Mutagenetix > Incidental Mutation

Incidental Mutation 'R9503:Pcnx4'

717708

Institutional Source

Beutler Lab

Gene Symbol

Pcnx4

Ensembl Gene

ENSMUSG00000034501

Gene Name

pecanex homolog 4

Synonyms

Pcnxl4, 1810048J11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R9503 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72583157-72626893 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 72588561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 123 (S123I)

Ref Sequence

ENSEMBL: ENSMUSP00000038916 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000044352
AA Change: S123I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000038916
Gene: ENSMUSG00000034501
AA Change: S123I

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,987,458 (GRCm39)	V2914E	probably damaging	Het
Bcan	G	A	3: 87,900,748 (GRCm39)	P495L	probably benign	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Cc2d2b	C	T	19: 40,804,275 (GRCm39)	T934M	unknown	Het
Ciao1	T	C	2: 127,084,916 (GRCm39)	D274G	probably damaging	Het
Cpne9	G	T	6: 113,271,732 (GRCm39)	R364L	possibly damaging	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Fbn2	T	C	18: 58,171,313 (GRCm39)	Y2150C	probably damaging	Het
Hdac4	A	T	1: 91,929,956 (GRCm39)	F177I	probably damaging	Het
Lama2	A	G	10: 26,865,440 (GRCm39)	V2906A	possibly damaging	Het
Mpp2	T	C	11: 101,955,468 (GRCm39)	D94G	probably benign	Het
Nudt14	A	G	12: 112,898,566 (GRCm39)	L178P	probably damaging	Het
Or14a258	C	T	7: 86,035,228 (GRCm39)	M213I	probably benign	Het
Pcnt	A	G	10: 76,263,882 (GRCm39)	W361R	possibly damaging	Het
Pnp	A	G	14: 51,188,423 (GRCm39)	N199S	probably benign	Het
Prr12	G	T	7: 44,693,020 (GRCm39)	P1504Q	unknown	Het
Pus7l	T	A	15: 94,438,666 (GRCm39)	I60L	probably benign	Het
Strn3	A	T	12: 51,656,894 (GRCm39)	F795I	possibly damaging	Het
Stxbp3	A	G	3: 108,710,911 (GRCm39)	L327P	probably damaging	Het
Themis2	A	G	4: 132,510,657 (GRCm39)		probably null	Het
Ube2j1	C	T	4: 33,049,781 (GRCm39)	Q260*	probably null	Het
Unc93b1	A	G	19: 3,986,373 (GRCm39)	I136V	possibly damaging	Het
Usp9y	T	A	Y: 1,316,045 (GRCm39)	Q2030L	possibly damaging	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
R5718:Pcnx4	UTSW	12	72,613,968 (GRCm39)	missense	possibly damaging	0.49
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
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'- CCTTTTCCTGATGCCATGGG -3'
(R):5'- CCTATGCAAAGTGTTATCCACCC -3'

Sequencing Primer
(F):5'- GGGAACGCTTCTATACCAACTGG -3'
(R):5'- TGCAAAGTGTTATCCACCCAAACAC -3'

Posted On

2022-07-18