Mutagenetix > Incidental Mutation

Incidental Mutation 'R9231:Paqr8'

700209

Institutional Source

Beutler Lab

Gene Symbol

Paqr8

Ensembl Gene

ENSMUSG00000025931

Gene Name

progestin and adipoQ receptor family member VIII

Synonyms

1700019B16Rik, 3110001D06Rik

MMRRC Submission

068985-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9231 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20960830-21009874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21005875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 343 (H343R)

Ref Sequence

ENSEMBL: ENSMUSP00000069127 (fasta)

Gene Model

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

AlphaFold

Q80ZE5

Predicted Effect

probably benign
Transcript: ENSMUST00000068880
AA Change: H343R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000069127
Gene: ENSMUSG00000025931
AA Change: H343R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167119
AA Change: H343R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128781
Gene: ENSMUSG00000025931
AA Change: H343R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000187651
AA Change: H343R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140913
Gene: ENSMUSG00000025931
AA Change: H343R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000189400
AA Change: H343R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141054
Gene: ENSMUSG00000025931
AA Change: H343R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,349,153 (GRCm39)	Q1073R	probably benign	Het
Akirin2	A	G	4: 34,551,072 (GRCm39)	T10A	possibly damaging	Het
Ankrd13a	T	A	5: 114,942,295 (GRCm39)	I526N	probably damaging	Het
Ankrd28	A	G	14: 31,429,234 (GRCm39)	V876A	possibly damaging	Het
Aqp8	T	A	7: 123,061,813 (GRCm39)	M11K	probably benign	Het
Catsper3	T	C	13: 55,946,705 (GRCm39)	I134T	possibly damaging	Het
Cdk9	G	T	2: 32,598,006 (GRCm39)	T350N	probably benign	Het
Ckmt2	G	T	13: 92,011,311 (GRCm39)	H100N	probably damaging	Het
Cnnm4	A	T	1: 36,511,258 (GRCm39)	D162V	probably benign	Het
Cnppd1	T	C	1: 75,116,261 (GRCm39)	H108R	possibly damaging	Het
Col17a1	G	A	19: 47,667,861 (GRCm39)	R139*	probably null	Het
Cyp2c65	C	T	19: 39,060,661 (GRCm39)	P174S	possibly damaging	Het
Dync2li1	A	G	17: 84,935,819 (GRCm39)	S39G	probably null	Het
Ecpas	A	G	4: 58,875,533 (GRCm39)	Y144H	probably damaging	Het
Eif2ak4	A	G	2: 118,271,662 (GRCm39)	D882G	probably benign	Het
Emp1	C	T	6: 135,354,276 (GRCm39)	T23I	probably damaging	Het
Epha8	T	A	4: 136,673,226 (GRCm39)	D186V	probably damaging	Het
Fam169a	T	G	13: 97,254,967 (GRCm39)	D394E	probably benign	Het
Fam20b	T	C	1: 156,509,084 (GRCm39)	D376G	probably benign	Het
Fgfbp3	C	T	19: 36,896,193 (GRCm39)	A142T	possibly damaging	Het
Flg2	C	T	3: 93,109,508 (GRCm39)	S512L	unknown	Het
Fras1	T	A	5: 96,692,904 (GRCm39)	C188S	probably damaging	Het
Galr2	T	C	11: 116,174,335 (GRCm39)	C322R	probably benign	Het
Gbe1	T	A	16: 70,284,989 (GRCm39)	M437K	possibly damaging	Het
Glt1d1	T	A	5: 127,754,341 (GRCm39)	L181Q	probably damaging	Het
Gpr180	G	A	14: 118,395,455 (GRCm39)	V296I	probably damaging	Het
Gucy1a1	C	T	3: 82,013,308 (GRCm39)	E445K	probably damaging	Het
H2-T24	T	C	17: 36,331,363 (GRCm39)	D14G	possibly damaging	Het
Igsf10	G	A	3: 59,243,843 (GRCm39)	R164W	probably damaging	Het
Ing5	T	G	1: 93,739,505 (GRCm39)	D37E	probably benign	Het
Kcnt1	A	G	2: 25,801,074 (GRCm39)	T1051A	probably benign	Het
Kif1b	A	T	4: 149,275,652 (GRCm39)	S1420T	possibly damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Kmt2a	A	G	9: 44,759,912 (GRCm39)	F646L	probably damaging	Het
Lrp1	T	C	10: 127,382,268 (GRCm39)	D3731G	probably benign	Het
Mif	T	A	10: 75,695,370 (GRCm39)	I97F	probably damaging	Het
Mpp4	A	T	1: 59,163,833 (GRCm39)	V507D	probably damaging	Het
Mrpl1	C	A	5: 96,361,719 (GRCm39)	N35K	probably benign	Het
Naf1	CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	8: 67,313,146 (GRCm39)		probably benign	Het
Nat8f6	A	G	6: 85,785,630 (GRCm39)	V173A	probably damaging	Het
Ninl	C	T	2: 150,792,129 (GRCm39)	R798Q	probably benign	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Or10a49	T	C	7: 108,467,840 (GRCm39)	I174V	possibly damaging	Het
Or1af1	A	T	2: 37,109,989 (GRCm39)	M163L	possibly damaging	Het
Parp14	A	G	16: 35,661,583 (GRCm39)	V1455A	probably damaging	Het
Parp3	A	T	9: 106,350,891 (GRCm39)	S334T	probably benign	Het
Pcbp2	T	G	15: 102,394,477 (GRCm39)		probably null	Het
Perm1	A	T	4: 156,302,234 (GRCm39)	E259D	probably damaging	Het
Plce1	A	T	19: 38,705,040 (GRCm39)	N815I	probably benign	Het
Plxnb1	A	T	9: 108,934,286 (GRCm39)	D838V	possibly damaging	Het
Prdm12	A	G	2: 31,530,265 (GRCm39)	D52G	probably benign	Het
Rac2	T	C	15: 78,450,223 (GRCm39)	N39S	probably damaging	Het
Smchd1	A	T	17: 71,672,084 (GRCm39)	C1657S	probably benign	Het
Sugct	T	A	13: 17,627,071 (GRCm39)	T261S	probably damaging	Het
Tbc1d10a	T	C	11: 4,164,885 (GRCm39)	L446P	probably damaging	Het
Tcp1	T	A	17: 13,136,761 (GRCm39)	D47E	probably damaging	Het
Tenm3	T	A	8: 48,689,231 (GRCm39)	T2119S	probably damaging	Het
Tent5a	T	G	9: 85,208,388 (GRCm39)	D145A	possibly damaging	Het
Tmem132b	T	C	5: 125,860,531 (GRCm39)	M592T	probably damaging	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Vinac1	A	T	2: 128,879,340 (GRCm39)	I862N	unknown	Het
Washc2	C	A	6: 116,235,899 (GRCm39)	D1123E	probably benign	Het
Wee2	A	G	6: 40,440,089 (GRCm39)	I412M	probably damaging	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
R5264:Paqr8	UTSW	1	21,005,332 (GRCm39)	missense	possibly damaging	0.93
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
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'- GCCACGGACATCAAATCTTC -3'
(R):5'- TGGCCTGCATTTGAAATTCC -3'

Sequencing Primer
(F):5'- GGACATCAAATCTTCCACGCCTTC -3'
(R):5'- GGAAATCAAACCCTGGGCTTTCTG -3'

Posted On

2022-02-07