Mutagenetix > Incidental Mutation

Incidental Mutation 'R2407:Pdzd2'

248073

Institutional Source

Beutler Lab

Gene Symbol

Pdzd2

Ensembl Gene

ENSMUSG00000022197

Gene Name

PDZ domain containing 2

Synonyms

Pdzk3, A930022H17Rik, 4930537L06Rik, Gm21706, LOC223364

MMRRC Submission

040373-MU

Accession Numbers

Essential gene?

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

Stock #

R2407 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12359711-12739924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12373161 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2296 (D2296G)

Ref Sequence

ENSEMBL: ENSMUSP00000074788 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000075317
AA Change: D2296G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074788
Gene: ENSMUSG00000022197
AA Change: D2296G

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.7%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	A	T	6: 65,953,228 (GRCm38)	N149I	probably benign	Het
4931408C20Rik	A	T	1: 26,682,838 (GRCm38)	M1087K	possibly damaging	Het
Agxt	G	T	1: 93,135,780 (GRCm38)	A135S	probably benign	Het
Aldh1a2	A	T	9: 71,252,598 (GRCm38)	I40F	probably damaging	Het
Ang	T	A	14: 51,101,646 (GRCm38)	C81*	probably null	Het
Apc	G	T	18: 34,314,262 (GRCm38)	V1370F	possibly damaging	Het
Arfgef3	T	C	10: 18,677,866 (GRCm38)	T127A	possibly damaging	Het
Cd1d1	A	G	3: 86,998,182 (GRCm38)	L168P	probably damaging	Het
Epb42	C	A	2: 121,024,752 (GRCm38)	V451F	probably damaging	Het
F5	T	A	1: 164,211,872 (GRCm38)	L2017Q	probably damaging	Het
Hmcn2	A	T	2: 31,335,412 (GRCm38)		probably null	Het
Kif13a	G	A	13: 46,777,097 (GRCm38)	P164S	probably damaging	Het
Kirrel	T	A	3: 87,084,843 (GRCm38)	I593F	probably benign	Het
Lin28b	A	T	10: 45,381,087 (GRCm38)	I265N	possibly damaging	Het
Mctp2	A	T	7: 72,200,407 (GRCm38)	D507E	probably benign	Het
Morc3	G	A	16: 93,844,327 (GRCm38)		probably null	Het
Myo3b	T	C	2: 70,255,253 (GRCm38)	Y750H	probably damaging	Het
Nrp1	T	C	8: 128,431,945 (GRCm38)	S238P	probably damaging	Het
Nsf	C	T	11: 103,930,752 (GRCm38)	E26K	possibly damaging	Het
Otog	A	G	7: 46,241,540 (GRCm38)	E41G	probably benign	Het
Pclo	G	T	5: 14,678,932 (GRCm38)		probably benign	Het
Peak1	A	G	9: 56,259,226 (GRCm38)	C473R	probably damaging	Het
Rad51ap2	T	A	12: 11,458,501 (GRCm38)	M808K	probably damaging	Het
Sec24b	A	C	3: 130,002,316 (GRCm38)	S651A	probably benign	Het
Slc17a3	G	A	13: 23,852,435 (GRCm38)		probably null	Het
Slc4a10	A	G	2: 62,313,343 (GRCm38)	H1074R	probably benign	Het
Spata31d1b	A	G	13: 59,716,846 (GRCm38)	K603E	possibly damaging	Het
Sptbn4	T	A	7: 27,418,098 (GRCm38)	K409*	probably null	Het
Tacc2	G	A	7: 130,622,040 (GRCm38)	V152I	possibly damaging	Het
Tiam2	A	G	17: 3,477,261 (GRCm38)	M65V	probably benign	Het
Tmem131l	G	T	3: 83,922,048 (GRCm38)	Q1100K	probably benign	Het
Togaram1	T	C	12: 64,967,670 (GRCm38)	M565T	probably damaging	Het
Trib1	T	C	15: 59,654,600 (GRCm38)	Y340H	probably benign	Het
Wdr66	A	T	5: 123,289,969 (GRCm38)	M510L	probably benign	Het
Wdr7	A	T	18: 63,760,723 (GRCm38)	M643L	probably benign	Het
Zfp51	A	T	17: 21,463,831 (GRCm38)	H236L	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
IGL01505:Pdzd2	APN	15	12,458,207 (GRCm38)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACGGGGACTTTGTCATCTGC -3'
(R):5'- AACCTCTACTGGAAACACTTAGG -3'

Sequencing Primer
(F):5'- ACTTTGTCATCTGCGGGAGAAG -3'
(R):5'- TCTACTGGAAACACTTAGGAACCC -3'

Posted On

2014-11-11