Mutagenetix > Incidental Mutation

Incidental Mutation 'R8030:Panx2'

617917

Institutional Source

Beutler Lab

Gene Symbol

Panx2

Ensembl Gene

ENSMUSG00000058441

Gene Name

pannexin 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8030 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88943937-88957770 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 88952282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 250 (A250S)

Ref Sequence

ENSEMBL: ENSMUSP00000124354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161372] [ENSMUST00000162424]

AlphaFold

Q6IMP4

Predicted Effect

probably benign
Transcript: ENSMUST00000159960

Predicted Effect

probably damaging
Transcript: ENSMUST00000161372
AA Change: A258S

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

SMART Domains

Protein: ENSMUSP00000125514
Gene: ENSMUSG00000058441
AA Change: A258S

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

probably damaging
Transcript: ENSMUST00000162424
AA Change: A250S

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

SMART Domains

Protein: ENSMUSP00000124354
Gene: ENSMUSG00000058441
AA Change: A250S

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

Coding Region Coverage

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

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B09Rik	A	G	9: 14,672,970 (GRCm39)	S98P	probably benign	Het
Abca9	C	T	11: 110,011,534 (GRCm39)	V1170I	probably benign	Het
Acacb	A	G	5: 114,371,228 (GRCm39)	T1786A	probably damaging	Het
Acmsd	T	C	1: 127,676,898 (GRCm39)	I141T	possibly damaging	Het
Akr1c12	A	G	13: 4,322,244 (GRCm39)	V266A	possibly damaging	Het
Arhgef18	A	T	8: 3,489,600 (GRCm39)	I311F	probably damaging	Het
Armc2	T	A	10: 41,842,738 (GRCm39)	N355I	possibly damaging	Het
Armh1	T	A	4: 117,087,184 (GRCm39)	K160N	probably benign	Het
Asic1	A	T	15: 99,592,722 (GRCm39)	T236S	possibly damaging	Het
Avl9	T	A	6: 56,718,407 (GRCm39)	D424E	probably damaging	Het
Cbfa2t2	A	T	2: 154,357,816 (GRCm39)	Q197L	probably damaging	Het
Ccdc136	T	C	6: 29,417,141 (GRCm39)	V654A	probably benign	Het
Cd177	C	T	7: 24,455,594 (GRCm39)	W309*	probably null	Het
Cplane1	G	T	15: 8,259,787 (GRCm39)	G2383V	probably damaging	Het
Cracr2a	A	G	6: 127,588,386 (GRCm39)	K182E	probably damaging	Het
Dpys	T	C	15: 39,691,486 (GRCm39)	T279A	possibly damaging	Het
Dsc1	A	T	18: 20,222,628 (GRCm39)	S615T	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Efcab14	A	G	4: 115,623,599 (GRCm39)	Q390R	probably benign	Het
Eif4ebp2	G	A	10: 61,270,825 (GRCm39)	A68V	probably damaging	Het
Fam81a	A	G	9: 70,010,191 (GRCm39)	S149P	probably benign	Het
Ffar4	A	G	19: 38,095,839 (GRCm39)	I193V	possibly damaging	Het
Flvcr2	T	A	12: 85,845,312 (GRCm39)	V377D	probably damaging	Het
Fscn1	C	T	5: 142,946,756 (GRCm39)	R185C	possibly damaging	Het
Gucy1b2	C	T	14: 62,630,319 (GRCm39)	S809N	probably benign	Het
H60b	T	A	10: 22,163,020 (GRCm39)	N198K	probably damaging	Het
Helz2	A	T	2: 180,879,689 (GRCm39)	F643Y	possibly damaging	Het
Kash5	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	7: 44,837,608 (GRCm39)		probably benign	Het
Kif28	A	G	1: 179,526,629 (GRCm39)	V846A	probably benign	Het
Kirrel1	C	A	3: 87,005,082 (GRCm39)	G89W	probably damaging	Het
Krt42	G	C	11: 100,155,865 (GRCm39)	R294G	possibly damaging	Het
Mb21d2	A	G	16: 28,646,555 (GRCm39)	F473S	probably damaging	Het
Mcrip2	G	A	17: 26,083,306 (GRCm39)	Q111*	probably null	Het
Msh5	A	G	17: 35,248,724 (GRCm39)	Y741H	possibly damaging	Het
Myo7b	A	G	18: 32,131,135 (GRCm39)	I544T	probably damaging	Het
Nav1	T	C	1: 135,464,977 (GRCm39)	E276G	probably damaging	Het
Nr2f1	T	C	13: 78,343,565 (GRCm39)	N233S	probably benign	Het
Nrip2	A	T	6: 128,383,484 (GRCm39)	D124V	possibly damaging	Het
Or5al1	C	T	2: 85,990,586 (GRCm39)	V43I	probably benign	Het
Or8k16	T	A	2: 85,520,063 (GRCm39)	C97S	probably damaging	Het
Pdc	T	C	1: 150,208,964 (GRCm39)	L149P	probably damaging	Het
Pex5l	T	A	3: 33,008,568 (GRCm39)	I445F	possibly damaging	Het
Pigc	T	C	1: 161,798,116 (GRCm39)	F33L	probably damaging	Het
Pkp2	A	T	16: 16,064,774 (GRCm39)	M433L	probably benign	Het
Rbfox2	A	G	15: 76,969,776 (GRCm39)		probably null	Het
Rd3l	A	G	12: 111,946,584 (GRCm39)	L64P	possibly damaging	Het
Rnf220	A	G	4: 117,135,025 (GRCm39)	Y409H	probably damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Sel1l2	T	C	2: 140,082,938 (GRCm39)	T567A	probably damaging	Het
Slc22a8	T	C	19: 8,587,371 (GRCm39)	I477T	probably damaging	Het
Sltm	C	T	9: 70,493,261 (GRCm39)	R753*	probably null	Het
Specc1l	T	A	10: 75,084,389 (GRCm39)	M687K	probably damaging	Het
Spock3	T	G	8: 63,805,232 (GRCm39)	C338G	probably damaging	Het
Ssh2	C	A	11: 77,345,332 (GRCm39)	Q1106K	probably benign	Het
Sycp2l	A	G	13: 41,326,146 (GRCm39)	M251V	not run	Het
Tdrd5	C	A	1: 156,098,165 (GRCm39)	E711*	probably null	Het
Thop1	T	C	10: 80,911,450 (GRCm39)	M112T	possibly damaging	Het
Tln1	C	T	4: 43,535,737 (GRCm39)		probably null	Het
Ttc28	A	C	5: 111,433,922 (GRCm39)	I2319L	possibly damaging	Het
Ttll11	A	G	2: 35,792,685 (GRCm39)	I386T	probably damaging	Het
Txndc8	T	C	4: 57,984,178 (GRCm39)	E151G	probably damaging	Het
Ubr1	T	C	2: 120,764,855 (GRCm39)	E533G	probably damaging	Het
Zscan4f	A	G	7: 11,135,290 (GRCm39)	H232R	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
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
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'- AGATCATTGAGAACGCCGAG -3'
(R):5'- GCGTCTTGATACCCACCTTG -3'

Sequencing Primer
(F):5'- TCATTGAGAACGCCGAGAAGGAG -3'
(R):5'- CGAAGATGAAGTTGCTCTTGC -3'

Posted On

2020-01-23