Mutagenetix > Incidental Mutation

Incidental Mutation 'R6255:Panx2'

506074

Institutional Source

Beutler Lab

Gene Symbol

Panx2

Ensembl Gene

ENSMUSG00000058441

Gene Name

pannexin 2

Synonyms

MMRRC Submission

044372-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88943937-88957770 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88951821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 96 (R96H)

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 damaging
Transcript: ENSMUST00000161372
AA Change: R104H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125514
Gene: ENSMUSG00000058441
AA Change: R104H

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 damaging
Transcript: ENSMUST00000162424
AA Change: R96H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124354
Gene: ENSMUSG00000058441
AA Change: R96H

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

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,602,659 (GRCm39)	V7E	possibly damaging	Het
Aars2	G	A	17: 45,825,535 (GRCm39)	G333S	probably damaging	Het
Aen	T	A	7: 78,555,592 (GRCm39)	I85N	probably damaging	Het
Ahnak	C	A	19: 8,985,389 (GRCm39)	H2224Q	possibly damaging	Het
Aldh18a1	C	T	19: 40,568,487 (GRCm39)	R41H	possibly damaging	Het
Bpifb9b	T	A	2: 154,151,284 (GRCm39)	W2R	probably damaging	Het
Caprin2	A	G	6: 148,779,390 (GRCm39)	I139T	probably benign	Het
Cdhr3	T	A	12: 33,103,474 (GRCm39)	N381I	probably damaging	Het
Cecr2	A	G	6: 120,735,011 (GRCm39)	Y721C	probably damaging	Het
Cfhr4	A	T	1: 139,680,749 (GRCm39)	C256*	probably null	Het
Cherp	G	T	8: 73,224,725 (GRCm39)	A125D	probably damaging	Het
Cped1	G	A	6: 22,138,714 (GRCm39)		probably null	Het
Ctdp1	T	A	18: 80,502,512 (GRCm39)		probably null	Het
Cyp2c55	T	C	19: 39,007,111 (GRCm39)	I169T	probably benign	Het
Cyp4a31	T	C	4: 115,432,117 (GRCm39)	L418P	possibly damaging	Het
Efcab7	T	C	4: 99,717,627 (GRCm39)		probably benign	Het
Efcab8	T	C	2: 153,652,188 (GRCm39)	W466R	possibly damaging	Het
Ehd3	C	A	17: 74,112,408 (GRCm39)	N57K	probably benign	Het
Ern2	C	A	7: 121,772,495 (GRCm39)	K654N	probably damaging	Het
Fbh1	A	T	2: 11,753,257 (GRCm39)	F879L	probably benign	Het
Gde1	T	C	7: 118,291,004 (GRCm39)	D92G	probably null	Het
Heatr5b	A	G	17: 79,110,863 (GRCm39)	V995A	probably damaging	Het
Ifrd2	A	G	9: 107,469,290 (GRCm39)	E346G	probably damaging	Het
Ism1	AACGGACCCGTTCTTGTGGCTATGCA	AA	2: 139,587,962 (GRCm39)		probably benign	Het
Itgb4	T	C	11: 115,888,963 (GRCm39)	V1102A	possibly damaging	Het
Itgb6	A	T	2: 60,435,620 (GRCm39)	I710N	probably damaging	Het
Kif1a	T	C	1: 92,947,705 (GRCm39)	K1578E	probably damaging	Het
Kif9	T	C	9: 110,346,902 (GRCm39)		probably null	Het
Kitl	T	C	10: 99,925,095 (GRCm39)	*57Q	probably null	Het
Lrat	C	A	3: 82,810,812 (GRCm39)	V70F	probably damaging	Het
Lrrc9	T	A	12: 72,533,797 (GRCm39)	M1022K	probably benign	Het
Muc16	T	C	9: 18,566,895 (GRCm39)	T1875A	unknown	Het
Mup4	T	A	4: 59,957,890 (GRCm39)	N171I	probably damaging	Het
Npas4	G	A	19: 5,036,403 (GRCm39)	T587I	probably damaging	Het
Oas3	A	G	5: 120,909,295 (GRCm39)	V217A	probably benign	Het
Or6c1b	A	G	10: 129,273,557 (GRCm39)	N292S	possibly damaging	Het
Osbp	C	A	19: 11,955,317 (GRCm39)	A323D	possibly damaging	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Piezo2	T	C	18: 63,254,341 (GRCm39)	R385G	possibly damaging	Het
Pkn2	T	C	3: 142,517,360 (GRCm39)	T476A	probably damaging	Het
Plekha4	T	C	7: 45,203,226 (GRCm39)		probably benign	Het
Ppfibp2	T	C	7: 107,280,969 (GRCm39)	S94P	probably damaging	Het
Pramel7	T	A	2: 87,320,007 (GRCm39)	I429L	probably benign	Het
Rif1	A	G	2: 51,975,065 (GRCm39)	K325E	probably damaging	Het
Ror2	T	C	13: 53,264,578 (GRCm39)	Y826C	probably damaging	Het
Rsph10b	G	A	5: 143,896,564 (GRCm39)	G19R	probably damaging	Het
Slc20a1	A	G	2: 129,049,924 (GRCm39)	N361D	probably damaging	Het
Slc26a9	A	G	1: 131,691,647 (GRCm39)	D630G	probably benign	Het
Smtnl2	G	A	11: 72,292,225 (GRCm39)	A274V	probably damaging	Het
Trank1	T	C	9: 111,181,314 (GRCm39)		probably null	Het
Tspan10	T	A	11: 120,335,368 (GRCm39)	C159*	probably null	Het
Uba6	G	A	5: 86,312,624 (GRCm39)	T23I	probably benign	Het
Vmn2r74	T	C	7: 85,601,659 (GRCm39)	T660A	possibly damaging	Het
Vwa5b1	T	C	4: 138,305,983 (GRCm39)	N905S	probably benign	Het
Zfp831	T	C	2: 174,488,214 (GRCm39)	L963P	possibly damaging	Het
Zfp990	T	A	4: 145,264,359 (GRCm39)	N452K	probably benign	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
IGL02112:Panx2	APN	15	88,953,772 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TAGAGCCCATGAACCTGAGAAC -3'
(R):5'- CTGAAGAAGGAAGTTGAGCTCC -3'

Sequencing Primer
(F):5'- CATAGGGACTGGGTCTGAGC -3'
(R):5'- AGTTGAGCTCCGAGGTGAG -3'

Posted On

2018-02-28