Mutagenetix > Incidental Mutation

Incidental Mutation 'R3753:Paqr8'

271288

Institutional Source

Beutler Lab

Gene Symbol

Paqr8

Ensembl Gene

ENSMUSG00000025931

Gene Name

progestin and adipoQ receptor family member VIII

Synonyms

1700019B16Rik, 3110001D06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3753 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20960830-21009874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21005856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 337 (T337A)

Ref Sequence

ENSEMBL: ENSMUSP00000141054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068880] [ENSMUST00000167119] [ENSMUST00000187651] [ENSMUST00000189400]

AlphaFold

Q80ZE5

Predicted Effect

probably benign
Transcript: ENSMUST00000068880
AA Change: T337A

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000069127
Gene: ENSMUSG00000025931
AA Change: T337A

Domain	Start	End	E-Value	Type
Pfam:HlyIII	70	297	1.7e-47	PFAM
transmembrane domain	319	341	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167119
AA Change: T337A

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128781
Gene: ENSMUSG00000025931
AA Change: T337A

Domain	Start	End	E-Value	Type
Pfam:HlyIII	70	297	1.2e-53	PFAM
transmembrane domain	319	341	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187651
AA Change: T337A

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140913
Gene: ENSMUSG00000025931
AA Change: T337A

Domain	Start	End	E-Value	Type
Pfam:HlyIII	70	297	1.7e-47	PFAM
transmembrane domain	319	341	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189400
AA Change: T337A

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000141054
Gene: ENSMUSG00000025931
AA Change: T337A

Domain	Start	End	E-Value	Type
Pfam:HlyIII	70	297	1.7e-47	PFAM
transmembrane domain	319	341	N/A	INTRINSIC

Meta Mutation Damage Score

0.1328

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,121,677 (GRCm39)	I74N	probably damaging	Het
Acp7	T	A	7: 28,316,085 (GRCm39)	Y167F	probably damaging	Het
Acsl1	A	T	8: 46,966,602 (GRCm39)		probably benign	Het
Bcr	T	C	10: 74,971,772 (GRCm39)	V599A	probably benign	Het
Brd1	C	T	15: 88,573,821 (GRCm39)	V1093I	possibly damaging	Het
Cep152	A	G	2: 125,466,972 (GRCm39)		probably benign	Het
Cstf2t	T	G	19: 31,060,695 (GRCm39)	L77R	probably damaging	Het
Drd3	C	T	16: 43,637,466 (GRCm39)	R254W	probably damaging	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Fam187a	C	T	11: 102,776,675 (GRCm39)	P160S	probably benign	Het
Fat1	G	A	8: 45,478,516 (GRCm39)	E2521K	probably damaging	Het
Fbln1	T	A	15: 85,111,279 (GRCm39)	C144*	probably null	Het
Flii	T	C	11: 60,606,306 (GRCm39)	D1128G	probably benign	Het
Gask1a	A	T	9: 121,794,899 (GRCm39)	D351V	probably damaging	Het
Gata3	T	A	2: 9,873,651 (GRCm39)	H281L	probably benign	Het
Iqsec3	C	T	6: 121,353,214 (GRCm39)	A1135T	probably benign	Het
Irak4	T	C	15: 94,459,476 (GRCm39)	I364T	probably damaging	Het
Mib2	A	G	4: 155,739,741 (GRCm39)	F810S	probably damaging	Het
Nbn	G	A	4: 15,964,269 (GRCm39)	V115I	probably damaging	Het
Nfyc	G	T	4: 120,622,527 (GRCm39)		probably benign	Het
Nup210	A	T	6: 90,998,377 (GRCm39)		probably null	Het
Or2g1	T	C	17: 38,107,123 (GRCm39)	S263P	possibly damaging	Het
Or2t48	C	T	11: 58,420,516 (GRCm39)	A99T	probably benign	Het
Or8j3b	C	T	2: 86,205,259 (GRCm39)	V166I	possibly damaging	Het
Plce1	T	C	19: 38,640,278 (GRCm39)	V508A	probably benign	Het
Prmt2	G	T	10: 76,061,137 (GRCm39)	D116E	probably benign	Het
Prss51	T	A	14: 64,333,624 (GRCm39)		probably benign	Het
Prune2	T	A	19: 17,102,818 (GRCm39)	V2659D	probably benign	Het
Ptpn3	C	T	4: 57,270,144 (GRCm39)	R6H	probably damaging	Het
Ramac	C	T	7: 81,417,395 (GRCm39)	R32C	probably damaging	Het
Rdh12	C	T	12: 79,260,446 (GRCm39)	R181*	probably null	Het
Rsf1	T	A	7: 97,311,359 (GRCm39)	D696E	probably benign	Het
Sh3rf2	C	T	18: 42,244,373 (GRCm39)	R280C	probably damaging	Het
Slco6d1	T	A	1: 98,427,502 (GRCm39)	I611K	probably damaging	Het
Snph	G	A	2: 151,435,374 (GRCm39)	P449L	probably benign	Het
Spg7	G	C	8: 123,814,112 (GRCm39)	R457P	probably damaging	Het
Swap70	T	A	7: 109,867,088 (GRCm39)	W297R	probably damaging	Het
Tcaf3	T	A	6: 42,566,738 (GRCm39)	I784F	probably damaging	Het
Tcstv2c	A	T	13: 120,616,167 (GRCm39)	D2V	possibly damaging	Het
Tox2	T	A	2: 163,156,243 (GRCm39)	I138N	probably damaging	Het
Trim54	A	C	5: 31,291,488 (GRCm39)	E203A	probably damaging	Het
Vmn2r19	A	T	6: 123,292,548 (GRCm39)	T197S	possibly damaging	Het
Vmn2r28	T	A	7: 5,491,026 (GRCm39)	H407L	probably damaging	Het
Wdr19	G	A	5: 65,382,069 (GRCm39)	V430M	probably damaging	Het

Other mutations in Paqr8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01996:Paqr8	APN	1	21,005,628 (GRCm39)	missense	probably damaging	1.00
IGL02720:Paqr8	APN	1	21,005,733 (GRCm39)	nonsense	probably null
LCD18:Paqr8	UTSW	1	20,984,882 (GRCm39)	intron	probably benign
R0190:Paqr8	UTSW	1	21,005,271 (GRCm39)	missense	probably benign	0.00
R0566:Paqr8	UTSW	1	21,005,687 (GRCm39)	missense	possibly damaging	0.63
R1491:Paqr8	UTSW	1	21,005,048 (GRCm39)	missense	probably benign
R1885:Paqr8	UTSW	1	21,005,704 (GRCm39)	missense	probably damaging	1.00
R3195:Paqr8	UTSW	1	21,005,257 (GRCm39)	missense	probably damaging	1.00
R3751:Paqr8	UTSW	1	21,005,856 (GRCm39)	missense	probably benign	0.23
R3752:Paqr8	UTSW	1	21,005,856 (GRCm39)	missense	probably benign	0.23
R4748:Paqr8	UTSW	1	21,005,637 (GRCm39)	missense	probably benign	0.06
R5207:Paqr8	UTSW	1	21,005,482 (GRCm39)	missense	probably benign	0.00
R5264:Paqr8	UTSW	1	21,005,332 (GRCm39)	missense	possibly damaging	0.93
R5267:Paqr8	UTSW	1	21,004,920 (GRCm39)	missense	probably benign
R7389:Paqr8	UTSW	1	21,005,389 (GRCm39)	missense	probably damaging	1.00
R7468:Paqr8	UTSW	1	21,005,442 (GRCm39)	missense	probably damaging	1.00
R8920:Paqr8	UTSW	1	21,005,245 (GRCm39)	missense	probably damaging	0.99
R9007:Paqr8	UTSW	1	21,005,614 (GRCm39)	missense	possibly damaging	0.87
R9231:Paqr8	UTSW	1	21,005,875 (GRCm39)	missense	probably benign
R9266:Paqr8	UTSW	1	21,005,863 (GRCm39)	missense	probably benign
R9313:Paqr8	UTSW	1	21,005,128 (GRCm39)	nonsense	probably null
Z1176:Paqr8	UTSW	1	21,005,022 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGACATCAAATCTTCCACGC -3'
(R):5'- AATGGCCTGCATTTGAAATTCC -3'

Sequencing Primer
(F):5'- GACATCAAATCTTCCACGCCTTCC -3'
(R):5'- GGAAATCAAACCCTGGGCTTTCTG -3'

Posted On

2015-03-18