Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02573:Pcnx2'

299083

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcnx2

Ensembl Gene

ENSMUSG00000060212

Gene Name

pecanex homolog 2

Synonyms

Pcnxl2, E330039K12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02573

Quality Score

Status

Chromosome

Chromosomal Location

126478247-126625056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126582012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 908 (A908V)

Ref Sequence

ENSEMBL: ENSMUSP00000119965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047239] [ENSMUST00000131127]

AlphaFold

Q5DU28

Predicted Effect

probably benign
Transcript: ENSMUST00000047239
AA Change: A908V

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

SMART Domains

Protein: ENSMUSP00000042294
Gene: ENSMUSG00000060212
AA Change: A908V

Domain	Start	End	E-Value	Type
transmembrane domain	36	53	N/A	INTRINSIC
transmembrane domain	60	82	N/A	INTRINSIC
low complexity region	94	104	N/A	INTRINSIC
low complexity region	391	415	N/A	INTRINSIC
low complexity region	457	476	N/A	INTRINSIC
low complexity region	727	742	N/A	INTRINSIC
low complexity region	806	817	N/A	INTRINSIC
transmembrane domain	823	842	N/A	INTRINSIC
transmembrane domain	849	866	N/A	INTRINSIC
transmembrane domain	881	902	N/A	INTRINSIC
transmembrane domain	934	956	N/A	INTRINSIC
transmembrane domain	976	998	N/A	INTRINSIC
transmembrane domain	1011	1030	N/A	INTRINSIC
transmembrane domain	1080	1102	N/A	INTRINSIC
transmembrane domain	1104	1126	N/A	INTRINSIC
Pfam:Pecanex_C	1603	1828	3.5e-113	PFAM
low complexity region	1864	1889	N/A	INTRINSIC
low complexity region	1968	1981	N/A	INTRINSIC
low complexity region	2004	2019	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131127
AA Change: A908V

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

SMART Domains

Protein: ENSMUSP00000119965
Gene: ENSMUSG00000060212
AA Change: A908V

Domain	Start	End	E-Value	Type
transmembrane domain	36	53	N/A	INTRINSIC
transmembrane domain	60	82	N/A	INTRINSIC
low complexity region	94	104	N/A	INTRINSIC
low complexity region	391	415	N/A	INTRINSIC
low complexity region	457	476	N/A	INTRINSIC
low complexity region	727	742	N/A	INTRINSIC
low complexity region	806	817	N/A	INTRINSIC
transmembrane domain	823	842	N/A	INTRINSIC
transmembrane domain	849	866	N/A	INTRINSIC
transmembrane domain	934	956	N/A	INTRINSIC
transmembrane domain	968	990	N/A	INTRINSIC
transmembrane domain	1010	1029	N/A	INTRINSIC

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 contains coding mononucleotide repeats that are associated with tumors of high mcrosatellite instability (MSI-H). Defects in this gene are involved in the tumorigenesis of MSI-H colorectal carcinomas. [provided by RefSeq, Jun 2016]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl3	T	A	4: 98,926,171 (GRCm39)	W434R	probably damaging	Het
Atp7b	T	C	8: 22,512,486 (GRCm39)	Q344R	probably benign	Het
B4galt5	C	T	2: 167,146,982 (GRCm39)	R284Q	probably benign	Het
Ccdc80	T	G	16: 44,915,952 (GRCm39)	V236G	probably damaging	Het
Chd8	T	C	14: 52,457,191 (GRCm39)	I926V	possibly damaging	Het
Dgkz	A	C	2: 91,764,542 (GRCm39)	S1030R	probably damaging	Het
Disp3	T	A	4: 148,355,906 (GRCm39)	D318V	probably damaging	Het
Dnaaf10	T	C	11: 17,162,136 (GRCm39)	L58P	possibly damaging	Het
Ehd1	T	C	19: 6,344,330 (GRCm39)	S197P	probably damaging	Het
Emp1	A	G	6: 135,356,945 (GRCm39)	K42R	probably benign	Het
Garin4	G	A	1: 190,896,067 (GRCm39)	T192I	probably damaging	Het
Gm4922	T	A	10: 18,659,423 (GRCm39)	D433V	probably benign	Het
Gsdma	T	C	11: 98,561,577 (GRCm39)		probably benign	Het
Hspbp1	G	T	7: 4,680,852 (GRCm39)	A208E	probably damaging	Het
Il5ra	A	T	6: 106,693,712 (GRCm39)	V342E	possibly damaging	Het
Kif13b	T	C	14: 65,040,880 (GRCm39)	F1660S	probably damaging	Het
Lvrn	A	G	18: 47,010,016 (GRCm39)	E388G	probably damaging	Het
Mettl17	G	A	14: 52,125,504 (GRCm39)		probably null	Het
Mgat5b	T	C	11: 116,868,540 (GRCm39)	Y488H	probably benign	Het
Mtr	A	T	13: 12,214,013 (GRCm39)	D886E	possibly damaging	Het
Naip6	A	T	13: 100,435,979 (GRCm39)	L848*	probably null	Het
Nav3	A	G	10: 109,702,835 (GRCm39)	S233P	probably benign	Het
Nme9	A	T	9: 99,352,908 (GRCm39)	D286V	probably benign	Het
Nod1	C	A	6: 54,920,930 (GRCm39)	A463S	probably benign	Het
Nthl1	A	G	17: 24,852,949 (GRCm39)	K51R	probably benign	Het
Or1n2	A	G	2: 36,797,566 (GRCm39)	I203V	probably damaging	Het
Or6k14	T	A	1: 173,927,696 (GRCm39)	V224D	possibly damaging	Het
Pdcd6	A	G	13: 74,452,098 (GRCm39)	Y181H	probably damaging	Het
Pde10a	A	C	17: 9,180,722 (GRCm39)	I719L	probably benign	Het
Pikfyve	T	A	1: 65,270,014 (GRCm39)		probably null	Het
Plekha5	G	T	6: 140,527,742 (GRCm39)	A396S	probably damaging	Het
Ppfia2	A	G	10: 106,664,789 (GRCm39)	T342A	probably damaging	Het
Rbck1	A	G	2: 152,164,087 (GRCm39)	I339T	possibly damaging	Het
Rbms2	A	T	10: 127,979,309 (GRCm39)	I140N	probably damaging	Het
Scn1b	A	T	7: 30,822,546 (GRCm39)	L78Q	possibly damaging	Het
Slc12a6	T	C	2: 112,188,986 (GRCm39)		probably null	Het
Slc25a30	A	T	14: 76,007,108 (GRCm39)		probably benign	Het
Slc30a7	C	T	3: 115,783,796 (GRCm39)		probably benign	Het
Slc5a10	C	A	11: 61,563,898 (GRCm39)	R546L	possibly damaging	Het
Stxbp4	T	C	11: 90,431,095 (GRCm39)	D405G	probably damaging	Het
Tm4sf19	A	C	16: 32,226,678 (GRCm39)	T156P	possibly damaging	Het
Tmem37	A	T	1: 119,995,719 (GRCm39)	D119E	probably damaging	Het
Tor1aip1	T	A	1: 155,889,117 (GRCm39)	N113I	probably damaging	Het
Ubac2	T	A	14: 122,144,802 (GRCm39)	Y87N	possibly damaging	Het
Usp29	A	T	7: 6,965,617 (GRCm39)		probably null	Het
Zfp276	A	G	8: 123,991,736 (GRCm39)	E428G	probably damaging	Het

Other mutations in Pcnx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Pcnx2	APN	8	126,614,324 (GRCm39)	missense	probably damaging	1.00
IGL00900:Pcnx2	APN	8	126,589,975 (GRCm39)	splice site	probably benign
IGL01134:Pcnx2	APN	8	126,589,889 (GRCm39)	missense	probably benign
IGL01370:Pcnx2	APN	8	126,528,222 (GRCm39)	missense	probably damaging	0.96
IGL01452:Pcnx2	APN	8	126,564,771 (GRCm39)	missense	probably damaging	1.00
IGL01477:Pcnx2	APN	8	126,512,044 (GRCm39)	missense	probably damaging	1.00
IGL01610:Pcnx2	APN	8	126,566,372 (GRCm39)	missense	possibly damaging	0.67
IGL01640:Pcnx2	APN	8	126,528,297 (GRCm39)	missense	probably benign	0.14
IGL01645:Pcnx2	APN	8	126,614,656 (GRCm39)	missense	probably damaging	1.00
IGL01876:Pcnx2	APN	8	126,592,770 (GRCm39)	missense	probably benign	0.31
IGL01933:Pcnx2	APN	8	126,488,393 (GRCm39)	missense	probably damaging	1.00
IGL02208:Pcnx2	APN	8	126,478,894 (GRCm39)	missense	probably benign	0.30
IGL02810:Pcnx2	APN	8	126,613,942 (GRCm39)	missense	probably benign	0.03
IGL02859:Pcnx2	APN	8	126,589,912 (GRCm39)	missense	probably damaging	1.00
IGL02879:Pcnx2	APN	8	126,498,796 (GRCm39)	missense	probably damaging	1.00
IGL03202:Pcnx2	APN	8	126,498,783 (GRCm39)	missense	probably damaging	0.98
IGL03259:Pcnx2	APN	8	126,480,388 (GRCm39)	missense	probably benign	0.19
IGL03395:Pcnx2	APN	8	126,614,262 (GRCm39)	missense	probably benign	0.00
IGL03410:Pcnx2	APN	8	126,613,779 (GRCm39)	missense	probably damaging	1.00
gallen	UTSW	8	126,617,859 (GRCm39)	missense	probably damaging	1.00
hotzone	UTSW	8	126,617,880 (GRCm39)	missense	probably benign	0.00
R0107:Pcnx2	UTSW	8	126,480,325 (GRCm39)	missense	probably benign	0.29
R0477:Pcnx2	UTSW	8	126,488,306 (GRCm39)	missense	probably damaging	0.99
R0610:Pcnx2	UTSW	8	126,566,426 (GRCm39)	missense	probably damaging	1.00
R0645:Pcnx2	UTSW	8	126,487,459 (GRCm39)	missense	possibly damaging	0.64
R0894:Pcnx2	UTSW	8	126,613,665 (GRCm39)	splice site	probably benign
R1083:Pcnx2	UTSW	8	126,498,843 (GRCm39)	missense	probably damaging	1.00
R1199:Pcnx2	UTSW	8	126,614,053 (GRCm39)	missense	possibly damaging	0.60
R1296:Pcnx2	UTSW	8	126,500,572 (GRCm39)	missense	probably damaging	1.00
R1445:Pcnx2	UTSW	8	126,479,023 (GRCm39)	missense	probably damaging	0.99
R1467:Pcnx2	UTSW	8	126,480,289 (GRCm39)	missense	possibly damaging	0.77
R1467:Pcnx2	UTSW	8	126,480,289 (GRCm39)	missense	possibly damaging	0.77
R1524:Pcnx2	UTSW	8	126,617,880 (GRCm39)	missense	probably benign	0.00
R1537:Pcnx2	UTSW	8	126,604,188 (GRCm39)	missense	possibly damaging	0.94
R1574:Pcnx2	UTSW	8	126,500,669 (GRCm39)	missense	probably damaging	1.00
R1574:Pcnx2	UTSW	8	126,500,669 (GRCm39)	missense	probably damaging	1.00
R1593:Pcnx2	UTSW	8	126,486,012 (GRCm39)	missense	probably benign	0.11
R1598:Pcnx2	UTSW	8	126,498,825 (GRCm39)	missense	probably benign	0.03
R1603:Pcnx2	UTSW	8	126,566,365 (GRCm39)	missense	probably damaging	1.00
R1697:Pcnx2	UTSW	8	126,577,087 (GRCm39)	missense	probably damaging	1.00
R1759:Pcnx2	UTSW	8	126,500,717 (GRCm39)	missense	probably damaging	1.00
R1855:Pcnx2	UTSW	8	126,534,735 (GRCm39)	splice site	probably benign
R1863:Pcnx2	UTSW	8	126,545,525 (GRCm39)	missense	probably damaging	0.98
R1930:Pcnx2	UTSW	8	126,614,453 (GRCm39)	missense	probably benign	0.10
R1967:Pcnx2	UTSW	8	126,542,422 (GRCm39)	missense	possibly damaging	0.51
R1974:Pcnx2	UTSW	8	126,614,110 (GRCm39)	missense	probably benign	0.00
R1998:Pcnx2	UTSW	8	126,613,882 (GRCm39)	missense	probably damaging	1.00
R2034:Pcnx2	UTSW	8	126,545,406 (GRCm39)	critical splice donor site	probably null
R2072:Pcnx2	UTSW	8	126,488,481 (GRCm39)	missense	possibly damaging	0.90
R2096:Pcnx2	UTSW	8	126,485,987 (GRCm39)	missense	probably benign	0.27
R2216:Pcnx2	UTSW	8	126,614,816 (GRCm39)	missense	probably benign	0.00
R2290:Pcnx2	UTSW	8	126,604,334 (GRCm39)	splice site	probably benign
R2373:Pcnx2	UTSW	8	126,480,190 (GRCm39)	missense	probably damaging	1.00
R2484:Pcnx2	UTSW	8	126,617,859 (GRCm39)	missense	probably damaging	1.00
R2849:Pcnx2	UTSW	8	126,487,666 (GRCm39)	missense	probably damaging	1.00
R2891:Pcnx2	UTSW	8	126,617,797 (GRCm39)	missense	probably damaging	1.00
R2892:Pcnx2	UTSW	8	126,617,797 (GRCm39)	missense	probably damaging	1.00
R2970:Pcnx2	UTSW	8	126,528,275 (GRCm39)	missense	probably damaging	1.00
R3013:Pcnx2	UTSW	8	126,614,509 (GRCm39)	missense	probably benign	0.05
R3608:Pcnx2	UTSW	8	126,614,840 (GRCm39)	missense	probably benign
R3876:Pcnx2	UTSW	8	126,614,897 (GRCm39)	missense	probably benign
R4349:Pcnx2	UTSW	8	126,489,590 (GRCm39)	missense	probably damaging	0.98
R4352:Pcnx2	UTSW	8	126,489,590 (GRCm39)	missense	probably damaging	0.98
R4353:Pcnx2	UTSW	8	126,489,590 (GRCm39)	missense	probably damaging	0.98
R4361:Pcnx2	UTSW	8	126,495,037 (GRCm39)	nonsense	probably null
R4735:Pcnx2	UTSW	8	126,554,780 (GRCm39)	critical splice donor site	probably null
R4749:Pcnx2	UTSW	8	126,614,327 (GRCm39)	missense	probably damaging	1.00
R4812:Pcnx2	UTSW	8	126,592,678 (GRCm39)	missense	probably benign	0.00
R4819:Pcnx2	UTSW	8	126,581,969 (GRCm39)	missense	probably benign	0.04
R4829:Pcnx2	UTSW	8	126,587,797 (GRCm39)	splice site	probably null
R4832:Pcnx2	UTSW	8	126,478,927 (GRCm39)	missense	probably damaging	0.99
R4876:Pcnx2	UTSW	8	126,498,847 (GRCm39)	missense	probably damaging	1.00
R4974:Pcnx2	UTSW	8	126,577,869 (GRCm39)	missense	probably benign	0.00
R5057:Pcnx2	UTSW	8	126,581,930 (GRCm39)	missense	possibly damaging	0.95
R5078:Pcnx2	UTSW	8	126,478,895 (GRCm39)	missense	probably benign
R5114:Pcnx2	UTSW	8	126,564,749 (GRCm39)	missense	possibly damaging	0.89
R5195:Pcnx2	UTSW	8	126,528,288 (GRCm39)	missense	possibly damaging	0.69
R5239:Pcnx2	UTSW	8	126,587,821 (GRCm39)	splice site	probably null
R5348:Pcnx2	UTSW	8	126,545,495 (GRCm39)	missense	probably damaging	1.00
R5398:Pcnx2	UTSW	8	126,614,687 (GRCm39)	missense	possibly damaging	0.63
R5448:Pcnx2	UTSW	8	126,614,888 (GRCm39)	missense	probably benign	0.14
R5534:Pcnx2	UTSW	8	126,564,754 (GRCm39)	missense	possibly damaging	0.65
R5624:Pcnx2	UTSW	8	126,488,262 (GRCm39)	critical splice donor site	probably null
R5629:Pcnx2	UTSW	8	126,624,780 (GRCm39)	missense	probably damaging	1.00
R5630:Pcnx2	UTSW	8	126,587,697 (GRCm39)	missense	probably damaging	0.99
R5782:Pcnx2	UTSW	8	126,480,223 (GRCm39)	missense	probably damaging	1.00
R5877:Pcnx2	UTSW	8	126,480,467 (GRCm39)	missense	probably damaging	0.99
R5879:Pcnx2	UTSW	8	126,500,685 (GRCm39)	missense	probably damaging	1.00
R6114:Pcnx2	UTSW	8	126,500,686 (GRCm39)	missense	probably damaging	1.00
R6152:Pcnx2	UTSW	8	126,480,491 (GRCm39)	missense	probably damaging	0.99
R6154:Pcnx2	UTSW	8	126,489,552 (GRCm39)	missense	probably damaging	1.00
R6283:Pcnx2	UTSW	8	126,604,325 (GRCm39)	missense	probably damaging	0.99
R6500:Pcnx2	UTSW	8	126,480,224 (GRCm39)	missense	probably damaging	1.00
R6629:Pcnx2	UTSW	8	126,617,851 (GRCm39)	missense	probably benign	0.00
R6708:Pcnx2	UTSW	8	126,587,692 (GRCm39)	critical splice donor site	probably null
R6736:Pcnx2	UTSW	8	126,479,056 (GRCm39)	splice site	probably null
R6748:Pcnx2	UTSW	8	126,577,074 (GRCm39)	missense	probably damaging	1.00
R6788:Pcnx2	UTSW	8	126,498,839 (GRCm39)	missense	probably damaging	1.00
R6849:Pcnx2	UTSW	8	126,587,949 (GRCm39)	missense	probably damaging	1.00
R6947:Pcnx2	UTSW	8	126,577,021 (GRCm39)	critical splice donor site	probably null
R7034:Pcnx2	UTSW	8	126,512,041 (GRCm39)	missense	probably damaging	1.00
R7100:Pcnx2	UTSW	8	126,485,853 (GRCm39)	missense	probably benign	0.16
R7124:Pcnx2	UTSW	8	126,480,356 (GRCm39)	missense	probably damaging	0.99
R7130:Pcnx2	UTSW	8	126,480,323 (GRCm39)	nonsense	probably null
R7133:Pcnx2	UTSW	8	126,528,243 (GRCm39)	missense	probably benign	0.01
R7271:Pcnx2	UTSW	8	126,613,690 (GRCm39)	missense	probably benign
R7326:Pcnx2	UTSW	8	126,613,822 (GRCm39)	missense	probably damaging	1.00
R7373:Pcnx2	UTSW	8	126,534,766 (GRCm39)	missense	probably damaging	1.00
R7397:Pcnx2	UTSW	8	126,617,624 (GRCm39)	splice site	probably null
R7662:Pcnx2	UTSW	8	126,545,510 (GRCm39)	nonsense	probably null
R7693:Pcnx2	UTSW	8	126,613,864 (GRCm39)	missense	probably benign	0.09
R7726:Pcnx2	UTSW	8	126,577,069 (GRCm39)	missense	probably benign	0.00
R7745:Pcnx2	UTSW	8	126,577,846 (GRCm39)	missense	probably benign	0.04
R7792:Pcnx2	UTSW	8	126,618,757 (GRCm39)	missense	possibly damaging	0.63
R7797:Pcnx2	UTSW	8	126,512,087 (GRCm39)	missense	possibly damaging	0.70
R7921:Pcnx2	UTSW	8	126,564,602 (GRCm39)	missense	probably benign
R7984:Pcnx2	UTSW	8	126,485,865 (GRCm39)	missense	probably benign
R8098:Pcnx2	UTSW	8	126,495,040 (GRCm39)	missense	probably damaging	1.00
R8277:Pcnx2	UTSW	8	126,592,755 (GRCm39)	missense	probably damaging	1.00
R8312:Pcnx2	UTSW	8	126,489,589 (GRCm39)	missense	possibly damaging	0.69
R8354:Pcnx2	UTSW	8	126,488,357 (GRCm39)	missense	probably damaging	0.99
R8378:Pcnx2	UTSW	8	126,487,649 (GRCm39)	missense	probably damaging	1.00
R8713:Pcnx2	UTSW	8	126,545,525 (GRCm39)	missense	probably damaging	1.00
R8714:Pcnx2	UTSW	8	126,500,546 (GRCm39)	missense	probably benign
R8753:Pcnx2	UTSW	8	126,613,999 (GRCm39)	missense	probably benign	0.15
R8790:Pcnx2	UTSW	8	126,604,306 (GRCm39)	missense	probably benign
R8925:Pcnx2	UTSW	8	126,614,659 (GRCm39)	missense	probably benign	0.01
R8927:Pcnx2	UTSW	8	126,614,659 (GRCm39)	missense	probably benign	0.01
R8965:Pcnx2	UTSW	8	126,485,853 (GRCm39)	missense	probably benign	0.16
R9006:Pcnx2	UTSW	8	126,613,996 (GRCm39)	missense	probably benign	0.00
R9082:Pcnx2	UTSW	8	126,613,753 (GRCm39)	missense	probably damaging	1.00
R9202:Pcnx2	UTSW	8	126,616,416 (GRCm39)	critical splice acceptor site	probably null
R9315:Pcnx2	UTSW	8	126,614,119 (GRCm39)	missense	probably benign	0.00
R9434:Pcnx2	UTSW	8	126,542,512 (GRCm39)	missense	probably benign	0.00
R9660:Pcnx2	UTSW	8	126,487,592 (GRCm39)	missense	probably damaging	1.00
R9686:Pcnx2	UTSW	8	126,592,766 (GRCm39)	missense	probably benign
R9766:Pcnx2	UTSW	8	126,488,313 (GRCm39)	missense	probably damaging	1.00
R9778:Pcnx2	UTSW	8	126,512,176 (GRCm39)	missense	probably benign	0.00
R9792:Pcnx2	UTSW	8	126,534,820 (GRCm39)	missense	probably damaging	0.99
RF018:Pcnx2	UTSW	8	126,604,258 (GRCm39)	missense	probably damaging	1.00
Z1088:Pcnx2	UTSW	8	126,592,757 (GRCm39)	missense	probably damaging	1.00
Z1088:Pcnx2	UTSW	8	126,553,667 (GRCm39)	missense	probably damaging	1.00
Z1176:Pcnx2	UTSW	8	126,564,753 (GRCm39)	missense	probably benign	0.30
Z1176:Pcnx2	UTSW	8	126,488,393 (GRCm39)	missense	probably damaging	1.00
Z1177:Pcnx2	UTSW	8	126,614,699 (GRCm39)	nonsense	probably null

Posted On

2015-04-16