Mutagenetix > Incidental Mutation

Incidental Mutation 'R8061:Panx1'

619712

Institutional Source

Beutler Lab

Gene Symbol

Panx1

Ensembl Gene

ENSMUSG00000031934

Gene Name

pannexin 1

Synonyms

MMRRC Submission

067497-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14917081-14956774 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14956297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 13 (S13P)

Ref Sequence

ENSEMBL: ENSMUSP00000126405 (fasta)

Gene Model

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

AlphaFold

Q9JIP4

Predicted Effect

probably benign
Transcript: ENSMUST00000056755
AA Change: S13P

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000053557
Gene: ENSMUSG00000031934
AA Change: S13P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164273
AA Change: S13P

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126405
Gene: ENSMUSG00000031934
AA Change: S13P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169288

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	G	A	5: 115,255,710 (GRCm39)	R42C	probably benign	Het
Agrn	G	A	4: 156,263,411 (GRCm39)	R338C	probably damaging	Het
Anapc1	T	C	2: 128,490,408 (GRCm39)	E1008G	probably damaging	Het
Art5	A	T	7: 101,747,456 (GRCm39)	Y108N	possibly damaging	Het
As3mt	G	A	19: 46,728,982 (GRCm39)	C369Y	probably damaging	Het
Asb3	A	G	11: 30,948,447 (GRCm39)	N41S	probably damaging	Het
Astn1	G	A	1: 158,331,920 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,657,300 (GRCm39)	M1770K	possibly damaging	Het
Atp8b2	T	C	3: 89,853,527 (GRCm39)		probably benign	Het
Cfap300	A	G	9: 8,042,672 (GRCm39)	W37R	probably damaging	Het
Chrm1	T	C	19: 8,656,518 (GRCm39)	Y408H	possibly damaging	Het
Chst2	T	C	9: 95,287,224 (GRCm39)	H374R	probably damaging	Het
Cnot1	A	G	8: 96,491,655 (GRCm39)	F390L	possibly damaging	Het
Comt	T	C	16: 18,230,040 (GRCm39)	Y100C	probably benign	Het
Cyria	G	T	12: 12,412,028 (GRCm39)	A150S	possibly damaging	Het
Dclk2	T	C	3: 86,720,981 (GRCm39)		probably benign	Het
Dicer1	G	A	12: 104,669,077 (GRCm39)	Q1202*	probably null	Het
Disp1	C	T	1: 182,869,151 (GRCm39)	V1090M	probably damaging	Het
Dnajc28	T	C	16: 91,414,058 (GRCm39)	D62G	possibly damaging	Het
Dock1	C	T	7: 134,374,052 (GRCm39)	T566I	probably benign	Het
Dop1a	T	G	9: 86,403,246 (GRCm39)	M18R	possibly damaging	Het
Dop1b	T	C	16: 93,546,884 (GRCm39)	L296P	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Efcab3	A	T	11: 104,997,275 (GRCm39)	D155V	probably benign	Het
Ehmt2	T	C	17: 35,124,903 (GRCm39)	S465P	possibly damaging	Het
Eno1b	G	A	18: 48,180,725 (GRCm39)	W301*	probably null	Het
Fpgt	A	G	3: 154,792,903 (GRCm39)	S375P	probably benign	Het
Gas2l1	G	A	11: 5,011,785 (GRCm39)	S348F	possibly damaging	Het
Gen1	A	T	12: 11,311,077 (GRCm39)		probably benign	Het
Ice1	A	T	13: 70,751,851 (GRCm39)	C1412S	probably damaging	Het
Iqcn	A	G	8: 71,161,224 (GRCm39)	E139G	probably benign	Het
Klhl2	A	C	8: 65,211,257 (GRCm39)	L264V	probably damaging	Het
Lars2	A	G	9: 123,288,562 (GRCm39)	T803A	probably benign	Het
Ldb2	T	A	5: 44,637,612 (GRCm39)	K232M	probably damaging	Het
Lix1	G	A	17: 17,663,938 (GRCm39)	R92Q	probably damaging	Het
Meig1	C	T	2: 3,410,240 (GRCm39)	V87I	not run	Het
Mitf	A	C	6: 97,970,259 (GRCm39)	S176R	probably damaging	Het
Myh7	A	G	14: 55,228,398 (GRCm39)	V236A	probably benign	Het
Myo5a	T	A	9: 75,030,239 (GRCm39)	Y119*	probably null	Het
Ncapg2	A	G	12: 116,390,197 (GRCm39)	N382S	probably benign	Het
Neu2	C	T	1: 87,524,633 (GRCm39)	P206L	probably damaging	Het
Or2h2b-ps1	A	G	17: 37,480,792 (GRCm39)	F147S	probably damaging	Het
Osbpl5	C	T	7: 143,256,461 (GRCm39)	R454Q	probably benign	Het
Pde2a	A	G	7: 101,153,179 (GRCm39)	D413G	probably benign	Het
Plcb1	A	T	2: 135,188,316 (GRCm39)	Y803F	probably benign	Het
Prrc2a	T	C	17: 35,380,162 (GRCm39)		probably benign	Het
Pth2r	T	A	1: 65,382,660 (GRCm39)	Y143N	possibly damaging	Het
Ptpn4	C	T	1: 119,619,330 (GRCm39)		probably null	Het
Rapgef3	T	C	15: 97,659,401 (GRCm39)	Y112C	probably benign	Het
Rusc2	A	G	4: 43,422,492 (GRCm39)	N907S	probably damaging	Het
Scn7a	T	A	2: 66,522,938 (GRCm39)	N922I	probably damaging	Het
Shprh	T	C	10: 11,088,077 (GRCm39)	V1620A	possibly damaging	Het
Slc25a54	T	A	3: 109,018,361 (GRCm39)	S280R	probably damaging	Het
Slc30a5	T	C	13: 100,965,419 (GRCm39)	I63M	probably damaging	Het
Smg1	A	T	7: 117,751,610 (GRCm39)	V2817E	unknown	Het
Sprr3	T	C	3: 92,364,184 (GRCm39)	E220G	probably damaging	Het
Tcf21	T	C	10: 22,695,762 (GRCm39)	E14G	probably benign	Het
Tenm4	A	G	7: 96,501,663 (GRCm39)	D1289G	probably damaging	Het
Tmem121b	C	A	6: 120,469,064 (GRCm39)	G551V	probably damaging	Het
Tpk1	A	G	6: 43,323,778 (GRCm39)	S224P	probably damaging	Het
Trib1	T	C	15: 59,523,404 (GRCm39)	I146T	probably damaging	Het
Ttc32	T	A	12: 9,084,953 (GRCm39)	Y58N	probably damaging	Het
Vcan	T	A	13: 89,805,409 (GRCm39)	I3336L	probably benign	Het
Vmn1r200	C	A	13: 22,579,453 (GRCm39)	Y85*	probably null	Het
Vps39	T	C	2: 120,174,692 (GRCm39)	I97V	probably benign	Het
Zan	T	A	5: 137,434,893 (GRCm39)	I2167F	unknown	Het
Zfp37	A	T	4: 62,109,665 (GRCm39)	Y507*	probably null	Het
Zfp39	A	G	11: 58,793,573 (GRCm39)	V55A	probably benign	Het
Zfp616	A	T	11: 73,974,340 (GRCm39)	N294I	possibly damaging	Het
Zfp729a	T	C	13: 67,768,208 (GRCm39)	T674A	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
R0602:Panx1	UTSW	9	14,921,500 (GRCm39)	missense	probably damaging	1.00
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
Z1177:Panx1	UTSW	9	14,919,110 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGTGAAATTTCTCAGCAACCAAC -3'
(R):5'- ACAGCCAAGGCGGTACAATG -3'

Sequencing Primer
(F):5'- ATGCCAGCCTAGCCCAG -3'
(R):5'- AGGCGGTACAATGCTGGGC -3'

Posted On

2020-01-23