Mutagenetix > Incidental Mutation

Incidental Mutation 'R0575:Pcnx4'

56194

Institutional Source

Beutler Lab

Gene Symbol

Pcnx4

Ensembl Gene

ENSMUSG00000034501

Gene Name

pecanex homolog 4

Synonyms

Pcnxl4, 1810048J11Rik

MMRRC Submission

038765-MU

Accession Numbers

Essential gene?

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

Stock #

R0575 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

72583157-72626893 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72614010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 652 (T652A)

Ref Sequence

ENSEMBL: ENSMUSP00000038916 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044352
AA Change: T652A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000038916
Gene: ENSMUSG00000034501
AA Change: T652A

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

Meta Mutation Damage Score

0.0592

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	C	T	14: 54,828,709 (GRCm39)	S264N	possibly damaging	Het
Acsm1	G	A	7: 119,258,424 (GRCm39)		probably null	Het
Adsl	C	T	15: 80,847,886 (GRCm39)	A93V	probably damaging	Het
Agbl5	A	T	5: 31,051,798 (GRCm39)	S539C	probably damaging	Het
Aggf1	T	A	13: 95,504,905 (GRCm39)	T285S	probably benign	Het
Anapc11	A	G	11: 120,490,192 (GRCm39)	D36G	probably benign	Het
Ankrd44	G	A	1: 54,801,469 (GRCm39)	A286V	probably damaging	Het
Atf7ip2	G	T	16: 10,055,075 (GRCm39)	G281C	probably damaging	Het
Birc6	A	G	17: 74,996,232 (GRCm39)	K4475E	probably damaging	Het
Ccbe1	T	A	18: 66,227,066 (GRCm39)		probably benign	Het
Cyp26b1	A	G	6: 84,552,288 (GRCm39)		probably benign	Het
Dcun1d1	T	C	3: 35,951,934 (GRCm39)		probably benign	Het
Dtwd2	C	A	18: 49,831,539 (GRCm39)	C156F	probably damaging	Het
Efcab6	T	G	15: 83,851,901 (GRCm39)	I326L	probably benign	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
F5	C	A	1: 164,003,813 (GRCm39)	Q203K	probably damaging	Het
Frs3	A	G	17: 48,014,648 (GRCm39)	H447R	possibly damaging	Het
Gmds	T	G	13: 32,124,566 (GRCm39)	Q264P	probably damaging	Het
Golgb1	T	A	16: 36,739,171 (GRCm39)	D2503E	probably benign	Het
Lgi4	G	A	7: 30,759,518 (GRCm39)	G25R	probably benign	Het
Or2y1b	G	A	11: 49,208,880 (GRCm39)	C169Y	probably damaging	Het
Or5b107	T	A	19: 13,142,751 (GRCm39)	Y124*	probably null	Het
Pcdh20	A	G	14: 88,705,048 (GRCm39)	S751P	probably damaging	Het
Pom121l2	T	G	13: 22,168,338 (GRCm39)	F870V	probably damaging	Het
Prob1	T	C	18: 35,787,774 (GRCm39)	D160G	possibly damaging	Het
Spa17	T	C	9: 37,514,689 (GRCm39)	K133E	probably damaging	Het
Strbp	T	A	2: 37,530,885 (GRCm39)	D123V	possibly damaging	Het
Tnxb	A	G	17: 34,936,180 (GRCm39)	T3586A	possibly damaging	Het
Zfp518a	T	A	19: 40,900,759 (GRCm39)	H229Q	probably 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
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
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'- ACGACTTTGTGTGTCCTCAACACTG -3'
(R):5'- CCCTGGCTACACATCAAAGTACTGG -3'

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

Posted On

2013-07-11