Mutagenetix > Incidental Mutations

Incidental Mutation 'R7695:Pkd2l2'

593631

Institutional Source

Beutler Lab

Gene Symbol

Pkd2l2

Ensembl Gene

ENSMUSG00000014503

Gene Name

polycystic kidney disease 2-like 2

Synonyms

TRPP5, Polycystin - L2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7695 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34409423-34442789 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34428245 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 435 (D435E)

Ref Sequence

ENSEMBL: ENSMUSP00000014647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014647] [ENSMUST00000166156]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014647
AA Change: D435E

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503
AA Change: D435E

Domain	Start	End	E-Value	Type
transmembrane domain	32	51	N/A	INTRINSIC
Pfam:PKD_channel	75	497	9.8e-129	PFAM
Pfam:Ion_trans	281	490	4.1e-19	PFAM
coiled coil region	523	550	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166156
AA Change: D435E

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503
AA Change: D435E

Domain	Start	End	E-Value	Type
transmembrane domain	32	51	N/A	INTRINSIC
Pfam:PKD_channel	75	497	9.6e-131	PFAM
Pfam:Ion_trans	242	502	4.8e-20	PFAM
coiled coil region	523	550	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted gene disruption display hyperactivity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024P04Rik	T	C	13: 98,984,258	T87A	probably damaging	Het
Adgrb1	T	C	15: 74,543,638	V689A	possibly damaging	Het
Casp12	A	G	9: 5,353,641	E225G	probably damaging	Het
Ccdc39	A	G	3: 33,814,519	L806P	probably damaging	Het
Ccnd3	T	A	17: 47,597,496	I164N	probably damaging	Het
Cd209b	A	G	8: 3,926,005	V52A	probably benign	Het
Celsr2	G	A	3: 108,402,753	R1554W	probably damaging	Het
Cnot1	A	T	8: 95,770,632	I239N	probably benign	Het
Csmd3	A	T	15: 47,820,381	V948D		Het
Dnmt1	C	A	9: 20,913,985	G1061V	probably null	Het
Dpysl4	A	G	7: 139,086,123	M1V	probably null	Het
Elp5	T	C	11: 69,969,501	T227A	probably benign	Het
Exosc1	G	A	19: 41,928,080	H86Y	possibly damaging	Het
Foxn4	G	T	5: 114,256,587	D426E	probably damaging	Het
Gabbr2	A	G	4: 46,875,687	L145P	probably damaging	Het
Gkn3	A	G	6: 87,384,440	Y126H	probably damaging	Het
Gm16506	A	G	14: 43,725,006	F148S		Het
Gm3558	A	G	14: 7,551,798	I76T	probably benign	Het
Gm49359	A	G	13: 62,456,744	F45S	possibly damaging	Het
Gpc5	A	T	14: 115,092,594	H63L	unknown	Het
Hbs1l	A	T	10: 21,299,217	D28V	possibly damaging	Het
Ide	G	A	19: 37,329,036	H113Y		Het
Igkv3-3	A	T	6: 70,687,311	S46C	probably damaging	Het
Igsf10	A	T	3: 59,326,191	V1707D	probably damaging	Het
Kcna5	A	T	6: 126,534,211	V318E	probably damaging	Het
Kdm3b	T	C	18: 34,794,559	F158S	possibly damaging	Het
Lrrc14b	T	A	13: 74,363,178	D261V	possibly damaging	Het
Lrrc71	T	A	3: 87,739,462	I485F	probably damaging	Het
Map6	C	T	7: 99,336,292	L671F	possibly damaging	Het
Mast1	A	G	8: 84,920,928	V560A	probably damaging	Het
Mfap4	A	T	11: 61,485,719		probably null	Het
Myh9	A	G	15: 77,766,736	I1637T	probably benign	Het
Neo1	A	T	9: 58,902,929	F1080I	possibly damaging	Het
Olfr1269	A	G	2: 90,118,863	V245A	probably benign	Het
Olfr1298	A	G	2: 111,645,625	V124A	probably damaging	Het
Olfr23	T	A	11: 73,940,894	V216E	possibly damaging	Het
Olfr559	T	C	7: 102,723,659	H277R	probably benign	Het
Pax2	A	G	19: 44,833,199	Y318C	probably damaging	Het
Pcnx4	A	T	12: 72,541,576	M53L	probably benign	Het
Plec	G	A	15: 76,183,855	Q1117*	probably null	Het
Ppp2r2c	T	C	5: 36,947,182	L302P	probably damaging	Het
Prex2	T	C	1: 11,162,273	F855L	probably benign	Het
Reg3d	A	T	6: 78,377,136	W103R	probably benign	Het
Rnf216	A	C	5: 143,085,904	H440Q	possibly damaging	Het
Scn2a	A	G	2: 65,711,907	T785A	probably damaging	Het
Sh3pxd2a	T	A	19: 47,267,831	Y844F	probably damaging	Het
Sp110	G	A	1: 85,579,092	R417C		Het
Spp1	T	C	5: 104,435,143		probably benign	Het
Tacc2	T	A	7: 130,728,903	S196T	probably benign	Het
Thrap3	G	A	4: 126,180,098	S285L	probably damaging	Het
Ttn	T	A	2: 76,835,961	R11584*	probably null	Het
Ubap2	A	G	4: 41,211,740	S341P	probably damaging	Het
Upf3a	T	G	8: 13,798,279	S358R	probably benign	Het
Zdbf2	T	A	1: 63,307,370	I1636N	possibly damaging	Het
Zfp946	C	A	17: 22,455,021	T252N	probably benign	Het

Other mutations in Pkd2l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01128:Pkd2l2	APN	18	34417015	missense	probably damaging	1.00
IGL01943:Pkd2l2	APN	18	34417036	missense	probably damaging	1.00
IGL02039:Pkd2l2	APN	18	34435368	critical splice donor site	probably null
IGL02139:Pkd2l2	APN	18	34412715	nonsense	probably null
IGL02480:Pkd2l2	APN	18	34438790	missense	possibly damaging	0.48
IGL02742:Pkd2l2	APN	18	34416917	nonsense	probably null
IGL02818:Pkd2l2	APN	18	34412809	missense	probably damaging	0.97
IGL03218:Pkd2l2	APN	18	34430320	missense	probably damaging	1.00
IGL03345:Pkd2l2	APN	18	34425089	missense	probably damaging	1.00
R0362:Pkd2l2	UTSW	18	34435327	missense	probably benign	0.03
R0627:Pkd2l2	UTSW	18	34425102	missense	probably damaging	1.00
R0883:Pkd2l2	UTSW	18	34430268	splice site	probably null
R0973:Pkd2l2	UTSW	18	34428252	missense	probably damaging	1.00
R0973:Pkd2l2	UTSW	18	34428252	missense	probably damaging	1.00
R0974:Pkd2l2	UTSW	18	34428252	missense	probably damaging	1.00
R1199:Pkd2l2	UTSW	18	34438216	critical splice donor site	probably null
R1529:Pkd2l2	UTSW	18	34430702	missense	probably damaging	1.00
R1579:Pkd2l2	UTSW	18	34427393	missense	possibly damaging	0.49
R2229:Pkd2l2	UTSW	18	34430329	missense	probably damaging	1.00
R3695:Pkd2l2	UTSW	18	34438790	missense	possibly damaging	0.48
R4058:Pkd2l2	UTSW	18	34428192	missense	probably benign	0.22
R4600:Pkd2l2	UTSW	18	34438201	missense	probably benign	0.03
R4651:Pkd2l2	UTSW	18	34409836	nonsense	probably null
R4652:Pkd2l2	UTSW	18	34409836	nonsense	probably null
R5114:Pkd2l2	UTSW	18	34433302	missense	probably benign
R5341:Pkd2l2	UTSW	18	34409934	splice site	probably null
R5686:Pkd2l2	UTSW	18	34425237	missense	probably damaging	1.00
R5920:Pkd2l2	UTSW	18	34430773	missense	probably benign
R6061:Pkd2l2	UTSW	18	34430689	missense	probably damaging	1.00
R6167:Pkd2l2	UTSW	18	34428244	missense	probably damaging	1.00
R6217:Pkd2l2	UTSW	18	34414680	missense	probably benign	0.03
R6293:Pkd2l2	UTSW	18	34427444	missense	probably damaging	1.00
R6572:Pkd2l2	UTSW	18	34438771	missense	probably damaging	0.99
R6574:Pkd2l2	UTSW	18	34425081	missense	probably damaging	1.00
R6723:Pkd2l2	UTSW	18	34438157	missense	probably damaging	0.98
R6941:Pkd2l2	UTSW	18	34416883	missense	probably benign	0.02
R6958:Pkd2l2	UTSW	18	34409490	nonsense	probably null
R7052:Pkd2l2	UTSW	18	34425159	missense	possibly damaging	0.90
R7763:Pkd2l2	UTSW	18	34433287	critical splice acceptor site	probably null
R7777:Pkd2l2	UTSW	18	34416860	missense	probably damaging	1.00
R7944:Pkd2l2	UTSW	18	34427428	missense	possibly damaging	0.90
R8003:Pkd2l2	UTSW	18	34428179	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAATTTACTGGACTCTAAACAGCCCC -3'
(R):5'- TTAGTTCTCAGGTGGCAGACG -3'

Sequencing Primer
(F):5'- ACTGGAACGCACTGACTCTTG -3'
(R):5'- CAGACGTCGTTTGCATGGC -3'

Posted On

2019-11-12