Mutagenetix > Incidental Mutation

Incidental Mutation 'R8362:Pcnx1'

646014

Institutional Source

Beutler Lab

Gene Symbol

Pcnx1

Ensembl Gene

ENSMUSG00000021140

Gene Name

pecanex 1

Synonyms

3526401J03Rik, 2900024E21Rik, Pcnx

MMRRC Submission

067808-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8362 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81906797-82047698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 82013830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 623 (S623R)

Gene Model

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

AlphaFold

Q9QYC1

Predicted Effect

probably benign
Transcript: ENSMUST00000021567
AA Change: S1262R

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021567
Gene: ENSMUSG00000021140
AA Change: S1262R

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: S1256R

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000222005

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	T	A	19: 8,867,395 (GRCm39)	S65T	probably damaging	Het
Abcb1b	A	T	5: 8,848,758 (GRCm39)	N6I	probably benign	Het
Abr	A	T	11: 76,369,954 (GRCm39)	I145N	probably benign	Het
Alcam	A	T	16: 52,115,387 (GRCm39)	Y244N	probably damaging	Het
Amotl1	G	A	9: 14,556,218 (GRCm39)	A36V	probably benign	Het
Ankrd11	A	T	8: 123,618,797 (GRCm39)	L1685Q	probably damaging	Het
Ascc3	A	C	10: 50,518,692 (GRCm39)	Q332H	possibly damaging	Het
Cdc42bpa	C	T	1: 179,989,690 (GRCm39)	L1720F	probably damaging	Het
Clec4b1	T	C	6: 123,027,602 (GRCm39)	S20P	probably benign	Het
Cpt1a	C	T	19: 3,420,744 (GRCm39)	R401*	probably null	Het
Dnah12	T	A	14: 26,576,788 (GRCm39)	Y3013N	probably damaging	Het
Dop1a	G	A	9: 86,395,941 (GRCm39)	R801H	probably benign	Het
Flywch1	G	T	17: 23,975,682 (GRCm39)	T520N	probably damaging	Het
Fndc1	A	G	17: 8,001,207 (GRCm39)	S190P	unknown	Het
Gabra1	G	T	11: 42,066,831 (GRCm39)	Q28K	probably benign	Het
Gria2	T	C	3: 80,615,197 (GRCm39)	M428V	possibly damaging	Het
H13	T	A	2: 152,528,311 (GRCm39)	I220N	unknown	Het
Hars2	T	A	18: 36,923,228 (GRCm39)	F412L	probably benign	Het
Hecw2	A	T	1: 54,079,650 (GRCm39)	M1K	probably null	Het
Homer1	T	A	13: 93,502,797 (GRCm39)	S192T	unknown	Het
Itga2b	T	A	11: 102,352,189 (GRCm39)	D464V	probably damaging	Het
Ivd	T	A	2: 118,708,422 (GRCm39)	C379S	probably damaging	Het
Khdc3	A	T	9: 73,010,848 (GRCm39)	N233Y	possibly damaging	Het
Lrrc37	A	G	11: 103,506,163 (GRCm39)	V1935A	probably benign	Het
Lrrfip1	T	A	1: 90,981,423 (GRCm39)	L15Q	probably damaging	Het
Megf8	C	A	7: 25,039,943 (GRCm39)	P986Q	probably benign	Het
Morc2b	G	T	17: 33,357,295 (GRCm39)	T159K	possibly damaging	Het
Nudt5	A	G	2: 5,858,322 (GRCm39)		probably null	Het
Or6c211	G	T	10: 129,506,100 (GRCm39)	A96E	possibly damaging	Het
Paqr5	A	T	9: 61,879,945 (GRCm39)	Y116*	probably null	Het
Polr1a	T	C	6: 71,941,651 (GRCm39)	V1053A	probably benign	Het
Ptprt	A	T	2: 161,393,667 (GRCm39)	D1252E	probably damaging	Het
Qser1	A	G	2: 104,620,246 (GRCm39)	S189P	probably damaging	Het
Rasal1	C	T	5: 120,813,485 (GRCm39)	R620W	probably damaging	Het
Rbms1	C	T	2: 60,793,083 (GRCm39)	M9I	probably benign	Het
Ska3	T	C	14: 58,054,105 (GRCm39)	N282D	probably benign	Het
Slc25a24	T	A	3: 109,065,878 (GRCm39)	I245N	possibly damaging	Het
Slc26a4	C	T	12: 31,594,506 (GRCm39)	V281I	probably benign	Het
Smg8	A	T	11: 86,968,881 (GRCm39)	Y958*	probably null	Het
Spata31	A	G	13: 65,070,044 (GRCm39)	T731A	possibly damaging	Het
Spg11	G	T	2: 121,948,842 (GRCm39)	A3D	unknown	Het
Srgap1	A	G	10: 121,691,383 (GRCm39)	Y284H	possibly damaging	Het
Stt3b	A	G	9: 115,083,988 (GRCm39)	I396T	probably damaging	Het
Tnxb	A	G	17: 34,931,946 (GRCm39)	T2160A	probably damaging	Het
Tprg1l	G	C	4: 154,244,815 (GRCm39)	T91S	possibly damaging	Het
Ush2a	G	A	1: 188,689,650 (GRCm39)	V5071I	probably damaging	Het
Vmn2r60	T	A	7: 41,844,954 (GRCm39)	N772K	probably damaging	Het
Vmn2r81	T	A	10: 79,103,283 (GRCm39)	W159R	probably benign	Het
Vmn2r93	G	A	17: 18,546,353 (GRCm39)	V742I	probably benign	Het
Zc3h13	C	A	14: 75,561,909 (GRCm39)	H654N	unknown	Het
Zfp516	T	C	18: 83,005,019 (GRCm39)	L641P	probably benign	Het
Zfp623	T	C	15: 75,819,488 (GRCm39)	V148A	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
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
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'- GGTTCCTACCAAACTCAGAGG -3'
(R):5'- GACCCAAATGTTTCATTCCCAC -3'

Sequencing Primer
(F):5'- CTGAAGTGTGTTGGTGCAAAATTATC -3'
(R):5'- CAAATGTTTCATTCCCACAATGTC -3'

Posted On

2020-09-02