Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4618001:Paqr3'

555688

Institutional Source

Beutler Lab

Gene Symbol

Paqr3

Ensembl Gene

ENSMUSG00000055725

Gene Name

progestin and adipoQ receptor family member III

Synonyms

6330415A20Rik, RKTG

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

PIT4618001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97082329-97111596 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97103471 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 131 (H131Q)

Ref Sequence

ENSEMBL: ENSMUSP00000069324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069453] [ENSMUST00000112968] [ENSMUST00000112969] [ENSMUST00000196078]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069453
AA Change: H131Q

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000069324
Gene: ENSMUSG00000055725
AA Change: H131Q

Domain	Start	End	E-Value	Type
Pfam:HlyIII	64	289	3.4e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112968
AA Change: H131Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108592
Gene: ENSMUSG00000055725
AA Change: H131Q

Domain	Start	End	E-Value	Type
Pfam:HlyIII	64	171	1.5e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112969
AA Change: H131Q

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108593
Gene: ENSMUSG00000055725
AA Change: H131Q

Domain	Start	End	E-Value	Type
Pfam:HlyIII	64	289	1.4e-51	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196078
AA Change: H131Q

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142871
Gene: ENSMUSG00000055725
AA Change: H131Q

Domain	Start	End	E-Value	Type
Pfam:HlyIII	64	179	7e-24	PFAM
transmembrane domain	181	203	N/A	INTRINSIC

Coding Region Coverage

1x: 93.4%
3x: 91.0%
10x: 85.9%
20x: 75.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Targeted deletion of this gene causes faster chemical carcinogen-induced skin cell proliferation, higher epidermal thickness, increased number and size of skin papillomas, shorter tumor latency and delayed tumor regression. Heterozygotes develop tumors earlier and more frequently than control mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	T	5: 107,545,709	D64V	probably damaging	Het
Ankdd1a	A	C	9: 65,507,650	I268S	possibly damaging	Het
Atad3a	C	T	4: 155,750,138	R402Q	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Cd55	C	T	1: 130,456,869	V206I	probably benign	Het
Cd8a	A	G	6: 71,373,677	D42G	possibly damaging	Het
Cemip	G	T	7: 83,943,939	F1185L	probably benign	Het
Cfap58	A	G	19: 47,975,514	D527G	probably damaging	Het
Cyp2a12	C	A	7: 27,034,773	S377Y	probably benign	Het
Dapk2	A	G	9: 66,268,686	D289G	probably benign	Het
Efcab6	G	A	15: 83,983,446	A277V	probably benign	Het
Ephx2	A	T	14: 66,102,222	F250L	probably damaging	Het
Flg2	A	T	3: 93,203,781	S1039C	unknown	Het
Gm609	A	G	16: 45,443,934	F87S	probably benign	Het
Gramd1a	A	G	7: 31,132,596	V674A	probably benign	Het
Gtf2a1	A	C	12: 91,567,769	V237G	probably benign	Het
I830077J02Rik	G	A	3: 105,926,570	T90M	probably damaging	Het
Jagn1	T	A	6: 113,447,437	L90H	probably damaging	Het
Mdn1	G	T	4: 32,746,527	A4158S	probably benign	Het
Myh11	G	A	16: 14,201,066	A1839V		Het
Olr1	G	A	6: 129,499,906	A132V	probably damaging	Het
Pde4b	A	T	4: 102,602,812	T397S	probably benign	Het
Pon1	A	G	6: 5,168,349	C353R	probably damaging	Het
Ppie	G	A	4: 123,138,868	T43I	probably null	Het
Prr5l	A	G	2: 101,758,530	F92L	probably damaging	Het
Rai14	T	C	15: 10,575,156	Y601C	probably damaging	Het
Rasal1	A	G	5: 120,670,376	D491G	probably damaging	Het
Rbm12b1	T	A	4: 12,145,441	V471E	probably damaging	Het
Rpusd2	T	C	2: 119,038,452	L452P	possibly damaging	Het
Scgb2b24	A	T	7: 33,738,611	C24S	probably damaging	Het
Slc17a5	C	T	9: 78,538,248	V468M	possibly damaging	Het
Tcp10c	A	G	17: 13,356,510	K117R	possibly damaging	Het
Ubash3b	A	G	9: 41,016,627	S584P	probably benign	Het
Vps13b	C	T	15: 35,709,240	R1778C	probably damaging	Het
Ythdc2	A	G	18: 44,834,598	I220M	probably benign	Het
Zfp474	C	A	18: 52,638,404	T43K	probably damaging	Het
Zscan4-ps3	G	A	7: 11,613,334	M432I	probably benign	Het

Other mutations in Paqr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01459:Paqr3	APN	5	97095937	missense	probably benign
IGL01966:Paqr3	APN	5	97099643	missense	probably benign	0.21
IGL02133:Paqr3	APN	5	97095931	missense	probably benign
R1601:Paqr3	UTSW	5	97111389	missense	probably benign	0.01
R2864:Paqr3	UTSW	5	97099736	missense	possibly damaging	0.65
R3419:Paqr3	UTSW	5	97099700	missense	probably damaging	1.00
R3799:Paqr3	UTSW	5	97111316	missense	probably damaging	1.00
R4352:Paqr3	UTSW	5	97099596	missense	probably benign	0.05
R4368:Paqr3	UTSW	5	97108291	missense	probably damaging	1.00
R4515:Paqr3	UTSW	5	97103361	missense	possibly damaging	0.72
R4583:Paqr3	UTSW	5	97108210	nonsense	probably null
R4647:Paqr3	UTSW	5	97108210	nonsense	probably null
R4648:Paqr3	UTSW	5	97108210	nonsense	probably null
R4811:Paqr3	UTSW	5	97095983	missense	probably benign	0.00
R4855:Paqr3	UTSW	5	97108194	missense	possibly damaging	0.83
R5910:Paqr3	UTSW	5	97096028	splice site	probably null
R6053:Paqr3	UTSW	5	97111278	missense	probably benign	0.12
R6156:Paqr3	UTSW	5	97108269	missense	probably damaging	1.00
R6957:Paqr3	UTSW	5	97108251	missense	possibly damaging	0.48
R6974:Paqr3	UTSW	5	97108287	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTAAACCAGTGCAAGAAGCCC -3'
(R):5'- ACTGGTGAACTCGTGAACCTG -3'

Sequencing Primer
(F):5'- GTGCAAGAAGCCCCAAATCCTATC -3'
(R):5'- TCGTGAACCTGACATCAGTG -3'

Posted On

2019-06-07