Mutagenetix > Incidental Mutation

Incidental Mutation 'R3878:Pdzd2'

276961

Institutional Source

Beutler Lab

Gene Symbol

Pdzd2

Ensembl Gene

ENSMUSG00000022197

Gene Name

PDZ domain containing 2

Synonyms

Gm21706, A930022H17Rik, Pdzk3, 4930537L06Rik, LOC223364

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R3878 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12359797-12740010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12376262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1291 (E1291G)

Ref Sequence

ENSEMBL: ENSMUSP00000074788 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000075317
AA Change: E1291G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000074788
Gene: ENSMUSG00000022197
AA Change: E1291G

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	C	T	2: 130,247,560 (GRCm39)	T32M	probably benign	Het
A2ml1	T	C	6: 128,531,324 (GRCm39)	S915G	probably benign	Het
Ablim1	T	C	19: 57,025,642 (GRCm39)		probably null	Het
Atosb	T	G	4: 43,035,867 (GRCm39)	H288P	probably damaging	Het
Cadm2	C	T	16: 66,612,329 (GRCm39)	E78K	probably damaging	Het
Ceacam5	C	T	7: 17,484,506 (GRCm39)	P416L	probably damaging	Het
Chsy3	T	C	18: 59,542,845 (GRCm39)	F661S	probably damaging	Het
Clstn3	G	A	6: 124,434,901 (GRCm39)	T338I	probably damaging	Het
Ctif	A	G	18: 75,653,048 (GRCm39)	I403T	probably damaging	Het
Dnaaf9	T	C	2: 130,620,423 (GRCm39)	R237G	possibly damaging	Het
Eprs1	T	A	1: 185,148,150 (GRCm39)		probably null	Het
Frs2	A	C	10: 116,914,815 (GRCm39)	S35A	probably benign	Het
Gpr155	C	T	2: 73,198,736 (GRCm39)	W394*	probably null	Het
Ift140	G	A	17: 25,247,918 (GRCm39)	V259M	probably benign	Het
Igkv9-124	A	T	6: 67,919,191 (GRCm39)	S74T	probably benign	Het
Krt14	C	T	11: 100,097,915 (GRCm39)	V123M	possibly damaging	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Nebl	T	C	2: 17,398,063 (GRCm39)	T457A	possibly damaging	Het
Nlrp4g	A	G	9: 124,349,362 (GRCm38)		noncoding transcript	Het
Nsa2	C	G	13: 97,268,542 (GRCm39)	G175A	probably benign	Het
Or8k40	T	C	2: 86,584,972 (GRCm39)	T37A	probably benign	Het
Pax1	A	T	2: 147,204,228 (GRCm39)		probably benign	Het
Relb	G	A	7: 19,351,769 (GRCm39)	H115Y	probably damaging	Het
Rnase10	A	G	14: 51,246,889 (GRCm39)	E52G	probably damaging	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Slc14a2	C	T	18: 78,202,289 (GRCm39)	V614I	probably benign	Het
Slc20a2	T	C	8: 23,058,399 (GRCm39)	L645P	possibly damaging	Het
Smoc2	A	G	17: 14,545,879 (GRCm39)	D56G	probably damaging	Het
Szt2	A	G	4: 118,247,782 (GRCm39)	S789P	probably damaging	Het
Tenm2	A	G	11: 36,030,401 (GRCm39)		probably null	Het
Tm9sf3	A	G	19: 41,235,152 (GRCm39)	V169A	probably damaging	Het
Trbv13-1	C	T	6: 41,093,322 (GRCm39)	T86I	probably benign	Het
Trim24	A	G	6: 37,941,708 (GRCm39)	D886G	probably benign	Het
Trim33	A	G	3: 103,259,321 (GRCm39)	I1003M	probably damaging	Het
Trim37	T	C	11: 87,096,828 (GRCm39)	V777A	probably benign	Het
Ttc7	A	C	17: 87,678,166 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,596,364 (GRCm39)	D11856G	possibly damaging	Het
Vmn1r226	A	T	17: 20,908,260 (GRCm39)	D164V	possibly damaging	Het
Vmn1r34	G	A	6: 66,614,552 (GRCm39)	T62I	possibly damaging	Het
Wapl	T	C	14: 34,414,104 (GRCm39)	L322P	probably damaging	Het
Zfp62	A	G	11: 49,105,960 (GRCm39)	D17G	probably damaging	Het

Other mutations in Pdzd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Pdzd2	APN	15	12,458,069 (GRCm39)	missense	possibly damaging	0.93
IGL00586:Pdzd2	APN	15	12,365,853 (GRCm39)	splice site	probably null
IGL00697:Pdzd2	APN	15	12,373,733 (GRCm39)	missense	possibly damaging	0.81
IGL00721:Pdzd2	APN	15	12,374,498 (GRCm39)	missense	probably benign	0.00
IGL00971:Pdzd2	APN	15	12,374,804 (GRCm39)	missense	probably benign	0.00
IGL01066:Pdzd2	APN	15	12,402,718 (GRCm39)	unclassified	probably benign
IGL01389:Pdzd2	APN	15	12,374,712 (GRCm39)	missense	possibly damaging	0.56
IGL01505:Pdzd2	APN	15	12,458,293 (GRCm39)	missense	probably damaging	1.00
IGL01527:Pdzd2	APN	15	12,445,750 (GRCm39)	missense	probably damaging	1.00
IGL01584:Pdzd2	APN	15	12,592,569 (GRCm39)	missense	probably damaging	1.00
IGL01763:Pdzd2	APN	15	12,372,632 (GRCm39)	missense	probably benign
IGL01915:Pdzd2	APN	15	12,371,725 (GRCm39)	missense	probably damaging	1.00
IGL01947:Pdzd2	APN	15	12,592,440 (GRCm39)	missense	probably damaging	1.00
IGL02058:Pdzd2	APN	15	12,376,382 (GRCm39)	missense	possibly damaging	0.87
IGL02274:Pdzd2	APN	15	12,445,735 (GRCm39)	missense	probably damaging	1.00
IGL02408:Pdzd2	APN	15	12,375,851 (GRCm39)	missense	probably benign	0.00
IGL02600:Pdzd2	APN	15	12,411,105 (GRCm39)	missense	probably damaging	1.00
IGL02637:Pdzd2	APN	15	12,385,720 (GRCm39)	missense	probably benign	0.13
IGL02639:Pdzd2	APN	15	12,592,329 (GRCm39)	missense	probably damaging	1.00
IGL02712:Pdzd2	APN	15	12,376,113 (GRCm39)	missense	probably benign	0.00
IGL02967:Pdzd2	APN	15	12,374,427 (GRCm39)	missense	probably benign	0.04
IGL02992:Pdzd2	APN	15	12,382,708 (GRCm39)	missense	possibly damaging	0.77
IGL03005:Pdzd2	APN	15	12,385,351 (GRCm39)	missense	probably damaging	1.00
IGL03067:Pdzd2	APN	15	12,388,628 (GRCm39)	critical splice donor site	probably null
IGL03335:Pdzd2	APN	15	12,373,850 (GRCm39)	missense	probably benign	0.00
PIT4280001:Pdzd2	UTSW	15	12,399,374 (GRCm39)	missense	probably damaging	1.00
R0022:Pdzd2	UTSW	15	12,371,691 (GRCm39)	missense	possibly damaging	0.94
R0241:Pdzd2	UTSW	15	12,368,027 (GRCm39)	missense	probably damaging	1.00
R0241:Pdzd2	UTSW	15	12,368,027 (GRCm39)	missense	probably damaging	1.00
R0446:Pdzd2	UTSW	15	12,375,110 (GRCm39)	missense	probably benign	0.43
R0462:Pdzd2	UTSW	15	12,592,246 (GRCm39)	missense	probably damaging	1.00
R0562:Pdzd2	UTSW	15	12,592,364 (GRCm39)	missense	probably damaging	1.00
R0589:Pdzd2	UTSW	15	12,376,385 (GRCm39)	missense	probably benign	0.03
R0639:Pdzd2	UTSW	15	12,458,144 (GRCm39)	missense	possibly damaging	0.77
R0925:Pdzd2	UTSW	15	12,399,356 (GRCm39)	missense	probably damaging	1.00
R1015:Pdzd2	UTSW	15	12,374,594 (GRCm39)	missense	probably damaging	1.00
R1054:Pdzd2	UTSW	15	12,371,725 (GRCm39)	missense	probably damaging	1.00
R1070:Pdzd2	UTSW	15	12,390,052 (GRCm39)	critical splice donor site	probably null
R1099:Pdzd2	UTSW	15	12,373,173 (GRCm39)	missense	probably damaging	1.00
R1122:Pdzd2	UTSW	15	12,457,981 (GRCm39)	missense	probably benign	0.25
R1126:Pdzd2	UTSW	15	12,458,306 (GRCm39)	missense	possibly damaging	0.94
R1381:Pdzd2	UTSW	15	12,385,525 (GRCm39)	missense	probably benign	0.02
R1385:Pdzd2	UTSW	15	12,411,108 (GRCm39)	missense	probably benign	0.38
R1513:Pdzd2	UTSW	15	12,373,915 (GRCm39)	missense	possibly damaging	0.88
R1538:Pdzd2	UTSW	15	12,373,047 (GRCm39)	missense	probably damaging	1.00
R1750:Pdzd2	UTSW	15	12,385,950 (GRCm39)	missense	probably damaging	1.00
R1775:Pdzd2	UTSW	15	12,592,546 (GRCm39)	missense	probably damaging	1.00
R1801:Pdzd2	UTSW	15	12,387,740 (GRCm39)	missense	possibly damaging	0.56
R1832:Pdzd2	UTSW	15	12,390,134 (GRCm39)	missense	probably damaging	1.00
R1856:Pdzd2	UTSW	15	12,373,941 (GRCm39)	missense	possibly damaging	0.87
R1870:Pdzd2	UTSW	15	12,457,972 (GRCm39)	missense	probably damaging	1.00
R1879:Pdzd2	UTSW	15	12,373,986 (GRCm39)	missense	possibly damaging	0.61
R2072:Pdzd2	UTSW	15	12,385,905 (GRCm39)	missense	probably damaging	1.00
R2073:Pdzd2	UTSW	15	12,385,905 (GRCm39)	missense	probably damaging	1.00
R2075:Pdzd2	UTSW	15	12,385,905 (GRCm39)	missense	probably damaging	1.00
R2125:Pdzd2	UTSW	15	12,373,676 (GRCm39)	missense	probably benign	0.37
R2142:Pdzd2	UTSW	15	12,406,645 (GRCm39)	missense	probably damaging	1.00
R2155:Pdzd2	UTSW	15	12,375,879 (GRCm39)	missense	probably benign	0.43
R2282:Pdzd2	UTSW	15	12,373,934 (GRCm39)	missense	possibly damaging	0.95
R2407:Pdzd2	UTSW	15	12,373,247 (GRCm39)	missense	probably damaging	1.00
R3545:Pdzd2	UTSW	15	12,375,557 (GRCm39)	missense	probably benign	0.00
R3879:Pdzd2	UTSW	15	12,375,594 (GRCm39)	missense	probably damaging	1.00
R4396:Pdzd2	UTSW	15	12,387,732 (GRCm39)	missense	probably benign	0.36
R4398:Pdzd2	UTSW	15	12,376,061 (GRCm39)	missense	probably benign	0.30
R4491:Pdzd2	UTSW	15	12,385,723 (GRCm39)	missense	possibly damaging	0.75
R4492:Pdzd2	UTSW	15	12,385,723 (GRCm39)	missense	possibly damaging	0.75
R4492:Pdzd2	UTSW	15	12,419,567 (GRCm39)	missense	possibly damaging	0.48
R4656:Pdzd2	UTSW	15	12,385,797 (GRCm39)	missense	probably benign	0.00
R4715:Pdzd2	UTSW	15	12,419,602 (GRCm39)	missense	possibly damaging	0.72
R4803:Pdzd2	UTSW	15	12,374,681 (GRCm39)	missense	probably benign	0.04
R4893:Pdzd2	UTSW	15	12,385,429 (GRCm39)	missense	probably benign	0.00
R4959:Pdzd2	UTSW	15	12,375,734 (GRCm39)	missense	probably damaging	1.00
R4973:Pdzd2	UTSW	15	12,375,734 (GRCm39)	missense	probably damaging	1.00
R5030:Pdzd2	UTSW	15	12,592,494 (GRCm39)	nonsense	probably null
R5174:Pdzd2	UTSW	15	12,372,600 (GRCm39)	missense	probably benign	0.01
R5230:Pdzd2	UTSW	15	12,390,119 (GRCm39)	missense	probably damaging	1.00
R5256:Pdzd2	UTSW	15	12,373,028 (GRCm39)	missense	possibly damaging	0.87
R5268:Pdzd2	UTSW	15	12,592,263 (GRCm39)	missense	probably damaging	1.00
R5488:Pdzd2	UTSW	15	12,382,762 (GRCm39)	missense	probably benign	0.00
R5489:Pdzd2	UTSW	15	12,382,762 (GRCm39)	missense	probably benign	0.00
R5588:Pdzd2	UTSW	15	12,374,367 (GRCm39)	missense	possibly damaging	0.48
R5605:Pdzd2	UTSW	15	12,592,436 (GRCm39)	nonsense	probably null
R5704:Pdzd2	UTSW	15	12,385,761 (GRCm39)	missense	probably benign	0.02
R5858:Pdzd2	UTSW	15	12,442,675 (GRCm39)	missense	probably damaging	0.97
R6048:Pdzd2	UTSW	15	12,592,656 (GRCm39)	splice site	probably null
R6222:Pdzd2	UTSW	15	12,374,652 (GRCm39)	missense	probably damaging	1.00
R6311:Pdzd2	UTSW	15	12,458,274 (GRCm39)	missense	probably damaging	1.00
R6734:Pdzd2	UTSW	15	12,592,551 (GRCm39)	missense	probably damaging	1.00
R6897:Pdzd2	UTSW	15	12,385,951 (GRCm39)	missense	probably damaging	1.00
R6900:Pdzd2	UTSW	15	12,374,123 (GRCm39)	missense	probably benign
R6955:Pdzd2	UTSW	15	12,401,550 (GRCm39)	missense	probably damaging	1.00
R6959:Pdzd2	UTSW	15	12,375,993 (GRCm39)	missense	probably benign	0.17
R6992:Pdzd2	UTSW	15	12,457,945 (GRCm39)	missense	probably damaging	1.00
R7014:Pdzd2	UTSW	15	12,373,061 (GRCm39)	missense	probably benign	0.14
R7014:Pdzd2	UTSW	15	12,372,647 (GRCm39)	missense	probably benign	0.13
R7110:Pdzd2	UTSW	15	12,368,099 (GRCm39)	missense	probably damaging	1.00
R7180:Pdzd2	UTSW	15	12,376,209 (GRCm39)	missense	probably damaging	0.99
R7228:Pdzd2	UTSW	15	12,458,231 (GRCm39)	nonsense	probably null
R7228:Pdzd2	UTSW	15	12,373,059 (GRCm39)	missense	probably benign	0.01
R7317:Pdzd2	UTSW	15	12,592,329 (GRCm39)	missense	probably damaging	1.00
R7322:Pdzd2	UTSW	15	12,437,248 (GRCm39)	missense	probably damaging	1.00
R7349:Pdzd2	UTSW	15	12,399,291 (GRCm39)	missense	probably damaging	1.00
R7600:Pdzd2	UTSW	15	12,372,820 (GRCm39)	missense	probably damaging	1.00
R7663:Pdzd2	UTSW	15	12,373,289 (GRCm39)	missense	probably damaging	1.00
R7712:Pdzd2	UTSW	15	12,407,422 (GRCm39)	missense	probably damaging	1.00
R7716:Pdzd2	UTSW	15	12,373,460 (GRCm39)	missense	possibly damaging	0.63
R7740:Pdzd2	UTSW	15	12,374,102 (GRCm39)	missense	probably benign	0.00
R7748:Pdzd2	UTSW	15	12,385,872 (GRCm39)	missense	possibly damaging	0.60
R8017:Pdzd2	UTSW	15	12,373,122 (GRCm39)	missense	probably damaging	1.00
R8019:Pdzd2	UTSW	15	12,373,122 (GRCm39)	missense	probably damaging	1.00
R8108:Pdzd2	UTSW	15	12,373,592 (GRCm39)	missense	probably benign	0.01
R8109:Pdzd2	UTSW	15	12,373,592 (GRCm39)	missense	probably benign	0.01
R8110:Pdzd2	UTSW	15	12,373,592 (GRCm39)	missense	probably benign	0.01
R8111:Pdzd2	UTSW	15	12,373,592 (GRCm39)	missense	probably benign	0.01
R8145:Pdzd2	UTSW	15	12,407,458 (GRCm39)	missense	probably benign	0.37
R8220:Pdzd2	UTSW	15	12,592,249 (GRCm39)	missense	probably damaging	0.99
R8278:Pdzd2	UTSW	15	12,375,995 (GRCm39)	missense	probably benign
R8768:Pdzd2	UTSW	15	12,437,252 (GRCm39)	missense	probably damaging	1.00
R8879:Pdzd2	UTSW	15	12,402,405 (GRCm39)	missense	probably damaging	1.00
R9019:Pdzd2	UTSW	15	12,375,612 (GRCm39)	missense	probably damaging	1.00
R9030:Pdzd2	UTSW	15	12,374,385 (GRCm39)	missense	probably benign	0.02
R9061:Pdzd2	UTSW	15	12,374,753 (GRCm39)	missense	possibly damaging	0.94
R9302:Pdzd2	UTSW	15	12,374,342 (GRCm39)	missense	possibly damaging	0.61
R9321:Pdzd2	UTSW	15	12,386,023 (GRCm39)	missense	probably benign	0.00
R9421:Pdzd2	UTSW	15	12,375,114 (GRCm39)	missense
R9515:Pdzd2	UTSW	15	12,374,621 (GRCm39)	missense	probably damaging	1.00
R9592:Pdzd2	UTSW	15	12,458,106 (GRCm39)	missense	probably damaging	1.00
R9614:Pdzd2	UTSW	15	12,375,486 (GRCm39)	missense	probably damaging	1.00
R9630:Pdzd2	UTSW	15	12,374,443 (GRCm39)	missense	probably benign	0.37
R9776:Pdzd2	UTSW	15	12,457,909 (GRCm39)	missense	probably benign	0.03
X0057:Pdzd2	UTSW	15	12,411,113 (GRCm39)	missense	probably damaging	1.00
X0063:Pdzd2	UTSW	15	12,368,805 (GRCm39)	missense	possibly damaging	0.77
X0066:Pdzd2	UTSW	15	12,372,942 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCTTCAAGCAGAGCCCTATC -3'
(R):5'- AAGAGCAGGGAAGTTCGTCC -3'

Sequencing Primer
(F):5'- AGAGCCCTATCTTTCAAGCTTGTAGG -3'
(R):5'- AGGGAAGTTCGTCCTGACTC -3'

Posted On

2015-04-06