Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01505:Pdzd2'

89035

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdzd2

Ensembl Gene

ENSMUSG00000022197

Gene Name

PDZ domain containing 2

Synonyms

Pdzk3, A930022H17Rik, 4930537L06Rik, Gm21706, LOC223364

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

IGL01505

Quality Score

Status

Chromosome

Chromosomal Location

12359711-12739924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12458207 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 190 (N190S)

Ref Sequence

ENSEMBL: ENSMUSP00000074788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075317] [ENSMUST00000186113] [ENSMUST00000189324] [ENSMUST00000190929]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000075317
AA Change: N190S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074788
Gene: ENSMUSG00000022197
AA Change: N190S

Domain	Start	End	E-Value	Type
PDZ	81	179	1.27e-2	SMART
PDZ	342	419	1.51e-18	SMART
PDZ	597	675	5.25e-18	SMART
low complexity region	690	718	N/A	INTRINSIC
PDZ	738	817	1.64e-10	SMART
low complexity region	861	869	N/A	INTRINSIC
low complexity region	969	984	N/A	INTRINSIC
low complexity region	986	1000	N/A	INTRINSIC
low complexity region	1436	1459	N/A	INTRINSIC
low complexity region	1525	1537	N/A	INTRINSIC
low complexity region	1538	1553	N/A	INTRINSIC
low complexity region	1567	1586	N/A	INTRINSIC
low complexity region	2111	2129	N/A	INTRINSIC
low complexity region	2190	2198	N/A	INTRINSIC
low complexity region	2335	2354	N/A	INTRINSIC
low complexity region	2469	2479	N/A	INTRINSIC
PDZ	2589	2666	1.3e-13	SMART
PDZ	2716	2794	9.42e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186113
AA Change: N16S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000189324
AA Change: N16S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189469

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190929
AA Change: N16S

PolyPhen 2 Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140682
Gene: ENSMUSG00000022197
AA Change: N16S

Domain	Start	End	E-Value	Type
PDZ	168	245	3e-20	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit normal response to acute and chronic pain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	T	C	18: 68,947,347		probably null	Het
A2m	A	G	6: 121,676,947	N1413S	possibly damaging	Het
Arhgap45	A	T	10: 80,026,542	N488Y	probably benign	Het
Arid4a	G	A	12: 71,037,115	D94N	probably damaging	Het
Atp7a	A	G	X: 106,109,830	K1114E	probably damaging	Het
Atp8a2	C	T	14: 60,028,063	V275M	probably benign	Het
Ceacam12	T	C	7: 18,067,432	V112A	probably damaging	Het
Cep295	T	A	9: 15,318,049	D2256V	probably benign	Het
Chid1	A	T	7: 141,513,894		probably null	Het
Clcn5	A	T	X: 7,170,439	L268*	probably null	Het
Cldn17	A	G	16: 88,506,703	I46T	possibly damaging	Het
Cnot1	A	T	8: 95,728,718	I2025N	probably damaging	Het
Cntn5	C	T	9: 9,706,087	V574M	probably damaging	Het
Col14a1	T	A	15: 55,455,223	C1373S	unknown	Het
Col9a1	A	G	1: 24,185,124	N129S	unknown	Het
Cp	C	T	3: 19,977,192	P598S	possibly damaging	Het
Cpb1	G	A	3: 20,266,246	R150C	probably damaging	Het
Cyp2j7	T	A	4: 96,227,680		probably null	Het
Dnajb7	T	C	15: 81,407,491	E215G	possibly damaging	Het
Dock1	G	A	7: 135,158,510	R1634Q	possibly damaging	Het
Dopey2	A	G	16: 93,757,116	T313A	possibly damaging	Het
Fgd2	T	A	17: 29,366,997	V185E	probably damaging	Het
Flnb	T	C	14: 7,902,003		probably null	Het
Fzd7	A	G	1: 59,483,903	E315G	probably benign	Het
Gjc1	T	A	11: 102,800,726	K150N	probably benign	Het
Gm436	C	T	4: 144,674,618	V99M	probably damaging	Het
Gpihbp1	C	T	15: 75,598,128		probably benign	Het
Gpr160	T	C	3: 30,895,853	S25P	possibly damaging	Het
Grsf1	G	A	5: 88,672,749	R58*	probably null	Het
Ifit1	T	A	19: 34,648,454	M330K	probably benign	Het
Igkv1-122	T	C	6: 68,017,194	V22A	probably benign	Het
Ikbke	A	T	1: 131,255,311	D692E	probably benign	Het
Il15ra	T	C	2: 11,733,145		probably benign	Het
Il18rap	A	G	1: 40,537,084	I252V	probably damaging	Het
Klra10	C	T	6: 130,272,717	G202R	probably damaging	Het
Kpna7	A	G	5: 144,992,851	V388A	probably damaging	Het
L2hgdh	A	G	12: 69,721,401	S108P	probably damaging	Het
Msto1	G	A	3: 88,910,743	T388M	probably benign	Het
Naip1	T	C	13: 100,425,933	E908G	probably damaging	Het
Neto1	C	A	18: 86,473,689	D238E	possibly damaging	Het
Nlrp5	T	A	7: 23,417,734	D294E	probably benign	Het
Nr3c2	T	C	8: 76,909,187	S306P	probably damaging	Het
Olfr890	T	A	9: 38,143,871	C240*	probably null	Het
Pard3	T	A	8: 127,324,063	L202H	probably damaging	Het
Pi4ka	T	C	16: 17,309,358	D1077G	probably benign	Het
Pmfbp1	A	C	8: 109,513,911	L208F	probably damaging	Het
Pms1	C	T	1: 53,206,971	D470N	probably benign	Het
Prdm10	T	C	9: 31,327,282	F108L	probably benign	Het
Rab11fip1	A	T	8: 27,154,776	M327K	possibly damaging	Het
Slc37a4	T	A	9: 44,399,964	L184Q	probably damaging	Het
Smdt1	T	C	15: 82,347,893		probably benign	Het
Smg6	A	G	11: 75,156,291	Y1270C	probably damaging	Het
Speer4f2	T	A	5: 17,376,567	V169E	possibly damaging	Het
Stpg2	C	T	3: 139,317,453	A410V	probably benign	Het
Tnrc6b	T	A	15: 80,879,963	D555E	probably benign	Het
Tsg101	A	G	7: 46,909,060	Y46H	probably damaging	Het
Vmn2r111	G	A	17: 22,548,572	S648L	probably benign	Het
Vmn2r73	T	A	7: 85,858,059	R682*	probably null	Het
Xkr5	A	T	8: 18,933,498	I676N	probably damaging	Het

Other mutations in Pdzd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Pdzd2	APN	15	12,457,983 (GRCm38)	missense	possibly damaging	0.93
IGL00586:Pdzd2	APN	15	12,365,767 (GRCm38)	splice site	probably null
IGL00697:Pdzd2	APN	15	12,373,647 (GRCm38)	missense	possibly damaging	0.81
IGL00721:Pdzd2	APN	15	12,374,412 (GRCm38)	missense	probably benign	0.00
IGL00971:Pdzd2	APN	15	12,374,718 (GRCm38)	missense	probably benign	0.00
IGL01066:Pdzd2	APN	15	12,402,632 (GRCm38)	unclassified	probably benign
IGL01389:Pdzd2	APN	15	12,374,626 (GRCm38)	missense	possibly damaging	0.56
IGL01527:Pdzd2	APN	15	12,445,664 (GRCm38)	missense	probably damaging	1.00
IGL01584:Pdzd2	APN	15	12,592,483 (GRCm38)	missense	probably damaging	1.00
IGL01763:Pdzd2	APN	15	12,372,546 (GRCm38)	missense	probably benign
IGL01915:Pdzd2	APN	15	12,371,639 (GRCm38)	missense	probably damaging	1.00
IGL01947:Pdzd2	APN	15	12,592,354 (GRCm38)	missense	probably damaging	1.00
IGL02058:Pdzd2	APN	15	12,376,296 (GRCm38)	missense	possibly damaging	0.87
IGL02274:Pdzd2	APN	15	12,445,649 (GRCm38)	missense	probably damaging	1.00
IGL02408:Pdzd2	APN	15	12,375,765 (GRCm38)	missense	probably benign	0.00
IGL02600:Pdzd2	APN	15	12,411,019 (GRCm38)	missense	probably damaging	1.00
IGL02637:Pdzd2	APN	15	12,385,634 (GRCm38)	missense	probably benign	0.13
IGL02639:Pdzd2	APN	15	12,592,243 (GRCm38)	missense	probably damaging	1.00
IGL02712:Pdzd2	APN	15	12,376,027 (GRCm38)	missense	probably benign	0.00
IGL02967:Pdzd2	APN	15	12,374,341 (GRCm38)	missense	probably benign	0.04
IGL02992:Pdzd2	APN	15	12,382,622 (GRCm38)	missense	possibly damaging	0.77
IGL03005:Pdzd2	APN	15	12,385,265 (GRCm38)	missense	probably damaging	1.00
IGL03067:Pdzd2	APN	15	12,388,542 (GRCm38)	critical splice donor site	probably null
IGL03335:Pdzd2	APN	15	12,373,764 (GRCm38)	missense	probably benign	0.00
PIT4280001:Pdzd2	UTSW	15	12,399,288 (GRCm38)	missense	probably damaging	1.00
R0022:Pdzd2	UTSW	15	12,371,605 (GRCm38)	missense	possibly damaging	0.94
R0241:Pdzd2	UTSW	15	12,367,941 (GRCm38)	missense	probably damaging	1.00
R0241:Pdzd2	UTSW	15	12,367,941 (GRCm38)	missense	probably damaging	1.00
R0446:Pdzd2	UTSW	15	12,375,024 (GRCm38)	missense	probably benign	0.43
R0462:Pdzd2	UTSW	15	12,592,160 (GRCm38)	missense	probably damaging	1.00
R0562:Pdzd2	UTSW	15	12,592,278 (GRCm38)	missense	probably damaging	1.00
R0589:Pdzd2	UTSW	15	12,376,299 (GRCm38)	missense	probably benign	0.03
R0639:Pdzd2	UTSW	15	12,458,058 (GRCm38)	missense	possibly damaging	0.77
R0925:Pdzd2	UTSW	15	12,399,270 (GRCm38)	missense	probably damaging	1.00
R1015:Pdzd2	UTSW	15	12,374,508 (GRCm38)	missense	probably damaging	1.00
R1054:Pdzd2	UTSW	15	12,371,639 (GRCm38)	missense	probably damaging	1.00
R1070:Pdzd2	UTSW	15	12,389,966 (GRCm38)	critical splice donor site	probably null
R1099:Pdzd2	UTSW	15	12,373,087 (GRCm38)	missense	probably damaging	1.00
R1122:Pdzd2	UTSW	15	12,457,895 (GRCm38)	missense	probably benign	0.25
R1126:Pdzd2	UTSW	15	12,458,220 (GRCm38)	missense	possibly damaging	0.94
R1381:Pdzd2	UTSW	15	12,385,439 (GRCm38)	missense	probably benign	0.02
R1385:Pdzd2	UTSW	15	12,411,022 (GRCm38)	missense	probably benign	0.38
R1513:Pdzd2	UTSW	15	12,373,829 (GRCm38)	missense	possibly damaging	0.88
R1538:Pdzd2	UTSW	15	12,372,961 (GRCm38)	missense	probably damaging	1.00
R1750:Pdzd2	UTSW	15	12,385,864 (GRCm38)	missense	probably damaging	1.00
R1775:Pdzd2	UTSW	15	12,592,460 (GRCm38)	missense	probably damaging	1.00
R1801:Pdzd2	UTSW	15	12,387,654 (GRCm38)	missense	possibly damaging	0.56
R1832:Pdzd2	UTSW	15	12,390,048 (GRCm38)	missense	probably damaging	1.00
R1856:Pdzd2	UTSW	15	12,373,855 (GRCm38)	missense	possibly damaging	0.87
R1870:Pdzd2	UTSW	15	12,457,886 (GRCm38)	missense	probably damaging	1.00
R1879:Pdzd2	UTSW	15	12,373,900 (GRCm38)	missense	possibly damaging	0.61
R2072:Pdzd2	UTSW	15	12,385,819 (GRCm38)	missense	probably damaging	1.00
R2073:Pdzd2	UTSW	15	12,385,819 (GRCm38)	missense	probably damaging	1.00
R2075:Pdzd2	UTSW	15	12,385,819 (GRCm38)	missense	probably damaging	1.00
R2125:Pdzd2	UTSW	15	12,373,590 (GRCm38)	missense	probably benign	0.37
R2142:Pdzd2	UTSW	15	12,406,559 (GRCm38)	missense	probably damaging	1.00
R2155:Pdzd2	UTSW	15	12,375,793 (GRCm38)	missense	probably benign	0.43
R2282:Pdzd2	UTSW	15	12,373,848 (GRCm38)	missense	possibly damaging	0.95
R2407:Pdzd2	UTSW	15	12,373,161 (GRCm38)	missense	probably damaging	1.00
R3545:Pdzd2	UTSW	15	12,375,471 (GRCm38)	missense	probably benign	0.00
R3878:Pdzd2	UTSW	15	12,376,176 (GRCm38)	missense	probably benign	0.00
R3879:Pdzd2	UTSW	15	12,375,508 (GRCm38)	missense	probably damaging	1.00
R4396:Pdzd2	UTSW	15	12,387,646 (GRCm38)	missense	probably benign	0.36
R4398:Pdzd2	UTSW	15	12,375,975 (GRCm38)	missense	probably benign	0.30
R4491:Pdzd2	UTSW	15	12,385,637 (GRCm38)	missense	possibly damaging	0.75
R4492:Pdzd2	UTSW	15	12,385,637 (GRCm38)	missense	possibly damaging	0.75
R4492:Pdzd2	UTSW	15	12,419,481 (GRCm38)	missense	possibly damaging	0.48
R4656:Pdzd2	UTSW	15	12,385,711 (GRCm38)	missense	probably benign	0.00
R4715:Pdzd2	UTSW	15	12,419,516 (GRCm38)	missense	possibly damaging	0.72
R4803:Pdzd2	UTSW	15	12,374,595 (GRCm38)	missense	probably benign	0.04
R4893:Pdzd2	UTSW	15	12,385,343 (GRCm38)	missense	probably benign	0.00
R4959:Pdzd2	UTSW	15	12,375,648 (GRCm38)	missense	probably damaging	1.00
R4973:Pdzd2	UTSW	15	12,375,648 (GRCm38)	missense	probably damaging	1.00
R5030:Pdzd2	UTSW	15	12,592,408 (GRCm38)	nonsense	probably null
R5174:Pdzd2	UTSW	15	12,372,514 (GRCm38)	missense	probably benign	0.01
R5230:Pdzd2	UTSW	15	12,390,033 (GRCm38)	missense	probably damaging	1.00
R5256:Pdzd2	UTSW	15	12,372,942 (GRCm38)	missense	possibly damaging	0.87
R5268:Pdzd2	UTSW	15	12,592,177 (GRCm38)	missense	probably damaging	1.00
R5488:Pdzd2	UTSW	15	12,382,676 (GRCm38)	missense	probably benign	0.00
R5489:Pdzd2	UTSW	15	12,382,676 (GRCm38)	missense	probably benign	0.00
R5588:Pdzd2	UTSW	15	12,374,281 (GRCm38)	missense	possibly damaging	0.48
R5605:Pdzd2	UTSW	15	12,592,350 (GRCm38)	nonsense	probably null
R5704:Pdzd2	UTSW	15	12,385,675 (GRCm38)	missense	probably benign	0.02
R5858:Pdzd2	UTSW	15	12,442,589 (GRCm38)	missense	probably damaging	0.97
R6048:Pdzd2	UTSW	15	12,592,570 (GRCm38)	splice site	probably null
R6222:Pdzd2	UTSW	15	12,374,566 (GRCm38)	missense	probably damaging	1.00
R6311:Pdzd2	UTSW	15	12,458,188 (GRCm38)	missense	probably damaging	1.00
R6734:Pdzd2	UTSW	15	12,592,465 (GRCm38)	missense	probably damaging	1.00
R6897:Pdzd2	UTSW	15	12,385,865 (GRCm38)	missense	probably damaging	1.00
R6900:Pdzd2	UTSW	15	12,374,037 (GRCm38)	missense	probably benign
R6955:Pdzd2	UTSW	15	12,401,464 (GRCm38)	missense	probably damaging	1.00
R6959:Pdzd2	UTSW	15	12,375,907 (GRCm38)	missense	probably benign	0.17
R6992:Pdzd2	UTSW	15	12,457,859 (GRCm38)	missense	probably damaging	1.00
R7014:Pdzd2	UTSW	15	12,372,975 (GRCm38)	missense	probably benign	0.14
R7014:Pdzd2	UTSW	15	12,372,561 (GRCm38)	missense	probably benign	0.13
R7110:Pdzd2	UTSW	15	12,368,013 (GRCm38)	missense	probably damaging	1.00
R7180:Pdzd2	UTSW	15	12,376,123 (GRCm38)	missense	probably damaging	0.99
R7228:Pdzd2	UTSW	15	12,458,145 (GRCm38)	nonsense	probably null
R7228:Pdzd2	UTSW	15	12,372,973 (GRCm38)	missense	probably benign	0.01
R7317:Pdzd2	UTSW	15	12,592,243 (GRCm38)	missense	probably damaging	1.00
R7322:Pdzd2	UTSW	15	12,437,162 (GRCm38)	missense	probably damaging	1.00
R7349:Pdzd2	UTSW	15	12,399,205 (GRCm38)	missense	probably damaging	1.00
R7600:Pdzd2	UTSW	15	12,372,734 (GRCm38)	missense	probably damaging	1.00
R7663:Pdzd2	UTSW	15	12,373,203 (GRCm38)	missense	probably damaging	1.00
R7712:Pdzd2	UTSW	15	12,407,336 (GRCm38)	missense	probably damaging	1.00
R7716:Pdzd2	UTSW	15	12,373,374 (GRCm38)	missense	possibly damaging	0.63
R7740:Pdzd2	UTSW	15	12,374,016 (GRCm38)	missense	probably benign	0.00
R7748:Pdzd2	UTSW	15	12,385,786 (GRCm38)	missense	possibly damaging	0.60
R8017:Pdzd2	UTSW	15	12,373,036 (GRCm38)	missense	probably damaging	1.00
R8019:Pdzd2	UTSW	15	12,373,036 (GRCm38)	missense	probably damaging	1.00
R8108:Pdzd2	UTSW	15	12,373,506 (GRCm38)	missense	probably benign	0.01
R8109:Pdzd2	UTSW	15	12,373,506 (GRCm38)	missense	probably benign	0.01
R8110:Pdzd2	UTSW	15	12,373,506 (GRCm38)	missense	probably benign	0.01
R8111:Pdzd2	UTSW	15	12,373,506 (GRCm38)	missense	probably benign	0.01
R8145:Pdzd2	UTSW	15	12,407,372 (GRCm38)	missense	probably benign	0.37
R8220:Pdzd2	UTSW	15	12,592,163 (GRCm38)	missense	probably damaging	0.99
R8278:Pdzd2	UTSW	15	12,375,909 (GRCm38)	missense	probably benign
R8768:Pdzd2	UTSW	15	12,437,166 (GRCm38)	missense	probably damaging	1.00
R8879:Pdzd2	UTSW	15	12,402,319 (GRCm38)	missense	probably damaging	1.00
R9019:Pdzd2	UTSW	15	12,375,526 (GRCm38)	missense	probably damaging	1.00
R9030:Pdzd2	UTSW	15	12,374,299 (GRCm38)	missense	probably benign	0.02
R9061:Pdzd2	UTSW	15	12,374,667 (GRCm38)	missense	possibly damaging	0.94
R9302:Pdzd2	UTSW	15	12,374,256 (GRCm38)	missense	possibly damaging	0.61
R9321:Pdzd2	UTSW	15	12,385,937 (GRCm38)	missense	probably benign	0.00
R9421:Pdzd2	UTSW	15	12,375,028 (GRCm38)	missense
R9515:Pdzd2	UTSW	15	12,374,535 (GRCm38)	missense	probably damaging	1.00
R9592:Pdzd2	UTSW	15	12,458,020 (GRCm38)	missense	probably damaging	1.00
R9614:Pdzd2	UTSW	15	12,375,400 (GRCm38)	missense	probably damaging	1.00
R9630:Pdzd2	UTSW	15	12,374,357 (GRCm38)	missense	probably benign	0.37
R9776:Pdzd2	UTSW	15	12,457,823 (GRCm38)	missense	probably benign	0.03
X0057:Pdzd2	UTSW	15	12,411,027 (GRCm38)	missense	probably damaging	1.00
X0063:Pdzd2	UTSW	15	12,368,719 (GRCm38)	missense	possibly damaging	0.77
X0066:Pdzd2	UTSW	15	12,372,856 (GRCm38)	missense	probably benign	0.00

Posted On

2013-12-03