Mutagenetix > Incidental Mutation

Incidental Mutation 'R8920:Paqr8'

679171

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 #

R8920 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20960830-21009874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21005245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 133 (Q133L)

Ref Sequence

ENSEMBL: ENSMUSP00000069127 (fasta)

Gene Model

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

AlphaFold

Q80ZE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000068880
AA Change: Q133L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069127
Gene: ENSMUSG00000025931
AA Change: Q133L

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: Q133L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128781
Gene: ENSMUSG00000025931
AA Change: Q133L

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: Q133L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140913
Gene: ENSMUSG00000025931
AA Change: Q133L

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: Q133L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141054
Gene: ENSMUSG00000025931
AA Change: Q133L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa10	T	A	8: 62,527,580 (GRCm39)	Q160L	probably benign	Het
Apc2	A	T	10: 80,149,934 (GRCm39)	I1663L	probably benign	Het
Bahcc1	C	G	11: 120,175,331 (GRCm39)	R1802G	probably damaging	Het
C1qtnf1	T	C	11: 118,339,068 (GRCm39)	V246A	possibly damaging	Het
Cbl	A	G	9: 44,078,570 (GRCm39)	M267T	probably damaging	Het
Cd300lf	T	C	11: 115,017,180 (GRCm39)	K48E	probably benign	Het
Cfap46	G	T	7: 139,232,442 (GRCm39)	N840K		Het
Cfap54	T	A	10: 92,776,199 (GRCm39)		probably null	Het
Cnrip1	A	C	11: 17,005,003 (GRCm39)	K184N	unknown	Het
Dnah11	A	T	12: 118,077,674 (GRCm39)	L1273Q	probably damaging	Het
Dyrk1a	T	G	16: 94,460,488 (GRCm39)	I48R	probably benign	Het
Exoc7	T	C	11: 116,180,055 (GRCm39)	E683G	probably benign	Het
Hdac1-ps	A	G	17: 78,799,171 (GRCm39)	Y54C	probably benign	Het
Igtp	A	T	11: 58,096,999 (GRCm39)	I57F	probably damaging	Het
Inhbb	T	C	1: 119,345,107 (GRCm39)	N394S	probably damaging	Het
Jag1	T	C	2: 136,931,143 (GRCm39)	H663R	probably benign	Het
Kcna6	A	G	6: 126,716,610 (GRCm39)	F93S	probably damaging	Het
L1td1	C	A	4: 98,624,864 (GRCm39)	S353*	probably null	Het
Lgals12	T	C	19: 7,576,166 (GRCm39)	I253V	possibly damaging	Het
Lgals4	C	T	7: 28,540,289 (GRCm39)	R195C	probably benign	Het
Lrp1b	A	T	2: 42,213,610 (GRCm39)	D67E		Het
Lrrc43	T	C	5: 123,639,194 (GRCm39)	S408P	probably benign	Het
Madd	T	C	2: 91,007,168 (GRCm39)	I315V	probably benign	Het
Mdn1	T	C	4: 32,719,280 (GRCm39)	F2281S	probably damaging	Het
Med13l	A	T	5: 118,885,543 (GRCm39)	K1499*	probably null	Het
Myoc	A	G	1: 162,475,127 (GRCm39)	E226G	probably benign	Het
Nmur1	T	C	1: 86,315,577 (GRCm39)	Y96C	probably damaging	Het
Nwd2	A	T	5: 63,948,863 (GRCm39)	D145V	probably damaging	Het
Or7g18	C	A	9: 18,787,394 (GRCm39)	T254K	probably damaging	Het
Plbd2	T	C	5: 120,630,915 (GRCm39)	D230G	probably damaging	Het
Plekha7	A	G	7: 115,744,218 (GRCm39)	I694T	probably benign	Het
Rnf139	C	T	15: 58,771,529 (GRCm39)	T518I	possibly damaging	Het
Ryr1	G	T	7: 28,789,640 (GRCm39)	S1498R	possibly damaging	Het
Senp6	T	A	9: 79,999,561 (GRCm39)	S72T	probably benign	Het
Slc12a7	C	T	13: 73,946,568 (GRCm39)	P554S	probably damaging	Het
Slc6a2	C	A	8: 93,687,990 (GRCm39)	R39S	probably benign	Het
Snrpe	T	G	1: 133,534,199 (GRCm39)	H88P	probably benign	Het
Stard9	T	A	2: 120,533,088 (GRCm39)	V3115E	probably damaging	Het
Stk39	C	T	2: 68,302,191 (GRCm39)	V11I	unknown	Het
Tapbpl	T	C	6: 125,205,214 (GRCm39)	Y244C	probably damaging	Het
Tpx2	A	G	2: 152,726,214 (GRCm39)	E393G	probably damaging	Het
Vmn2r100	A	T	17: 19,741,620 (GRCm39)	N111Y	probably damaging	Het
Vstm4	C	T	14: 32,585,615 (GRCm39)	R61C	probably damaging	Het
Washc2	T	A	6: 116,221,615 (GRCm39)	F698I	possibly damaging	Het
Zfp467	G	A	6: 48,415,414 (GRCm39)	P413S	probably benign	Het
Zfp532	G	T	18: 65,820,390 (GRCm39)	A992S	probably benign	Het
Zfp622	G	A	15: 25,996,321 (GRCm39)	W430*	probably null	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
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
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'- TCAACGTCTGGACCCACTTG -3'
(R):5'- CTTCCTCATAACTGGATAAGGCCG -3'

Sequencing Primer
(F):5'- CACTTGCTGGCTGCTCTAG -3'
(R):5'- TCGGTAGCGATACTTGGCATAAC -3'

Posted On

2021-08-02