Mutagenetix > Incidental Mutation

Incidental Mutation 'R9171:Paqr6'

696387

Institutional Source

Beutler Lab

Gene Symbol

Paqr6

Ensembl Gene

ENSMUSG00000041423

Gene Name

progestin and adipoQ receptor family member VI

Synonyms

1500001B10Rik

MMRRC Submission

068976-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9171 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88271891-88275848 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88273066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 46 (T46A)

Ref Sequence

ENSEMBL: ENSMUSP00000114166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001451] [ENSMUST00000075523] [ENSMUST00000107542] [ENSMUST00000107543] [ENSMUST00000147948] [ENSMUST00000147991]

AlphaFold

Q6TCG5

Predicted Effect

probably benign
Transcript: ENSMUST00000001451

SMART Domains

Protein: ENSMUSP00000001451
Gene: ENSMUSG00000001415

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
Pfam:EST1	77	189	1.1e-26	PFAM
Pfam:EST1_DNA_bind	197	427	4.6e-53	PFAM
low complexity region	447	468	N/A	INTRINSIC
low complexity region	481	501	N/A	INTRINSIC
Pfam:EST1_DNA_bind	611	745	3.7e-9	PFAM
coiled coil region	801	842	N/A	INTRINSIC
PINc	856	979	3.23e-15	SMART
low complexity region	990	999	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000075523

SMART Domains

Protein: ENSMUSP00000074965
Gene: ENSMUSG00000074489

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
GLA	31	91	5.9e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107542

SMART Domains

Protein: ENSMUSP00000103166
Gene: ENSMUSG00000074489

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
GLA	31	91	5.9e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107543

SMART Domains

Protein: ENSMUSP00000103167
Gene: ENSMUSG00000074489

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
GLA	31	91	5.9e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147948
AA Change: T46A

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

SMART Domains

Protein: ENSMUSP00000119656
Gene: ENSMUSG00000041423
AA Change: T46A

Domain	Start	End	E-Value	Type
Pfam:HlyIII	59	161	6.8e-18	PFAM
transmembrane domain	180	202	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000147991
AA Change: T46A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114166
Gene: ENSMUSG00000041423
AA Change: T46A

Domain	Start	End	E-Value	Type
Pfam:HlyIII	43	271	5.5e-51	PFAM
transmembrane domain	292	314	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	T	A	15: 41,732,512 (GRCm39)	T185S	possibly damaging	Het
Acad10	T	A	5: 121,767,981 (GRCm39)	H823L	probably benign	Het
Acly	A	G	11: 100,407,657 (GRCm39)	V231A	probably benign	Het
Adamts9	T	C	6: 92,849,381 (GRCm39)	N1026S	probably benign	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Ankrd65	A	G	4: 155,875,800 (GRCm39)	E7G	probably benign	Het
Ap1g2	T	C	14: 55,336,581 (GRCm39)	H771R	probably benign	Het
Atp9a	A	G	2: 168,485,780 (GRCm39)		probably null	Het
Atxn10	T	G	15: 85,277,557 (GRCm39)	H341Q	probably damaging	Het
Cacng1	A	G	11: 107,607,060 (GRCm39)	L53P	probably damaging	Het
Cdh23	T	C	10: 60,161,810 (GRCm39)	N2014S	probably benign	Het
Cma1	T	C	14: 56,181,189 (GRCm39)	N72S	probably benign	Het
Col7a1	G	A	9: 108,807,953 (GRCm39)	G2551D	unknown	Het
Cyp20a1	T	G	1: 60,415,343 (GRCm39)	L323R	probably damaging	Het
Dnah11	A	T	12: 117,894,918 (GRCm39)	V3643E	probably damaging	Het
Dnmt3l	A	C	10: 77,895,518 (GRCm39)	D352A	probably benign	Het
Dock2	A	T	11: 34,589,670 (GRCm39)	N462K	probably benign	Het
Drc1	A	G	5: 30,513,794 (GRCm39)	Q450R	probably benign	Het
Drgx	C	T	14: 32,330,339 (GRCm39)	S152F	probably damaging	Het
Efcab3	A	G	11: 104,800,708 (GRCm39)	T2977A	probably benign	Het
Eid3	C	T	10: 82,703,316 (GRCm39)	T259M	probably damaging	Het
Eif2ak3	T	G	6: 70,835,419 (GRCm39)	D115E	probably damaging	Het
Ezh2	A	C	6: 47,531,134 (GRCm39)	D183E	probably benign	Het
Fam114a1	A	C	5: 65,191,713 (GRCm39)		probably null	Het
Fcho2	G	A	13: 98,891,607 (GRCm39)	T385I	probably benign	Het
Gm6882	C	A	7: 21,161,254 (GRCm39)	E205*	probably null	Het
Hexim2	G	A	11: 103,029,822 (GRCm39)	W291*	probably null	Het
Hnrnpab	A	C	11: 51,492,710 (GRCm39)	S265R	unknown	Het
Hsd17b1	A	G	11: 100,969,832 (GRCm39)	N115D	probably damaging	Het
Ighmbp2	T	C	19: 3,315,641 (GRCm39)	D593G	possibly damaging	Het
Inf2	C	A	12: 112,567,965 (GRCm39)	C172*	probably null	Het
Invs	A	T	4: 48,398,149 (GRCm39)	N445I	possibly damaging	Het
Izumo2	A	G	7: 44,369,184 (GRCm39)	Q186R	probably benign	Het
Kcnj15	T	C	16: 95,097,481 (GRCm39)	F368L	probably benign	Het
Kctd20	A	G	17: 29,185,866 (GRCm39)	D403G	probably damaging	Het
Kmt2c	A	C	5: 25,486,309 (GRCm39)	V4748G	probably damaging	Het
Lrrc37a	A	G	11: 103,393,140 (GRCm39)	S762P	probably benign	Het
Man2c1	C	T	9: 57,044,317 (GRCm39)	Q324*	probably null	Het
Mgam	A	G	6: 40,745,146 (GRCm39)	I1804M	possibly damaging	Het
Mmp28	A	G	11: 83,335,661 (GRCm39)	V279A	probably benign	Het
Mrpl22	T	C	11: 58,070,185 (GRCm39)	V164A	possibly damaging	Het
Obscn	A	T	11: 58,952,329 (GRCm39)	H3913Q	possibly damaging	Het
Or6e1	T	C	14: 54,520,329 (GRCm39)	T8A	probably benign	Het
Or8g50	C	T	9: 39,648,516 (GRCm39)	T135I	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Piezo2	T	C	18: 63,178,550 (GRCm39)	D1789G	probably benign	Het
Pou4f2	T	C	8: 79,162,748 (GRCm39)	T96A	probably benign	Het
Ppp1r12b	A	T	1: 134,801,725 (GRCm39)	V497E	probably benign	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Rsph4a	C	T	10: 33,785,438 (GRCm39)	Q450*	probably null	Het
Sh3d19	C	T	3: 85,990,918 (GRCm39)		probably benign	Het
Slc39a14	T	C	14: 70,547,687 (GRCm39)	T259A	probably benign	Het
Snap91	T	C	9: 86,680,672 (GRCm39)	T404A	probably benign	Het
Sptbn4	A	T	7: 27,141,844 (GRCm39)	C50S	possibly damaging	Het
Stx8	A	C	11: 67,875,471 (GRCm39)	N99H	possibly damaging	Het
Tgfbi	A	T	13: 56,773,526 (GRCm39)	M175L	probably damaging	Het
Themis	C	A	10: 28,658,233 (GRCm39)	T420N	probably benign	Het
Tle1	A	T	4: 72,043,232 (GRCm39)	C536S	possibly damaging	Het
Tprn	A	G	2: 25,152,799 (GRCm39)	S34G	probably benign	Het
Vmn1r80	A	T	7: 11,927,124 (GRCm39)	D78V	possibly damaging	Het

Other mutations in Paqr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02342:Paqr6	APN	3	88,273,491 (GRCm39)	missense	probably damaging	1.00
IGL02622:Paqr6	APN	3	88,273,085 (GRCm39)	missense	probably damaging	1.00
PIT4431001:Paqr6	UTSW	3	88,273,084 (GRCm39)	missense	possibly damaging	0.87
R0883:Paqr6	UTSW	3	88,273,298 (GRCm39)	missense	probably damaging	1.00
R2369:Paqr6	UTSW	3	88,273,260 (GRCm39)	missense	probably damaging	1.00
R4705:Paqr6	UTSW	3	88,273,236 (GRCm39)	missense	probably benign	0.03
R5103:Paqr6	UTSW	3	88,275,024 (GRCm39)	nonsense	probably null
R5922:Paqr6	UTSW	3	88,273,544 (GRCm39)	missense	probably benign	0.00
R6292:Paqr6	UTSW	3	88,275,205 (GRCm39)	missense	probably damaging	1.00
R6364:Paqr6	UTSW	3	88,273,265 (GRCm39)	missense	probably damaging	0.98
R7023:Paqr6	UTSW	3	88,273,353 (GRCm39)	missense	probably damaging	1.00
R9067:Paqr6	UTSW	3	88,273,328 (GRCm39)	missense	probably damaging	1.00
Z1177:Paqr6	UTSW	3	88,273,016 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACCACTGCAATCTCTAGTGC -3'
(R):5'- AGCTAAAGGTGTGCGCACAG -3'

Sequencing Primer
(F):5'- TGTCCTGGAACTCTGTAGACCAG -3'
(R):5'- ACCAGCAGCGGTAGGTGG -3'

Posted On

2022-02-07