Mutagenetix > Incidental Mutations

Incidental Mutation 'R6429:Panx3'

518435

Institutional Source

Beutler Lab

Gene Symbol

Panx3

Ensembl Gene

ENSMUSG00000011118

Gene Name

pannexin 3

Synonyms

4833413G11Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6429 (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 C at 37661165 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 363 (D363G)

Ref Sequence

ENSEMBL: ENSMUSP00000011262 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000011262
AA Change: D363G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000011262
Gene: ENSMUSG00000011118
AA Change: D363G

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

noncoding transcript
Transcript: ENSMUST00000126062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134711

Predicted Effect

probably benign
Transcript: ENSMUST00000142228

Predicted Effect

probably benign
Transcript: ENSMUST00000142736

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	T	C	7: 127,385,042		probably benign	Het
Acacb	G	A	5: 114,228,591	E1565K	probably damaging	Het
Amy1	T	C	3: 113,569,509	N63S	probably damaging	Het
Arhgef15	G	T	11: 68,947,796	N591K	probably damaging	Het
AW551984	A	G	9: 39,600,614	S34P	probably damaging	Het
C2cd3	A	G	7: 100,432,091	D127G	probably damaging	Het
Ccdc87	T	A	19: 4,841,235	V585E	probably benign	Het
Cul2	T	C	18: 3,421,345	I223T	probably damaging	Het
Dgkq	C	T	5: 108,653,708	V495M	probably damaging	Het
Dpp10	A	G	1: 123,367,601	I570T	possibly damaging	Het
Dstyk	C	T	1: 132,449,804	Q383*	probably null	Het
Emilin2	C	A	17: 71,310,956		probably benign	Het
Fnip1	A	G	11: 54,515,567	I1163M	probably damaging	Het
Fryl	C	T	5: 73,090,751	E1008K	possibly damaging	Het
Gm15448	A	T	7: 3,822,346	H432Q	possibly damaging	Het
Gm35315	A	T	5: 110,078,659	Y305N	possibly damaging	Het
Grhl3	T	A	4: 135,557,196	D195V	probably damaging	Het
Il33	T	C	19: 29,952,000	F41S	probably benign	Het
Il4	A	G	11: 53,613,909	S15P	possibly damaging	Het
Inf2	C	T	12: 112,604,256	P410S	probably benign	Het
Kalrn	T	A	16: 34,332,164	D349V	possibly damaging	Het
Krt4	A	G	15: 101,922,794	M224T	probably benign	Het
Lrp2	C	T	2: 69,461,287	S3516N	probably damaging	Het
Macf1	A	T	4: 123,401,594		probably null	Het
Msr1	G	A	8: 39,615,817	P213S	probably damaging	Het
Nptx1	G	T	11: 119,544,721	C256*	probably null	Het
Nr1d1	T	C	11: 98,772,014	Y51C	probably damaging	Het
Olfr1205	G	A	2: 88,831,525	R136Q	probably benign	Het
Prkag1	A	G	15: 98,814,523	F143L	probably damaging	Het
Ptger4	T	C	15: 5,242,997	K72R	possibly damaging	Het
Pvrig	A	G	5: 138,342,050	T28A	probably benign	Het
Rhod	C	T	19: 4,426,105	C206Y	probably benign	Het
Rngtt	C	A	4: 33,320,606	S51*	probably null	Het
Rreb1	T	G	13: 37,932,129	S1155A	probably benign	Het
Scn9a	A	C	2: 66,526,963	I998S	possibly damaging	Het
Sfmbt1	T	A	14: 30,773,911	F50L	probably damaging	Het
Six4	A	T	12: 73,103,473	V766D	probably damaging	Het
Smpd1	T	C	7: 105,556,928	I421T	probably damaging	Het
Son	T	A	16: 91,658,166	M1267K	probably benign	Het
Styk1	T	A	6: 131,310,064	D156V	possibly damaging	Het
Supt3	A	G	17: 45,119,143	E361G	probably benign	Het
Tbx3	T	A	5: 119,674,191	Y185*	probably null	Het
Tmem2	T	C	19: 21,801,908	C361R	probably benign	Het
Trpm1	A	T	7: 64,268,504	T531S	probably benign	Het
Tspan32	T	A	7: 143,018,742	W172R	possibly damaging	Het
Ttc26	T	A	6: 38,398,313	S250T	possibly damaging	Het
Urb1	A	T	16: 90,762,430		probably null	Het
Vmn2r70	T	A	7: 85,559,068	I734F	probably damaging	Het
Vwa7	A	G	17: 35,024,199	T618A	probably benign	Het
Wac	T	A	18: 7,920,163	V339E	probably damaging	Het
Wrn	G	A	8: 33,342,996	T156M	probably damaging	Het
Zeb1	T	A	18: 5,770,498	C884S	probably damaging	Het
Zmpste24	A	G	4: 121,095,670	V10A	probably 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
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
R7629:Panx3	UTSW	9	37661444	missense	possibly damaging	0.83
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

Predicted Primers

PCR Primer
(F):5'- GGATATTTCAGCTGAATCCAATCTC -3'
(R):5'- TGAGATGCTCCCAGCTTTTG -3'

Sequencing Primer
(F):5'- TTAACCATTTTACGTGGACATCC -3'
(R):5'- GATCTCCTCAGTAGAAAGATGCTAG -3'

Posted On

2018-05-24