Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02112:Panx2'

280188

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Panx2

Ensembl Gene

ENSMUSG00000058441

Gene Name

pannexin 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02112

Quality Score

Status

Chromosome

Chromosomal Location

88943937-88957770 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88953772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 576 (T576A)

Ref Sequence

ENSEMBL: ENSMUSP00000124354 (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

probably benign
Transcript: ENSMUST00000161372
AA Change: T584A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125514
Gene: ENSMUSG00000058441
AA Change: T584A

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: T576A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124354
Gene: ENSMUSG00000058441
AA Change: T576A

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

Coding Region Coverage

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 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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	A	8: 44,104,175 (GRCm39)	Y490F	possibly damaging	Het
Appbp2	A	T	11: 85,092,446 (GRCm39)	H271Q	probably benign	Het
Arhgap17	A	T	7: 122,917,640 (GRCm39)	D181E	possibly damaging	Het
Arhgap25	T	A	6: 87,444,919 (GRCm39)	Y286F	possibly damaging	Het
Atf2	T	C	2: 73,649,381 (GRCm39)	K352R	probably damaging	Het
Bdp1	G	A	13: 100,174,308 (GRCm39)	T2076I	probably benign	Het
C1s2	A	G	6: 124,602,267 (GRCm39)	V642A	probably benign	Het
Cldn18	T	A	9: 99,580,128 (GRCm39)	T170S	probably benign	Het
Cntnap5c	T	A	17: 58,620,853 (GRCm39)	H977Q	probably benign	Het
Col15a1	T	A	4: 47,253,985 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 16,131,719 (GRCm39)	Y1669N	probably benign	Het
Csmd3	A	C	15: 48,177,265 (GRCm39)	S424R	possibly damaging	Het
Cyp4a31	A	G	4: 115,428,180 (GRCm39)	D306G	probably damaging	Het
E2f2	A	G	4: 135,920,145 (GRCm39)	T377A	probably benign	Het
Edil3	A	G	13: 89,328,374 (GRCm39)	D276G	probably damaging	Het
Ei24	A	T	9: 36,693,638 (GRCm39)	Y305N	probably damaging	Het
Erbin	T	C	13: 103,998,844 (GRCm39)	N181D	probably benign	Het
Gli3	A	G	13: 15,837,099 (GRCm39)	Q494R	probably damaging	Het
Gm16519	T	C	17: 71,236,291 (GRCm39)	I80T	probably damaging	Het
Haus8	T	A	8: 71,708,205 (GRCm39)	E163V	probably damaging	Het
Hephl1	G	T	9: 14,993,111 (GRCm39)		probably benign	Het
Hnrnph3	A	G	10: 62,852,184 (GRCm39)		probably null	Het
Liat1	G	T	11: 75,894,214 (GRCm39)	C197F	probably benign	Het
Mast2	A	T	4: 116,176,961 (GRCm39)	C437S	probably damaging	Het
Mef2a	A	C	7: 66,914,620 (GRCm39)	S91R	probably damaging	Het
Mfge8	A	T	7: 78,793,088 (GRCm39)	V126D	probably benign	Het
Nrdc	A	G	4: 108,884,629 (GRCm39)		probably benign	Het
Or7d10	T	A	9: 19,831,821 (GRCm39)	N105K	possibly damaging	Het
Per3	T	C	4: 151,113,640 (GRCm39)	Y306C	probably benign	Het
Ppm1h	G	A	10: 122,638,305 (GRCm39)	G192R	possibly damaging	Het
Prss22	T	C	17: 24,212,945 (GRCm39)	E264G	probably damaging	Het
Rasa3	A	G	8: 13,635,042 (GRCm39)		probably benign	Het
Rpl7a-ps8	C	A	7: 19,687,985 (GRCm39)		probably benign	Het
Rundc1	A	G	11: 101,324,425 (GRCm39)	D377G	probably benign	Het
Sh3bp1	T	C	15: 78,790,084 (GRCm39)		probably null	Het
Sobp	A	G	10: 42,897,873 (GRCm39)	S571P	probably benign	Het
Styxl2	C	A	1: 165,927,240 (GRCm39)	E791*	probably null	Het
Syce1	C	A	7: 140,359,545 (GRCm39)	M114I	probably benign	Het
Tdrd6	G	A	17: 43,940,242 (GRCm39)	R269W	probably damaging	Het
Tmprss13	T	C	9: 45,250,702 (GRCm39)	S408P	probably damaging	Het
Tonsl	T	C	15: 76,517,602 (GRCm39)	T706A	probably benign	Het
Tpcn2	A	G	7: 144,810,529 (GRCm39)	S603P	probably benign	Het
Trmt12	A	T	15: 58,744,665 (GRCm39)	Q21L	probably damaging	Het
Vmn1r68	C	T	7: 10,261,787 (GRCm39)	G104S	probably damaging	Het
Vmn2r82	T	C	10: 79,231,833 (GRCm39)	W611R	probably benign	Het
Vmn2r90	C	A	17: 17,932,465 (GRCm39)	T124K	probably damaging	Het
Vmn2r99	A	G	17: 19,600,494 (GRCm39)	E506G	probably null	Het

Other mutations in Panx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01951:Panx2	APN	15	88,952,970 (GRCm39)	missense	probably damaging	0.99
IGL03384:Panx2	APN	15	88,952,322 (GRCm39)	missense	possibly damaging	0.85
F6893:Panx2	UTSW	15	88,952,213 (GRCm39)	missense	probably damaging	1.00
R0453:Panx2	UTSW	15	88,952,610 (GRCm39)	missense	probably damaging	1.00
R1990:Panx2	UTSW	15	88,953,941 (GRCm39)	missense	possibly damaging	0.95
R2912:Panx2	UTSW	15	88,954,024 (GRCm39)	missense	probably benign	0.01
R3826:Panx2	UTSW	15	88,952,664 (GRCm39)	missense	probably damaging	1.00
R4424:Panx2	UTSW	15	88,952,423 (GRCm39)	missense	probably benign	0.02
R4593:Panx2	UTSW	15	88,952,118 (GRCm39)	missense	probably damaging	1.00
R5176:Panx2	UTSW	15	88,944,431 (GRCm39)	missense	probably damaging	1.00
R5328:Panx2	UTSW	15	88,952,298 (GRCm39)	missense	probably damaging	0.99
R5333:Panx2	UTSW	15	88,952,742 (GRCm39)	missense	possibly damaging	0.58
R5381:Panx2	UTSW	15	88,944,433 (GRCm39)	missense	probably damaging	1.00
R5412:Panx2	UTSW	15	88,953,135 (GRCm39)	missense	possibly damaging	0.79
R5450:Panx2	UTSW	15	88,953,162 (GRCm39)	missense	possibly damaging	0.74
R5989:Panx2	UTSW	15	88,944,455 (GRCm39)	missense	probably damaging	1.00
R6255:Panx2	UTSW	15	88,951,821 (GRCm39)	missense	probably damaging	1.00
R7585:Panx2	UTSW	15	88,952,169 (GRCm39)	missense	probably damaging	1.00
R7685:Panx2	UTSW	15	88,951,973 (GRCm39)	missense	possibly damaging	0.65
R7899:Panx2	UTSW	15	88,952,936 (GRCm39)	missense	possibly damaging	0.74
R8030:Panx2	UTSW	15	88,952,282 (GRCm39)	missense	probably damaging	1.00
R9458:Panx2	UTSW	15	88,952,058 (GRCm39)	missense	probably damaging	1.00
R9458:Panx2	UTSW	15	88,952,057 (GRCm39)	missense	possibly damaging	0.93

Posted On

2015-04-16