Mutagenetix > Incidental Mutation

Incidental Mutation 'R7442:Pkd2l1'

577059

Institutional Source

Beutler Lab

Gene Symbol

Pkd2l1

Ensembl Gene

ENSMUSG00000037578

Gene Name

polycystic kidney disease 2-like 1

Synonyms

PKD2L, polycystin-L, PCL, TRPP3, Pkdl

MMRRC Submission

045518-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R7442 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44136076-44180881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44145668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 185 (H185R)

Ref Sequence

ENSEMBL: ENSMUSP00000045675 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042026]

AlphaFold

A2A259

Predicted Effect

probably benign
Transcript: ENSMUST00000042026
AA Change: H185R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000045675
Gene: ENSMUSG00000037578
AA Change: H185R

Domain	Start	End	E-Value	Type
transmembrane domain	105	127	N/A	INTRINSIC
Pfam:PKD_channel	145	567	1.3e-172	PFAM
Pfam:Ion_trans	335	572	1.8e-30	PFAM
low complexity region	592	598	N/A	INTRINSIC
SCOP:d2pvba_	616	676	2e-4	SMART
PDB:4GIF\|A	698	739	1e-17	PDB

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (76/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased chorda tympani nerve response to sour tastants. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	G	8: 79,946,919 (GRCm39)	I109T	probably damaging	Het
A430033K04Rik	T	C	5: 138,645,509 (GRCm39)	S465P	possibly damaging	Het
Acap3	T	C	4: 155,990,078 (GRCm39)	F753L	probably damaging	Het
Adam9	A	T	8: 25,457,223 (GRCm39)	V635E	probably damaging	Het
Adgre4	T	A	17: 56,159,340 (GRCm39)	V675E	probably benign	Het
Anapc4	T	C	5: 53,014,543 (GRCm39)	Y469H	probably benign	Het
Ankdd1b	T	G	13: 96,561,268 (GRCm39)	K325N	possibly damaging	Het
Aox1	T	C	1: 58,121,172 (GRCm39)	V881A	probably damaging	Het
Arhgap5	A	G	12: 52,563,739 (GRCm39)	T237A	probably benign	Het
Asah1	T	C	8: 41,796,602 (GRCm39)	D331G	possibly damaging	Het
Atp5f1a	G	A	18: 77,866,820 (GRCm39)	R231H	probably benign	Het
Bod1l	G	A	5: 41,964,522 (GRCm39)	P2694L	probably damaging	Het
Bst1	T	C	5: 43,979,084 (GRCm39)	S143P	probably benign	Het
Cacna1b	A	C	2: 24,497,513 (GRCm39)	S2132A	probably benign	Het
Caps2	G	T	10: 112,044,259 (GRCm39)	R486L	probably damaging	Het
Ccdc168	A	G	1: 44,097,868 (GRCm39)	S1077P	possibly damaging	Het
Cd68	T	C	11: 69,556,754 (GRCm39)	T18A	probably benign	Het
Cdk8	T	C	5: 146,229,579 (GRCm39)		probably null	Het
Col18a1	A	T	10: 76,932,072 (GRCm39)	I127N	unknown	Het
Dsc3	T	C	18: 20,114,213 (GRCm39)	D347G	probably damaging	Het
Dyrk2	T	C	10: 118,695,786 (GRCm39)	S491G	probably damaging	Het
Edem1	T	A	6: 108,828,266 (GRCm39)	Y530*	probably null	Het
Enc1	A	T	13: 97,383,248 (GRCm39)	H586L	probably benign	Het
Ephb6	T	G	6: 41,594,981 (GRCm39)		probably null	Het
Etv5	G	T	16: 22,254,809 (GRCm39)	Q48K	probably damaging	Het
Exoc3l	A	G	8: 106,019,558 (GRCm39)	W404R	probably damaging	Het
Fbn1	C	A	2: 125,245,132 (GRCm39)	A252S	possibly damaging	Het
Foxe3	A	G	4: 114,782,490 (GRCm39)	S241P	unknown	Het
Gm49380	T	A	9: 44,023,709 (GRCm39)	M180L	probably benign	Het
Hoxd1	A	T	2: 74,593,903 (GRCm39)	D153V	probably damaging	Het
Ifi207	C	T	1: 173,554,997 (GRCm39)	S895N	probably benign	Het
Igf1r	G	A	7: 67,823,026 (GRCm39)	V385M	probably damaging	Het
Ints9	C	T	14: 65,232,513 (GRCm39)	Q191*	probably null	Het
Ktn1	A	G	14: 47,952,097 (GRCm39)	E979G	probably benign	Het
Lama3	G	A	18: 12,605,238 (GRCm39)		probably null	Het
Lrtm2	C	T	6: 119,294,392 (GRCm39)	M246I	probably damaging	Het
Mdm1	T	C	10: 117,982,590 (GRCm39)	V75A	probably benign	Het
Mia3	T	C	1: 183,140,220 (GRCm39)	E165G	probably benign	Het
Mrps21	T	C	3: 95,770,128 (GRCm39)	E67G	probably damaging	Het
Mybpc1	A	C	10: 88,362,155 (GRCm39)	I995S	probably damaging	Het
Mylk2	T	G	2: 152,753,346 (GRCm39)		probably benign	Het
Myo16	G	A	8: 10,322,537 (GRCm39)	C11Y	probably damaging	Het
Nudt18	A	C	14: 70,816,798 (GRCm39)	D134A	probably benign	Het
Obox1	G	T	7: 15,289,491 (GRCm39)	K93N	probably benign	Het
Or12d2	T	A	17: 37,624,816 (GRCm39)	H153L	possibly damaging	Het
Or2r3	A	T	6: 42,448,434 (GRCm39)	M226K	probably benign	Het
Or56a4	T	C	7: 104,806,289 (GRCm39)	Y200C	probably damaging	Het
Or5ar1	A	T	2: 85,672,096 (GRCm39)	V13D	probably benign	Het
Ptpn18	A	G	1: 34,501,831 (GRCm39)	T48A	probably benign	Het
Ptprd	A	T	4: 75,978,058 (GRCm39)	Y583*	probably null	Het
Ptprk	G	A	10: 28,450,815 (GRCm39)	G992D	probably damaging	Het
Setdb2	A	G	14: 59,656,700 (GRCm39)	F206L	probably damaging	Het
Slain1	A	G	14: 103,923,150 (GRCm39)	D247G	probably damaging	Het
Slc10a2	A	T	8: 5,139,086 (GRCm39)	V286E	possibly damaging	Het
Slc44a2	C	T	9: 21,256,819 (GRCm39)	T367I	probably damaging	Het
Slco4a1	T	C	2: 180,115,919 (GRCm39)	V685A	probably benign	Het
Srp54c	T	A	12: 55,302,347 (GRCm39)	Y333N	probably damaging	Het
Srrm2	T	C	17: 24,039,091 (GRCm39)	S1912P	unknown	Het
St7l	A	G	3: 104,796,645 (GRCm39)	T253A	possibly damaging	Het
Styxl2	T	C	1: 165,928,584 (GRCm39)	K343E	probably benign	Het
Sun3	T	G	11: 8,981,445 (GRCm39)	Y53S	possibly damaging	Het
Tktl2	A	G	8: 66,965,561 (GRCm39)	N373S	possibly damaging	Het
Tmco3	T	A	8: 13,370,781 (GRCm39)	S648R	probably damaging	Het
Tmem178	T	A	17: 81,252,185 (GRCm39)	V23D	probably damaging	Het
Tmem229a	C	A	6: 24,955,689 (GRCm39)	G22W	probably damaging	Het
Top3a	C	T	11: 60,644,744 (GRCm39)	S320N	possibly damaging	Het
Treml1	C	A	17: 48,673,719 (GRCm39)	D243E	probably damaging	Het
Trim42	C	T	9: 97,244,998 (GRCm39)	V601M	probably damaging	Het
Ttn	A	G	2: 76,573,350 (GRCm39)	S25848P	probably damaging	Het
Vmn1r86	A	T	7: 12,835,983 (GRCm39)	F298I	possibly damaging	Het
Vmn2r96	T	C	17: 18,793,662 (GRCm39)	F2S	probably benign	Het
Xpc	A	G	6: 91,481,631 (GRCm39)	L230P	probably damaging	Het
Xpo4	A	G	14: 57,867,680 (GRCm39)	V189A	probably benign	Het
Zfhx3	A	G	8: 109,519,468 (GRCm39)	T197A	probably damaging	Het
Zswim1	A	G	2: 164,667,710 (GRCm39)	K321E	probably damaging	Het

Other mutations in Pkd2l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Pkd2l1	APN	19	44,146,075 (GRCm39)	critical splice donor site	probably null
IGL00426:Pkd2l1	APN	19	44,144,044 (GRCm39)	missense	probably benign	0.21
IGL00848:Pkd2l1	APN	19	44,180,718 (GRCm39)	utr 5 prime	probably benign
IGL01315:Pkd2l1	APN	19	44,180,635 (GRCm39)	missense	probably benign	0.09
IGL01654:Pkd2l1	APN	19	44,142,662 (GRCm39)	missense	probably damaging	0.98
IGL01786:Pkd2l1	APN	19	44,179,881 (GRCm39)	missense	probably damaging	0.96
IGL02174:Pkd2l1	APN	19	44,145,707 (GRCm39)	missense	probably benign	0.04
IGL02648:Pkd2l1	APN	19	44,143,975 (GRCm39)	missense	possibly damaging	0.72
R0654:Pkd2l1	UTSW	19	44,146,070 (GRCm39)	splice site	probably null
R0762:Pkd2l1	UTSW	19	44,138,909 (GRCm39)	missense	probably benign	0.19
R0981:Pkd2l1	UTSW	19	44,142,861 (GRCm39)	critical splice donor site	probably null
R1114:Pkd2l1	UTSW	19	44,179,983 (GRCm39)	splice site	probably benign
R1381:Pkd2l1	UTSW	19	44,138,902 (GRCm39)	missense	probably benign	0.08
R1467:Pkd2l1	UTSW	19	44,142,648 (GRCm39)	missense	possibly damaging	0.91
R1467:Pkd2l1	UTSW	19	44,142,648 (GRCm39)	missense	possibly damaging	0.91
R1754:Pkd2l1	UTSW	19	44,144,040 (GRCm39)	nonsense	probably null
R2009:Pkd2l1	UTSW	19	44,144,403 (GRCm39)	missense	probably benign	0.01
R2125:Pkd2l1	UTSW	19	44,142,939 (GRCm39)	missense	possibly damaging	0.91
R2696:Pkd2l1	UTSW	19	44,145,708 (GRCm39)	missense	probably benign	0.01
R3001:Pkd2l1	UTSW	19	44,143,996 (GRCm39)	missense	possibly damaging	0.81
R3002:Pkd2l1	UTSW	19	44,143,996 (GRCm39)	missense	possibly damaging	0.81
R3701:Pkd2l1	UTSW	19	44,145,666 (GRCm39)	missense	probably damaging	0.99
R4179:Pkd2l1	UTSW	19	44,180,620 (GRCm39)	missense	probably benign	0.01
R4180:Pkd2l1	UTSW	19	44,180,620 (GRCm39)	missense	probably benign	0.01
R4614:Pkd2l1	UTSW	19	44,142,573 (GRCm39)	missense	probably damaging	0.99
R4616:Pkd2l1	UTSW	19	44,142,573 (GRCm39)	missense	probably damaging	0.99
R4617:Pkd2l1	UTSW	19	44,142,573 (GRCm39)	missense	probably damaging	0.99
R4618:Pkd2l1	UTSW	19	44,142,573 (GRCm39)	missense	probably damaging	0.99
R4762:Pkd2l1	UTSW	19	44,144,060 (GRCm39)	missense	probably benign	0.09
R4893:Pkd2l1	UTSW	19	44,142,210 (GRCm39)	missense	probably benign	0.00
R4907:Pkd2l1	UTSW	19	44,142,581 (GRCm39)	missense	possibly damaging	0.95
R5004:Pkd2l1	UTSW	19	44,138,016 (GRCm39)	missense	probably benign	0.00
R5380:Pkd2l1	UTSW	19	44,146,171 (GRCm39)	missense	probably benign	0.33
R5480:Pkd2l1	UTSW	19	44,180,595 (GRCm39)	missense	probably benign	0.18
R5950:Pkd2l1	UTSW	19	44,140,529 (GRCm39)	missense	probably benign	0.27
R6248:Pkd2l1	UTSW	19	44,146,108 (GRCm39)	missense	probably benign	0.00
R6908:Pkd2l1	UTSW	19	44,140,885 (GRCm39)	missense	probably damaging	1.00
R6925:Pkd2l1	UTSW	19	44,179,947 (GRCm39)	missense	possibly damaging	0.92
R7021:Pkd2l1	UTSW	19	44,142,647 (GRCm39)	missense	probably damaging	0.98
R7322:Pkd2l1	UTSW	19	44,146,129 (GRCm39)	missense	probably benign	0.00
R7378:Pkd2l1	UTSW	19	44,142,154 (GRCm39)	missense	probably benign	0.05
R7636:Pkd2l1	UTSW	19	44,179,870 (GRCm39)	missense	possibly damaging	0.70
R7954:Pkd2l1	UTSW	19	44,142,651 (GRCm39)	missense	probably benign	0.15
R7989:Pkd2l1	UTSW	19	44,142,507 (GRCm39)	missense	probably benign	0.10
R9007:Pkd2l1	UTSW	19	44,140,864 (GRCm39)	missense	possibly damaging	0.49
R9245:Pkd2l1	UTSW	19	44,143,894 (GRCm39)	missense	probably benign	0.33
R9675:Pkd2l1	UTSW	19	44,137,696 (GRCm39)	missense	probably benign	0.00
X0026:Pkd2l1	UTSW	19	44,145,621 (GRCm39)	missense	probably damaging	1.00
Z1176:Pkd2l1	UTSW	19	44,137,710 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGCCCTACACTTTTGGCAG -3'
(R):5'- TCAACTGTGGGAGTCCAAACAG -3'

Sequencing Primer
(F):5'- CTACACTTTTGGCAGGGGCTC -3'
(R):5'- CTGTGGGAGTCCAAACAGTAGAG -3'

Posted On

2019-10-07