Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00164:Pcnx1'

1064

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcnx1

Ensembl Gene

ENSMUSG00000021140

Gene Name

pecanex 1

Synonyms

3526401J03Rik, 2900024E21Rik, Pcnx

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00164

Quality Score

Status

Chromosome

Chromosomal Location

81906797-82047698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81941875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 91 (V91A)

Ref Sequence

ENSEMBL: ENSMUSP00000152302 (fasta)

Gene Model

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

AlphaFold

Q9QYC1

Predicted Effect

probably benign
Transcript: ENSMUST00000021567
AA Change: V91A

PolyPhen 2 Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021567
Gene: ENSMUSG00000021140
AA Change: V91A

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

possibly damaging
Transcript: ENSMUST00000221721
AA Change: V91A

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222005
AA Change: V91A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,471,477 (GRCm39)		probably benign	Het
Abcg4	A	G	9: 44,186,439 (GRCm39)		probably benign	Het
Actr2	A	G	11: 20,030,015 (GRCm39)		probably benign	Het
Adgrb3	A	G	1: 25,267,581 (GRCm39)	L843P	probably benign	Het
Cdk19	G	A	10: 40,312,161 (GRCm39)	D137N	probably benign	Het
Cuedc2	T	A	19: 46,320,359 (GRCm39)	I71F	probably damaging	Het
Dag1	A	G	9: 108,086,487 (GRCm39)	V218A	probably damaging	Het
Dlg5	A	C	14: 24,208,532 (GRCm39)	S868R	possibly damaging	Het
Ecsit	C	T	9: 21,984,310 (GRCm39)	G340D	probably benign	Het
Fkbp8	A	G	8: 70,987,211 (GRCm39)	M358V	probably damaging	Het
Gckr	G	A	5: 31,456,920 (GRCm39)	V79M	probably damaging	Het
Gpd1	C	A	15: 99,618,532 (GRCm39)	D172E	probably benign	Het
Josd2	T	C	7: 44,120,740 (GRCm39)		probably benign	Het
Kcna2	T	C	3: 107,011,946 (GRCm39)	S176P	probably damaging	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Notch1	G	A	2: 26,350,058 (GRCm39)	R2361W	probably damaging	Het
Or5w1	T	C	2: 87,486,582 (GRCm39)	M228V	probably benign	Het
Palb2	A	C	7: 121,720,271 (GRCm39)		probably benign	Het
Pan2	C	T	10: 128,148,795 (GRCm39)	Q452*	probably null	Het
Rgs22	T	A	15: 36,100,077 (GRCm39)	I213F	possibly damaging	Het
Serpina3b	G	T	12: 104,105,046 (GRCm39)	W407C	probably benign	Het
Sf3b2	T	C	19: 5,329,615 (GRCm39)	D687G	probably benign	Het
Slc8a3	T	C	12: 81,361,343 (GRCm39)	E492G	probably benign	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Surf1	C	T	2: 26,803,584 (GRCm39)		probably null	Het
Tmem190	T	C	7: 4,785,998 (GRCm39)		probably benign	Het
Zfhx2	A	G	14: 55,302,483 (GRCm39)	S1834P	possibly damaging	Het
Zfp607a	G	A	7: 27,577,214 (GRCm39)	E95K	possibly damaging	Het

Other mutations in Pcnx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Pcnx1	APN	12	82,042,827 (GRCm39)	missense	probably damaging	1.00
IGL01066:Pcnx1	APN	12	82,038,795 (GRCm39)	missense	possibly damaging	0.87
IGL01069:Pcnx1	APN	12	81,964,918 (GRCm39)	missense	probably benign	0.27
IGL01082:Pcnx1	APN	12	82,037,372 (GRCm39)	missense	possibly damaging	0.62
IGL01087:Pcnx1	APN	12	82,042,113 (GRCm39)	splice site	probably benign
IGL01145:Pcnx1	APN	12	82,038,809 (GRCm39)	missense	probably damaging	0.99
IGL01412:Pcnx1	APN	12	81,953,239 (GRCm39)	missense	probably damaging	1.00
IGL01477:Pcnx1	APN	12	82,020,015 (GRCm39)	missense	probably damaging	0.98
IGL01639:Pcnx1	APN	12	81,997,094 (GRCm39)	critical splice donor site	probably null
IGL01815:Pcnx1	APN	12	82,037,325 (GRCm39)	missense	probably damaging	1.00
IGL01870:Pcnx1	APN	12	82,022,667 (GRCm39)	missense	probably benign	0.01
IGL01902:Pcnx1	APN	12	82,025,868 (GRCm39)	missense	probably damaging	1.00
IGL01935:Pcnx1	APN	12	81,964,590 (GRCm39)	missense	probably benign	0.00
IGL02141:Pcnx1	APN	12	81,907,156 (GRCm39)	missense	possibly damaging	0.86
IGL02179:Pcnx1	APN	12	81,980,493 (GRCm39)	intron	probably benign
IGL02197:Pcnx1	APN	12	82,039,925 (GRCm39)	missense	possibly damaging	0.85
IGL02197:Pcnx1	APN	12	81,965,878 (GRCm39)	missense	probably benign	0.01
IGL02238:Pcnx1	APN	12	81,964,688 (GRCm39)	missense	probably damaging	1.00
IGL02430:Pcnx1	APN	12	81,966,096 (GRCm39)	missense	possibly damaging	0.89
IGL02590:Pcnx1	APN	12	82,041,752 (GRCm39)	missense	probably damaging	1.00
IGL02992:Pcnx1	APN	12	82,010,894 (GRCm39)	missense	probably damaging	1.00
IGL03304:Pcnx1	APN	12	82,028,803 (GRCm39)	missense	probably damaging	1.00
PIT4515001:Pcnx1	UTSW	12	82,038,561 (GRCm39)	missense
R0086:Pcnx1	UTSW	12	82,038,832 (GRCm39)	unclassified	probably benign
R0114:Pcnx1	UTSW	12	82,042,869 (GRCm39)	missense	possibly damaging	0.95
R0240:Pcnx1	UTSW	12	81,993,792 (GRCm39)	missense	possibly damaging	0.67
R0240:Pcnx1	UTSW	12	81,993,792 (GRCm39)	missense	possibly damaging	0.67
R0376:Pcnx1	UTSW	12	82,021,353 (GRCm39)	splice site	probably benign
R0377:Pcnx1	UTSW	12	82,021,353 (GRCm39)	splice site	probably benign
R0416:Pcnx1	UTSW	12	82,021,240 (GRCm39)	missense	probably benign	0.09
R0514:Pcnx1	UTSW	12	82,041,884 (GRCm39)	missense	probably benign	0.21
R0563:Pcnx1	UTSW	12	81,964,718 (GRCm39)	missense	probably damaging	1.00
R0569:Pcnx1	UTSW	12	82,038,804 (GRCm39)	missense	probably benign	0.08
R0626:Pcnx1	UTSW	12	82,030,450 (GRCm39)	missense	possibly damaging	0.82
R0972:Pcnx1	UTSW	12	81,960,186 (GRCm39)	missense	probably damaging	1.00
R1205:Pcnx1	UTSW	12	82,003,017 (GRCm39)	missense	probably damaging	1.00
R1455:Pcnx1	UTSW	12	82,020,008 (GRCm39)	missense	probably damaging	1.00
R1514:Pcnx1	UTSW	12	81,965,572 (GRCm39)	missense	probably damaging	1.00
R1731:Pcnx1	UTSW	12	82,037,478 (GRCm39)	missense	probably damaging	1.00
R1758:Pcnx1	UTSW	12	82,030,258 (GRCm39)	missense	probably benign	0.27
R1774:Pcnx1	UTSW	12	82,022,094 (GRCm39)	missense	probably damaging	1.00
R1817:Pcnx1	UTSW	12	81,965,416 (GRCm39)	missense	probably benign
R1843:Pcnx1	UTSW	12	82,027,709 (GRCm39)	missense	probably damaging	1.00
R1862:Pcnx1	UTSW	12	81,965,506 (GRCm39)	missense	probably damaging	1.00
R2042:Pcnx1	UTSW	12	81,965,067 (GRCm39)	missense	probably damaging	1.00
R2054:Pcnx1	UTSW	12	81,980,448 (GRCm39)	missense	probably benign	0.02
R2243:Pcnx1	UTSW	12	81,965,479 (GRCm39)	missense	probably damaging	1.00
R2272:Pcnx1	UTSW	12	82,042,088 (GRCm39)	missense	probably benign	0.26
R2360:Pcnx1	UTSW	12	81,996,960 (GRCm39)	missense	probably damaging	0.99
R2926:Pcnx1	UTSW	12	82,041,769 (GRCm39)	missense	probably damaging	1.00
R3607:Pcnx1	UTSW	12	81,975,066 (GRCm39)	missense	probably damaging	1.00
R3781:Pcnx1	UTSW	12	82,042,892 (GRCm39)	missense	probably benign	0.00
R3782:Pcnx1	UTSW	12	82,042,892 (GRCm39)	missense	probably benign	0.00
R3806:Pcnx1	UTSW	12	81,996,911 (GRCm39)	missense	possibly damaging	0.84
R3926:Pcnx1	UTSW	12	82,005,505 (GRCm39)	missense	probably damaging	1.00
R4019:Pcnx1	UTSW	12	81,965,018 (GRCm39)	missense	probably damaging	1.00
R4020:Pcnx1	UTSW	12	81,965,018 (GRCm39)	missense	probably damaging	1.00
R4683:Pcnx1	UTSW	12	82,033,446 (GRCm39)	missense	probably benign	0.01
R4703:Pcnx1	UTSW	12	81,941,938 (GRCm39)	missense	probably benign	0.01
R4732:Pcnx1	UTSW	12	82,042,525 (GRCm39)	missense	probably benign	0.01
R4733:Pcnx1	UTSW	12	82,042,525 (GRCm39)	missense	probably benign	0.01
R4755:Pcnx1	UTSW	12	81,997,068 (GRCm39)	missense	probably damaging	1.00
R4792:Pcnx1	UTSW	12	81,965,925 (GRCm39)	missense	probably damaging	1.00
R4897:Pcnx1	UTSW	12	81,964,939 (GRCm39)	missense	probably damaging	1.00
R4915:Pcnx1	UTSW	12	82,021,269 (GRCm39)	missense	probably benign	0.10
R4934:Pcnx1	UTSW	12	82,038,599 (GRCm39)	missense	possibly damaging	0.76
R4940:Pcnx1	UTSW	12	81,964,567 (GRCm39)	missense	possibly damaging	0.60
R5079:Pcnx1	UTSW	12	82,025,863 (GRCm39)	nonsense	probably null
R5087:Pcnx1	UTSW	12	82,041,713 (GRCm39)	missense	probably damaging	1.00
R5284:Pcnx1	UTSW	12	81,965,803 (GRCm39)	missense	probably benign	0.02
R5287:Pcnx1	UTSW	12	82,028,825 (GRCm39)	missense	probably damaging	1.00
R5436:Pcnx1	UTSW	12	81,907,180 (GRCm39)	missense	probably damaging	1.00
R5505:Pcnx1	UTSW	12	81,996,927 (GRCm39)	missense	probably damaging	1.00
R5538:Pcnx1	UTSW	12	81,907,183 (GRCm39)	missense	probably damaging	1.00
R5632:Pcnx1	UTSW	12	81,964,504 (GRCm39)	missense	probably damaging	1.00
R5642:Pcnx1	UTSW	12	81,941,803 (GRCm39)	missense	possibly damaging	0.45
R5841:Pcnx1	UTSW	12	81,965,429 (GRCm39)	missense	possibly damaging	0.62
R6275:Pcnx1	UTSW	12	81,965,381 (GRCm39)	missense	probably benign	0.34
R6508:Pcnx1	UTSW	12	81,959,479 (GRCm39)	missense	probably damaging	0.98
R6532:Pcnx1	UTSW	12	82,027,738 (GRCm39)	missense	probably damaging	1.00
R6634:Pcnx1	UTSW	12	81,964,656 (GRCm39)	nonsense	probably null
R6753:Pcnx1	UTSW	12	82,011,254 (GRCm39)	missense	probably damaging	1.00
R6776:Pcnx1	UTSW	12	82,009,496 (GRCm39)	missense	possibly damaging	0.81
R6778:Pcnx1	UTSW	12	81,965,645 (GRCm39)	missense	probably damaging	1.00
R6890:Pcnx1	UTSW	12	82,018,150 (GRCm39)	missense	probably benign	0.09
R6894:Pcnx1	UTSW	12	82,034,747 (GRCm39)	missense	probably damaging	1.00
R6927:Pcnx1	UTSW	12	81,964,586 (GRCm39)	missense	probably benign	0.37
R7173:Pcnx1	UTSW	12	81,999,777 (GRCm39)	splice site	probably null
R7196:Pcnx1	UTSW	12	82,042,312 (GRCm39)	missense	possibly damaging	0.94
R7316:Pcnx1	UTSW	12	82,042,323 (GRCm39)	missense	probably benign	0.16
R7559:Pcnx1	UTSW	12	82,039,896 (GRCm39)	missense	unknown
R7635:Pcnx1	UTSW	12	81,965,899 (GRCm39)	missense
R7669:Pcnx1	UTSW	12	82,037,325 (GRCm39)	missense	probably damaging	1.00
R8021:Pcnx1	UTSW	12	81,965,593 (GRCm39)	nonsense	probably null
R8049:Pcnx1	UTSW	12	81,965,593 (GRCm39)	nonsense	probably null
R8078:Pcnx1	UTSW	12	82,022,054 (GRCm39)	missense
R8093:Pcnx1	UTSW	12	81,965,593 (GRCm39)	nonsense	probably null
R8104:Pcnx1	UTSW	12	82,030,385 (GRCm39)	nonsense	probably null
R8108:Pcnx1	UTSW	12	81,965,593 (GRCm39)	nonsense	probably null
R8109:Pcnx1	UTSW	12	81,965,593 (GRCm39)	nonsense	probably null
R8131:Pcnx1	UTSW	12	81,965,292 (GRCm39)	missense	possibly damaging	0.80
R8136:Pcnx1	UTSW	12	81,964,780 (GRCm39)	missense	probably benign
R8153:Pcnx1	UTSW	12	81,965,593 (GRCm39)	nonsense	probably null
R8156:Pcnx1	UTSW	12	81,965,593 (GRCm39)	nonsense	probably null
R8202:Pcnx1	UTSW	12	81,941,821 (GRCm39)	missense	probably benign	0.00
R8362:Pcnx1	UTSW	12	82,013,830 (GRCm39)	missense
R8515:Pcnx1	UTSW	12	82,009,490 (GRCm39)	missense	possibly damaging	0.83
R8803:Pcnx1	UTSW	12	82,039,925 (GRCm39)	missense	possibly damaging	0.85
R8820:Pcnx1	UTSW	12	82,020,022 (GRCm39)	missense
R8828:Pcnx1	UTSW	12	82,042,597 (GRCm39)	missense	probably damaging	1.00
R8946:Pcnx1	UTSW	12	82,018,158 (GRCm39)	missense	probably damaging	0.96
R8964:Pcnx1	UTSW	12	82,039,812 (GRCm39)	missense
R9152:Pcnx1	UTSW	12	82,022,589 (GRCm39)	missense
R9256:Pcnx1	UTSW	12	82,020,047 (GRCm39)	missense
R9287:Pcnx1	UTSW	12	82,042,323 (GRCm39)	missense	probably benign	0.07
R9289:Pcnx1	UTSW	12	82,028,853 (GRCm39)	missense
R9414:Pcnx1	UTSW	12	81,964,978 (GRCm39)	missense	probably damaging	1.00
R9445:Pcnx1	UTSW	12	81,964,981 (GRCm39)	missense	probably damaging	0.98
R9595:Pcnx1	UTSW	12	81,965,688 (GRCm39)	missense
R9600:Pcnx1	UTSW	12	82,030,435 (GRCm39)	missense
R9620:Pcnx1	UTSW	12	81,996,960 (GRCm39)	missense	probably damaging	0.99
RF024:Pcnx1	UTSW	12	81,964,501 (GRCm39)	missense	probably damaging	0.98
Z1177:Pcnx1	UTSW	12	81,965,451 (GRCm39)	missense
Z1177:Pcnx1	UTSW	12	81,964,976 (GRCm39)	missense	probably damaging	0.98

Posted On

2011-07-12