Mutagenetix > Incidental Mutation

Incidental Mutation 'R0422:Panx1'

37128

Institutional Source

Beutler Lab

Gene Symbol

Panx1

Ensembl Gene

ENSMUSG00000031934

Gene Name

pannexin 1

Synonyms

MMRRC Submission

038624-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0422 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14917081-14956774 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 14919112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 249 (S249*)

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 null
Transcript: ENSMUST00000164273
AA Change: S249*

SMART Domains

Protein: ENSMUSP00000126405
Gene: ENSMUSG00000031934
AA Change: S249*

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

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 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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	T	A	7: 119,372,963 (GRCm39)	Y155*	probably null	Het
Adamts16	A	G	13: 70,887,074 (GRCm39)	C937R	probably damaging	Het
Akna	T	C	4: 63,310,391 (GRCm39)	D451G	probably damaging	Het
Alox12	A	T	11: 70,145,384 (GRCm39)	V63E	probably damaging	Het
Ap3b1	T	C	13: 94,598,968 (GRCm39)	I514T	probably damaging	Het
Arhgap23	T	C	11: 97,354,478 (GRCm39)	M286T	probably damaging	Het
Cdkl2	T	C	5: 92,168,171 (GRCm39)	D341G	probably benign	Het
Clip2	T	C	5: 134,526,967 (GRCm39)	D813G	probably benign	Het
Cntnap3	A	G	13: 64,905,099 (GRCm39)	V894A	probably damaging	Het
Coro2b	T	A	9: 62,335,259 (GRCm39)	Y304F	probably benign	Het
Dclre1a	T	A	19: 56,532,567 (GRCm39)	K676*	probably null	Het
Dmxl2	A	G	9: 54,307,224 (GRCm39)		probably null	Het
Dpep3	A	G	8: 106,702,750 (GRCm39)		probably null	Het
Efna5	C	T	17: 62,914,414 (GRCm39)	A177T	probably benign	Het
Fabp1	G	A	6: 71,180,077 (GRCm39)	V83I	possibly damaging	Het
H2-DMa	G	T	17: 34,356,921 (GRCm39)	G140C	probably damaging	Het
Hectd4	T	A	5: 121,481,145 (GRCm39)		probably null	Het
Hyou1	T	A	9: 44,300,539 (GRCm39)	N869K	probably damaging	Het
Ing1	G	A	8: 11,611,933 (GRCm39)	V124I	probably damaging	Het
Kalrn	T	A	16: 34,134,643 (GRCm39)	I380F	probably damaging	Het
Kcnh1	A	G	1: 192,019,888 (GRCm39)	I378V	probably benign	Het
Kmt2c	A	G	5: 25,520,662 (GRCm39)	V1816A	probably benign	Het
Matn2	G	A	15: 34,435,917 (GRCm39)		probably null	Het
Naip2	C	T	13: 100,297,621 (GRCm39)	S805N	probably benign	Het
Napsa	A	C	7: 44,234,530 (GRCm39)	Q254P	probably damaging	Het
Nat10	G	T	2: 103,557,074 (GRCm39)	S860*	probably null	Het
Nipbl	T	C	15: 8,381,112 (GRCm39)	D560G	probably benign	Het
Nr3c2	A	G	8: 77,912,596 (GRCm39)	M736V	probably benign	Het
Or4k44	A	T	2: 111,368,328 (GRCm39)	F102Y	probably damaging	Het
Or7e174	A	T	9: 20,012,744 (GRCm39)	R230*	probably null	Het
Or8u8	A	T	2: 86,011,566 (GRCm39)	D296E	probably benign	Het
Palm3	A	G	8: 84,755,492 (GRCm39)	S335G	possibly damaging	Het
Parvb	A	G	15: 84,179,812 (GRCm39)	T231A	probably benign	Het
Pcdhb11	G	T	18: 37,554,923 (GRCm39)	L84F	probably damaging	Het
Pi4k2b	T	C	5: 52,925,096 (GRCm39)	*447Q	probably null	Het
Ppp1r1a	A	G	15: 103,440,783 (GRCm39)	S125P	probably benign	Het
Prss1	T	A	6: 41,440,246 (GRCm39)	D194E	probably damaging	Het
Rnf216	A	T	5: 143,001,409 (GRCm39)	C772*	probably null	Het
Rnf216	A	T	5: 143,076,125 (GRCm39)	F253Y	probably benign	Het
Rsf1	A	T	7: 97,330,024 (GRCm39)	E1183D	probably benign	Het
Rusc1	T	C	3: 88,994,132 (GRCm39)	T958A	probably benign	Het
Rxfp1	A	G	3: 79,558,038 (GRCm39)	M480T	probably benign	Het
Slc22a16	T	A	10: 40,467,886 (GRCm39)	V473E	probably damaging	Het
Slc26a3	A	G	12: 31,515,848 (GRCm39)	T583A	possibly damaging	Het
Slc7a15	T	C	12: 8,584,400 (GRCm39)	T117A	probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Slitrk6	T	A	14: 110,989,725 (GRCm39)		probably benign	Het
Spata31g1	T	C	4: 42,972,199 (GRCm39)	S511P	possibly damaging	Het
Spata7	A	G	12: 98,624,524 (GRCm39)	Y110C	probably damaging	Het
Supt16	T	A	14: 52,421,453 (GRCm39)	I31F	probably benign	Het
Taar7a	T	C	10: 23,869,172 (GRCm39)	T70A	probably benign	Het
Top2a	A	G	11: 98,900,679 (GRCm39)	F594L	probably damaging	Het
Unc13d	C	T	11: 115,960,846 (GRCm39)		probably null	Het
Unc80	T	G	1: 66,522,497 (GRCm39)	V233G	probably damaging	Het
Wdr91	A	T	6: 34,857,781 (GRCm39)	D735E	probably damaging	Het
Zzef1	A	G	11: 72,756,917 (GRCm39)	T1141A	possibly damaging	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
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
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'- TTCTGCCGGAATGGGATGAAGAAC -3'
(R):5'- CCGTGCCTTTCACACTTGATGAGAC -3'

Sequencing Primer
(F):5'- ACGTGTAGACGACCACGG -3'
(R):5'- GATATCTGAAAGCCACTTCAAGTACC -3'

Posted On

2013-05-09