Mutagenetix > Incidental Mutation

Incidental Mutation 'R2241:Pcnx4'

240671

Institutional Source

Beutler Lab

Gene Symbol

Pcnx4

Ensembl Gene

ENSMUSG00000034501

Gene Name

pecanex homolog 4

Synonyms

Pcnxl4, 1810048J11Rik

MMRRC Submission

040241-MU

Accession Numbers

Essential gene?

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

Stock #

R2241 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72583157-72626893 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72620928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 916 (L916P)

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: L916P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038916
Gene: ENSMUSG00000034501
AA Change: L916P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222413

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	G	T	15: 64,571,230 (GRCm39)	L1138I	possibly damaging	Het
Aftph	T	C	11: 20,676,328 (GRCm39)	D427G	possibly damaging	Het
Cep350	C	T	1: 155,834,302 (GRCm39)		probably null	Het
Clca4b	A	T	3: 144,616,987 (GRCm39)	S888T	probably benign	Het
Cyb5b	A	G	8: 107,897,045 (GRCm39)	D105G	probably benign	Het
Ddx20	A	C	3: 105,590,521 (GRCm39)	Y258*	probably null	Het
Farp2	C	T	1: 93,507,625 (GRCm39)	T441I	probably benign	Het
Fzd6	G	T	15: 38,894,931 (GRCm39)	A366S	probably damaging	Het
Gpr149	A	G	3: 62,511,474 (GRCm39)	V175A	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Itga4	T	A	2: 79,131,357 (GRCm39)	I575N	probably damaging	Het
Kcnj14	C	T	7: 45,469,325 (GRCm39)	R60H	probably benign	Het
Lrch3	A	G	16: 32,816,211 (GRCm39)	T151A	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mterf2	T	C	10: 84,956,180 (GRCm39)	N148S	possibly damaging	Het
Nae1	A	C	8: 105,246,420 (GRCm39)	D268E	probably benign	Het
Or5p5	T	C	7: 107,414,040 (GRCm39)	V83A	possibly damaging	Het
Or6c211	G	A	10: 129,505,764 (GRCm39)	T208I	probably damaging	Het
Or8b48	A	G	9: 38,493,101 (GRCm39)	H176R	probably damaging	Het
Prune2	T	A	19: 17,100,456 (GRCm39)	Y1987N	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,631,737 (GRCm39)	L2096P	probably damaging	Het
Serpina3m	G	A	12: 104,355,708 (GRCm39)	S125N	probably benign	Het
Tep1	G	C	14: 51,091,667 (GRCm39)	R625G	probably benign	Het
Vmn2r102	T	C	17: 19,897,003 (GRCm39)	Y117H	probably benign	Het
Wdfy4	A	T	14: 32,795,468 (GRCm39)	N2091K	possibly damaging	Het
Yme1l1	C	T	2: 23,086,912 (GRCm39)	R673*	probably null	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
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
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'- TCAGTCCAAAGATCTACCTTGTAC -3'
(R):5'- CAAGCCATCACTGTATGGACATAC -3'

Sequencing Primer
(F):5'- CCTTGTACAAAGTTACCTATTCCAGG -3'
(R):5'- ACGTGACTTCTCTTCCGA -3'

Posted On

2014-10-15