Mutagenetix > Incidental Mutation

Incidental Mutation 'R1514:Pcnx'

168641

Institutional Source

Beutler Lab

Gene Symbol

Pcnx

Ensembl Gene

ENSMUSG00000021140

Gene Name

pecanex homolog

Synonyms

3526401J03Rik, 2900024E21Rik

MMRRC Submission

039561-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1514 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81860023-82000924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 81918798 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 580 (H580Y)

Ref Sequence

ENSEMBL: ENSMUSP00000152302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021567] [ENSMUST00000221721] [ENSMUST00000222005]

AlphaFold

Q9QYC1

Predicted Effect

probably damaging
Transcript: ENSMUST00000021567
AA Change: H580Y

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021567
Gene: ENSMUSG00000021140
AA Change: H580Y

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	52	74	N/A	INTRINSIC
low complexity region	369	390	N/A	INTRINSIC
low complexity region	407	422	N/A	INTRINSIC
low complexity region	509	525	N/A	INTRINSIC
low complexity region	616	638	N/A	INTRINSIC
low complexity region	672	692	N/A	INTRINSIC
low complexity region	764	783	N/A	INTRINSIC
low complexity region	817	835	N/A	INTRINSIC
low complexity region	842	853	N/A	INTRINSIC
low complexity region	911	922	N/A	INTRINSIC
transmembrane domain	1006	1028	N/A	INTRINSIC
transmembrane domain	1035	1052	N/A	INTRINSIC
transmembrane domain	1070	1092	N/A	INTRINSIC
transmembrane domain	1113	1135	N/A	INTRINSIC
transmembrane domain	1163	1185	N/A	INTRINSIC
transmembrane domain	1197	1216	N/A	INTRINSIC
transmembrane domain	1269	1291	N/A	INTRINSIC
transmembrane domain	1298	1315	N/A	INTRINSIC
Pfam:Pecanex_C	1785	2011	1.6e-118	PFAM
low complexity region	2125	2140	N/A	INTRINSIC
low complexity region	2195	2202	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000221675
AA Change: H52Y

Predicted Effect

probably damaging
Transcript: ENSMUST00000221721
AA Change: H580Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222005
AA Change: H580Y

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

Meta Mutation Damage Score

0.1746

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an evolutionarily conserved transmembrane protein similar to the pecanex protein in Drosophila. The fly protein is a component of the Notch signaling pathway, which functions in several developmental processes. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,612,867	L147Q	probably damaging	Het
Abcb1a	A	G	5: 8,674,791	T75A	possibly damaging	Het
Acvr1	A	T	2: 58,447,585	L495*	probably null	Het
Add1	T	C	5: 34,610,617	I240T	probably benign	Het
Adgra2	C	A	8: 27,121,278	S870*	probably null	Het
Amer3	G	A	1: 34,579,327		probably benign	Het
Baz2b	A	T	2: 59,962,326	V486D	probably benign	Het
Bcorl1	T	A	X: 48,405,944	D1697E	probably damaging	Het
Cenpf	T	C	1: 189,679,141	D282G	possibly damaging	Het
Cep112	A	G	11: 108,472,054	D200G	probably damaging	Het
Clec4a4	C	T	6: 122,990,442	P26S	probably benign	Het
Crygf	A	C	1: 65,928,038	R102S	possibly damaging	Het
Cyp2b19	A	T	7: 26,767,160	E404D	probably benign	Het
Dcdc2a	A	G	13: 25,061,254	I105V	probably benign	Het
Dus4l	T	C	12: 31,640,939	M238V	probably damaging	Het
Eprs	G	A	1: 185,381,834	M326I	probably damaging	Het
Evpl	T	C	11: 116,223,835	T1010A	probably benign	Het
Fam124b	T	C	1: 80,200,431	T284A	possibly damaging	Het
Fam84a	C	T	12: 14,149,863	V288M	probably damaging	Het
Glb1l2	A	G	9: 26,769,124		probably benign	Het
Gm15922	G	A	7: 3,739,640	T23I	possibly damaging	Het
Gm16223	T	A	5: 42,067,955		probably null	Het
Gm438	T	C	4: 144,777,759	N274S	probably damaging	Het
Gm4952	T	A	19: 12,626,914	M230K	probably damaging	Het
Gm5828	C	A	1: 16,769,359		noncoding transcript	Het
Gm597	T	A	1: 28,778,748	T68S	possibly damaging	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ifna16	T	A	4: 88,676,742	T39S	possibly damaging	Het
Kcnc3	G	A	7: 44,595,603	G439D	probably damaging	Het
Kif1c	T	C	11: 70,705,729	S257P	probably damaging	Het
Kng1	A	G	16: 23,079,760	K456E	probably damaging	Het
Lpxn	T	C	19: 12,824,050	L142P	probably damaging	Het
Med23	A	G	10: 24,892,667		probably benign	Het
Mgea5	A	G	19: 45,776,931	S146P	probably damaging	Het
Mks1	A	T	11: 87,861,111	D369V	probably benign	Het
Myo1d	A	T	11: 80,685,908	Y114N	probably damaging	Het
Npas2	A	G	1: 39,311,854	D126G	possibly damaging	Het
Olfr1314	T	C	2: 112,092,036	I222V	probably benign	Het
Olfr1420	A	G	19: 11,896,614	T198A	probably benign	Het
Olfr148	T	C	9: 39,613,696	I43T	probably damaging	Het
Onecut2	T	C	18: 64,341,580	F401L	possibly damaging	Het
Parp11	T	A	6: 127,474,293	F102Y	possibly damaging	Het
Pde3b	A	G	7: 114,530,766	H852R	probably damaging	Het
Pou2af1	A	G	9: 51,233,208	T141A	probably benign	Het
Rgs22	A	C	15: 36,013,100	V1190G	probably benign	Het
Rnf112	T	C	11: 61,450,410	S450G	probably benign	Het
Rpgrip1l	A	T	8: 91,260,750	I893N	probably damaging	Het
Rps3a1	A	G	3: 86,138,527	V210A	probably benign	Het
Runx2	C	T	17: 44,735,337	A114T	possibly damaging	Het
Sardh	A	G	2: 27,197,690	V723A	possibly damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Secisbp2	A	G	13: 51,682,095	S742G	possibly damaging	Het
Selenow	G	T	7: 15,920,298		probably benign	Het
Slc30a4	A	G	2: 122,689,414	V226A	probably damaging	Het
Sntb2	A	G	8: 106,991,532	N291D	probably damaging	Het
Sorbs2	A	G	8: 45,769,829	T190A	probably damaging	Het
Specc1	T	A	11: 62,156,532	L909H	probably damaging	Het
Sprr1b	T	C	3: 92,437,107	*154W	probably null	Het
Taar4	T	A	10: 23,960,612	M40K	possibly damaging	Het
Ubr2	A	T	17: 47,000,823	L34H	probably damaging	Het
Ubxn6	T	C	17: 56,069,003	K386R	probably benign	Het
Vmn2r112	A	T	17: 22,602,844	T168S	probably benign	Het
Xirp2	A	T	2: 67,514,323	R2303*	probably null	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp13	G	T	17: 23,576,412	T395K	probably damaging	Het
Zfp281	A	G	1: 136,626,697	N471S	probably benign	Het

Other mutations in Pcnx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Pcnx	APN	12	81895101	missense	probably damaging	0.98
IGL00561:Pcnx	APN	12	81996053	missense	probably damaging	1.00
IGL01066:Pcnx	APN	12	81992021	missense	possibly damaging	0.87
IGL01069:Pcnx	APN	12	81918144	missense	probably benign	0.27
IGL01082:Pcnx	APN	12	81990598	missense	possibly damaging	0.62
IGL01087:Pcnx	APN	12	81995339	splice site	probably benign
IGL01145:Pcnx	APN	12	81992035	missense	probably damaging	0.99
IGL01412:Pcnx	APN	12	81906465	missense	probably damaging	1.00
IGL01477:Pcnx	APN	12	81973241	missense	probably damaging	0.98
IGL01639:Pcnx	APN	12	81950320	critical splice donor site	probably null
IGL01815:Pcnx	APN	12	81990551	missense	probably damaging	1.00
IGL01870:Pcnx	APN	12	81975893	missense	probably benign	0.01
IGL01902:Pcnx	APN	12	81979094	missense	probably damaging	1.00
IGL01935:Pcnx	APN	12	81917816	missense	probably benign	0.00
IGL02141:Pcnx	APN	12	81860382	missense	possibly damaging	0.86
IGL02179:Pcnx	APN	12	81933719	intron	probably benign
IGL02197:Pcnx	APN	12	81919104	missense	probably benign	0.01
IGL02197:Pcnx	APN	12	81993151	missense	possibly damaging	0.85
IGL02238:Pcnx	APN	12	81917914	missense	probably damaging	1.00
IGL02430:Pcnx	APN	12	81919322	missense	possibly damaging	0.89
IGL02590:Pcnx	APN	12	81994978	missense	probably damaging	1.00
IGL02992:Pcnx	APN	12	81964120	missense	probably damaging	1.00
IGL03304:Pcnx	APN	12	81982029	missense	probably damaging	1.00
PIT4515001:Pcnx	UTSW	12	81991787	missense
R0086:Pcnx	UTSW	12	81992058	unclassified	probably benign
R0114:Pcnx	UTSW	12	81996095	missense	possibly damaging	0.95
R0240:Pcnx	UTSW	12	81947018	missense	possibly damaging	0.67
R0240:Pcnx	UTSW	12	81947018	missense	possibly damaging	0.67
R0376:Pcnx	UTSW	12	81974579	splice site	probably benign
R0377:Pcnx	UTSW	12	81974579	splice site	probably benign
R0416:Pcnx	UTSW	12	81974466	missense	probably benign	0.09
R0514:Pcnx	UTSW	12	81995110	missense	probably benign	0.21
R0563:Pcnx	UTSW	12	81917944	missense	probably damaging	1.00
R0569:Pcnx	UTSW	12	81992030	missense	probably benign	0.08
R0626:Pcnx	UTSW	12	81983676	missense	possibly damaging	0.82
R0972:Pcnx	UTSW	12	81913412	missense	probably damaging	1.00
R1205:Pcnx	UTSW	12	81956243	missense	probably damaging	1.00
R1455:Pcnx	UTSW	12	81973234	missense	probably damaging	1.00
R1731:Pcnx	UTSW	12	81990704	missense	probably damaging	1.00
R1758:Pcnx	UTSW	12	81983484	missense	probably benign	0.27
R1774:Pcnx	UTSW	12	81975320	missense	probably damaging	1.00
R1817:Pcnx	UTSW	12	81918642	missense	probably benign
R1843:Pcnx	UTSW	12	81980935	missense	probably damaging	1.00
R1862:Pcnx	UTSW	12	81918732	missense	probably damaging	1.00
R2042:Pcnx	UTSW	12	81918293	missense	probably damaging	1.00
R2054:Pcnx	UTSW	12	81933674	missense	probably benign	0.02
R2243:Pcnx	UTSW	12	81918705	missense	probably damaging	1.00
R2272:Pcnx	UTSW	12	81995314	missense	probably benign	0.26
R2360:Pcnx	UTSW	12	81950186	missense	probably damaging	0.99
R2926:Pcnx	UTSW	12	81994995	missense	probably damaging	1.00
R3607:Pcnx	UTSW	12	81928292	missense	probably damaging	1.00
R3781:Pcnx	UTSW	12	81996118	missense	probably benign	0.00
R3782:Pcnx	UTSW	12	81996118	missense	probably benign	0.00
R3806:Pcnx	UTSW	12	81950137	missense	possibly damaging	0.84
R3926:Pcnx	UTSW	12	81958731	missense	probably damaging	1.00
R4019:Pcnx	UTSW	12	81918244	missense	probably damaging	1.00
R4020:Pcnx	UTSW	12	81918244	missense	probably damaging	1.00
R4683:Pcnx	UTSW	12	81986672	missense	probably benign	0.01
R4703:Pcnx	UTSW	12	81895164	missense	probably benign	0.01
R4732:Pcnx	UTSW	12	81995751	missense	probably benign	0.01
R4733:Pcnx	UTSW	12	81995751	missense	probably benign	0.01
R4755:Pcnx	UTSW	12	81950294	missense	probably damaging	1.00
R4792:Pcnx	UTSW	12	81919151	missense	probably damaging	1.00
R4897:Pcnx	UTSW	12	81918165	missense	probably damaging	1.00
R4915:Pcnx	UTSW	12	81974495	missense	probably benign	0.10
R4934:Pcnx	UTSW	12	81991825	missense	possibly damaging	0.76
R4940:Pcnx	UTSW	12	81917793	missense	possibly damaging	0.60
R5079:Pcnx	UTSW	12	81979089	nonsense	probably null
R5087:Pcnx	UTSW	12	81994939	missense	probably damaging	1.00
R5284:Pcnx	UTSW	12	81919029	missense	probably benign	0.02
R5287:Pcnx	UTSW	12	81982051	missense	probably damaging	1.00
R5436:Pcnx	UTSW	12	81860406	missense	probably damaging	1.00
R5505:Pcnx	UTSW	12	81950153	missense	probably damaging	1.00
R5538:Pcnx	UTSW	12	81860409	missense	probably damaging	1.00
R5632:Pcnx	UTSW	12	81917730	missense	probably damaging	1.00
R5642:Pcnx	UTSW	12	81895029	missense	possibly damaging	0.45
R5841:Pcnx	UTSW	12	81918655	missense	possibly damaging	0.62
R6275:Pcnx	UTSW	12	81918607	missense	probably benign	0.34
R6508:Pcnx	UTSW	12	81912705	missense	probably damaging	0.98
R6532:Pcnx	UTSW	12	81980964	missense	probably damaging	1.00
R6634:Pcnx	UTSW	12	81917882	nonsense	probably null
R6753:Pcnx	UTSW	12	81964480	missense	probably damaging	1.00
R6776:Pcnx	UTSW	12	81962722	missense	possibly damaging	0.81
R6778:Pcnx	UTSW	12	81918871	missense	probably damaging	1.00
R6890:Pcnx	UTSW	12	81971376	missense	probably benign	0.09
R6894:Pcnx	UTSW	12	81987973	missense	probably damaging	1.00
R6927:Pcnx	UTSW	12	81917812	missense	probably benign	0.37
R7173:Pcnx	UTSW	12	81953003	splice site	probably null
R7196:Pcnx	UTSW	12	81995538	missense	possibly damaging	0.94
R7316:Pcnx	UTSW	12	81995549	missense	probably benign	0.16
R7559:Pcnx	UTSW	12	81993122	missense	unknown
R7635:Pcnx	UTSW	12	81919125	missense
R7669:Pcnx	UTSW	12	81990551	missense	probably damaging	1.00
R8021:Pcnx	UTSW	12	81918819	nonsense	probably null
R8049:Pcnx	UTSW	12	81918819	nonsense	probably null
R8078:Pcnx	UTSW	12	81975280	missense
R8093:Pcnx	UTSW	12	81918819	nonsense	probably null
R8104:Pcnx	UTSW	12	81983611	nonsense	probably null
R8108:Pcnx	UTSW	12	81918819	nonsense	probably null
R8109:Pcnx	UTSW	12	81918819	nonsense	probably null
R8131:Pcnx	UTSW	12	81918518	missense	possibly damaging	0.80
R8136:Pcnx	UTSW	12	81918006	missense	probably benign
R8153:Pcnx	UTSW	12	81918819	nonsense	probably null
R8156:Pcnx	UTSW	12	81918819	nonsense	probably null
R8202:Pcnx	UTSW	12	81895047	missense	probably benign	0.00
R8362:Pcnx	UTSW	12	81967056	missense
R8515:Pcnx	UTSW	12	81962716	missense	possibly damaging	0.83
R8803:Pcnx	UTSW	12	81993151	missense	possibly damaging	0.85
R8820:Pcnx	UTSW	12	81973248	missense
R8828:Pcnx	UTSW	12	81995823	missense	probably damaging	1.00
R8946:Pcnx	UTSW	12	81971384	missense	probably damaging	0.96
R8964:Pcnx	UTSW	12	81993038	missense
R9152:Pcnx	UTSW	12	81975815	missense
R9256:Pcnx	UTSW	12	81973273	missense
R9287:Pcnx	UTSW	12	81995549	missense	probably benign	0.07
R9289:Pcnx	UTSW	12	81982079	missense
R9414:Pcnx	UTSW	12	81918204	missense	probably damaging	1.00
R9445:Pcnx	UTSW	12	81918207	missense	probably damaging	0.98
R9595:Pcnx	UTSW	12	81918914	missense
R9600:Pcnx	UTSW	12	81983661	missense
R9620:Pcnx	UTSW	12	81950186	missense	probably damaging	0.99
RF024:Pcnx	UTSW	12	81917727	missense	probably damaging	0.98
Z1177:Pcnx	UTSW	12	81918202	missense	probably damaging	0.98
Z1177:Pcnx	UTSW	12	81918677	missense

Predicted Primers

PCR Primer
(F):5'- TCCTAAAGTGGGAGACAAGAGTGCC -3'
(R):5'- AAGAGCTGTCGCTGCTGAACTG -3'

Sequencing Primer
(F):5'- CCCCATGCAAATGAGTTTACTGTG -3'
(R):5'- CTGGTGAGCCGAATGAATACTG -3'

Posted On

2014-04-13