Mutagenetix > Incidental Mutation

Incidental Mutation 'R1251:Pcnx3'

151782

Institutional Source

Beutler Lab

Gene Symbol

Pcnx3

Ensembl Gene

ENSMUSG00000054874

Gene Name

pecanex homolog 3

Synonyms

Pcnxl3

MMRRC Submission

039318-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1251 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

5714663-5738936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5727210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1108 (F1108L)

Ref Sequence

ENSEMBL: ENSMUSP00000109245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068169] [ENSMUST00000113615] [ENSMUST00000141577]

AlphaFold

Q8VI59

Predicted Effect

probably benign
Transcript: ENSMUST00000068169
AA Change: F700L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000063786
Gene: ENSMUSG00000054874
AA Change: F700L

Domain	Start	End	E-Value	Type
transmembrane domain	36	53	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	370	376	N/A	INTRINSIC
transmembrane domain	385	407	N/A	INTRINSIC
transmembrane domain	411	428	N/A	INTRINSIC
transmembrane domain	441	463	N/A	INTRINSIC
transmembrane domain	473	492	N/A	INTRINSIC
transmembrane domain	501	523	N/A	INTRINSIC
transmembrane domain	538	560	N/A	INTRINSIC
transmembrane domain	573	592	N/A	INTRINSIC
transmembrane domain	645	667	N/A	INTRINSIC
transmembrane domain	669	691	N/A	INTRINSIC
low complexity region	1011	1025	N/A	INTRINSIC
Pfam:Pecanex_C	1159	1389	7.5e-124	PFAM
low complexity region	1462	1479	N/A	INTRINSIC
low complexity region	1481	1510	N/A	INTRINSIC
low complexity region	1525	1538	N/A	INTRINSIC
low complexity region	1558	1569	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113615
AA Change: F1108L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000109245
Gene: ENSMUSG00000054874
AA Change: F1108L

Domain	Start	End	E-Value	Type
transmembrane domain	36	53	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	438	459	N/A	INTRINSIC
low complexity region	778	784	N/A	INTRINSIC
transmembrane domain	793	815	N/A	INTRINSIC
transmembrane domain	819	836	N/A	INTRINSIC
transmembrane domain	849	871	N/A	INTRINSIC
transmembrane domain	881	900	N/A	INTRINSIC
transmembrane domain	909	931	N/A	INTRINSIC
transmembrane domain	946	968	N/A	INTRINSIC
transmembrane domain	981	1000	N/A	INTRINSIC
transmembrane domain	1053	1075	N/A	INTRINSIC
transmembrane domain	1077	1099	N/A	INTRINSIC
low complexity region	1419	1433	N/A	INTRINSIC
Pfam:Pecanex_C	1570	1796	5.9e-116	PFAM
low complexity region	1870	1887	N/A	INTRINSIC
low complexity region	1889	1918	N/A	INTRINSIC
low complexity region	1933	1946	N/A	INTRINSIC
low complexity region	1966	1977	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127876

SMART Domains

Protein: ENSMUSP00000123696
Gene: ENSMUSG00000054874

Domain	Start	End	E-Value	Type
low complexity region	69	75	N/A	INTRINSIC
transmembrane domain	84	106	N/A	INTRINSIC
transmembrane domain	110	127	N/A	INTRINSIC
transmembrane domain	140	162	N/A	INTRINSIC
transmembrane domain	172	191	N/A	INTRINSIC
transmembrane domain	200	222	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137313

SMART Domains

Protein: ENSMUSP00000115217
Gene: ENSMUSG00000054874

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
transmembrane domain	44	66	N/A	INTRINSIC
transmembrane domain	79	98	N/A	INTRINSIC
transmembrane domain	151	173	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141577

SMART Domains

Protein: ENSMUSP00000116451
Gene: ENSMUSG00000054874

Domain	Start	End	E-Value	Type
low complexity region	104	110	N/A	INTRINSIC
transmembrane domain	119	141	N/A	INTRINSIC
transmembrane domain	145	162	N/A	INTRINSIC
transmembrane domain	175	197	N/A	INTRINSIC
transmembrane domain	207	224	N/A	INTRINSIC
transmembrane domain	229	251	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000116493
Gene: ENSMUSG00000054874
AA Change: F528L

Domain	Start	End	E-Value	Type
low complexity region	199	205	N/A	INTRINSIC
transmembrane domain	214	236	N/A	INTRINSIC
transmembrane domain	240	257	N/A	INTRINSIC
transmembrane domain	270	292	N/A	INTRINSIC
transmembrane domain	302	321	N/A	INTRINSIC
transmembrane domain	330	352	N/A	INTRINSIC
transmembrane domain	367	389	N/A	INTRINSIC
transmembrane domain	402	421	N/A	INTRINSIC
transmembrane domain	474	496	N/A	INTRINSIC
transmembrane domain	498	520	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147161

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Acap2	A	T	16: 30,926,989 (GRCm39)	Y509N	probably damaging	Het
Adcy9	T	A	16: 4,129,395 (GRCm39)	E497V	probably damaging	Het
Bcat2	T	G	7: 45,225,410 (GRCm39)	L56R	probably damaging	Het
Ccdc146	T	C	5: 21,498,370 (GRCm39)	M952V	probably benign	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cfap46	C	T	7: 139,181,181 (GRCm39)	V2607I	probably benign	Het
Clec18a	T	C	8: 111,808,270 (GRCm39)	I54V	possibly damaging	Het
Coil	A	G	11: 88,873,125 (GRCm39)	E455G	possibly damaging	Het
Copg1	A	T	6: 87,866,989 (GRCm39)	K75*	probably null	Het
Cyp2j12	G	A	4: 96,003,903 (GRCm39)	Q238*	probably null	Het
Eif3i	T	C	4: 129,487,178 (GRCm39)	E229G	probably damaging	Het
Exoc2	T	A	13: 31,070,259 (GRCm39)	N411Y	probably benign	Het
Eya2	T	A	2: 165,596,404 (GRCm39)	M305K	probably damaging	Het
Faim	C	T	9: 98,874,687 (GRCm39)	T78M	probably damaging	Het
Fgg	T	A	3: 82,920,287 (GRCm39)	D355E	probably benign	Het
Foxn1	A	G	11: 78,249,611 (GRCm39)	L638P	probably damaging	Het
Grid2ip	A	T	5: 143,371,770 (GRCm39)	E664D	possibly damaging	Het
Il1rn	A	G	2: 24,235,582 (GRCm39)	R21G	probably damaging	Het
Ilrun	C	T	17: 28,005,044 (GRCm39)		probably null	Het
Inpp4b	G	A	8: 82,617,382 (GRCm39)	G220R	probably benign	Het
Irx6	A	G	8: 93,404,881 (GRCm39)	S250G	possibly damaging	Het
Lyst	T	C	13: 13,809,068 (GRCm39)	I246T	probably benign	Het
Mcm3	G	A	1: 20,882,896 (GRCm39)	Q353*	probably null	Het
Mfhas1	A	G	8: 36,058,207 (GRCm39)	Y894C	probably damaging	Het
Mfsd13a	T	C	19: 46,360,492 (GRCm39)	L348P	probably damaging	Het
Necab1	A	G	4: 15,111,192 (GRCm39)		probably null	Het
Nectin3	A	T	16: 46,284,205 (GRCm39)	S160T	possibly damaging	Het
Npc2	A	G	12: 84,807,658 (GRCm39)	S67P	probably damaging	Het
Or5e1	T	G	7: 108,354,114 (GRCm39)	F17C	probably damaging	Het
Or5m9b	G	A	2: 85,905,164 (GRCm39)	V27M	probably benign	Het
Phf21a	G	A	2: 92,189,544 (GRCm39)	S601N	probably benign	Het
Pold1	C	T	7: 44,184,475 (GRCm39)	V842I	probably benign	Het
Rabgap1	A	G	2: 37,433,246 (GRCm39)		probably null	Het
Setd1a	T	A	7: 127,396,596 (GRCm39)		probably benign	Het
Sgo2a	A	T	1: 58,039,121 (GRCm39)		probably null	Het
Sult2a8	T	A	7: 14,159,350 (GRCm39)	K90*	probably null	Het
Tlr2	T	C	3: 83,745,576 (GRCm39)	D169G	possibly damaging	Het
Tmem95	A	G	11: 69,767,655 (GRCm39)	F153S	probably benign	Het
Tube1	G	T	10: 39,010,204 (GRCm39)	G10*	probably null	Het
Vmn2r10	T	C	5: 109,143,890 (GRCm39)	M687V	probably benign	Het
Zc3h8	G	A	2: 128,777,289 (GRCm39)	P117S	probably benign	Het
Zeb1	T	A	18: 5,705,089 (GRCm39)	D18E	probably damaging	Het

Other mutations in Pcnx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01616:Pcnx3	APN	19	5,717,287 (GRCm39)	unclassified	probably benign
IGL01667:Pcnx3	APN	19	5,736,658 (GRCm39)	missense	probably benign	0.03
IGL01704:Pcnx3	APN	19	5,717,504 (GRCm39)	missense	probably damaging	1.00
IGL01752:Pcnx3	APN	19	5,715,365 (GRCm39)	nonsense	probably null
IGL01791:Pcnx3	APN	19	5,723,295 (GRCm39)	missense	probably benign	0.39
IGL01937:Pcnx3	APN	19	5,727,691 (GRCm39)	missense	probably benign
IGL01987:Pcnx3	APN	19	5,727,507 (GRCm39)	missense	probably damaging	1.00
IGL02073:Pcnx3	APN	19	5,729,414 (GRCm39)	missense	probably damaging	0.99
IGL02417:Pcnx3	APN	19	5,736,509 (GRCm39)	missense	possibly damaging	0.92
IGL03143:Pcnx3	APN	19	5,735,423 (GRCm39)	missense	probably damaging	1.00
buns	UTSW	19	5,733,368 (GRCm39)	start codon destroyed	probably null
Pastries	UTSW	19	5,733,367 (GRCm39)	nonsense	probably null
pie	UTSW	19	5,717,186 (GRCm39)	missense	possibly damaging	0.81
R7096_pcnx3_526	UTSW	19	5,722,643 (GRCm39)	missense	probably damaging	1.00
swirls	UTSW	19	5,722,543 (GRCm39)	missense	probably damaging	1.00
tip	UTSW	19	5,733,808 (GRCm39)	splice site	probably benign
PIT4453001:Pcnx3	UTSW	19	5,722,784 (GRCm39)	critical splice donor site	probably null
R0234:Pcnx3	UTSW	19	5,722,646 (GRCm39)	missense	probably benign	0.12
R0234:Pcnx3	UTSW	19	5,722,646 (GRCm39)	missense	probably benign	0.12
R0360:Pcnx3	UTSW	19	5,715,611 (GRCm39)	missense	probably damaging	0.98
R0687:Pcnx3	UTSW	19	5,734,361 (GRCm39)	missense	probably damaging	1.00
R0718:Pcnx3	UTSW	19	5,727,756 (GRCm39)	splice site	probably benign
R0840:Pcnx3	UTSW	19	5,735,729 (GRCm39)	splice site	probably null
R0907:Pcnx3	UTSW	19	5,721,553 (GRCm39)	missense	possibly damaging	0.95
R1373:Pcnx3	UTSW	19	5,715,544 (GRCm39)	missense	probably damaging	0.97
R1467:Pcnx3	UTSW	19	5,724,922 (GRCm39)	missense	possibly damaging	0.63
R1467:Pcnx3	UTSW	19	5,724,922 (GRCm39)	missense	possibly damaging	0.63
R1572:Pcnx3	UTSW	19	5,735,375 (GRCm39)	nonsense	probably null
R1602:Pcnx3	UTSW	19	5,722,543 (GRCm39)	missense	probably damaging	1.00
R1628:Pcnx3	UTSW	19	5,736,093 (GRCm39)	missense	probably damaging	0.99
R1635:Pcnx3	UTSW	19	5,715,773 (GRCm39)	missense	probably benign	0.00
R1670:Pcnx3	UTSW	19	5,723,343 (GRCm39)	missense	probably damaging	1.00
R1889:Pcnx3	UTSW	19	5,722,684 (GRCm39)	missense	probably damaging	1.00
R1898:Pcnx3	UTSW	19	5,722,615 (GRCm39)	missense	probably damaging	1.00
R2113:Pcnx3	UTSW	19	5,721,584 (GRCm39)	missense	possibly damaging	0.93
R2147:Pcnx3	UTSW	19	5,717,633 (GRCm39)	missense	probably damaging	1.00
R2358:Pcnx3	UTSW	19	5,733,368 (GRCm39)	start codon destroyed	probably null
R2358:Pcnx3	UTSW	19	5,733,367 (GRCm39)	nonsense	probably null
R2871:Pcnx3	UTSW	19	5,733,774 (GRCm39)	intron	probably benign
R3699:Pcnx3	UTSW	19	5,722,493 (GRCm39)	missense	probably damaging	1.00
R3712:Pcnx3	UTSW	19	5,733,368 (GRCm39)	start codon destroyed	probably null
R3712:Pcnx3	UTSW	19	5,733,367 (GRCm39)	nonsense	probably null
R3798:Pcnx3	UTSW	19	5,728,696 (GRCm39)	nonsense	probably null
R3856:Pcnx3	UTSW	19	5,728,995 (GRCm39)	missense	probably benign	0.02
R3953:Pcnx3	UTSW	19	5,733,808 (GRCm39)	splice site	probably benign
R4613:Pcnx3	UTSW	19	5,717,247 (GRCm39)	missense	possibly damaging	0.51
R4781:Pcnx3	UTSW	19	5,737,158 (GRCm39)	missense	probably damaging	0.99
R4816:Pcnx3	UTSW	19	5,738,023 (GRCm39)	critical splice donor site	probably null
R5338:Pcnx3	UTSW	19	5,722,624 (GRCm39)	missense	probably damaging	1.00
R5770:Pcnx3	UTSW	19	5,731,607 (GRCm39)	intron	probably benign
R5950:Pcnx3	UTSW	19	5,717,186 (GRCm39)	missense	possibly damaging	0.81
R5951:Pcnx3	UTSW	19	5,721,708 (GRCm39)	missense	possibly damaging	0.71
R5969:Pcnx3	UTSW	19	5,735,563 (GRCm39)	missense	probably damaging	1.00
R6543:Pcnx3	UTSW	19	5,715,275 (GRCm39)	missense	probably benign	0.07
R6704:Pcnx3	UTSW	19	5,736,515 (GRCm39)	missense	possibly damaging	0.74
R7096:Pcnx3	UTSW	19	5,722,643 (GRCm39)	missense	probably damaging	1.00
R7177:Pcnx3	UTSW	19	5,737,527 (GRCm39)	missense	probably benign	0.01
R7308:Pcnx3	UTSW	19	5,736,175 (GRCm39)	missense	possibly damaging	0.52
R7387:Pcnx3	UTSW	19	5,723,364 (GRCm39)	missense	probably benign	0.33
R7488:Pcnx3	UTSW	19	5,717,487 (GRCm39)	missense	possibly damaging	0.72
R7670:Pcnx3	UTSW	19	5,727,210 (GRCm39)	missense	probably benign	0.03
R7831:Pcnx3	UTSW	19	5,735,989 (GRCm39)	missense	probably damaging	0.96
R7850:Pcnx3	UTSW	19	5,728,960 (GRCm39)	missense	possibly damaging	0.55
R8120:Pcnx3	UTSW	19	5,717,574 (GRCm39)	missense	probably benign
R8139:Pcnx3	UTSW	19	5,715,773 (GRCm39)	missense	probably benign	0.00
R8258:Pcnx3	UTSW	19	5,715,412 (GRCm39)	missense	probably damaging	1.00
R8259:Pcnx3	UTSW	19	5,715,412 (GRCm39)	missense	probably damaging	1.00
R8260:Pcnx3	UTSW	19	5,715,412 (GRCm39)	missense	probably damaging	1.00
R8261:Pcnx3	UTSW	19	5,715,412 (GRCm39)	missense	probably damaging	1.00
R8262:Pcnx3	UTSW	19	5,715,412 (GRCm39)	missense	probably damaging	1.00
R8350:Pcnx3	UTSW	19	5,723,254 (GRCm39)	missense	probably damaging	1.00
R8411:Pcnx3	UTSW	19	5,729,618 (GRCm39)	missense	possibly damaging	0.90
R8429:Pcnx3	UTSW	19	5,715,412 (GRCm39)	missense	probably damaging	1.00
R8431:Pcnx3	UTSW	19	5,715,412 (GRCm39)	missense	probably damaging	1.00
R8443:Pcnx3	UTSW	19	5,736,670 (GRCm39)	missense	probably benign
R8450:Pcnx3	UTSW	19	5,723,254 (GRCm39)	missense	probably damaging	1.00
R8494:Pcnx3	UTSW	19	5,725,404 (GRCm39)	missense	probably damaging	0.99
R8790:Pcnx3	UTSW	19	5,735,206 (GRCm39)	missense	possibly damaging	0.71
R8939:Pcnx3	UTSW	19	5,730,347 (GRCm39)	missense	probably damaging	0.98
R9065:Pcnx3	UTSW	19	5,717,582 (GRCm39)	missense	possibly damaging	0.86
R9070:Pcnx3	UTSW	19	5,715,601 (GRCm39)	missense	probably benign	0.33
X0028:Pcnx3	UTSW	19	5,734,455 (GRCm39)	missense	probably damaging	1.00
X0053:Pcnx3	UTSW	19	5,736,650 (GRCm39)	splice site	probably null
Z1176:Pcnx3	UTSW	19	5,737,248 (GRCm39)	critical splice acceptor site	probably null
Z1177:Pcnx3	UTSW	19	5,721,654 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TGGAGTCCAGCAGAGACTGCATTG -3'
(R):5'- AGTGCCAGCACCGTCTTCATTG -3'

Sequencing Primer
(F):5'- GACTGCATTGGGCAGGG -3'
(R):5'- CACCTCTTGGTATGGATGAGC -3'

Posted On

2014-01-29