Mutagenetix > Incidental Mutation

Incidental Mutation 'R5450:Panx2'

429303

Institutional Source

Beutler Lab

Gene Symbol

Panx2

Ensembl Gene

ENSMUSG00000058441

Gene Name

pannexin 2

Synonyms

MMRRC Submission

043015-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5450 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89059734-89073567 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89068959 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 551 (E551G)

Ref Sequence

ENSEMBL: ENSMUSP00000125514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161372] [ENSMUST00000162424]

AlphaFold

Q6IMP4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150364

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159412

Predicted Effect

probably benign
Transcript: ENSMUST00000159960

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161372
AA Change: E551G

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125514
Gene: ENSMUSG00000058441
AA Change: E551G

Domain	Start	End	E-Value	Type
Pfam:Innexin	48	274	2.1e-11	PFAM
transmembrane domain	302	324	N/A	INTRINSIC
low complexity region	429	438	N/A	INTRINSIC
low complexity region	498	513	N/A	INTRINSIC
low complexity region	601	617	N/A	INTRINSIC
low complexity region	630	648	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161735

Predicted Effect

probably benign
Transcript: ENSMUST00000162424
AA Change: E543G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000124354
Gene: ENSMUSG00000058441
AA Change: E543G

Domain	Start	End	E-Value	Type
low complexity region	34	48	N/A	INTRINSIC
Pfam:Innexin	49	263	5.6e-18	PFAM
transmembrane domain	294	316	N/A	INTRINSIC
low complexity region	421	430	N/A	INTRINSIC
low complexity region	490	505	N/A	INTRINSIC
low complexity region	593	609	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162579

Meta Mutation Damage Score

0.0849

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (74/76)

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 the structural components of gap junctions. This protein and pannexin 1 are abundantly expressed in central nervous system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 1 may form cell type-specific gap junctions with distinct properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a slight protection from the neurological defects induced by ischemic brain injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349 (GRCm38)	V173M	probably damaging	Het
Arhgef4	T	G	1: 34,807,324 (GRCm38)		probably benign	Het
Atg14	T	C	14: 47,551,464 (GRCm38)	N144S	probably benign	Het
Cacna1h	A	T	17: 25,383,186 (GRCm38)	M1454K	probably damaging	Het
Catsperb	A	T	12: 101,446,068 (GRCm38)	H138L	possibly damaging	Het
Cd200r2	T	A	16: 44,909,571 (GRCm38)	D159E	probably benign	Het
Cd79a	G	T	7: 24,899,262 (GRCm38)	G79C	probably damaging	Het
Ceacam20	A	G	7: 19,978,208 (GRCm38)	H38R	possibly damaging	Het
Cers1	T	C	8: 70,318,297 (GRCm38)	L119P	probably damaging	Het
Ces1f	C	A	8: 93,265,795 (GRCm38)	V343L	probably benign	Het
Ces3a	G	A	8: 105,057,918 (GRCm38)	G511S	possibly damaging	Het
Cyfip2	A	G	11: 46,284,252 (GRCm38)	C98R	probably benign	Het
Cyp2j11	C	A	4: 96,339,876 (GRCm38)	V169L	probably benign	Het
Cyp4f17	A	G	17: 32,528,886 (GRCm38)	T523A	probably benign	Het
Ddx31	T	C	2: 28,886,969 (GRCm38)	S567P	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038 (GRCm38)		probably null	Het
Dsg1b	A	C	18: 20,409,064 (GRCm38)	H876P	probably damaging	Het
Edrf1	G	T	7: 133,658,610 (GRCm38)	M83I	probably damaging	Het
Eno4	T	C	19: 58,960,247 (GRCm38)	F393S	possibly damaging	Het
Eral1	C	T	11: 78,078,357 (GRCm38)	D106N	probably benign	Het
Esp18	G	T	17: 39,408,179 (GRCm38)	R23M	probably benign	Het
Fam184b	C	T	5: 45,539,801 (GRCm38)	V674I	probably benign	Het
Fbxw13	A	C	9: 109,184,157 (GRCm38)	N154K	probably benign	Het
Gtpbp6	A	G	5: 110,107,125 (GRCm38)	V130A	probably damaging	Het
Hc	T	C	2: 35,013,038 (GRCm38)	D1067G	possibly damaging	Het
Ighg1	A	T	12: 113,330,506 (GRCm38)	S6T	unknown	Het
Ikzf3	C	T	11: 98,467,086 (GRCm38)	R475H	probably damaging	Het
Itprid1	T	A	6: 55,968,811 (GRCm38)		probably null	Het
Kcmf1	A	T	6: 72,842,930 (GRCm38)	L311*	probably null	Het
Kmt2d	C	A	15: 98,855,086 (GRCm38)	E184D	probably damaging	Het
Lrguk	A	T	6: 34,071,061 (GRCm38)	I314F	probably damaging	Het
Maml2	A	C	9: 13,706,467 (GRCm38)	S370R	probably damaging	Het
Mroh1	C	A	15: 76,432,347 (GRCm38)		probably benign	Het
Mx1	A	T	16: 97,454,147 (GRCm38)	Y235*	probably null	Het
Or4x6	A	G	2: 90,118,669 (GRCm38)	*310Q	probably null	Het
Pamr1	T	G	2: 102,639,317 (GRCm38)	Y403D	probably damaging	Het
Patl2	A	G	2: 122,125,281 (GRCm38)	V258A	probably benign	Het
Ppm1m	A	G	9: 106,196,842 (GRCm38)	F255L	probably benign	Het
Prpf40a	G	T	2: 53,156,926 (GRCm38)	T266N	possibly damaging	Het
Psg18	T	A	7: 18,353,425 (GRCm38)	I103F	probably benign	Het
Rpl39-ps	A	G	15: 102,635,148 (GRCm38)		noncoding transcript	Het
Rps6kb1	A	T	11: 86,532,837 (GRCm38)	F106I	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908 (GRCm38)		probably benign	Het
Sardh	G	T	2: 27,239,698 (GRCm38)	T245K	possibly damaging	Het
Shprh	T	G	10: 11,212,330 (GRCm38)	I1619S	possibly damaging	Het
Skint1	G	A	4: 112,025,532 (GRCm38)	V258I	probably benign	Het
Slc27a5	T	C	7: 12,994,942 (GRCm38)	D331G	probably benign	Het
Slc29a2	A	G	19: 5,029,275 (GRCm38)	I309V	probably benign	Het
Slc30a5	C	T	13: 100,821,172 (GRCm38)	V130I	possibly damaging	Het
Slc4a3	C	A	1: 75,552,656 (GRCm38)	A531D	probably damaging	Het
Slc6a16	C	T	7: 45,261,248 (GRCm38)	T399I	probably benign	Het
Slitrk6	T	A	14: 110,750,097 (GRCm38)	H726L	probably benign	Het
Snx2	A	G	18: 53,210,712 (GRCm38)	K309R	probably damaging	Het
Speer4f2	T	A	5: 17,373,219 (GRCm38)	C4S	possibly damaging	Het
Sulf1	T	C	1: 12,796,907 (GRCm38)	V105A	probably benign	Het
Tcstv7a	A	T	13: 119,828,363 (GRCm38)	V99E	probably damaging	Het
Tmem8b	G	A	4: 43,673,992 (GRCm38)	V208I	probably benign	Het
Vmn1r47	T	C	6: 90,022,213 (GRCm38)	L109P	probably damaging	Het
Vmn1r73	C	A	7: 11,756,449 (GRCm38)	Q65K	possibly damaging	Het
Vmn1r76	T	C	7: 11,930,684 (GRCm38)	Y166C	probably damaging	Het
Vmn2r2	T	C	3: 64,126,590 (GRCm38)	T504A	probably benign	Het
Wdr75	C	A	1: 45,812,164 (GRCm38)	A300E	probably benign	Het
Yars1	A	G	4: 129,197,246 (GRCm38)	E149G	possibly damaging	Het
Zbtb18	T	C	1: 177,447,205 (GRCm38)	F35L	probably damaging	Het
Zfp366	A	G	13: 99,229,585 (GRCm38)	Y418C	probably damaging	Het

Other mutations in Panx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01951:Panx2	APN	15	89,068,767 (GRCm38)	missense	probably damaging	0.99
IGL02112:Panx2	APN	15	89,069,569 (GRCm38)	missense	probably benign
IGL03384:Panx2	APN	15	89,068,119 (GRCm38)	missense	possibly damaging	0.85
F6893:Panx2	UTSW	15	89,068,010 (GRCm38)	missense	probably damaging	1.00
R0453:Panx2	UTSW	15	89,068,407 (GRCm38)	missense	probably damaging	1.00
R1990:Panx2	UTSW	15	89,069,738 (GRCm38)	missense	possibly damaging	0.95
R2912:Panx2	UTSW	15	89,069,821 (GRCm38)	missense	probably benign	0.01
R3826:Panx2	UTSW	15	89,068,461 (GRCm38)	missense	probably damaging	1.00
R4424:Panx2	UTSW	15	89,068,220 (GRCm38)	missense	probably benign	0.02
R4593:Panx2	UTSW	15	89,067,915 (GRCm38)	missense	probably damaging	1.00
R5176:Panx2	UTSW	15	89,060,228 (GRCm38)	missense	probably damaging	1.00
R5328:Panx2	UTSW	15	89,068,095 (GRCm38)	missense	probably damaging	0.99
R5333:Panx2	UTSW	15	89,068,539 (GRCm38)	missense	possibly damaging	0.58
R5381:Panx2	UTSW	15	89,060,230 (GRCm38)	missense	probably damaging	1.00
R5412:Panx2	UTSW	15	89,068,932 (GRCm38)	missense	possibly damaging	0.79
R5989:Panx2	UTSW	15	89,060,252 (GRCm38)	missense	probably damaging	1.00
R6255:Panx2	UTSW	15	89,067,618 (GRCm38)	missense	probably damaging	1.00
R7585:Panx2	UTSW	15	89,067,966 (GRCm38)	missense	probably damaging	1.00
R7685:Panx2	UTSW	15	89,067,770 (GRCm38)	missense	possibly damaging	0.65
R7899:Panx2	UTSW	15	89,068,733 (GRCm38)	missense	possibly damaging	0.74
R8030:Panx2	UTSW	15	89,068,079 (GRCm38)	missense	probably damaging	1.00
R9458:Panx2	UTSW	15	89,067,855 (GRCm38)	missense	probably damaging	1.00
R9458:Panx2	UTSW	15	89,067,854 (GRCm38)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ACACACTTATTGCCCCGCTG -3'
(R):5'- TACACTGGACTCTGATGCTTTC -3'

Sequencing Primer
(F):5'- TATTGCCCCGCTGCTGGAC -3'
(R):5'- CCCTACCTTTGGTGGGT -3'

Posted On

2016-09-06