Mutagenetix > Incidental Mutation

Incidental Mutation 'R5910:Paqr3'

460912

Institutional Source

Beutler Lab

Gene Symbol

Paqr3

Ensembl Gene

ENSMUSG00000055725

Gene Name

progestin and adipoQ receptor family member III

Synonyms

6330415A20Rik, RKTG

MMRRC Submission

044107-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R5910 (G1)

Quality Score

184

Status

Validated

Chromosome

Chromosomal Location

97230188-97259455 bp(-) (GRCm39)

Type of Mutation

splice site (1496 bp from exon)

DNA Base Change (assembly)

T to C at 97243887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035635] [ENSMUST00000069453] [ENSMUST00000112969] [ENSMUST00000196078]

AlphaFold

Q6TCG8

Predicted Effect

probably benign
Transcript: ENSMUST00000035635

SMART Domains

Protein: ENSMUSP00000037970
Gene: ENSMUSG00000034663

Domain	Start	End	E-Value	Type
low complexity region	12	37	N/A	INTRINSIC
Pfam:Pkinase_Tyr	48	309	8.9e-27	PFAM
Pfam:Pkinase	48	311	1.6e-43	PFAM
coiled coil region	455	490	N/A	INTRINSIC
low complexity region	511	538	N/A	INTRINSIC
low complexity region	624	636	N/A	INTRINSIC
low complexity region	653	664	N/A	INTRINSIC
low complexity region	729	753	N/A	INTRINSIC
low complexity region	779	794	N/A	INTRINSIC
low complexity region	838	852	N/A	INTRINSIC
Pfam:BMP2K_C	873	1138	7.9e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000069453
AA Change: I276V

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

SMART Domains

Protein: ENSMUSP00000069324
Gene: ENSMUSG00000055725
AA Change: I276V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000112969
AA Change: I276V

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

SMART Domains

Protein: ENSMUSP00000108593
Gene: ENSMUSG00000055725
AA Change: I276V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126585

Predicted Effect

probably null
Transcript: ENSMUST00000196078

SMART Domains

Protein: ENSMUSP00000142871
Gene: ENSMUSG00000055725

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

Meta Mutation Damage Score

0.0962

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

95% (93/98)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,645,076 (GRCm39)	N976D	probably damaging	Het
Adamts1	G	A	16: 85,599,037 (GRCm39)	R188W	probably benign	Het
Adcy4	A	T	14: 56,016,470 (GRCm39)	V327D	probably damaging	Het
Alg8	T	C	7: 97,039,493 (GRCm39)	I408T	possibly damaging	Het
Ankib1	T	C	5: 3,743,217 (GRCm39)	S933G	probably benign	Het
Ap2a2	A	G	7: 141,178,691 (GRCm39)	D106G	probably damaging	Het
Arhgap22	A	T	14: 33,088,572 (GRCm39)	H351L	probably damaging	Het
Arhgef2	A	G	3: 88,542,327 (GRCm39)	Y310C	probably damaging	Het
Atm	A	T	9: 53,359,380 (GRCm39)	S2804R	probably damaging	Het
Baz2b	A	G	2: 59,807,770 (GRCm39)	L163P	possibly damaging	Het
Bcl2l12	C	T	7: 44,645,967 (GRCm39)		probably null	Het
Cdh23	A	G	10: 60,213,600 (GRCm39)	V1495A	possibly damaging	Het
Cep78	A	G	19: 15,946,492 (GRCm39)	S447P	possibly damaging	Het
Cfap43	G	A	19: 47,768,710 (GRCm39)	T778I	possibly damaging	Het
Cfap54	A	T	10: 92,901,043 (GRCm39)	N170K	probably damaging	Het
Cmya5	A	T	13: 93,229,151 (GRCm39)	L1979Q	probably damaging	Het
Col15a1	A	T	4: 47,289,514 (GRCm39)	E846D	probably damaging	Het
Col5a1	A	G	2: 27,926,900 (GRCm39)	K308E	possibly damaging	Het
Dcst1	T	A	3: 89,257,731 (GRCm39)	T680S	possibly damaging	Het
Dsp	T	C	13: 38,376,445 (GRCm39)	L1410P	possibly damaging	Het
Edem3	T	A	1: 151,646,578 (GRCm39)		probably null	Het
Efcab3	A	T	11: 104,581,760 (GRCm39)	E34V	probably benign	Het
Eif4e2	T	A	1: 87,148,696 (GRCm39)	Y64N	probably damaging	Het
Fcgbp	C	T	7: 27,784,928 (GRCm39)		probably benign	Het
Gm7275	A	T	16: 47,893,826 (GRCm39)		noncoding transcript	Het
Grin3b	G	T	10: 79,808,855 (GRCm39)	V202L	probably benign	Het
Gsdmc4	G	A	15: 63,767,101 (GRCm39)	S223F	possibly damaging	Het
H2bc14	A	G	13: 21,906,470 (GRCm39)	N68S	probably benign	Het
Hbp1	T	C	12: 31,987,651 (GRCm39)	H183R	probably benign	Het
Hectd3	A	G	4: 116,859,331 (GRCm39)	M652V	probably benign	Het
Hmgxb4	T	C	8: 75,726,193 (GRCm39)	F13L	probably benign	Het
Hnrnpab	T	C	11: 51,492,281 (GRCm39)	K271R	probably benign	Het
Ilvbl	A	T	10: 78,412,947 (GRCm39)	K156N	probably benign	Het
Iqce	A	T	5: 140,687,973 (GRCm39)		probably benign	Het
Itpr2	C	A	6: 146,231,069 (GRCm39)	V1194L	probably benign	Het
Kif18b	A	G	11: 102,804,370 (GRCm39)	F384L	probably benign	Het
Klf14	A	G	6: 30,934,774 (GRCm39)	Y287H	probably benign	Het
Klhl6	A	G	16: 19,775,844 (GRCm39)	M238T	probably benign	Het
Lbp	G	A	2: 158,166,477 (GRCm39)	V344I	probably benign	Het
Lrp12	T	C	15: 39,739,439 (GRCm39)		probably null	Het
Mapk7	T	A	11: 61,384,447 (GRCm39)	M1L	probably benign	Het
Muc5b	A	G	7: 141,415,048 (GRCm39)	T2665A	possibly damaging	Het
Ncln	A	T	10: 81,331,912 (GRCm39)		probably null	Het
Nfxl1	T	C	5: 72,697,708 (GRCm39)	R347G	probably benign	Het
Npnt	C	A	3: 132,612,179 (GRCm39)	C231F	probably damaging	Het
Nrap	T	A	19: 56,330,743 (GRCm39)	H1070L	probably benign	Het
Nrxn1	G	T	17: 91,011,746 (GRCm39)	Y294*	probably null	Het
Or4c126	A	G	2: 89,823,782 (GRCm39)	D15G	probably benign	Het
Or9s27	T	C	1: 92,516,429 (GRCm39)	Y126H	probably damaging	Het
Otog	A	G	7: 45,948,022 (GRCm39)	H2341R	possibly damaging	Het
Pcdhb11	T	C	18: 37,556,796 (GRCm39)	F709L	probably benign	Het
Phf12	G	A	11: 77,918,224 (GRCm39)	R812Q	probably damaging	Het
Polr2a	A	T	11: 69,637,696 (GRCm39)	L216Q	probably damaging	Het
Polrmt	A	G	10: 79,579,331 (GRCm39)	L140P	probably benign	Het
Pou2f3	C	T	9: 43,045,769 (GRCm39)		probably null	Het
Prkcd	A	T	14: 30,317,938 (GRCm39)	N548K	probably benign	Het
Pygb	A	G	2: 150,657,620 (GRCm39)	D361G	probably benign	Het
Rpl9	A	T	5: 65,546,044 (GRCm39)		probably benign	Het
Rubcnl	A	T	14: 75,272,912 (GRCm39)	T211S	probably benign	Het
Rusc1	C	T	3: 88,999,027 (GRCm39)	G252S	probably benign	Het
Scnn1g	A	G	7: 121,337,318 (GRCm39)	T60A	probably damaging	Het
Sipa1l2	T	G	8: 126,218,423 (GRCm39)	T305P	probably benign	Het
Slc18b1	T	A	10: 23,700,565 (GRCm39)		probably benign	Het
Sp100	G	A	1: 85,608,861 (GRCm39)		probably null	Het
Tekt5	A	T	16: 10,205,017 (GRCm39)		probably null	Het
Tlnrd1	T	A	7: 83,533,693 (GRCm39)		probably benign	Het
Tpcn1	A	G	5: 120,685,462 (GRCm39)		probably benign	Het
Tpcn2	T	C	7: 144,814,719 (GRCm39)	I461V	probably benign	Het
Traf3ip1	A	G	1: 91,455,467 (GRCm39)	K643E	probably damaging	Het
Trim33	T	C	3: 103,251,892 (GRCm39)	C914R	probably damaging	Het
Trip11	G	A	12: 101,849,738 (GRCm39)	T1442I	probably damaging	Het
Ttll6	A	G	11: 96,026,415 (GRCm39)	M107V	possibly damaging	Het
Uap1l1	A	G	2: 25,253,445 (GRCm39)		probably benign	Het
Ube3b	T	A	5: 114,553,370 (GRCm39)	I914N	possibly damaging	Het
Usp24	A	G	4: 106,237,665 (GRCm39)	T1107A	probably damaging	Het
Usp40	A	T	1: 87,896,122 (GRCm39)	C811*	probably null	Het
Vps11	T	C	9: 44,270,432 (GRCm39)		probably null	Het
Wdr91	A	T	6: 34,868,422 (GRCm39)	I433N	possibly damaging	Het
Zfp770	G	C	2: 114,026,713 (GRCm39)	S452*	probably null	Het

Other mutations in Paqr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01459:Paqr3	APN	5	97,243,796 (GRCm39)	missense	probably benign
IGL01966:Paqr3	APN	5	97,247,502 (GRCm39)	missense	probably benign	0.21
IGL02133:Paqr3	APN	5	97,243,790 (GRCm39)	missense	probably benign
PIT4618001:Paqr3	UTSW	5	97,251,330 (GRCm39)	missense	possibly damaging	0.82
R1601:Paqr3	UTSW	5	97,259,248 (GRCm39)	missense	probably benign	0.01
R2864:Paqr3	UTSW	5	97,247,595 (GRCm39)	missense	possibly damaging	0.65
R3419:Paqr3	UTSW	5	97,247,559 (GRCm39)	missense	probably damaging	1.00
R3799:Paqr3	UTSW	5	97,259,175 (GRCm39)	missense	probably damaging	1.00
R4352:Paqr3	UTSW	5	97,247,455 (GRCm39)	missense	probably benign	0.05
R4368:Paqr3	UTSW	5	97,256,150 (GRCm39)	missense	probably damaging	1.00
R4515:Paqr3	UTSW	5	97,251,220 (GRCm39)	missense	possibly damaging	0.72
R4583:Paqr3	UTSW	5	97,256,069 (GRCm39)	nonsense	probably null
R4647:Paqr3	UTSW	5	97,256,069 (GRCm39)	nonsense	probably null
R4648:Paqr3	UTSW	5	97,256,069 (GRCm39)	nonsense	probably null
R4811:Paqr3	UTSW	5	97,243,842 (GRCm39)	missense	probably benign	0.00
R4855:Paqr3	UTSW	5	97,256,053 (GRCm39)	missense	possibly damaging	0.83
R6053:Paqr3	UTSW	5	97,259,137 (GRCm39)	missense	probably benign	0.12
R6156:Paqr3	UTSW	5	97,256,128 (GRCm39)	missense	probably damaging	1.00
R6957:Paqr3	UTSW	5	97,256,110 (GRCm39)	missense	possibly damaging	0.48
R6974:Paqr3	UTSW	5	97,256,146 (GRCm39)	missense	probably damaging	1.00
R9201:Paqr3	UTSW	5	97,245,365 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- GGTCTAAACTTCCCCACTGTATATTG -3'
(R):5'- CAGTTGGGAGCAGCATTTCTG -3'

Sequencing Primer
(F):5'- TGCTGAATGACTGGATTCACC -3'
(R):5'- GGGAGCAGCATTTCTGAAATTAAC -3'

Posted On

2017-02-28