Mutagenetix > Incidental Mutation

Incidental Mutation 'R5718:Pcnx4'

451302

Institutional Source

Beutler Lab

Gene Symbol

Pcnx4

Ensembl Gene

ENSMUSG00000034501

Gene Name

pecanex homolog 4

Synonyms

Pcnxl4, 1810048J11Rik

MMRRC Submission

043338-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R5718 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72583157-72626893 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72613968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 638 (F638I)

Ref Sequence

ENSEMBL: ENSMUSP00000038916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044352]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044352
AA Change: F638I

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000038916
Gene: ENSMUSG00000034501
AA Change: F638I

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	174	196	N/A	INTRINSIC
transmembrane domain	247	264	N/A	INTRINSIC
transmembrane domain	296	330	N/A	INTRINSIC
transmembrane domain	368	390	N/A	INTRINSIC
transmembrane domain	400	417	N/A	INTRINSIC
transmembrane domain	454	476	N/A	INTRINSIC
low complexity region	478	489	N/A	INTRINSIC
transmembrane domain	546	564	N/A	INTRINSIC
transmembrane domain	577	599	N/A	INTRINSIC
low complexity region	657	670	N/A	INTRINSIC
low complexity region	801	813	N/A	INTRINSIC
Pfam:Pecanex_C	999	1174	4.2e-28	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	T	C	8: 27,603,514 (GRCm39)		probably null	Het
Ahctf1	G	T	1: 179,596,904 (GRCm39)	H81N	possibly damaging	Het
Alyref2	T	C	1: 171,331,678 (GRCm39)	S152P	possibly damaging	Het
Arhgef7	C	T	8: 11,835,774 (GRCm39)	T20I	probably damaging	Het
Armc3	T	G	2: 19,308,610 (GRCm39)	Y759*	probably null	Het
Atg5	A	G	10: 44,238,983 (GRCm39)	S255G	probably benign	Het
Atp11b	A	G	3: 35,891,665 (GRCm39)	I1026V	probably benign	Het
Atp1a2	C	A	1: 172,107,009 (GRCm39)	K770N	probably damaging	Het
Bptf	G	T	11: 107,002,260 (GRCm39)	A284E	probably damaging	Het
Celsr2	A	G	3: 108,300,674 (GRCm39)	S815P	probably benign	Het
Chrna5	A	G	9: 54,905,389 (GRCm39)	H67R	probably benign	Het
Cic	A	G	7: 24,972,203 (GRCm39)	I645V	probably benign	Het
Clpx	A	T	9: 65,207,246 (GRCm39)	Q48L	probably benign	Het
Crhr2	G	A	6: 55,069,085 (GRCm39)	Q397*	probably null	Het
Cyp11a1	G	A	9: 57,925,508 (GRCm39)	V48I	probably benign	Het
Dchs1	C	T	7: 105,404,955 (GRCm39)	R2529H	probably benign	Het
Dnah7c	A	T	1: 46,787,826 (GRCm39)	H3293L	possibly damaging	Het
Dock6	G	T	9: 21,735,789 (GRCm39)	D986E	probably benign	Het
Efcab6	T	A	15: 83,788,439 (GRCm39)	N952Y	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epg5	G	A	18: 78,029,618 (GRCm39)	C1327Y	probably damaging	Het
Fbxw18	T	C	9: 109,520,636 (GRCm39)	E241G	probably benign	Het
Fsd1	T	G	17: 56,297,542 (GRCm39)		probably benign	Het
Gcnt3	A	G	9: 69,941,552 (GRCm39)	S339P	probably benign	Het
Gldc	T	A	19: 30,088,172 (GRCm39)	K829*	probably null	Het
Gli3	G	A	13: 15,652,750 (GRCm39)		probably null	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Hmcn1	A	T	1: 150,566,351 (GRCm39)	C2217*	probably null	Het
Hmcn1	A	T	1: 150,485,417 (GRCm39)	I4395N	probably damaging	Het
Hmgxb3	A	G	18: 61,273,909 (GRCm39)	M861T	probably benign	Het
Ift172	A	G	5: 31,412,621 (GRCm39)	S1545P	possibly damaging	Het
Jak3	C	A	8: 72,136,998 (GRCm39)	L725M	probably damaging	Het
Lrig2	A	T	3: 104,375,931 (GRCm39)	C90*	probably null	Het
Mcm7	C	T	5: 138,163,081 (GRCm39)	R357H	possibly damaging	Het
Mcoln2	T	C	3: 145,887,581 (GRCm39)	S333P	probably damaging	Het
Mrpl22	A	T	11: 58,068,109 (GRCm39)	I136L	probably benign	Het
Ncam2	A	T	16: 81,386,702 (GRCm39)		probably null	Het
Ncdn	G	A	4: 126,643,743 (GRCm39)	Q360*	probably null	Het
Nsun2	A	G	13: 69,771,403 (GRCm39)	K338E	probably benign	Het
Obscn	T	C	11: 58,927,634 (GRCm39)	T6105A	probably damaging	Het
Or2aj6	G	A	16: 19,443,139 (GRCm39)	S237F	probably benign	Het
Or8g36	A	T	9: 39,422,338 (GRCm39)	L226H	probably damaging	Het
Pfn3	T	C	13: 55,562,853 (GRCm39)	I43V	probably benign	Het
Pigm	C	A	1: 172,205,012 (GRCm39)		probably null	Het
Pkhd1l1	T	A	15: 44,408,813 (GRCm39)	S2433R	probably damaging	Het
Pomt1	C	A	2: 32,138,704 (GRCm39)	A440D	possibly damaging	Het
Ptprj	T	C	2: 90,288,613 (GRCm39)	D691G	probably benign	Het
Qrich1	T	A	9: 108,406,022 (GRCm39)	S72T	probably damaging	Het
Ralgapa2	T	A	2: 146,295,326 (GRCm39)		probably null	Het
Rarg	A	C	15: 102,149,502 (GRCm39)	S156A	probably damaging	Het
Rasl11a	A	G	5: 146,783,954 (GRCm39)	K133R	probably benign	Het
Rcor1	A	G	12: 111,068,069 (GRCm39)	D158G	probably benign	Het
Rpn2	C	T	2: 157,163,747 (GRCm39)	T613M	probably damaging	Het
Sipa1l2	T	A	8: 126,217,987 (GRCm39)	H450L	probably damaging	Het
Slc25a21	T	C	12: 56,764,941 (GRCm39)	I263V	probably benign	Het
Slc25a32	A	T	15: 38,960,957 (GRCm39)	V242E	probably benign	Het
Slc5a5	T	A	8: 71,340,399 (GRCm39)	T484S	probably benign	Het
Tdrd3	T	C	14: 87,743,876 (GRCm39)	V608A	probably benign	Het
Thnsl1	C	A	2: 21,216,811 (GRCm39)	H188Q	possibly damaging	Het
Tshz1	A	T	18: 84,032,649 (GRCm39)	H586Q	probably damaging	Het
Vmn2r27	C	T	6: 124,169,103 (GRCm39)	A676T	possibly damaging	Het
Wasf1	G	A	10: 40,802,570 (GRCm39)	R75Q	probably damaging	Het
Xbp1	T	A	11: 5,471,903 (GRCm39)	F10I	probably benign	Het
Zbtb1	G	A	12: 76,433,698 (GRCm39)	M561I	probably benign	Het
Zfp708	T	C	13: 67,218,522 (GRCm39)	K446E	probably benign	Het

Other mutations in Pcnx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Pcnx4	APN	12	72,626,139 (GRCm39)	missense	probably damaging	0.97
IGL01160:Pcnx4	APN	12	72,626,151 (GRCm39)	missense	probably damaging	1.00
IGL01385:Pcnx4	APN	12	72,620,520 (GRCm39)	missense	probably damaging	1.00
IGL01452:Pcnx4	APN	12	72,621,174 (GRCm39)	missense	possibly damaging	0.79
IGL01984:Pcnx4	APN	12	72,621,183 (GRCm39)	missense	probably benign	0.25
IGL02073:Pcnx4	APN	12	72,621,102 (GRCm39)	missense	possibly damaging	0.92
IGL02726:Pcnx4	APN	12	72,620,986 (GRCm39)	missense	probably benign	0.12
IGL02824:Pcnx4	APN	12	72,602,345 (GRCm39)	missense	probably benign	0.02
R0007:Pcnx4	UTSW	12	72,602,353 (GRCm39)	missense	possibly damaging	0.79
R0158:Pcnx4	UTSW	12	72,603,076 (GRCm39)	missense	probably benign
R0575:Pcnx4	UTSW	12	72,614,010 (GRCm39)	missense	probably benign	0.00
R0783:Pcnx4	UTSW	12	72,622,252 (GRCm39)	missense	probably damaging	1.00
R1420:Pcnx4	UTSW	12	72,602,760 (GRCm39)	missense	probably benign
R1497:Pcnx4	UTSW	12	72,621,174 (GRCm39)	missense	probably benign	0.03
R2093:Pcnx4	UTSW	12	72,626,216 (GRCm39)	missense	probably damaging	1.00
R2241:Pcnx4	UTSW	12	72,620,928 (GRCm39)	missense	probably damaging	0.99
R2287:Pcnx4	UTSW	12	72,622,172 (GRCm39)	missense	probably benign	0.05
R2418:Pcnx4	UTSW	12	72,603,037 (GRCm39)	missense	probably damaging	1.00
R2437:Pcnx4	UTSW	12	72,588,587 (GRCm39)	missense	probably damaging	1.00
R2509:Pcnx4	UTSW	12	72,613,746 (GRCm39)	missense	probably damaging	1.00
R2510:Pcnx4	UTSW	12	72,613,746 (GRCm39)	missense	probably damaging	1.00
R2512:Pcnx4	UTSW	12	72,603,573 (GRCm39)	critical splice acceptor site	probably null
R3691:Pcnx4	UTSW	12	72,620,493 (GRCm39)	missense	probably damaging	1.00
R3760:Pcnx4	UTSW	12	72,613,780 (GRCm39)	missense	probably damaging	1.00
R3949:Pcnx4	UTSW	12	72,603,076 (GRCm39)	missense	probably benign
R4065:Pcnx4	UTSW	12	72,603,134 (GRCm39)	critical splice donor site	probably null
R4757:Pcnx4	UTSW	12	72,603,067 (GRCm39)	missense	probably benign	0.00
R4804:Pcnx4	UTSW	12	72,620,976 (GRCm39)	missense	probably benign	0.28
R4867:Pcnx4	UTSW	12	72,620,726 (GRCm39)	missense	probably benign	0.01
R4879:Pcnx4	UTSW	12	72,613,959 (GRCm39)	missense	probably damaging	1.00
R5108:Pcnx4	UTSW	12	72,620,855 (GRCm39)	missense	probably benign	0.01
R5350:Pcnx4	UTSW	12	72,626,138 (GRCm39)	missense	probably damaging	1.00
R5504:Pcnx4	UTSW	12	72,621,222 (GRCm39)	missense	probably damaging	1.00
R5943:Pcnx4	UTSW	12	72,626,232 (GRCm39)	missense	probably damaging	0.99
R6195:Pcnx4	UTSW	12	72,603,648 (GRCm39)	missense	possibly damaging	0.92
R7134:Pcnx4	UTSW	12	72,613,750 (GRCm39)	missense	probably damaging	0.96
R7695:Pcnx4	UTSW	12	72,588,350 (GRCm39)	missense	probably benign	0.00
R7837:Pcnx4	UTSW	12	72,602,892 (GRCm39)	missense	probably damaging	1.00
R7850:Pcnx4	UTSW	12	72,602,842 (GRCm39)	missense	probably benign
R8153:Pcnx4	UTSW	12	72,603,017 (GRCm39)	missense	probably benign	0.00
R8174:Pcnx4	UTSW	12	72,603,687 (GRCm39)	missense	probably damaging	1.00
R8322:Pcnx4	UTSW	12	72,603,437 (GRCm39)	missense	probably damaging	1.00
R8340:Pcnx4	UTSW	12	72,613,851 (GRCm39)	missense	probably damaging	1.00
R8399:Pcnx4	UTSW	12	72,620,985 (GRCm39)	missense	probably benign	0.39
R8545:Pcnx4	UTSW	12	72,602,856 (GRCm39)	missense	probably benign	0.00
R9018:Pcnx4	UTSW	12	72,603,437 (GRCm39)	missense	probably damaging	1.00
R9145:Pcnx4	UTSW	12	72,603,043 (GRCm39)	missense	probably damaging	1.00
R9149:Pcnx4	UTSW	12	72,613,671 (GRCm39)	missense	probably benign
R9233:Pcnx4	UTSW	12	72,603,587 (GRCm39)	missense	possibly damaging	0.95
R9378:Pcnx4	UTSW	12	72,602,664 (GRCm39)	missense	probably damaging	1.00
R9503:Pcnx4	UTSW	12	72,588,561 (GRCm39)	missense	probably damaging	1.00
R9619:Pcnx4	UTSW	12	72,622,282 (GRCm39)	missense	possibly damaging	0.81
R9670:Pcnx4	UTSW	12	72,613,792 (GRCm39)	missense	probably benign	0.00
R9719:Pcnx4	UTSW	12	72,603,039 (GRCm39)	missense	probably damaging	1.00
R9722:Pcnx4	UTSW	12	72,603,039 (GRCm39)	missense	probably damaging	1.00
R9723:Pcnx4	UTSW	12	72,603,039 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAACGACTTTGTGTGTCCTCAAC -3'
(R):5'- TGGCTACACATCAAAGTACTGG -3'

Sequencing Primer
(F):5'- TGTCCTCAACACTGTATTCGC -3'
(R):5'- GCTACACATCAAAGTACTGGAATCTG -3'

Posted On

2017-01-03