Mutagenetix > Incidental Mutation

Incidental Mutation 'R4563:Paqr9'

343203

Institutional Source

Beutler Lab

Gene Symbol

Paqr9

Ensembl Gene

ENSMUSG00000064225

Gene Name

progestin and adipoQ receptor family member IX

Synonyms

C730029A08Rik, 1700020G04Rik

MMRRC Submission

041788-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R4563 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95441710-95450076 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95442997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 329 (E329G)

Ref Sequence

ENSEMBL: ENSMUSP00000078547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079597]

AlphaFold

Q6TCG2

Predicted Effect

probably benign
Transcript: ENSMUST00000079597
AA Change: E329G

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000078547
Gene: ENSMUSG00000064225
AA Change: E329G

Domain	Start	End	E-Value	Type
low complexity region	15	39	N/A	INTRINSIC
Pfam:HlyIII	76	324	2.1e-35	PFAM
transmembrane domain	340	362	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217220

Meta Mutation Damage Score

0.0591

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	G	12: 21,382,089 (GRCm39)	C591R	probably damaging	Het
Bace2	G	A	16: 97,223,180 (GRCm39)	R368Q	probably damaging	Het
Calm5	C	A	13: 3,904,402 (GRCm39)	S32*	probably null	Het
Ccdc198	T	A	14: 49,471,955 (GRCm39)	M152L	probably benign	Het
Cln3	G	T	7: 126,171,730 (GRCm39)	S346R	probably damaging	Het
G6pd2	G	A	5: 61,967,686 (GRCm39)	R487H	possibly damaging	Het
Glipr2	A	T	4: 43,977,600 (GRCm39)	N77Y	probably damaging	Het
Huwe1	A	T	X: 150,646,955 (GRCm39)	I682F	probably damaging	Het
Kbtbd2	A	G	6: 56,766,264 (GRCm39)	V37A	probably benign	Het
Kdm7a	C	T	6: 39,129,757 (GRCm39)	R473Q	probably damaging	Het
Lrrc71	T	A	3: 87,652,715 (GRCm39)		probably benign	Het
Mcm3	G	T	1: 20,879,869 (GRCm39)	R543S	probably benign	Het
Mgat4a	T	C	1: 37,505,660 (GRCm39)	D43G	probably damaging	Het
Mphosph8	T	C	14: 56,928,457 (GRCm39)	Y703H	probably benign	Het
Ncf2	T	C	1: 152,683,976 (GRCm39)		probably benign	Het
Nek6	T	G	2: 38,475,305 (GRCm39)	V282G	probably damaging	Het
Nhlrc1	T	C	13: 47,167,666 (GRCm39)	D197G	possibly damaging	Het
Nup93	G	T	8: 95,034,520 (GRCm39)	V612F	probably damaging	Het
Or5be3	C	T	2: 86,864,028 (GRCm39)	C179Y	probably damaging	Het
Or9i14	A	G	19: 13,792,646 (GRCm39)	F103L	probably benign	Het
Pafah1b2	T	C	9: 45,887,404 (GRCm39)	K36E	probably damaging	Het
Pclo	A	G	5: 14,571,383 (GRCm39)	Q256R	probably damaging	Het
Pctp	A	T	11: 89,879,578 (GRCm39)	D94E	probably benign	Het
Pde8a	T	A	7: 80,958,568 (GRCm39)	Y315*	probably null	Het
Pex14	A	T	4: 149,126,225 (GRCm39)	V41D	probably damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Rasal2	T	C	1: 157,003,561 (GRCm39)	K366R	probably damaging	Het
Rprd1a	A	C	18: 24,640,160 (GRCm39)		probably null	Het
Senp8	A	C	9: 59,657,546 (GRCm39)	M1R	probably null	Het
Slc49a4	T	C	16: 35,518,312 (GRCm39)	Y467C	probably damaging	Het
Slco1b2	A	G	6: 141,616,893 (GRCm39)	T409A	probably benign	Het
Strc	T	C	2: 121,196,286 (GRCm39)	T1581A	probably benign	Het
Tmem117	T	C	15: 94,536,035 (GRCm39)	I23T	possibly damaging	Het
Ttc13	A	G	8: 125,402,016 (GRCm39)	L657P	probably damaging	Het
Ube4b	A	G	4: 149,443,622 (GRCm39)		probably benign	Het
Vmn1r125	A	G	7: 21,006,308 (GRCm39)	T69A	probably damaging	Het

Other mutations in Paqr9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02506:Paqr9	APN	9	95,442,748 (GRCm39)	missense	probably benign
IGL02601:Paqr9	APN	9	95,442,877 (GRCm39)	missense	probably damaging	0.99
R0845:Paqr9	UTSW	9	95,442,793 (GRCm39)	missense	probably damaging	1.00
R1553:Paqr9	UTSW	9	95,442,262 (GRCm39)	missense	probably damaging	0.99
R2129:Paqr9	UTSW	9	95,443,122 (GRCm39)	missense	probably benign
R2171:Paqr9	UTSW	9	95,442,931 (GRCm39)	missense	probably damaging	0.99
R4118:Paqr9	UTSW	9	95,442,952 (GRCm39)	missense	probably damaging	0.98
R4840:Paqr9	UTSW	9	95,442,723 (GRCm39)	missense	probably damaging	0.98
R5202:Paqr9	UTSW	9	95,442,163 (GRCm39)	missense	probably damaging	0.99
R6176:Paqr9	UTSW	9	95,442,828 (GRCm39)	missense	possibly damaging	0.64
R6750:Paqr9	UTSW	9	95,443,050 (GRCm39)	missense	probably damaging	0.99
R6885:Paqr9	UTSW	9	95,442,096 (GRCm39)	missense	probably benign	0.00
R7247:Paqr9	UTSW	9	95,442,246 (GRCm39)	missense	possibly damaging	0.95
R7719:Paqr9	UTSW	9	95,442,829 (GRCm39)	missense	possibly damaging	0.90
R7954:Paqr9	UTSW	9	95,442,681 (GRCm39)	missense	probably damaging	1.00
R8977:Paqr9	UTSW	9	95,442,888 (GRCm39)	missense	possibly damaging	0.67
X0027:Paqr9	UTSW	9	95,443,069 (GRCm39)	missense	probably damaging	1.00
Z1176:Paqr9	UTSW	9	95,442,359 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- CCTGCCCCATTATGCTAGAGAG -3'
(R):5'- AACCTTTCCCTAGTGGCCTG -3'

Sequencing Primer
(F):5'- AGCTGGCTCTTCGACCTG -3'
(R):5'- GCAAACCGGTGGGCAAACC -3'

Posted On

2015-09-24