Mutagenetix > Incidental Mutation

Incidental Mutation 'R2054:Pcnx1'

226539

Institutional Source

Beutler Lab

Gene Symbol

Pcnx1

Ensembl Gene

ENSMUSG00000021140

Gene Name

pecanex 1

Synonyms

3526401J03Rik, 2900024E21Rik, Pcnx

MMRRC Submission

040059-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81906797-82047698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81980448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 865 (H865R)

Ref Sequence

ENSEMBL: ENSMUSP00000152104 (fasta)

Gene Model

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

AlphaFold

Q9QYC1

Predicted Effect

probably benign
Transcript: ENSMUST00000021567
AA Change: H866R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000021567
Gene: ENSMUSG00000021140
AA Change: H866R

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

probably benign
Transcript: ENSMUST00000221675

Predicted Effect

probably benign
Transcript: ENSMUST00000221721
AA Change: H865R

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000222005

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (67/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,562 (GRCm39)	C94S	possibly damaging	Het
A930011G23Rik	T	C	5: 99,375,914 (GRCm39)	Y432C	probably benign	Het
Abtb2	A	G	2: 103,535,462 (GRCm39)	D543G	probably benign	Het
Adam9	A	T	8: 25,481,310 (GRCm39)	V318E	probably damaging	Het
Aim2	T	C	1: 173,291,548 (GRCm39)	F318L	probably damaging	Het
Apob	A	T	12: 8,063,134 (GRCm39)	D3872V	probably damaging	Het
Atat1	T	A	17: 36,212,261 (GRCm39)	R323W	probably null	Het
Atp2b4	T	C	1: 133,642,907 (GRCm39)	D1066G	probably benign	Het
Bltp1	A	G	3: 37,002,002 (GRCm39)	T1316A	probably benign	Het
Caskin2	T	C	11: 115,697,127 (GRCm39)		probably benign	Het
Cblif	G	A	19: 11,736,370 (GRCm39)	V314I	probably benign	Het
Ccdc54	T	A	16: 50,410,987 (GRCm39)	N93I	probably damaging	Het
Ccnd1	A	C	7: 144,491,128 (GRCm39)	D159E	possibly damaging	Het
Cnot1	A	C	8: 96,466,469 (GRCm39)	S1589R	possibly damaging	Het
Copa	T	A	1: 171,946,524 (GRCm39)	Y980*	probably null	Het
Defb19	A	G	2: 152,418,090 (GRCm39)	I82T	possibly damaging	Het
Elapor2	C	A	5: 9,513,030 (GRCm39)	T1008K	possibly damaging	Het
Fiz1	G	A	7: 5,011,235 (GRCm39)	R428C	probably damaging	Het
Fnip2	A	T	3: 79,479,772 (GRCm39)		probably benign	Het
Gabrb3	G	A	7: 57,474,241 (GRCm39)	G408S	probably benign	Het
Hao1	C	T	2: 134,340,178 (GRCm39)		silent	Het
Hecw1	T	A	13: 14,471,998 (GRCm39)	M557L	probably damaging	Het
Itch	A	T	2: 155,052,496 (GRCm39)	I699F	probably damaging	Het
Kmt2a	T	C	9: 44,734,671 (GRCm39)		probably benign	Het
Leng8	T	G	7: 4,147,289 (GRCm39)	Y562*	probably null	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrp1b	A	T	2: 40,587,494 (GRCm39)	N151K	unknown	Het
Lrrc71	T	C	3: 87,649,980 (GRCm39)	E316G	probably damaging	Het
Mgat5	A	G	1: 127,325,344 (GRCm39)	N404D	probably damaging	Het
Mrps26	C	A	2: 130,406,087 (GRCm39)	T100K	probably benign	Het
Mtor	A	G	4: 148,547,309 (GRCm39)	T431A	probably benign	Het
Mtor	T	A	4: 148,550,482 (GRCm39)	C713S	probably benign	Het
Mug2	A	G	6: 122,054,451 (GRCm39)	K1077E	probably damaging	Het
Nbas	A	G	12: 13,524,207 (GRCm39)	T1688A	probably benign	Het
Nek2	T	C	1: 191,553,764 (GRCm39)	S3P	possibly damaging	Het
Nell2	T	C	15: 95,332,990 (GRCm39)	T190A	probably benign	Het
Npr2	A	T	4: 43,646,560 (GRCm39)	N636I	probably damaging	Het
Orc3	A	T	4: 34,584,846 (GRCm39)	I453K	probably damaging	Het
Pex1	T	C	5: 3,653,341 (GRCm39)	V80A	possibly damaging	Het
Phka2	T	A	X: 159,337,323 (GRCm39)	D424E	probably damaging	Het
Pkd1	C	T	17: 24,793,770 (GRCm39)	T1819I	probably benign	Het
Poglut1	T	C	16: 38,355,169 (GRCm39)	D219G	probably damaging	Het
Ppargc1a	T	C	5: 51,631,130 (GRCm39)	I500V	possibly damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Pygm	C	G	19: 6,438,185 (GRCm39)	N163K	probably benign	Het
Qrich1	T	A	9: 108,436,469 (GRCm39)	N722K	possibly damaging	Het
Reep6	T	A	10: 80,166,156 (GRCm39)	C104*	probably null	Het
Rfx8	A	G	1: 39,724,719 (GRCm39)	V214A	possibly damaging	Het
Sis	G	A	3: 72,820,570 (GRCm39)	T1398I	probably benign	Het
Skint5	A	G	4: 113,676,360 (GRCm39)		probably null	Het
Slc7a14	A	G	3: 31,291,511 (GRCm39)		probably benign	Het
Smc2	T	A	4: 52,462,948 (GRCm39)	M646K	probably benign	Het
Snx29	A	G	16: 11,449,356 (GRCm39)	N165S	probably damaging	Het
Supt6	T	A	11: 78,115,187 (GRCm39)		probably benign	Het
Tead4	G	T	6: 128,247,925 (GRCm39)	S37R	probably damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tex56	T	A	13: 35,108,574 (GRCm39)	Y19N	probably damaging	Het
Tff2	T	C	17: 31,362,199 (GRCm39)	K40E	probably benign	Het
Traip	C	T	9: 107,840,118 (GRCm39)	T265M	probably benign	Het
Trim47	T	C	11: 115,999,109 (GRCm39)	T256A	probably benign	Het
Trpm1	A	G	7: 63,890,303 (GRCm39)	M853V	possibly damaging	Het
Tti1	G	T	2: 157,849,365 (GRCm39)	Q625K	possibly damaging	Het
Ube2n	A	G	10: 95,377,128 (GRCm39)	N31S	probably damaging	Het
Vmn2r17	T	C	5: 109,600,352 (GRCm39)	M550T	probably damaging	Het
Zfp512	T	A	5: 31,622,793 (GRCm39)	N31K	probably benign	Het
Zfp64	A	G	2: 168,767,728 (GRCm39)	V628A	probably damaging	Het

Other mutations in Pcnx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Pcnx1	APN	12	81,941,875 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- CTGGGCGATTTGAAAGTGTC -3'
(R):5'- CCAATAAACAGTGCCTGATGC -3'

Sequencing Primer
(F):5'- AATCTGTGATCTGTATTGCTTTCAC -3'
(R):5'- GCCTGATGCATAGCTCCAATAG -3'

Posted On

2014-09-17