Mutagenetix > Incidental Mutation

Incidental Mutation 'R8894:Pkd2l2'

695757

Institutional Source

Beutler Lab

Gene Symbol

Pkd2l2

Ensembl Gene

ENSMUSG00000014503

Gene Name

polycystic kidney disease 2-like 2

Synonyms

Polycystin - L2, TRPP5

MMRRC Submission

068697-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8894 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34541553-34575842 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 34571273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014647] [ENSMUST00000040506] [ENSMUST00000166156]

AlphaFold

Q9JLG4

Predicted Effect

probably benign
Transcript: ENSMUST00000014647

SMART Domains

Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503

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

probably benign
Transcript: ENSMUST00000040506

SMART Domains

Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
RhoGAP	36	209	3.28e-44	SMART
coiled coil region	220	240	N/A	INTRINSIC
low complexity region	280	295	N/A	INTRINSIC
low complexity region	484	495	N/A	INTRINSIC
coiled coil region	507	532	N/A	INTRINSIC
low complexity region	719	726	N/A	INTRINSIC
coiled coil region	778	807	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166156

SMART Domains

Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,216,397 (GRCm39)	V291M	probably benign	Het
Abca14	A	C	7: 119,847,368 (GRCm39)	Y744S	probably damaging	Het
Acly	T	C	11: 100,407,639 (GRCm39)	E237G	probably benign	Het
Adcy1	T	A	11: 7,087,375 (GRCm39)	D416E	probably damaging	Het
Arid1b	T	A	17: 5,377,668 (GRCm39)	M1217K	probably damaging	Het
Atad2b	T	C	12: 5,064,001 (GRCm39)		probably null	Het
Ccdc177	A	G	12: 80,806,077 (GRCm39)	S66P	probably damaging	Het
Clpsl2	T	C	17: 28,769,645 (GRCm39)	C36R	possibly damaging	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Crb1	T	A	1: 139,175,750 (GRCm39)	L744F	possibly damaging	Het
Crybg3	T	A	16: 59,342,552 (GRCm39)	E980D	probably damaging	Het
Cyp2d11	A	T	15: 82,274,671 (GRCm39)	V302E	probably benign	Het
Cyp3a25	A	C	5: 145,931,670 (GRCm39)		probably benign	Het
Dhx35	G	C	2: 158,676,795 (GRCm39)	A410P	possibly damaging	Het
Dlg2	A	T	7: 91,614,946 (GRCm39)	H295L	probably benign	Het
Dnah2	T	A	11: 69,383,048 (GRCm39)	M1172L	probably benign	Het
Dock9	T	C	14: 121,860,373 (GRCm39)	S850G	probably benign	Het
Dst	A	T	1: 34,213,214 (GRCm39)	M1369L	possibly damaging	Het
Fcrl6	T	C	1: 172,426,856 (GRCm39)	N30S	probably benign	Het
Fibp	A	T	19: 5,513,309 (GRCm39)	Q208L	probably benign	Het
Foxc1	T	G	13: 31,992,205 (GRCm39)	S339A	unknown	Het
Fras1	T	C	5: 96,907,402 (GRCm39)	C3196R	probably damaging	Het
Galnt7	C	T	8: 57,979,176 (GRCm39)	W649*	probably null	Het
H2-M10.2	T	C	17: 36,595,555 (GRCm39)	N245S	possibly damaging	Het
Hapln3	G	A	7: 78,767,239 (GRCm39)	R267W	probably benign	Het
Hkdc1	T	C	10: 62,244,400 (GRCm39)	I229V	probably damaging	Het
Kank1	G	A	19: 25,408,378 (GRCm39)	G1286R	probably damaging	Het
Krba1	A	G	6: 48,388,629 (GRCm39)	I543V	probably damaging	Het
Lipn	A	T	19: 34,062,248 (GRCm39)	*401L	probably null	Het
Lrrc37a	T	C	11: 103,347,449 (GRCm39)	N3082S	unknown	Het
Magi1	A	T	6: 93,663,586 (GRCm39)	F1117Y	probably benign	Het
Man2a1	A	G	17: 65,020,596 (GRCm39)	K791E	probably benign	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mpp4	A	G	1: 59,197,743 (GRCm39)		probably null	Het
Muc2	T	G	7: 141,280,758 (GRCm39)	C371W	probably damaging	Het
Nebl	A	T	2: 17,380,036 (GRCm39)	N779K	probably benign	Het
Nf1	T	C	11: 79,336,619 (GRCm39)	L1066P	probably damaging	Het
Npat	T	C	9: 53,467,951 (GRCm39)	L302P	probably damaging	Het
Nudt21	C	A	8: 94,755,498 (GRCm39)	G146W	probably damaging	Het
Or10al6	T	A	17: 38,082,940 (GRCm39)	I132K	probably damaging	Het
Or10g1	A	T	14: 52,647,465 (GRCm39)	L288Q	probably damaging	Het
Or4c11c	T	G	2: 88,661,809 (GRCm39)	M116R	probably benign	Het
Or8c13	A	T	9: 38,091,370 (GRCm39)	F250I	probably damaging	Het
Plcd3	T	A	11: 102,962,592 (GRCm39)	N620Y	probably damaging	Het
Ppl	T	C	16: 4,925,206 (GRCm39)		probably benign	Het
Pramel41	T	G	5: 94,596,399 (GRCm39)	C479G	probably damaging	Het
Prep	T	C	10: 45,034,620 (GRCm39)	*711Q	probably null	Het
Psap	T	A	10: 60,135,736 (GRCm39)	V394E	possibly damaging	Het
Ptprr	T	A	10: 115,884,250 (GRCm39)	D102E	probably benign	Het
Rgsl1	T	A	1: 153,698,119 (GRCm39)		probably null	Het
Rimbp2	T	A	5: 128,850,454 (GRCm39)	D943V	possibly damaging	Het
Rsrc2	G	T	5: 123,878,793 (GRCm39)	R113S	unknown	Het
Sim1	T	A	10: 50,786,626 (GRCm39)	V286E	possibly damaging	Het
Slc35d1	A	T	4: 103,068,529 (GRCm39)	F124L		Het
Sort1	T	C	3: 108,246,228 (GRCm39)	F402L	probably damaging	Het
Spata31f1a	A	G	4: 42,853,688 (GRCm39)	C47R	possibly damaging	Het
Tlr2	T	A	3: 83,744,091 (GRCm39)	E664V	probably damaging	Het
Tmppe	A	T	9: 114,230,260 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 145,001,038 (GRCm39)	D356G	possibly damaging	Het
Tnrc18	T	C	5: 142,725,212 (GRCm39)	E1839G	unknown	Het
Trgv4	T	C	13: 19,369,627 (GRCm39)	S124P	probably damaging	Het
Trim17	T	A	11: 58,859,536 (GRCm39)	M250K	probably benign	Het
Trim33	C	T	3: 103,218,807 (GRCm39)	L315F	probably damaging	Het
Vmn1r43	A	G	6: 89,846,746 (GRCm39)	S247P	probably benign	Het
Vmn2r33	T	A	7: 7,566,809 (GRCm39)	Y101F	probably benign	Het
Vmn2r40	T	C	7: 8,923,197 (GRCm39)	D388G		Het
Wdr36	C	T	18: 32,970,340 (GRCm39)		probably benign	Het
Zfp2	T	A	11: 50,791,843 (GRCm39)	I67F	possibly damaging	Het

Other mutations in Pkd2l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01128:Pkd2l2	APN	18	34,550,068 (GRCm39)	missense	probably damaging	1.00
IGL01943:Pkd2l2	APN	18	34,550,089 (GRCm39)	missense	probably damaging	1.00
IGL02039:Pkd2l2	APN	18	34,568,421 (GRCm39)	critical splice donor site	probably null
IGL02139:Pkd2l2	APN	18	34,545,768 (GRCm39)	nonsense	probably null
IGL02480:Pkd2l2	APN	18	34,571,843 (GRCm39)	missense	possibly damaging	0.48
IGL02742:Pkd2l2	APN	18	34,549,970 (GRCm39)	nonsense	probably null
IGL02818:Pkd2l2	APN	18	34,545,862 (GRCm39)	missense	probably damaging	0.97
IGL03218:Pkd2l2	APN	18	34,563,373 (GRCm39)	missense	probably damaging	1.00
IGL03345:Pkd2l2	APN	18	34,558,142 (GRCm39)	missense	probably damaging	1.00
R0362:Pkd2l2	UTSW	18	34,568,380 (GRCm39)	missense	probably benign	0.03
R0627:Pkd2l2	UTSW	18	34,558,155 (GRCm39)	missense	probably damaging	1.00
R0883:Pkd2l2	UTSW	18	34,563,321 (GRCm39)	splice site	probably null
R0973:Pkd2l2	UTSW	18	34,561,305 (GRCm39)	missense	probably damaging	1.00
R0973:Pkd2l2	UTSW	18	34,561,305 (GRCm39)	missense	probably damaging	1.00
R0974:Pkd2l2	UTSW	18	34,561,305 (GRCm39)	missense	probably damaging	1.00
R1199:Pkd2l2	UTSW	18	34,571,269 (GRCm39)	critical splice donor site	probably null
R1529:Pkd2l2	UTSW	18	34,563,755 (GRCm39)	missense	probably damaging	1.00
R1579:Pkd2l2	UTSW	18	34,560,446 (GRCm39)	missense	possibly damaging	0.49
R2229:Pkd2l2	UTSW	18	34,563,382 (GRCm39)	missense	probably damaging	1.00
R3695:Pkd2l2	UTSW	18	34,571,843 (GRCm39)	missense	possibly damaging	0.48
R4058:Pkd2l2	UTSW	18	34,561,245 (GRCm39)	missense	probably benign	0.22
R4600:Pkd2l2	UTSW	18	34,571,254 (GRCm39)	missense	probably benign	0.03
R4651:Pkd2l2	UTSW	18	34,542,889 (GRCm39)	nonsense	probably null
R4652:Pkd2l2	UTSW	18	34,542,889 (GRCm39)	nonsense	probably null
R5114:Pkd2l2	UTSW	18	34,566,355 (GRCm39)	missense	probably benign
R5341:Pkd2l2	UTSW	18	34,542,987 (GRCm39)	splice site	probably null
R5686:Pkd2l2	UTSW	18	34,558,290 (GRCm39)	missense	probably damaging	1.00
R5920:Pkd2l2	UTSW	18	34,563,826 (GRCm39)	missense	probably benign
R6061:Pkd2l2	UTSW	18	34,563,742 (GRCm39)	missense	probably damaging	1.00
R6167:Pkd2l2	UTSW	18	34,561,297 (GRCm39)	missense	probably damaging	1.00
R6217:Pkd2l2	UTSW	18	34,547,733 (GRCm39)	missense	probably benign	0.03
R6293:Pkd2l2	UTSW	18	34,560,497 (GRCm39)	missense	probably damaging	1.00
R6572:Pkd2l2	UTSW	18	34,571,824 (GRCm39)	missense	probably damaging	0.99
R6574:Pkd2l2	UTSW	18	34,558,134 (GRCm39)	missense	probably damaging	1.00
R6723:Pkd2l2	UTSW	18	34,571,210 (GRCm39)	missense	probably damaging	0.98
R6941:Pkd2l2	UTSW	18	34,549,936 (GRCm39)	missense	probably benign	0.02
R6958:Pkd2l2	UTSW	18	34,542,543 (GRCm39)	nonsense	probably null
R7052:Pkd2l2	UTSW	18	34,558,212 (GRCm39)	missense	possibly damaging	0.90
R7695:Pkd2l2	UTSW	18	34,561,298 (GRCm39)	missense	possibly damaging	0.77
R7763:Pkd2l2	UTSW	18	34,566,340 (GRCm39)	critical splice acceptor site	probably null
R7777:Pkd2l2	UTSW	18	34,549,913 (GRCm39)	missense	probably damaging	1.00
R7944:Pkd2l2	UTSW	18	34,560,481 (GRCm39)	missense	possibly damaging	0.90
R8003:Pkd2l2	UTSW	18	34,561,232 (GRCm39)	missense	probably damaging	1.00
R8468:Pkd2l2	UTSW	18	34,560,464 (GRCm39)	missense	possibly damaging	0.88
R8482:Pkd2l2	UTSW	18	34,558,166 (GRCm39)	missense	possibly damaging	0.52
R8729:Pkd2l2	UTSW	18	34,566,354 (GRCm39)	missense	probably benign
R9336:Pkd2l2	UTSW	18	34,561,158 (GRCm39)	missense	probably damaging	1.00
R9408:Pkd2l2	UTSW	18	34,563,383 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGAGTCTTTGGTATACAGACAGC -3'
(R):5'- AGAGGGACAACACCACGTTC -3'

Sequencing Primer
(F):5'- CTTTGGTATACAGACAGCAGCCTG -3'
(R):5'- TTCAAACATGGGTCCTCAGG -3'

Posted On

2022-02-02