Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01996:Paqr8'

182887

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01996

Quality Score

Status

Chromosome

Chromosomal Location

20960830-21009874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21005628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 261 (F261L)

Ref Sequence

ENSEMBL: ENSMUSP00000141054 (fasta)

Gene Model

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

AlphaFold

Q80ZE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000068880
AA Change: F261L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069127
Gene: ENSMUSG00000025931
AA Change: F261L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167119
AA Change: F261L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128781
Gene: ENSMUSG00000025931
AA Change: F261L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000187651
AA Change: F261L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140913
Gene: ENSMUSG00000025931
AA Change: F261L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000189400
AA Change: F261L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141054
Gene: ENSMUSG00000025931
AA Change: F261L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,078,430 (GRCm39)	V29A	possibly damaging	Het
Adarb1	A	G	10: 77,158,051 (GRCm39)	L132P	probably damaging	Het
Afg3l1	T	G	8: 124,228,633 (GRCm39)	M733R	probably damaging	Het
Aox1	C	T	1: 58,121,225 (GRCm39)	R899C	probably benign	Het
Arhgap44	T	A	11: 64,896,322 (GRCm39)		probably benign	Het
Asns	T	C	6: 7,682,378 (GRCm39)	D189G	possibly damaging	Het
Brap	A	G	5: 121,816,910 (GRCm39)		probably benign	Het
Ccdc138	T	A	10: 58,397,852 (GRCm39)	L564H	probably damaging	Het
Ccdc167	A	G	17: 29,924,461 (GRCm39)		probably null	Het
Ccdc178	A	G	18: 22,230,813 (GRCm39)	Y353H	probably damaging	Het
Clca3b	A	T	3: 144,554,924 (GRCm39)	S41R	probably benign	Het
Dpep3	T	C	8: 106,701,358 (GRCm39)	N397S	probably damaging	Het
Eif1	T	C	11: 100,211,826 (GRCm39)	I83T	probably benign	Het
Enah	A	T	1: 181,784,070 (GRCm39)	W80R	unknown	Het
F2rl1	C	T	13: 95,650,432 (GRCm39)	C150Y	probably damaging	Het
Fbxw24	T	C	9: 109,434,440 (GRCm39)	R387G	possibly damaging	Het
Fsd1l	A	G	4: 53,647,760 (GRCm39)	T68A	probably benign	Het
Greb1	T	C	12: 16,740,846 (GRCm39)	K1412R	possibly damaging	Het
Grin2b	T	C	6: 135,709,584 (GRCm39)	S1321G	probably damaging	Het
H4c11	G	A	13: 21,919,308 (GRCm39)	G15S	unknown	Het
Itgb7	C	T	15: 102,126,412 (GRCm39)	G508D	probably damaging	Het
Kcnq3	A	G	15: 65,895,545 (GRCm39)	I333T	probably damaging	Het
Knl1	A	G	2: 118,934,542 (GRCm39)	D2115G	probably damaging	Het
Lmtk3	G	A	7: 45,442,871 (GRCm39)		probably null	Het
Lrpprc	A	G	17: 85,080,698 (GRCm39)	Y176H	probably benign	Het
Mier1	T	C	4: 102,984,473 (GRCm39)	S22P	possibly damaging	Het
Mme	A	T	3: 63,250,970 (GRCm39)	N337I	probably benign	Het
Mthfd1	A	G	12: 76,350,679 (GRCm39)	Y687C	probably damaging	Het
Nrp2	T	C	1: 62,788,419 (GRCm39)	M373T	probably damaging	Het
Nudcd1	A	T	15: 44,269,357 (GRCm39)	F101Y	probably benign	Het
Nup133	T	A	8: 124,673,334 (GRCm39)	I66L	probably benign	Het
Or10j7	T	C	1: 173,011,294 (GRCm39)	T236A	probably benign	Het
Or11j4	T	G	14: 50,631,116 (GRCm39)	M301R	probably damaging	Het
Or1e19	T	A	11: 73,316,794 (GRCm39)	N5I	probably damaging	Het
Osbpl5	A	G	7: 143,261,081 (GRCm39)		probably null	Het
Plxna2	A	G	1: 194,482,084 (GRCm39)	E1452G	probably damaging	Het
Polh	T	C	17: 46,483,927 (GRCm39)	D446G	probably benign	Het
Psg19	A	T	7: 18,523,986 (GRCm39)	M353K	possibly damaging	Het
Sap25	T	C	5: 137,640,080 (GRCm39)		probably null	Het
Sap30l	C	T	11: 57,700,777 (GRCm39)	R144*	probably null	Het
Sema6b	C	T	17: 56,438,157 (GRCm39)	V144M	probably damaging	Het
Sfmbt2	T	C	2: 10,444,837 (GRCm39)	Y228H	probably benign	Het
Shank2	A	G	7: 143,965,230 (GRCm39)	D946G	probably damaging	Het
Slc11a1	T	A	1: 74,415,965 (GRCm39)	L52Q	possibly damaging	Het
Sptlc3	T	C	2: 139,423,424 (GRCm39)		probably benign	Het
Tgfb1i1	T	C	7: 127,848,464 (GRCm39)		probably benign	Het
Tifa	T	C	3: 127,590,229 (GRCm39)		probably benign	Het
Tomm40l	C	T	1: 171,047,224 (GRCm39)	V265M	possibly damaging	Het
Trim45	C	A	3: 100,835,425 (GRCm39)	Y469*	probably null	Het
Ttc21a	G	T	9: 119,787,182 (GRCm39)	A730S	probably damaging	Het
Vmn1r18	A	T	6: 57,367,001 (GRCm39)	D184E	possibly damaging	Het
Vmn2r120	A	T	17: 57,832,222 (GRCm39)	I189N	possibly damaging	Het

Other mutations in Paqr8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R3753: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

Posted On

2014-05-07