Mutagenetix > Incidental Mutation

Incidental Mutation 'R5176:Panx2'

399334

Institutional Source

Beutler Lab

Gene Symbol

Panx2

Ensembl Gene

ENSMUSG00000058441

Gene Name

pannexin 2

Synonyms

MMRRC Submission

042756-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5176 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

88943937-88957770 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 88944431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 52 (R52L)

Ref Sequence

ENSEMBL: ENSMUSP00000124354 (fasta)

Gene Model

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

AlphaFold

Q6IMP4

Predicted Effect

probably damaging
Transcript: ENSMUST00000161372
AA Change: R52L

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

SMART Domains

Protein: ENSMUSP00000125514
Gene: ENSMUSG00000058441
AA Change: R52L

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: R52L

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

SMART Domains

Protein: ENSMUSP00000124354
Gene: ENSMUSG00000058441
AA Change: R52L

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

Meta Mutation Damage Score

0.8617

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (69/70)

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 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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	C	A	10: 79,834,123 (GRCm39)	H116Q	probably benign	Het
Akap12	G	T	10: 4,303,947 (GRCm39)	E252D	probably benign	Het
Apobr	A	G	7: 126,184,188 (GRCm39)	D2G	probably damaging	Het
Arhgef12	A	T	9: 42,931,982 (GRCm39)	H168Q	probably damaging	Het
Asb3	T	A	11: 31,031,357 (GRCm39)		probably null	Het
Brip1	T	C	11: 85,968,710 (GRCm39)	Y825C	probably damaging	Het
Cacna1b	A	T	2: 24,525,143 (GRCm39)	Y1679N	probably damaging	Het
Ccdc69	C	T	11: 54,951,296 (GRCm39)	A42T	probably benign	Het
Cds1	G	T	5: 101,929,286 (GRCm39)	D55Y	possibly damaging	Het
Cep135	C	A	5: 76,784,873 (GRCm39)	D989E	probably benign	Het
Cpsf6	C	A	10: 117,197,189 (GRCm39)		probably benign	Het
Ctif	C	T	18: 75,770,290 (GRCm39)	V32M	probably damaging	Het
Cylc2	T	C	4: 51,228,587 (GRCm39)		probably benign	Het
Dao	T	C	5: 114,158,070 (GRCm39)		probably null	Het
Dop1a	T	A	9: 86,403,868 (GRCm39)	N1689K	probably damaging	Het
Dop1b	A	G	16: 93,536,931 (GRCm39)	Y14C	probably damaging	Het
Fam187a	C	T	11: 102,777,290 (GRCm39)	R365C	probably damaging	Het
Fastkd2	A	G	1: 63,770,598 (GRCm39)		probably benign	Het
Fhip2a	A	G	19: 57,359,613 (GRCm39)	N51S	probably damaging	Het
Fkbp15	G	T	4: 62,230,560 (GRCm39)	L718I	possibly damaging	Het
Gabbr2	C	A	4: 46,681,208 (GRCm39)	V118F	probably damaging	Het
Gm13991	T	A	2: 116,358,508 (GRCm39)		noncoding transcript	Het
H2-M9	T	C	17: 36,952,523 (GRCm39)	I174M	probably damaging	Het
Ift70a2	T	C	2: 75,807,421 (GRCm39)	M364V	probably benign	Het
Insr	T	A	8: 3,208,742 (GRCm39)	M1240L	probably benign	Het
Ints15	G	T	5: 143,300,830 (GRCm39)	S7*	probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Mad2l1bp	T	A	17: 46,463,738 (GRCm39)	E95D	probably benign	Het
Marchf9	T	C	10: 126,895,319 (GRCm39)	D102G	probably benign	Het
Muc19	A	G	15: 91,776,374 (GRCm39)		noncoding transcript	Het
Nr1h4	T	A	10: 89,334,117 (GRCm39)	Y91F	probably benign	Het
Nr5a2	A	T	1: 136,876,540 (GRCm39)	M1K	probably null	Het
Oprd1	T	C	4: 131,841,104 (GRCm39)	T285A	probably benign	Het
Optc	T	C	1: 133,829,822 (GRCm39)	N196S	probably benign	Het
Or51f5	T	A	7: 102,424,513 (GRCm39)	S261T	probably damaging	Het
Or5g29	A	C	2: 85,421,779 (GRCm39)	K298N	possibly damaging	Het
Or7g21	A	T	9: 19,032,656 (GRCm39)	Y132F	probably damaging	Het
Pdzd8	A	G	19: 59,333,389 (GRCm39)	F211L	probably damaging	Het
Pot1b	T	A	17: 56,006,995 (GRCm39)	T41S	probably benign	Het
Prss56	T	C	1: 87,111,880 (GRCm39)	L37S	probably damaging	Het
Ptk2b	T	C	14: 66,393,864 (GRCm39)	T870A	probably damaging	Het
Rabep2	C	A	7: 126,033,465 (GRCm39)		probably benign	Het
Rbm48	A	C	5: 3,645,444 (GRCm39)	V80G	probably damaging	Het
Rhou	G	T	8: 124,380,848 (GRCm39)	C55F	possibly damaging	Het
Rnaseh2c	A	G	19: 5,652,070 (GRCm39)	D45G	probably benign	Het
Rusc1	A	G	3: 88,996,389 (GRCm39)	S109P	probably damaging	Het
Ryr3	T	C	2: 112,588,012 (GRCm39)	D2643G	possibly damaging	Het
Septin4	T	A	11: 87,458,358 (GRCm39)	M244K	probably benign	Het
Sik2	T	C	9: 50,810,703 (GRCm39)	E471G	probably benign	Het
Sipa1	A	G	19: 5,709,406 (GRCm39)	S310P	probably damaging	Het
Sp140l1	C	T	1: 85,066,521 (GRCm39)		probably benign	Het
Spen	T	C	4: 141,203,587 (GRCm39)	E1680G	unknown	Het
Steap3	C	T	1: 120,171,497 (GRCm39)		probably null	Het
Tmeff2	T	A	1: 51,110,700 (GRCm39)	C171*	probably null	Het
Tmem138	A	T	19: 10,552,634 (GRCm39)	M33K	probably benign	Het
Trappc11	C	A	8: 47,963,998 (GRCm39)	V601L	possibly damaging	Het
Ttll4	C	A	1: 74,718,445 (GRCm39)	H99N	probably damaging	Het
Uchl4	A	T	9: 64,143,022 (GRCm39)	K168*	probably null	Het
Wdr17	C	T	8: 55,106,913 (GRCm39)		probably null	Het
Xpo1	A	G	11: 23,245,977 (GRCm39)	D1029G	probably damaging	Het
Zfp719	G	T	7: 43,240,549 (GRCm39)	K712N	probably damaging	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
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
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'- TCTGCAAGTCATCGCCAAC -3'
(R):5'- TGCCCAAGGTCTGTGATGAG -3'

Sequencing Primer
(F):5'- GCATCCCCGCTGACATC -3'
(R):5'- TGAGACCTGCGGGCAATG -3'

Posted On

2016-07-06