Mutagenetix > Incidental Mutations

Incidental Mutation 'R7629:Panx3'

589553

Institutional Source

Beutler Lab

Gene Symbol

Panx3

Ensembl Gene

ENSMUSG00000011118

Gene Name

pannexin 3

Synonyms

4833413G11Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7629 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37659902-37669235 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37661444 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 270 (Q270L)

Ref Sequence

ENSEMBL: ENSMUSP00000011262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011262] [ENSMUST00000117654] [ENSMUST00000142228] [ENSMUST00000142736]

AlphaFold

Q8CEG0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000011262
AA Change: Q270L

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000011262
Gene: ENSMUSG00000011118
AA Change: Q270L

Domain	Start	End	E-Value	Type
Pfam:Innexin	33	270	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117654

SMART Domains

Protein: ENSMUSP00000112600
Gene: ENSMUSG00000011114

Domain	Start	End	E-Value	Type
low complexity region	32	46	N/A	INTRINSIC
coiled coil region	56	79	N/A	INTRINSIC
low complexity region	90	104	N/A	INTRINSIC
low complexity region	124	156	N/A	INTRINSIC
FYRN	192	235	1.05e-18	SMART
Pfam:FYRC	238	316	1.4e-23	PFAM
low complexity region	349	354	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142228

Predicted Effect

probably benign
Transcript: ENSMUST00000142736

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the innexin family. Innexin family members are known to be the structural components of gap junctions. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit protection against surgically induced osteoarthritis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	G	A	16: 88,707,405	T168I	probably benign	Het
2410089E03Rik	C	T	15: 8,227,067	Q2004*	probably null	Het
Abtb2	T	A	2: 103,683,493		probably null	Het
Ankrd10	A	T	8: 11,615,769	V277E	probably benign	Het
Ankrd28	C	T	14: 31,715,264	V615I	probably benign	Het
Aqr	G	A	2: 114,114,593	P1079L	probably damaging	Het
Brox	G	A	1: 183,292,504	A60V	probably damaging	Het
Copg1	T	C	6: 87,894,169	V289A	possibly damaging	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
D430042O09Rik	T	C	7: 125,795,250	L192P	probably damaging	Het
Dido1	T	C	2: 180,661,473	N1546S	probably benign	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Dmxl1	T	A	18: 49,859,270	I361N	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fhod3	T	A	18: 24,754,317	D88E	probably benign	Het
Flywch1	A	G	17: 23,755,770	M632T	probably benign	Het
Henmt1	A	G	3: 108,958,597	T213A	probably benign	Het
Itga9	T	C	9: 118,698,446	V555A	probably benign	Het
Kif13b	C	T	14: 64,779,335	R1317*	probably null	Het
Kndc1	A	T	7: 139,895,260	E25V	probably damaging	Het
Lingo2	T	A	4: 35,708,675	D435V	possibly damaging	Het
Lrrc14b	T	A	13: 74,361,164	M375L	probably benign	Het
Lrrtm2	T	C	18: 35,214,257		probably null	Het
Mgat4c	G	A	10: 102,389,070	V382I	probably benign	Het
Mpp6	T	C	6: 50,196,623	I489T	probably benign	Het
Muc16	T	C	9: 18,566,785	T7075A	possibly damaging	Het
Myo5b	T	A	18: 74,627,254		probably null	Het
Neb	T	C	2: 52,273,961	D1995G	possibly damaging	Het
Nudt9	T	C	5: 104,050,694	V75A	possibly damaging	Het
Olfr1277	C	T	2: 111,269,876	V164I	probably benign	Het
Paf1	T	C	7: 28,395,068	Y35H	probably damaging	Het
Pde6h	G	T	6: 136,959,319	R20L	possibly damaging	Het
Pdxk	A	G	10: 78,445,006	I200T	probably benign	Het
Ppara	A	T	15: 85,798,191	M363L	probably damaging	Het
Prmt8	A	T	6: 127,689,883	L376*	probably null	Het
Serpina1a	G	C	12: 103,853,808	T393R	probably damaging	Het
Sfxn1	C	T	13: 54,093,022	R178C	probably damaging	Het
Sirpb1c	A	T	3: 15,848,395	W7R	possibly damaging	Het
Skint5	T	C	4: 113,942,660	Y104C	probably damaging	Het
Slamf6	A	T	1: 171,936,624	T195S	probably damaging	Het
Slc2a6	T	C	2: 27,024,202	D301G	probably benign	Het
Stab2	A	T	10: 86,883,782		probably null	Het
Tctn3	C	G	19: 40,611,336	D141H	probably damaging	Het
Tnik	A	G	3: 28,661,728	N1164D	probably damaging	Het
Tpcn1	C	T	5: 120,537,937	V711I	probably benign	Het
Trim11	G	A	11: 58,978,334	G32D	probably damaging	Het
Usp32	TTTGGTTG	TTTG	11: 85,019,855		probably null	Het
Vmn1r72	T	C	7: 11,669,784	I246V	probably benign	Het
Zfp362	G	T	4: 128,786,055	R273S	probably damaging	Het
Zfp715	T	C	7: 43,301,676	D66G	possibly damaging	Het

Other mutations in Panx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01019:Panx3	APN	9	37661471	missense	probably damaging	1.00
IGL01371:Panx3	APN	9	37661475	missense	probably benign	0.03
IGL01458:Panx3	APN	9	37661147	missense	probably damaging	0.99
IGL01637:Panx3	APN	9	37664056	missense	probably damaging	0.98
R1693:Panx3	UTSW	9	37668907	missense	possibly damaging	0.64
R1693:Panx3	UTSW	9	37668946	missense	possibly damaging	0.88
R1708:Panx3	UTSW	9	37661391	missense	probably benign	0.00
R1818:Panx3	UTSW	9	37664026	missense	probably benign	0.04
R2142:Panx3	UTSW	9	37666673	missense	probably damaging	1.00
R5386:Panx3	UTSW	9	37669024	missense	probably damaging	0.99
R5981:Panx3	UTSW	9	37668881	missense	possibly damaging	0.93
R6273:Panx3	UTSW	9	37667429	missense	probably benign	0.01
R6429:Panx3	UTSW	9	37661165	missense	probably damaging	1.00
R6768:Panx3	UTSW	9	37664026	missense	probably benign	0.04
R7082:Panx3	UTSW	9	37666617	missense	probably benign	0.25
R7165:Panx3	UTSW	9	37664085	missense	probably damaging	1.00
R7173:Panx3	UTSW	9	37661300	missense	probably damaging	0.99
R7494:Panx3	UTSW	9	37661312	missense	probably damaging	1.00
R7650:Panx3	UTSW	9	37661405	missense	probably damaging	0.97
R8032:Panx3	UTSW	9	37661670	missense	probably damaging	1.00
R8383:Panx3	UTSW	9	37666753	critical splice acceptor site	probably null
R9425:Panx3	UTSW	9	37661097	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGGTCATTGATGGGGCATCC -3'
(R):5'- TAGAGCGGTACCTGGAATGC -3'

Sequencing Primer
(F):5'- CATTGATGGGGCATCCTAGCATC -3'
(R):5'- TACCTGGAATGCAAGCAGC -3'

Posted On

2019-10-24