Mutagenetix > Incidental Mutation

Incidental Mutation 'R5348:Pcnx2'

422739

Institutional Source

Beutler Lab

Gene Symbol

Pcnx2

Ensembl Gene

ENSMUSG00000060212

Gene Name

pecanex homolog 2

Synonyms

Pcnxl2, E330039K12Rik

MMRRC Submission

042927-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5348 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126478247-126625056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126545495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1172 (E1172G)

Ref Sequence

ENSEMBL: ENSMUSP00000042294 (fasta)

Gene Model

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

AlphaFold

Q5DU28

Predicted Effect

probably damaging
Transcript: ENSMUST00000047239
AA Change: E1172G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042294
Gene: ENSMUSG00000060212
AA Change: E1172G

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

noncoding transcript
Transcript: ENSMUST00000120589

SMART Domains

Protein: ENSMUSP00000113111
Gene: ENSMUSG00000060212

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Pecanex_C	533	762	4e-122	PFAM
low complexity region	797	822	N/A	INTRINSIC
low complexity region	901	914	N/A	INTRINSIC
low complexity region	937	952	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,978,634 (GRCm39)	C275S	possibly damaging	Het
Bltp1	A	G	3: 37,102,295 (GRCm39)	E1331G	probably damaging	Het
Cdk12	T	A	11: 98,095,118 (GRCm39)	S309T	probably benign	Het
Cep295nl	T	C	11: 118,224,425 (GRCm39)	R140G	probably damaging	Het
Chd8	A	G	14: 52,470,155 (GRCm39)	V485A	probably damaging	Het
Chn2	A	G	6: 54,277,203 (GRCm39)	I279V	probably damaging	Het
Cux2	A	G	5: 122,004,041 (GRCm39)	S1032P	probably damaging	Het
Ddx55	T	A	5: 124,692,628 (GRCm39)	M44K	probably damaging	Het
Dpyd	T	A	3: 118,575,592 (GRCm39)	H143Q	probably benign	Het
Fbxo10	A	G	4: 45,058,934 (GRCm39)	W268R	probably damaging	Het
Gmfg	A	G	7: 28,145,819 (GRCm39)	D86G	probably benign	Het
Gpd1	T	C	15: 99,620,021 (GRCm39)	V273A	possibly damaging	Het
Grhpr	T	C	4: 44,985,393 (GRCm39)	I158T	probably damaging	Het
Itpr2	A	G	6: 146,378,191 (GRCm39)	F53L	possibly damaging	Het
Kctd21	A	G	7: 96,997,177 (GRCm39)	I217V	probably benign	Het
Lrfn2	A	G	17: 49,403,718 (GRCm39)	T614A	probably benign	Het
Lrrc7	T	A	3: 157,880,963 (GRCm39)	D491V	probably benign	Het
Myo7b	T	C	18: 32,116,972 (GRCm39)	E916G	probably damaging	Het
Nf1	C	T	11: 79,455,725 (GRCm39)	T550I	probably damaging	Het
Nsd1	A	G	13: 55,460,147 (GRCm39)	T2125A	probably benign	Het
Olfml2b	A	G	1: 170,489,995 (GRCm39)	E205G	probably benign	Het
Or8k37	A	T	2: 86,469,150 (GRCm39)	L301I	probably benign	Het
Papolb	T	C	5: 142,514,972 (GRCm39)	T224A	possibly damaging	Het
Ppip5k2	A	G	1: 97,675,317 (GRCm39)	L362S	possibly damaging	Het
Ppp1r9b	T	A	11: 94,887,438 (GRCm39)	Y59*	probably null	Het
Pramel12	T	C	4: 143,143,351 (GRCm39)	L39P	probably damaging	Het
Rapgef5	T	A	12: 117,652,346 (GRCm39)	S76R	probably benign	Het
Rnh1	A	T	7: 140,743,321 (GRCm39)	V218D	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Slc4a7	G	T	14: 14,786,310 (GRCm38)	V999L	probably benign	Het
Slco4c1	A	T	1: 96,770,254 (GRCm39)	I270N	probably damaging	Het
Tdp1	A	G	12: 99,881,765 (GRCm39)	Y498C	probably damaging	Het
Tfip11	A	G	5: 112,483,534 (GRCm39)	S650G	probably benign	Het
Ttn	T	C	2: 76,608,638 (GRCm39)	T17793A	possibly damaging	Het
Ulk2	T	C	11: 61,674,439 (GRCm39)	T856A	probably benign	Het
Vps13d	C	T	4: 144,792,459 (GRCm39)	G3726E	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
IGL02573:Pcnx2	APN	8	126,582,012 (GRCm39)	missense	probably benign	0.34
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
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

Predicted Primers

PCR Primer
(F):5'- GCTGTGCTCAGAGAAATCCC -3'
(R):5'- CTTGAAAACACGGGTGCTG -3'

Sequencing Primer
(F):5'- CTCAGAGAAATCCCAATGGGTTCTG -3'
(R):5'- TCTGTGGACTGGGCAGACTC -3'

Posted On

2016-08-04