (GRCm39)	H236Q	probably damaging	Het
Spaca1	C	A	4: 34,049,863 (GRCm39)	R45L	possibly damaging	Het
Spag6	A	G	2: 18,750,324 (GRCm39)	K457E	probably benign	Het
Stat2	T	A	10: 128,116,934 (GRCm39)		probably null	Het
Tcp11l2	A	G	10: 84,449,524 (GRCm39)	I496M	probably damaging	Het
Ttll4	A	G	1: 74,725,535 (GRCm39)	I648V	possibly damaging	Het
Vmn2r67	T	C	7: 84,801,453 (GRCm39)	Y161C	probably damaging	Het
Wnt5b	A	T	6: 119,410,813 (GRCm39)	V171E	probably damaging	Het
Zfp236	T	C	18: 82,648,219 (GRCm39)	K933E	probably damaging	Het
Zfp236	T	C	18: 82,676,198 (GRCm39)	E373G	probably damaging	Het
Zfp617	A	G	8: 72,686,885 (GRCm39)	Y405C	probably damaging	Het
Zranb1	CTGATGATGATG	CTGATGATGATGATG	7: 132,584,556 (GRCm39)		probably benign	Het

Other mutations in Paqr8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01996:Paqr8	APN	1	21,005,628 (GRCm39)	missense	probably damaging	1.00
IGL02720:Paqr8	APN	1	21,005,733 (GRCm39)	nonsense	probably null
LCD18:Paqr8	UTSW	1	20,984,882 (GRCm39)	intron	probably benign
R0190:Paqr8	UTSW	1	21,005,271 (GRCm39)	missense	probably benign	0.00
R0566:Paqr8	UTSW	1	21,005,687 (GRCm39)	missense	possibly damaging	0.63
R1491:Paqr8	UTSW	1	21,005,048 (GRCm39)	missense	probably benign
R1885:Paqr8	UTSW	1	21,005,704 (GRCm39)	missense	probably damaging	1.00
R3195:Paqr8	UTSW	1	21,005,257 (GRCm39)	missense	probably damaging	1.00
R3751:Paqr8	UTSW	1	21,005,856 (GRCm39)	missense	probably benign	0.23
R3752:Paqr8	UTSW	1	21,005,856 (GRCm39)	missense	probably benign	0.23
R3753:Paqr8	UTSW	1	21,005,856 (GRCm39)	missense	probably benign	0.23
R4748:Paqr8	UTSW	1	21,005,637 (GRCm39)	missense	probably benign	0.06
R5207:Paqr8	UTSW	1	21,005,482 (GRCm39)	missense	probably benign	0.00
R5267:Paqr8	UTSW	1	21,004,920 (GRCm39)	missense	probably benign
R7389:Paqr8	UTSW	1	21,005,389 (GRCm39)	missense	probably damaging	1.00
R7468:Paqr8	UTSW	1	21,005,442 (GRCm39)	missense	probably damaging	1.00
R8920:Paqr8	UTSW	1	21,005,245 (GRCm39)	missense	probably damaging	0.99
R9007:Paqr8	UTSW	1	21,005,614 (GRCm39)	missense	possibly damaging	0.87
R9231:Paqr8	UTSW	1	21,005,875 (GRCm39)	missense	probably benign
R9266:Paqr8	UTSW	1	21,005,863 (GRCm39)	missense	probably benign
R9313:Paqr8	UTSW	1	21,005,128 (GRCm39)	nonsense	probably null
Z1176:Paqr8	UTSW	1	21,005,022 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCGGTCCTTTTGCGATTC -3'
(R):5'- ATGTCTAGGACGAAGGCCAG -3'

Sequencing Primer
(F):5'- ATTGCAGTGGGCCTCTCC -3'
(R):5'- GCCCTGCTGGTACTACTTGACAG -3'

Posted On

2016-07-06