Mutagenetix > Incidental Mutation

Incidental Mutation 'R6768:Panx3'

532048

Institutional Source

Beutler Lab

Gene Symbol

Panx3

Ensembl Gene

ENSMUSG00000011118

Gene Name

pannexin 3

Synonyms

4833413G11Rik

MMRRC Submission

044884-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6768 (G1)

Quality Score

203.009

Status

Validated

Chromosome

Chromosomal Location

37571198-37580518 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37575322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 180 (K180R)

Ref Sequence

ENSEMBL: ENSMUSP00000011262 (fasta)

Gene Model

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

AlphaFold

Q8CEG0

Predicted Effect

probably benign
Transcript: ENSMUST00000011262
AA Change: K180R

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000011262
Gene: ENSMUSG00000011118
AA Change: K180R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215047

Meta Mutation Damage Score

0.0825

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.9%
20x: 97.2%

Validation Efficiency

96% (45/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	G	A	12: 113,453,863 (GRCm39)	V227I	probably benign	Het
Agtrap	A	G	4: 148,166,067 (GRCm39)	V106A	probably benign	Het
Aldh3a2	A	C	11: 61,144,536 (GRCm39)	S341A	probably benign	Het
Bmper	T	A	9: 23,292,749 (GRCm39)	C353S	probably damaging	Het
Casq1	C	T	1: 172,047,245 (GRCm39)	D5N	probably benign	Het
Ccin	G	A	4: 43,984,574 (GRCm39)	R327H	probably benign	Het
Chuk	A	G	19: 44,085,390 (GRCm39)	V252A	probably damaging	Het
Colec11	T	C	12: 28,645,100 (GRCm39)		probably null	Het
Cpeb3	G	A	19: 37,002,432 (GRCm39)	T643I	possibly damaging	Het
Cstpp1	A	T	2: 91,252,303 (GRCm39)	H19Q	probably damaging	Het
Ctcfl	A	G	2: 172,959,084 (GRCm39)	V214A	possibly damaging	Het
Dst	A	G	1: 34,220,793 (GRCm39)	E2199G	probably damaging	Het
Eno2	T	C	6: 124,744,711 (GRCm39)	E45G	probably damaging	Het
Foxa2	T	C	2: 147,885,747 (GRCm39)	H181R	probably damaging	Het
Fpgs	A	G	2: 32,576,635 (GRCm39)	S331P	probably benign	Het
Gm47189	A	G	14: 41,492,035 (GRCm39)	S81P	probably benign	Het
Igsf8	C	A	1: 172,145,099 (GRCm39)	P142Q	probably damaging	Het
Islr	G	T	9: 58,064,893 (GRCm39)	Q205K	possibly damaging	Het
Josd1	A	G	15: 79,561,323 (GRCm39)	W162R	probably benign	Het
Lrrc37a	G	A	11: 103,390,949 (GRCm39)	T1492I	probably benign	Het
Meox1	A	G	11: 101,770,161 (GRCm39)	F189L	probably damaging	Het
Mtf1	G	A	4: 124,731,578 (GRCm39)	D385N	probably benign	Het
Naip2	A	T	13: 100,314,832 (GRCm39)	C315*	probably null	Het
Ncaph2	T	A	15: 89,248,202 (GRCm39)	Y166*	probably null	Het
Nr1i3	G	A	1: 171,044,966 (GRCm39)	V270M	probably damaging	Het
Or11h4b	A	G	14: 50,919,049 (GRCm39)	L14S	probably damaging	Het
Or13c7	T	C	4: 43,854,351 (GRCm39)	I14T	probably benign	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Reln	A	C	5: 22,183,905 (GRCm39)	V1698G	probably damaging	Het
Rnf213	G	T	11: 119,333,062 (GRCm39)	R2757L	probably damaging	Het
Scgb2b26	G	T	7: 33,644,379 (GRCm39)	T4K	probably damaging	Het
Sdhb	A	G	4: 140,706,364 (GRCm39)	E267G	probably damaging	Het
Sorbs1	A	T	19: 40,315,991 (GRCm39)	N383K	probably damaging	Het
Stk11ip	T	A	1: 75,509,279 (GRCm39)	C766S	probably benign	Het
Taf6l	A	C	19: 8,751,913 (GRCm39)	S592A	probably damaging	Het
Tmem145	G	A	7: 25,008,061 (GRCm39)	G235D	probably damaging	Het
Tuba3b	T	A	6: 145,564,455 (GRCm39)		probably null	Het
Ubl7	A	T	9: 57,820,045 (GRCm39)	E32D	probably benign	Het
Vmn1r168	A	T	7: 23,240,460 (GRCm39)	T106S	probably damaging	Het
Vmn2r59	C	A	7: 41,661,392 (GRCm39)	V808F	probably benign	Het
Vmn2r61	C	T	7: 41,949,748 (GRCm39)	P723S	probably damaging	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zfp11	G	T	5: 129,735,415 (GRCm39)	D15E	probably benign	Het
Zfp428	G	A	7: 24,214,908 (GRCm39)	G162R	probably damaging	Het
Zfp629	G	A	7: 127,209,997 (GRCm39)	T604I	probably benign	Het
Zfpm1	C	A	8: 123,061,195 (GRCm39)	D253E	probably damaging	Het
Zhx1	G	T	15: 57,917,499 (GRCm39)	T249K	probably benign	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
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
R9425:Panx3	UTSW	9	37,572,393 (GRCm39)	missense	probably benign	0.03
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'- GCGAGTAATCCCTGTGGTTCAG -3'
(R):5'- CATGTATCTGCCAGTGTTGCTG -3'

Sequencing Primer
(F):5'- TGGTTCAGGATCTGTCAACTAGAGAC -3'
(R):5'- GTGGCAATATGTAGCTGTGCCC -3'

Posted On

2018-08-29