Mutagenetix > Incidental Mutation

Incidental Mutation 'R0602:Panx1'

55489

Institutional Source

Beutler Lab

Gene Symbol

Panx1

Ensembl Gene

ENSMUSG00000031934

Gene Name

pannexin 1

Synonyms

MMRRC Submission

038791-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0602 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

14917081-14956774 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14921500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 125 (L125P)

Ref Sequence

ENSEMBL: ENSMUSP00000126405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056755] [ENSMUST00000164273] [ENSMUST00000169288]

AlphaFold

Q9JIP4

Predicted Effect

probably benign
Transcript: ENSMUST00000056755

SMART Domains

Protein: ENSMUSP00000053557
Gene: ENSMUSG00000031934

Domain	Start	End	E-Value	Type
Pfam:Innexin	31	102	1.2e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164273
AA Change: L125P

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

SMART Domains

Protein: ENSMUSP00000126405
Gene: ENSMUSG00000031934
AA Change: L125P

Domain	Start	End	E-Value	Type
Pfam:Innexin	33	256	2.1e-16	PFAM
transmembrane domain	274	296	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166933

Predicted Effect

probably benign
Transcript: ENSMUST00000169288

Meta Mutation Damage Score

0.7008

Coding Region Coverage

1x: 99.6%
3x: 99.1%
10x: 97.5%
20x: 94.7%

Validation Efficiency

95% (58/61)

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 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired macrophage recruitment, YO-PRO-1 dye uptake, ATP release by apoptotic thymocytes, hippocampal neurons, and astrocytes. Mice homozygous for a different knock-out allele exhibit protection from I/R-induced retinal ganglion cell loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	T	C	7: 136,978,090 (GRCm39)		probably benign	Het
Arih1	A	G	9: 59,302,154 (GRCm39)		probably benign	Het
Bcl9	T	C	3: 97,113,102 (GRCm39)	I1118V	probably benign	Het
Cap1	T	C	4: 122,766,202 (GRCm39)	E12G	probably damaging	Het
Ccdc168	T	A	1: 44,099,127 (GRCm39)	K657I	possibly damaging	Het
Ccr2	A	G	9: 123,906,658 (GRCm39)	I313V	probably benign	Het
Cd1d2	T	C	3: 86,895,110 (GRCm39)	S161P	probably benign	Het
Cd226	C	T	18: 89,287,135 (GRCm39)	T311I	probably benign	Het
Col25a1	A	G	3: 130,369,063 (GRCm39)		probably null	Het
Cspg4	T	C	9: 56,795,301 (GRCm39)	F1012S	probably damaging	Het
Dnah7b	A	G	1: 46,364,002 (GRCm39)	M3541V	probably damaging	Het
Erbb2	G	A	11: 98,325,097 (GRCm39)	V852M	probably damaging	Het
Fer1l6	A	C	15: 58,449,794 (GRCm39)	T667P	probably damaging	Het
Gal3st2c	A	G	1: 93,936,901 (GRCm39)	Y282C	probably damaging	Het
Glp1r	T	C	17: 31,128,201 (GRCm39)	L60P	probably benign	Het
Gtf2h2	A	G	13: 100,605,533 (GRCm39)	V358A	probably benign	Het
H2ac18	T	C	3: 96,152,866 (GRCm39)		probably benign	Het
Hephl1	T	A	9: 15,000,347 (GRCm39)	I302F	probably damaging	Het
Lgi2	T	C	5: 52,711,765 (GRCm39)	D185G	probably damaging	Het
Lrtm1	T	C	14: 28,744,179 (GRCm39)		probably benign	Het
Megf10	T	G	18: 57,395,172 (GRCm39)	D511E	probably damaging	Het
Myo5c	A	G	9: 75,173,478 (GRCm39)		probably null	Het
Nrbf2	G	A	10: 67,103,605 (GRCm39)	T166M	probably damaging	Het
Nrm	C	A	17: 36,175,156 (GRCm39)	Y61*	probably null	Het
Ola1	A	G	2: 72,924,056 (GRCm39)	Y368H	probably damaging	Het
Or52s1	A	C	7: 102,861,787 (GRCm39)	H229P	possibly damaging	Het
Or9i1b	A	G	19: 13,897,145 (GRCm39)	T254A	probably benign	Het
Or9q2	T	C	19: 13,772,026 (GRCm39)		probably null	Het
Pappa2	A	G	1: 158,590,625 (GRCm39)		probably benign	Het
Parp6	A	G	9: 59,556,648 (GRCm39)		probably benign	Het
Pomgnt2	A	G	9: 121,811,339 (GRCm39)	Y481H	probably benign	Het
Ppp4c	A	G	7: 126,388,254 (GRCm39)		probably benign	Het
Prl8a8	T	A	13: 27,692,533 (GRCm39)		probably benign	Het
Prpf40b	C	A	15: 99,202,352 (GRCm39)	A70E	unknown	Het
Ptgfr	G	A	3: 151,540,839 (GRCm39)	T223M	probably damaging	Het
Ptprc	C	T	1: 138,017,223 (GRCm39)		probably benign	Het
Rgs22	T	C	15: 36,140,018 (GRCm39)		probably benign	Het
Rpgrip1	A	G	14: 52,371,313 (GRCm39)	E344G	possibly damaging	Het
Sgca	A	T	11: 94,854,061 (GRCm39)	I383N	possibly damaging	Het
Sgms2	T	A	3: 131,118,756 (GRCm39)		probably null	Het
Slc9b1	C	A	3: 135,103,516 (GRCm39)	Q549K	probably benign	Het
Smc4	G	C	3: 68,916,871 (GRCm39)	A187P	probably damaging	Het
Smco1	A	G	16: 32,092,062 (GRCm39)	S47G	probably damaging	Het
Sobp	T	A	10: 42,898,385 (GRCm39)	E400V	probably damaging	Het
Sp140l1	C	G	1: 85,077,226 (GRCm39)	K113N	probably benign	Het
Stil	T	A	4: 114,881,620 (GRCm39)		probably benign	Het
Sult3a2	A	T	10: 33,658,044 (GRCm39)	M23K	probably benign	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tcof1	C	A	18: 60,966,605 (GRCm39)	G329W	probably damaging	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Vmn1r171	G	T	7: 23,332,602 (GRCm39)	V276L	probably benign	Het
Vps13b	T	C	15: 35,422,514 (GRCm39)	L158P	probably damaging	Het
Vps54	A	G	11: 21,256,434 (GRCm39)	I634M	possibly damaging	Het
Vwa8	T	G	14: 79,258,060 (GRCm39)	S736R	probably benign	Het

Other mutations in Panx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Panx1	APN	9	14,919,140 (GRCm39)	missense	probably damaging	0.97
IGL01364:Panx1	APN	9	14,932,761 (GRCm39)	missense	probably damaging	1.00
IGL02831:Panx1	APN	9	14,918,944 (GRCm39)	missense	probably damaging	1.00
IGL02861:Panx1	APN	9	14,919,101 (GRCm39)	missense	probably benign
cathedral	UTSW	9	14,918,929 (GRCm39)	missense	possibly damaging	0.53
elephant	UTSW	9	14,921,513 (GRCm39)	missense	probably damaging	1.00
notre_dame	UTSW	9	14,921,513 (GRCm39)	missense	probably damaging	1.00
R0422:Panx1	UTSW	9	14,919,112 (GRCm39)	nonsense	probably null
R1509:Panx1	UTSW	9	14,921,341 (GRCm39)	missense	possibly damaging	0.53
R1681:Panx1	UTSW	9	14,919,079 (GRCm39)	missense	probably benign	0.13
R1862:Panx1	UTSW	9	14,918,724 (GRCm39)	missense	probably damaging	1.00
R1895:Panx1	UTSW	9	14,918,822 (GRCm39)	missense	probably benign	0.13
R1937:Panx1	UTSW	9	14,918,980 (GRCm39)	missense	possibly damaging	0.68
R1946:Panx1	UTSW	9	14,918,822 (GRCm39)	missense	probably benign	0.13
R2447:Panx1	UTSW	9	14,956,185 (GRCm39)	missense	probably damaging	0.99
R3732:Panx1	UTSW	9	14,917,467 (GRCm39)	unclassified	probably benign
R3732:Panx1	UTSW	9	14,917,467 (GRCm39)	unclassified	probably benign
R3733:Panx1	UTSW	9	14,917,467 (GRCm39)	unclassified	probably benign
R3734:Panx1	UTSW	9	14,917,467 (GRCm39)	unclassified	probably benign
R3958:Panx1	UTSW	9	14,917,467 (GRCm39)	unclassified	probably benign
R3960:Panx1	UTSW	9	14,917,467 (GRCm39)	unclassified	probably benign
R4744:Panx1	UTSW	9	14,921,594 (GRCm39)	intron	probably benign
R4990:Panx1	UTSW	9	14,921,513 (GRCm39)	missense	probably damaging	1.00
R5272:Panx1	UTSW	9	14,956,152 (GRCm39)	critical splice donor site	probably null
R5556:Panx1	UTSW	9	14,918,929 (GRCm39)	missense	possibly damaging	0.53
R5935:Panx1	UTSW	9	14,921,513 (GRCm39)	missense	probably damaging	1.00
R6126:Panx1	UTSW	9	14,919,086 (GRCm39)	missense	probably benign	0.38
R6683:Panx1	UTSW	9	14,919,307 (GRCm39)	missense	probably benign	0.41
R6743:Panx1	UTSW	9	14,918,929 (GRCm39)	missense	possibly damaging	0.53
R6873:Panx1	UTSW	9	14,921,513 (GRCm39)	missense	probably damaging	1.00
R7944:Panx1	UTSW	9	14,919,125 (GRCm39)	missense	probably damaging	1.00
R8061:Panx1	UTSW	9	14,956,297 (GRCm39)	missense	possibly damaging	0.58
Z1177:Panx1	UTSW	9	14,919,110 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCACTCTTGGCAATCAGCAC -3'
(R):5'- GAGTTCGTCCCTGAAATGAGGTCAC -3'

Sequencing Primer
(F):5'- TGCCTATGGACAGCCCTC -3'
(R):5'- TGAGGTCACAAGTAGCTCCTG -3'

Posted On

2013-07-11