Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02063:Paqr4'

283300

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Paqr4

Ensembl Gene

ENSMUSG00000023909

Gene Name

progestin and adipoQ receptor family member IV

Synonyms

1500004C10Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.436) question?

Stock #

IGL02063

Quality Score

Status

Chromosome

Chromosomal Location

23955160-23959841 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 23958886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 38 (C38*)

Ref Sequence

ENSEMBL: ENSMUSP00000024702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024701] [ENSMUST00000024702] [ENSMUST00000046525]

AlphaFold

Q9JJE4

Predicted Effect

probably benign
Transcript: ENSMUST00000024701

SMART Domains

Protein: ENSMUSP00000024701
Gene: ENSMUSG00000023908

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	101	347	3.4e-22	PFAM
Pfam:Pkinase	101	350	1.2e-47	PFAM
Pfam:Kinase-like	205	334	6.8e-11	PFAM
low complexity region	397	412	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000024702
AA Change: C38*

SMART Domains

Protein: ENSMUSP00000024702
Gene: ENSMUSG00000023909
AA Change: C38*

Domain	Start	End	E-Value	Type
Pfam:HlyIII	43	254	1e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000046525

SMART Domains

Protein: ENSMUSP00000046369
Gene: ENSMUSG00000040680

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
KR	33	120	2.44e-18	SMART
Pfam:WSC	123	204	1.3e-20	PFAM
CUB	218	325	8.04e-15	SMART
Blast:CUB	351	422	8e-6	BLAST
low complexity region	446	461	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181291

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2b	A	G	12: 105,614,581 (GRCm39)	Y1117H	possibly damaging	Het
B020004C17Rik	A	G	14: 57,253,480 (GRCm39)	R24G	probably damaging	Het
BC005624	A	G	2: 30,868,946 (GRCm39)	M76T	probably benign	Het
Blm	G	T	7: 80,159,167 (GRCm39)	S323*	probably null	Het
Card19	C	A	13: 49,356,607 (GRCm39)	G181*	probably null	Het
Cilp2	T	C	8: 70,335,515 (GRCm39)	I494M	probably damaging	Het
Col5a2	A	G	1: 45,442,579 (GRCm39)		probably null	Het
Col6a4	T	C	9: 105,934,617 (GRCm39)	D1431G	probably benign	Het
Cped1	G	A	6: 22,138,701 (GRCm39)	C560Y	probably damaging	Het
Cyfip1	T	C	7: 55,576,096 (GRCm39)	S1091P	probably damaging	Het
Ddx24	A	G	12: 103,384,461 (GRCm39)	I466T	probably damaging	Het
Dlg2	T	A	7: 91,459,684 (GRCm39)		probably benign	Het
Esf1	C	A	2: 140,006,377 (GRCm39)	D257Y	possibly damaging	Het
Fgfr2	A	G	7: 129,769,485 (GRCm39)	F634S	probably damaging	Het
Flywch2	A	G	17: 23,996,081 (GRCm39)		probably benign	Het
Gbp10	A	T	5: 105,383,906 (GRCm39)	I32N	possibly damaging	Het
Gli3	A	G	13: 15,900,957 (GRCm39)	D1448G	possibly damaging	Het
Gm10335	T	C	10: 14,399,147 (GRCm39)		probably benign	Het
Golga5	A	T	12: 102,438,418 (GRCm39)	E44D	probably benign	Het
H2-M10.1	C	T	17: 36,634,901 (GRCm39)		probably benign	Het
Ino80b	A	T	6: 83,101,143 (GRCm39)	D141E	probably damaging	Het
Itpr3	A	G	17: 27,338,997 (GRCm39)	I2593V	probably benign	Het
Krt73	C	T	15: 101,704,204 (GRCm39)		probably benign	Het
Loxl4	G	T	19: 42,596,778 (GRCm39)	L78I	probably benign	Het
Mbd5	A	T	2: 49,164,779 (GRCm39)	N360I	probably damaging	Het
Nfat5	A	T	8: 108,088,450 (GRCm39)	M495L	probably benign	Het
Nrxn3	A	T	12: 88,762,565 (GRCm39)	E204V	possibly damaging	Het
Or8k21	G	T	2: 86,145,137 (GRCm39)	F164L	possibly damaging	Het
Pcdhb13	T	A	18: 37,577,282 (GRCm39)	N553K	probably damaging	Het
Pcdhb9	T	A	18: 37,534,810 (GRCm39)	M268K	probably benign	Het
Pdap1	A	T	5: 145,071,869 (GRCm39)		probably benign	Het
Phf2	A	T	13: 48,975,118 (GRCm39)	Y281N	unknown	Het
Phka2	T	A	X: 159,347,209 (GRCm39)	I664N	possibly damaging	Het
Plekha7	A	T	7: 115,739,936 (GRCm39)	D762E	possibly damaging	Het
Plekhg4	T	A	8: 106,105,884 (GRCm39)		probably benign	Het
Ppfia2	A	T	10: 106,740,706 (GRCm39)	Q1006L	probably null	Het
Pramel12	C	A	4: 143,144,421 (GRCm39)	Q256K	probably benign	Het
Prmt5	G	A	14: 54,748,477 (GRCm39)	Q197*	probably null	Het
Prodh	A	T	16: 17,897,049 (GRCm39)		probably null	Het
Ptgr3	T	A	18: 84,113,390 (GRCm39)	Y355*	probably null	Het
Rnft2	A	G	5: 118,380,587 (GRCm39)		probably benign	Het
Rp1l1	G	T	14: 64,266,985 (GRCm39)	S857I	probably damaging	Het
Samd9l	A	G	6: 3,372,992 (GRCm39)	F1423S	probably damaging	Het
Scn3a	A	G	2: 65,291,854 (GRCm39)	Y1631H	probably damaging	Het
Slc22a5	A	T	11: 53,765,899 (GRCm39)	I229K	probably damaging	Het
Slco1a7	T	C	6: 141,684,615 (GRCm39)	D280G	probably benign	Het
Snd1	T	A	6: 28,526,220 (GRCm39)		probably benign	Het
Srrm1	G	T	4: 135,074,518 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,098,874 (GRCm39)	V5252A	probably damaging	Het
Tek	A	G	4: 94,627,882 (GRCm39)	D2G	probably benign	Het
Uba1	T	C	X: 20,545,964 (GRCm39)	S803P	probably damaging	Het
Uggt2	A	G	14: 119,326,605 (GRCm39)	I202T	possibly damaging	Het
Umodl1	A	T	17: 31,206,888 (GRCm39)	I760F	probably benign	Het
Vgll1	A	G	X: 56,144,569 (GRCm39)		probably benign	Het
Zfp236	A	G	18: 82,676,276 (GRCm39)	V347A	probably benign	Het
Zswim9	T	C	7: 12,994,608 (GRCm39)	E516G	probably damaging	Het

Other mutations in Paqr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Paqr4	APN	17	23,956,544 (GRCm39)	missense	possibly damaging	0.95
R0212:Paqr4	UTSW	17	23,957,294 (GRCm39)	missense	probably benign	0.00
R1940:Paqr4	UTSW	17	23,956,638 (GRCm39)	missense	probably damaging	1.00
R5269:Paqr4	UTSW	17	23,957,187 (GRCm39)	missense	probably damaging	1.00
R5987:Paqr4	UTSW	17	23,958,832 (GRCm39)	critical splice donor site	probably null
R6039:Paqr4	UTSW	17	23,958,968 (GRCm39)	missense	probably damaging	0.98
R6039:Paqr4	UTSW	17	23,958,968 (GRCm39)	missense	probably damaging	0.98
R6960:Paqr4	UTSW	17	23,956,697 (GRCm39)	missense	probably benign	0.17
R9439:Paqr4	UTSW	17	23,958,939 (GRCm39)	missense	probably damaging	1.00
R9623:Paqr4	UTSW	17	23,956,656 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16