Mutagenetix > Incidental Mutation

Incidental Mutation 'R6776:Pcnx1'

531309

Institutional Source

Beutler Lab

Gene Symbol

Pcnx1

Ensembl Gene

ENSMUSG00000021140

Gene Name

pecanex 1

Synonyms

3526401J03Rik, 2900024E21Rik, Pcnx

MMRRC Submission

044892-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6776 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81906797-82047698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82009496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1181 (A1181V)

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: A1187V

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000021567
Gene: ENSMUSG00000021140
AA Change: A1187V

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: A548V

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221721
AA Change: A1181V

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000222005

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	A	G	8: 10,038,075 (GRCm39)	H224R	probably benign	Het
Anapc10	T	C	8: 80,446,374 (GRCm39)	F68S	probably damaging	Het
Arid2	A	G	15: 96,268,830 (GRCm39)	N981S	probably benign	Het
Bmerb1	T	A	16: 13,804,670 (GRCm39)	S6T	possibly damaging	Het
Cfap73	A	G	5: 120,772,276 (GRCm39)	F9L	probably damaging	Het
Chd3	A	C	11: 69,245,296 (GRCm39)	L1141V	probably damaging	Het
Daam1	C	T	12: 72,036,582 (GRCm39)	L1052F	possibly damaging	Het
Dmxl1	C	T	18: 50,027,041 (GRCm39)	R2050C	probably damaging	Het
Dpp10	G	A	1: 123,295,385 (GRCm39)	Q552*	probably null	Het
Dysf	A	G	6: 84,041,876 (GRCm39)	D160G	possibly damaging	Het
Ecrg4	C	A	1: 43,781,551 (GRCm39)	N144K	probably damaging	Het
Firrm	T	C	1: 163,804,318 (GRCm39)	I338M	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,926 (GRCm39)		probably benign	Het
Ftcd	T	C	10: 76,425,073 (GRCm39)	I518T	probably benign	Het
Gapdh	A	G	6: 125,139,236 (GRCm39)	S248P	probably damaging	Het
Gm5592	C	G	7: 40,939,153 (GRCm39)	P812A	probably damaging	Het
Grik2	G	A	10: 49,232,085 (GRCm39)	L482F	probably damaging	Het
Gzmg	C	T	14: 56,394,288 (GRCm39)	G202D	probably damaging	Het
Hectd4	G	A	5: 121,491,574 (GRCm39)	A3671T	possibly damaging	Het
Hexa	G	T	9: 59,465,355 (GRCm39)	W203C	probably damaging	Het
Igdcc4	A	T	9: 65,042,700 (GRCm39)	T1217S	probably benign	Het
Ipo7	A	G	7: 109,646,272 (GRCm39)	D557G	probably damaging	Het
Irx3	T	A	8: 92,526,463 (GRCm39)	T414S	probably benign	Het
Jakmip1	G	A	5: 37,344,498 (GRCm39)	E1313K	probably damaging	Het
Kbtbd12	T	C	6: 88,595,248 (GRCm39)	D194G	probably damaging	Het
Klk6	T	C	7: 43,476,298 (GRCm39)	L46P	probably damaging	Het
Krt86	T	C	15: 101,374,817 (GRCm39)	I329T	probably benign	Het
Mroh5	A	G	15: 73,661,817 (GRCm39)		probably null	Het
Mtrf1	T	C	14: 79,650,521 (GRCm39)	V323A	probably damaging	Het
Oas3	A	T	5: 120,896,939 (GRCm39)	I894N	probably damaging	Het
Oplah	C	T	15: 76,185,053 (GRCm39)	V887I	possibly damaging	Het
Pag1	T	C	3: 9,764,848 (GRCm39)	T102A	probably benign	Het
Pkdrej	G	T	15: 85,701,510 (GRCm39)	Y1475*	probably null	Het
Pla2g5	A	G	4: 138,527,964 (GRCm39)	S101P	probably benign	Het
Plekha4	C	A	7: 45,184,241 (GRCm39)	A76E	probably damaging	Het
Plk2	T	C	13: 110,536,325 (GRCm39)	I592T	probably benign	Het
Ppp2r3c	T	A	12: 55,345,252 (GRCm39)	R79*	probably null	Het
Ppp2r3d	A	T	9: 101,090,061 (GRCm39)	H87Q	probably benign	Het
Prpf40b	C	T	15: 99,212,784 (GRCm39)	R627W	probably damaging	Het
Prrt4	G	T	6: 29,176,551 (GRCm39)	T258K	possibly damaging	Het
Rhpn2	T	A	7: 35,083,194 (GRCm39)		probably null	Het
Slc11a1	T	A	1: 74,423,244 (GRCm39)	I365N	probably damaging	Het
Slc7a7	C	T	14: 54,612,108 (GRCm39)	G265D	possibly damaging	Het
Thsd7a	T	A	6: 12,555,636 (GRCm39)	T83S	possibly damaging	Het
Tln2	A	G	9: 67,170,187 (GRCm39)	S1989P	probably damaging	Het
Tnfaip3	T	G	10: 18,881,324 (GRCm39)	T321P	probably benign	Het
Tnrc6b	C	T	15: 80,808,320 (GRCm39)	P1623L	possibly damaging	Het
Trpa1	T	C	1: 14,982,601 (GRCm39)	N85S	probably benign	Het
Trrap	C	T	5: 144,788,066 (GRCm39)	R3544*	probably null	Het
Ttf2	A	T	3: 100,859,869 (GRCm39)	V695E	probably benign	Het
Ttll4	A	G	1: 74,720,512 (GRCm39)	E509G	probably damaging	Het
Vdr	T	C	15: 97,767,709 (GRCm39)	I94V	probably damaging	Het
Wdfy3	G	T	5: 102,031,911 (GRCm39)	Q2304K	possibly damaging	Het
Zfp663	T	C	2: 165,200,935 (GRCm39)	Y33C	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
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
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'- CTTGTGGAAAAGATGCAGTGC -3'
(R):5'- TATCTTCAACTGTGCCCTGG -3'

Sequencing Primer
(F):5'- TCACGTGACTGGATAAGTGCC -3'
(R):5'- TCAACTGTGCCCTGGGACTTG -3'

Posted On

2018-08-29