Mutagenetix > Incidental Mutation

Incidental Mutation 'R6927:Pcnx1'

541175

Institutional Source

Beutler Lab

Gene Symbol

Pcnx1

Ensembl Gene

ENSMUSG00000021140

Gene Name

pecanex 1

Synonyms

3526401J03Rik, 2900024E21Rik, Pcnx

MMRRC Submission

045044-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6927 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81906797-82047698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81964586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 251 (V251A)

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: V251A

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000021567
Gene: ENSMUSG00000021140
AA Change: V251A

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: V251A

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000222005
AA Change: V251A

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.0%
20x: 96.1%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,635,317 (GRCm39)	W229R	probably damaging	Het
Adck2	T	C	6: 39,560,998 (GRCm39)		probably null	Het
Ahi1	A	T	10: 20,930,968 (GRCm39)	N936I	probably damaging	Het
Ass1	T	C	2: 31,404,813 (GRCm39)	S365P	probably damaging	Het
Atp9b	T	C	18: 80,935,072 (GRCm39)	K208E	possibly damaging	Het
Bag6	G	A	17: 35,364,898 (GRCm39)		probably null	Het
Bptf	A	T	11: 106,945,421 (GRCm39)	V2491E	probably damaging	Het
Cd300ld2	T	A	11: 114,904,619 (GRCm39)	R83W	probably damaging	Het
Chrnd	T	C	1: 87,126,434 (GRCm39)	F396L	probably damaging	Het
Cyp3a13	G	A	5: 137,893,546 (GRCm39)	P439S	probably damaging	Het
Dnhd1	C	A	7: 105,364,770 (GRCm39)	H4279N	probably damaging	Het
Fam118a	T	C	15: 84,929,038 (GRCm39)		probably null	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fasn	T	A	11: 120,699,115 (GRCm39)	D2386V	probably benign	Het
Fat1	G	A	8: 45,477,532 (GRCm39)	V2170I	probably benign	Het
Fdps	T	C	3: 89,000,958 (GRCm39)	R374G	probably benign	Het
Fhl5	T	C	4: 25,213,681 (GRCm39)	D85G	probably benign	Het
Flvcr1	T	C	1: 190,757,861 (GRCm39)	M144V	possibly damaging	Het
Gask1b	T	C	3: 79,848,769 (GRCm39)	I505T	probably damaging	Het
Gpr31b	A	G	17: 13,270,765 (GRCm39)	S135P	probably damaging	Het
Hey2	A	T	10: 30,710,413 (GRCm39)	D113E	probably benign	Het
Hoxc5	T	A	15: 102,923,807 (GRCm39)	I201N	probably damaging	Het
Ighv1-50	A	T	12: 115,083,794 (GRCm39)	W3R	probably damaging	Het
Impa1	A	G	3: 10,380,348 (GRCm39)	I208T	probably benign	Het
Iqcj	T	C	3: 67,954,624 (GRCm39)	L43P	possibly damaging	Het
Itga10	T	C	3: 96,564,030 (GRCm39)	F895L	probably damaging	Het
Kdm4b	T	C	17: 56,706,435 (GRCm39)	C850R	probably damaging	Het
Krt25	A	T	11: 99,208,205 (GRCm39)	I341N	probably damaging	Het
L3mbtl3	T	A	10: 26,168,567 (GRCm39)	R621*	probably null	Het
Lipm	T	C	19: 34,078,563 (GRCm39)		probably benign	Het
Macrod2	A	T	2: 142,098,441 (GRCm39)	D286V	probably damaging	Het
Mad2l2	T	A	4: 148,225,411 (GRCm39)	V27E	possibly damaging	Het
Map4k4	T	A	1: 40,050,842 (GRCm39)	H768Q	probably benign	Het
Mgat4d	A	G	8: 84,081,496 (GRCm39)	N83S	probably benign	Het
Nucb1	C	T	7: 45,148,282 (GRCm39)	R141H	possibly damaging	Het
Or2t46	A	G	11: 58,472,491 (GRCm39)	K274E	possibly damaging	Het
Pcdhga2	A	C	18: 37,803,719 (GRCm39)	D521A	probably damaging	Het
Pdf	A	T	8: 107,774,833 (GRCm39)	M133K	probably damaging	Het
Piezo2	A	G	18: 63,166,057 (GRCm39)	F2058S	probably damaging	Het
Plekhb2	T	A	1: 34,915,982 (GRCm39)		probably null	Het
Ppp2r3d	G	C	9: 101,052,547 (GRCm39)	H221D	probably damaging	Het
Prl2c5	A	T	13: 13,357,503 (GRCm39)		probably null	Het
Puf60	T	A	15: 75,947,663 (GRCm39)	M49L	probably benign	Het
Rdh16f1	T	C	10: 127,624,561 (GRCm39)	V133A	probably benign	Het
Robo2	T	A	16: 73,778,946 (GRCm39)	D389V	probably damaging	Het
Slc22a23	G	T	13: 34,528,362 (GRCm39)	A140D	probably benign	Het
Slc25a42	A	G	8: 70,641,573 (GRCm39)	L136P	probably damaging	Het
Slc36a3	T	A	11: 55,020,519 (GRCm39)	M284L	probably damaging	Het
Tas2r115	T	A	6: 132,714,895 (GRCm39)	I19F	probably damaging	Het
Tmc2	A	G	2: 130,103,300 (GRCm39)	H812R	probably benign	Het
Vmn2r26	A	G	6: 124,016,057 (GRCm39)	S174G	possibly damaging	Het
Vstm4	T	A	14: 32,585,959 (GRCm39)		probably null	Het
Vwc2	C	A	11: 11,104,250 (GRCm39)	P261T	probably damaging	Het
Zfhx3	C	G	8: 109,683,453 (GRCm39)	H3631D	unknown	Het
Zfp335	A	G	2: 164,735,640 (GRCm39)	C1105R	probably damaging	Het
Zfp488	A	G	14: 33,692,755 (GRCm39)	L136P	probably benign	Het
Zzef1	G	A	11: 72,803,983 (GRCm39)	R2575H	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
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
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'- CAGTGCAGAAGCTGACATGTATC -3'
(R):5'- CCTGAGTGAGGCTTAGATGAGTC -3'

Sequencing Primer
(F):5'- CTGACATGTATCTGTATTTGGCACAG -3'
(R):5'- GTCTAACTCAGTAACAGGGTCTAAC -3'

Posted On

2018-11-28