Mutagenetix > Incidental Mutation

Incidental Mutation 'R9425:Panx3'

712577

Institutional Source

Beutler Lab

Gene Symbol

Panx3

Ensembl Gene

ENSMUSG00000011118

Gene Name

pannexin 3

Synonyms

4833413G11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37571198-37580518 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37572393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 386 (H386Y)

Ref Sequence

ENSEMBL: ENSMUSP00000011262 (fasta)

Gene Model

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

AlphaFold

Q8CEG0

Predicted Effect

probably benign
Transcript: ENSMUST00000011262
AA Change: H386Y

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000011262
Gene: ENSMUSG00000011118
AA Change: H386Y

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: 99.9%
10x: 99.7%
20x: 98.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	C	3: 121,926,344 (GRCm39)	S1260T	probably damaging	Het
Adgra2	A	G	8: 27,576,094 (GRCm39)	I41V	probably benign	Het
Adgrf1	A	G	17: 43,621,274 (GRCm39)	I504V	possibly damaging	Het
Agtrap	A	G	4: 148,165,019 (GRCm39)	I136T	probably damaging	Het
Arhgef7	C	T	8: 11,867,736 (GRCm39)	T601I	probably damaging	Het
Asb7	T	C	7: 66,328,987 (GRCm39)	I18V	possibly damaging	Het
C1rl	T	C	6: 124,485,322 (GRCm39)	V231A	probably benign	Het
Cachd1	A	T	4: 100,832,057 (GRCm39)	T740S	probably benign	Het
Ccdc146	T	A	5: 21,508,135 (GRCm39)	I638F	probably damaging	Het
Ccser2	T	C	14: 36,601,163 (GRCm39)	N407S	probably benign	Het
Clec7a	G	A	6: 129,442,514 (GRCm39)	S126L	probably damaging	Het
Copb1	C	T	7: 113,848,182 (GRCm39)	G118R	probably damaging	Het
Cpne3	A	T	4: 19,525,148 (GRCm39)	M449K	probably damaging	Het
Cttnbp2	A	T	6: 18,423,880 (GRCm39)	C815S	probably damaging	Het
Cyp27b1	T	C	10: 126,886,006 (GRCm39)	L253P	probably damaging	Het
Cyp3a44	C	A	5: 145,740,548 (GRCm39)	G31*	probably null	Het
Dcp2	C	T	18: 44,538,361 (GRCm39)	R173C	probably damaging	Het
Dmgdh	A	T	13: 93,880,813 (GRCm39)	I748L	probably benign	Het
Drc1	T	A	5: 30,502,938 (GRCm39)	W154R	probably benign	Het
E330034G19Rik	T	A	14: 24,358,387 (GRCm39)		probably null	Het
Gbp7	T	A	3: 142,248,718 (GRCm39)	V327E	probably damaging	Het
Gm11564	G	A	11: 99,706,065 (GRCm39)	P122S	unknown	Het
Grid2ip	C	A	5: 143,367,435 (GRCm39)	S615R		Het
Kcp	T	A	6: 29,489,151 (GRCm39)	Q1045L	probably benign	Het
Lgals3bp	T	A	11: 118,284,751 (GRCm39)	E276V	probably damaging	Het
Lrit1	T	C	14: 36,784,208 (GRCm39)	V512A	possibly damaging	Het
Mecom	T	A	3: 30,039,597 (GRCm39)	H154L	probably benign	Het
Mmp14	C	A	14: 54,677,804 (GRCm39)	T475K	probably damaging	Het
Mmp1a	T	G	9: 7,476,210 (GRCm39)	F436V	probably damaging	Het
Notch4	A	G	17: 34,795,801 (GRCm39)	S830G	probably benign	Het
Oas1b	T	C	5: 120,955,693 (GRCm39)	L158P	probably benign	Het
Odf4	A	G	11: 68,813,810 (GRCm39)	V126A	probably benign	Het
Olfml2a	A	G	2: 38,847,721 (GRCm39)	T427A	probably damaging	Het
Or2b28	A	G	13: 21,531,473 (GRCm39)	Y125C	probably damaging	Het
Or4c102	C	A	2: 88,422,877 (GRCm39)	T243K	probably damaging	Het
Or5b121	C	T	19: 13,507,222 (GRCm39)	L106F	probably damaging	Het
Or6d12	G	A	6: 116,493,574 (GRCm39)	E279K	possibly damaging	Het
Or8b42	A	G	9: 38,342,286 (GRCm39)	K236R	possibly damaging	Het
Papss1	C	A	3: 131,270,708 (GRCm39)	C8*	probably null	Het
Papss2	G	T	19: 32,615,750 (GRCm39)	V161L	possibly damaging	Het
Pcdh18	G	T	3: 49,709,051 (GRCm39)	H755N	possibly damaging	Het
Pilrb2	G	C	5: 137,866,964 (GRCm39)	H180D	probably benign	Het
Pla2g4f	T	C	2: 120,133,264 (GRCm39)	D645G	possibly damaging	Het
Pnlip	A	T	19: 58,669,290 (GRCm39)	K430*	probably null	Het
Ralbp1	C	A	17: 66,171,506 (GRCm39)	A156S	possibly damaging	Het
Rnf4	C	T	5: 34,508,641 (GRCm39)	R168C	probably benign	Het
Slc17a5	C	T	9: 78,484,457 (GRCm39)	G127E	probably damaging	Het
Slc22a27	A	T	19: 7,874,156 (GRCm39)	N306K	probably damaging	Het
Slc5a9	G	A	4: 111,734,803 (GRCm39)	R664C	probably damaging	Het
Slco1b2	T	A	6: 141,603,249 (GRCm39)	I210K	possibly damaging	Het
Snx16	C	T	3: 10,499,520 (GRCm39)	R170H	probably damaging	Het
Speer4e1	T	C	5: 14,987,136 (GRCm39)	I90V	possibly damaging	Het
Stxbp5l	T	C	16: 36,994,706 (GRCm39)	D733G	possibly damaging	Het
Tbc1d24	A	G	17: 24,404,382 (GRCm39)	V254A	probably benign	Het
Tmf1	A	G	6: 97,149,293 (GRCm39)	F485L	probably benign	Het
Tnks	G	A	8: 35,340,819 (GRCm39)	L396F	probably damaging	Het
Trabd	T	C	15: 88,969,496 (GRCm39)	C230R	probably damaging	Het
Trp53rkb	C	T	2: 166,637,542 (GRCm39)	A166V	probably benign	Het
Upf1	A	T	8: 70,792,003 (GRCm39)	D418E	probably benign	Het
Ust	A	C	10: 8,205,873 (GRCm39)	S137A	probably damaging	Het
Zfp513	T	A	5: 31,357,695 (GRCm39)	H228L	possibly damaging	Het
Zfp827	C	A	8: 79,905,588 (GRCm39)	A855E	probably damaging	Het

Other mutations in Panx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01019:Panx3	APN	9	37,572,767 (GRCm39)	missense	probably damaging	1.00
IGL01371:Panx3	APN	9	37,572,771 (GRCm39)	missense	probably benign	0.03
IGL01458:Panx3	APN	9	37,572,443 (GRCm39)	missense	probably damaging	0.99
IGL01637:Panx3	APN	9	37,575,352 (GRCm39)	missense	probably damaging	0.98
R1693:Panx3	UTSW	9	37,580,242 (GRCm39)	missense	possibly damaging	0.88
R1693:Panx3	UTSW	9	37,580,203 (GRCm39)	missense	possibly damaging	0.64
R1708:Panx3	UTSW	9	37,572,687 (GRCm39)	missense	probably benign	0.00
R1818:Panx3	UTSW	9	37,575,322 (GRCm39)	missense	probably benign	0.04
R2142:Panx3	UTSW	9	37,577,969 (GRCm39)	missense	probably damaging	1.00
R5386:Panx3	UTSW	9	37,580,320 (GRCm39)	missense	probably damaging	0.99
R5981:Panx3	UTSW	9	37,580,177 (GRCm39)	missense	possibly damaging	0.93
R6273:Panx3	UTSW	9	37,578,725 (GRCm39)	missense	probably benign	0.01
R6429:Panx3	UTSW	9	37,572,461 (GRCm39)	missense	probably damaging	1.00
R6768:Panx3	UTSW	9	37,575,322 (GRCm39)	missense	probably benign	0.04
R7082:Panx3	UTSW	9	37,577,913 (GRCm39)	missense	probably benign	0.25
R7165:Panx3	UTSW	9	37,575,381 (GRCm39)	missense	probably damaging	1.00
R7173:Panx3	UTSW	9	37,572,596 (GRCm39)	missense	probably damaging	0.99
R7494:Panx3	UTSW	9	37,572,608 (GRCm39)	missense	probably damaging	1.00
R7629:Panx3	UTSW	9	37,572,740 (GRCm39)	missense	possibly damaging	0.83
R7650:Panx3	UTSW	9	37,572,701 (GRCm39)	missense	probably damaging	0.97
R8032:Panx3	UTSW	9	37,572,966 (GRCm39)	missense	probably damaging	1.00
R8383:Panx3	UTSW	9	37,578,049 (GRCm39)	critical splice acceptor site	probably null
R9545:Panx3	UTSW	9	37,575,437 (GRCm39)	missense	probably damaging	0.99
R9726:Panx3	UTSW	9	37,572,992 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGACTCCCAGACTTCACACTG -3'
(R):5'- CCCCATCAATGACCTCAATGTG -3'

Sequencing Primer
(F):5'- CCAGACTTCACACTGAATTTTCATG -3'
(R):5'- CATCAATGACCTCAATGTGATTCTTC -3'

Posted On

2022-05-16