Mutagenetix > Incidental Mutation

Incidental Mutation 'R5296:Pkdrej'

405437

Institutional Source

Beutler Lab

Gene Symbol

Pkdrej

Ensembl Gene

ENSMUSG00000052496

Gene Name

polycystin (PKD) family receptor for egg jelly

Synonyms

MMRRC Submission

042879-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R5296 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85814670-85821734 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85817118 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1539 (T1539I)

Ref Sequence

ENSEMBL: ENSMUSP00000086352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064370]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064370
AA Change: T1539I

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: T1539I

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:REJ	130	598	6.2e-116	PFAM
coiled coil region	657	687	N/A	INTRINSIC
low complexity region	942	947	N/A	INTRINSIC
GPS	984	1050	1.37e-2	SMART
transmembrane domain	1067	1089	N/A	INTRINSIC
LH2	1114	1230	3.35e-6	SMART
transmembrane domain	1274	1292	N/A	INTRINSIC
transmembrane domain	1312	1334	N/A	INTRINSIC
low complexity region	1407	1415	N/A	INTRINSIC
transmembrane domain	1451	1473	N/A	INTRINSIC
transmembrane domain	1483	1505	N/A	INTRINSIC
low complexity region	1571	1579	N/A	INTRINSIC
transmembrane domain	1581	1603	N/A	INTRINSIC
Pfam:PKD_channel	1621	2051	5.2e-154	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.9%
20x: 96.6%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biological natures have not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null males are fertile in unrestricted mating trials but show lower reproductive success in sequential mating and artificial insemination trials. Although mutant sperm are able to capacitate in vitro, they acquire exocytotic competence at a slower rate than wild-type sperm. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobr	A	C	7: 126,588,024 (GRCm38)	D89A	probably damaging	Het
Bhlhe41	C	T	6: 145,862,968 (GRCm38)		probably benign	Het
Cacna1s	G	A	1: 136,095,785 (GRCm38)	V674M	probably benign	Het
Cavin2	T	C	1: 51,289,870 (GRCm38)		probably null	Het
Cd300lb	T	C	11: 114,924,937 (GRCm38)	S106G	possibly damaging	Het
Ceacam15	A	G	7: 16,673,196 (GRCm38)	V132A	probably benign	Het
Ddi2	G	T	4: 141,684,765 (GRCm38)	Q279K	probably benign	Het
Dnah11	A	G	12: 117,883,416 (GRCm38)	V4304A	probably damaging	Het
Dnah2	C	T	11: 69,458,920 (GRCm38)	R2399Q	probably benign	Het
Dnase1l1	C	T	X: 74,277,038 (GRCm38)		probably null	Het
Epsti1	T	A	14: 77,904,650 (GRCm38)	H55Q	probably benign	Het
Flad1	T	C	3: 89,411,196 (GRCm38)	T17A	probably damaging	Het
Fzd2	C	T	11: 102,606,155 (GRCm38)	T475M	probably damaging	Het
Gemin5	C	A	11: 58,130,061 (GRCm38)	W1099L	probably damaging	Het
Gm8979	A	T	7: 106,081,848 (GRCm38)		noncoding transcript	Het
Gm9892	T	C	8: 52,196,929 (GRCm38)		noncoding transcript	Het
Gmeb2	A	G	2: 181,255,986 (GRCm38)		probably benign	Het
Grip1	A	G	10: 119,929,928 (GRCm38)	E55G	probably damaging	Het
Hltf	T	C	3: 20,108,112 (GRCm38)	S825P	probably damaging	Het
Kcnh3	A	T	15: 99,241,939 (GRCm38)	Q902L	probably null	Het
Kcnt2	C	T	1: 140,609,615 (GRCm38)	P1037L	probably damaging	Het
Klhl18	G	C	9: 110,436,127 (GRCm38)	N335K	possibly damaging	Het
Lama5	A	C	2: 180,193,801 (GRCm38)	L1253R	probably damaging	Het
Lancl2	T	G	6: 57,724,582 (GRCm38)	S230A	probably benign	Het
Lmcd1	A	G	6: 112,315,588 (GRCm38)	M134V	probably damaging	Het
Lrrc23	C	A	6: 124,774,482 (GRCm38)	A205S	probably damaging	Het
Mfsd13b	T	A	7: 120,991,738 (GRCm38)	I234N	probably damaging	Het
Mroh3	A	G	1: 136,196,323 (GRCm38)	S386P	probably damaging	Het
Mylk3	A	C	8: 85,355,431 (GRCm38)	F313V	possibly damaging	Het
Myo9b	A	T	8: 71,333,388 (GRCm38)	Q643L	possibly damaging	Het
Nacad	T	C	11: 6,605,745 (GRCm38)	S2G	unknown	Het
Olfr1269	A	T	2: 90,118,699 (GRCm38)	W300R	probably damaging	Het
Olfr136	C	T	17: 38,335,456 (GRCm38)	Q100*	probably null	Het
Olfr419	G	T	1: 174,250,756 (GRCm38)	T57K	possibly damaging	Het
Olfr908	T	C	9: 38,516,116 (GRCm38)	F28S	probably damaging	Het
Pkd1	T	C	17: 24,576,074 (GRCm38)	V2245A	probably damaging	Het
Plch2	G	T	4: 154,989,999 (GRCm38)		probably null	Het
Pygm	G	A	19: 6,384,579 (GRCm38)	R34H	probably damaging	Het
Rgs12	T	C	5: 35,021,104 (GRCm38)		probably benign	Het
Ruvbl1	T	C	6: 88,485,908 (GRCm38)	I338T	probably damaging	Het
Sapcd1	T	A	17: 35,026,731 (GRCm38)	Q104L	probably damaging	Het
Satb2	T	C	1: 56,796,907 (GRCm38)	E575G	probably damaging	Het
Sema6b	T	A	17: 56,127,091 (GRCm38)		probably null	Het
Slc25a11	T	C	11: 70,646,185 (GRCm38)	N15D	probably damaging	Het
Slc26a6	C	T	9: 108,860,646 (GRCm38)	T526M	probably damaging	Het
Tcaf3	G	T	6: 42,587,510 (GRCm38)	T906K	possibly damaging	Het
Thbd	A	T	2: 148,406,983 (GRCm38)	C322S	probably damaging	Het
Traf2	A	G	2: 25,520,440 (GRCm38)	L399P	probably damaging	Het
Troap	T	A	15: 99,078,817 (GRCm38)	V274D	probably damaging	Het
Utrn	G	A	10: 12,401,355 (GRCm38)	T3406M	probably damaging	Het
Uts2	G	T	4: 150,999,051 (GRCm38)	A40S	possibly damaging	Het
Vmn2r109	T	A	17: 20,554,341 (GRCm38)	I251F	possibly damaging	Het
Vmn2r67	A	G	7: 85,137,022 (GRCm38)	S592P	probably damaging	Het
Vps13b	T	G	15: 35,876,413 (GRCm38)	W2797G	probably damaging	Het
Ythdf1	A	T	2: 180,912,188 (GRCm38)	M51K	probably damaging	Het
Zfp60	T	A	7: 27,738,530 (GRCm38)		probably benign	Het
Zfp882	T	A	8: 71,914,360 (GRCm38)	F344I	probably damaging	Het

Other mutations in Pkdrej

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Pkdrej	APN	15	85,817,226 (GRCm38)	missense	probably damaging	1.00
IGL00981:Pkdrej	APN	15	85,819,656 (GRCm38)	missense	probably damaging	1.00
IGL01066:Pkdrej	APN	15	85,816,159 (GRCm38)	missense	probably benign	0.22
IGL01461:Pkdrej	APN	15	85,820,374 (GRCm38)	missense	possibly damaging	0.77
IGL01514:Pkdrej	APN	15	85,818,063 (GRCm38)	missense	possibly damaging	0.82
IGL01606:Pkdrej	APN	15	85,817,700 (GRCm38)	missense	possibly damaging	0.67
IGL01836:Pkdrej	APN	15	85,820,958 (GRCm38)	missense	probably damaging	1.00
IGL02089:Pkdrej	APN	15	85,816,288 (GRCm38)	missense	possibly damaging	0.87
IGL02197:Pkdrej	APN	15	85,815,793 (GRCm38)	missense	possibly damaging	0.89
IGL02331:Pkdrej	APN	15	85,821,327 (GRCm38)	missense	probably damaging	1.00
IGL02559:Pkdrej	APN	15	85,817,848 (GRCm38)	missense	probably benign
IGL02708:Pkdrej	APN	15	85,820,787 (GRCm38)	missense	probably damaging	1.00
IGL02739:Pkdrej	APN	15	85,819,694 (GRCm38)	missense	probably benign	0.41
IGL02741:Pkdrej	APN	15	85,817,430 (GRCm38)	missense	probably benign	0.04
IGL02882:Pkdrej	APN	15	85,817,296 (GRCm38)	missense	probably damaging	1.00
IGL02968:Pkdrej	APN	15	85,816,181 (GRCm38)	nonsense	probably null
IGL03250:Pkdrej	APN	15	85,821,355 (GRCm38)	missense	possibly damaging	0.92
FR4548:Pkdrej	UTSW	15	85,819,680 (GRCm38)	small insertion	probably benign
FR4737:Pkdrej	UTSW	15	85,819,680 (GRCm38)	small insertion	probably benign
PIT1430001:Pkdrej	UTSW	15	85,821,292 (GRCm38)	missense	probably damaging	0.99
PIT4280001:Pkdrej	UTSW	15	85,819,935 (GRCm38)	missense	probably benign	0.01
R0004:Pkdrej	UTSW	15	85,818,183 (GRCm38)	missense	probably damaging	1.00
R0116:Pkdrej	UTSW	15	85,817,545 (GRCm38)	nonsense	probably null
R0117:Pkdrej	UTSW	15	85,816,099 (GRCm38)	splice site	probably null
R0137:Pkdrej	UTSW	15	85,821,567 (GRCm38)	missense	possibly damaging	0.95
R0141:Pkdrej	UTSW	15	85,815,630 (GRCm38)	missense	probably damaging	0.99
R0325:Pkdrej	UTSW	15	85,819,551 (GRCm38)	missense	probably benign	0.08
R0714:Pkdrej	UTSW	15	85,815,511 (GRCm38)	missense	possibly damaging	0.85
R0749:Pkdrej	UTSW	15	85,818,074 (GRCm38)	missense	probably benign	0.43
R0750:Pkdrej	UTSW	15	85,818,074 (GRCm38)	missense	probably benign	0.43
R0755:Pkdrej	UTSW	15	85,816,135 (GRCm38)	missense	probably benign	0.00
R0938:Pkdrej	UTSW	15	85,818,163 (GRCm38)	missense	probably damaging	1.00
R1126:Pkdrej	UTSW	15	85,816,314 (GRCm38)	missense	probably damaging	0.99
R1204:Pkdrej	UTSW	15	85,818,312 (GRCm38)	missense	probably damaging	1.00
R1353:Pkdrej	UTSW	15	85,818,918 (GRCm38)	missense	probably damaging	1.00
R1471:Pkdrej	UTSW	15	85,817,133 (GRCm38)	missense	probably benign	0.37
R1510:Pkdrej	UTSW	15	85,816,762 (GRCm38)	missense	possibly damaging	0.61
R1573:Pkdrej	UTSW	15	85,818,074 (GRCm38)	missense	probably benign	0.43
R1588:Pkdrej	UTSW	15	85,817,241 (GRCm38)	missense	probably benign	0.44
R1739:Pkdrej	UTSW	15	85,820,427 (GRCm38)	missense	probably benign	0.03
R1779:Pkdrej	UTSW	15	85,821,171 (GRCm38)	missense	possibly damaging	0.83
R1781:Pkdrej	UTSW	15	85,821,171 (GRCm38)	missense	possibly damaging	0.83
R1828:Pkdrej	UTSW	15	85,819,282 (GRCm38)	missense	possibly damaging	0.48
R1865:Pkdrej	UTSW	15	85,820,324 (GRCm38)	nonsense	probably null
R1870:Pkdrej	UTSW	15	85,816,431 (GRCm38)	missense	probably damaging	1.00
R1937:Pkdrej	UTSW	15	85,819,167 (GRCm38)	missense	probably benign	0.00
R2069:Pkdrej	UTSW	15	85,821,231 (GRCm38)	missense	probably benign	0.01
R2113:Pkdrej	UTSW	15	85,818,984 (GRCm38)	missense	probably damaging	1.00
R2135:Pkdrej	UTSW	15	85,816,506 (GRCm38)	missense	probably damaging	1.00
R2428:Pkdrej	UTSW	15	85,817,572 (GRCm38)	nonsense	probably null
R2991:Pkdrej	UTSW	15	85,819,936 (GRCm38)	missense	probably benign	0.00
R3029:Pkdrej	UTSW	15	85,817,004 (GRCm38)	missense	probably benign	0.16
R3162:Pkdrej	UTSW	15	85,816,617 (GRCm38)	missense	probably damaging	1.00
R3162:Pkdrej	UTSW	15	85,816,617 (GRCm38)	missense	probably damaging	1.00
R3747:Pkdrej	UTSW	15	85,821,077 (GRCm38)	missense	probably damaging	0.96
R3748:Pkdrej	UTSW	15	85,821,077 (GRCm38)	missense	probably damaging	0.96
R3749:Pkdrej	UTSW	15	85,821,077 (GRCm38)	missense	probably damaging	0.96
R4028:Pkdrej	UTSW	15	85,817,492 (GRCm38)	missense	probably benign	0.02
R4169:Pkdrej	UTSW	15	85,816,314 (GRCm38)	missense	probably benign	0.24
R4241:Pkdrej	UTSW	15	85,818,144 (GRCm38)	missense	probably damaging	1.00
R4242:Pkdrej	UTSW	15	85,818,144 (GRCm38)	missense	probably damaging	1.00
R4705:Pkdrej	UTSW	15	85,821,167 (GRCm38)	nonsense	probably null
R4939:Pkdrej	UTSW	15	85,820,283 (GRCm38)	missense	possibly damaging	0.82
R4954:Pkdrej	UTSW	15	85,816,401 (GRCm38)	missense	probably damaging	0.99
R4974:Pkdrej	UTSW	15	85,820,409 (GRCm38)	missense	probably benign	0.00
R4982:Pkdrej	UTSW	15	85,818,996 (GRCm38)	missense	probably damaging	0.99
R5105:Pkdrej	UTSW	15	85,816,384 (GRCm38)	missense	probably damaging	1.00
R5270:Pkdrej	UTSW	15	85,818,327 (GRCm38)	missense	probably damaging	1.00
R5631:Pkdrej	UTSW	15	85,820,437 (GRCm38)	missense	probably benign
R5909:Pkdrej	UTSW	15	85,818,296 (GRCm38)	missense	possibly damaging	0.82
R5998:Pkdrej	UTSW	15	85,815,453 (GRCm38)	missense	probably benign	0.01
R6037:Pkdrej	UTSW	15	85,819,766 (GRCm38)	missense	probably damaging	0.99
R6037:Pkdrej	UTSW	15	85,819,766 (GRCm38)	missense	probably damaging	0.99
R6125:Pkdrej	UTSW	15	85,816,384 (GRCm38)	missense	probably damaging	1.00
R6270:Pkdrej	UTSW	15	85,821,105 (GRCm38)	nonsense	probably null
R6500:Pkdrej	UTSW	15	85,819,546 (GRCm38)	missense	probably damaging	0.98
R6776:Pkdrej	UTSW	15	85,817,309 (GRCm38)	nonsense	probably null
R6786:Pkdrej	UTSW	15	85,818,649 (GRCm38)	missense	probably benign
R6866:Pkdrej	UTSW	15	85,820,881 (GRCm38)	missense	probably damaging	1.00
R6954:Pkdrej	UTSW	15	85,817,853 (GRCm38)	nonsense	probably null
R7086:Pkdrej	UTSW	15	85,820,116 (GRCm38)	missense	probably damaging	1.00
R7231:Pkdrej	UTSW	15	85,816,188 (GRCm38)	missense	possibly damaging	0.55
R7233:Pkdrej	UTSW	15	85,821,148 (GRCm38)	missense	probably damaging	0.96
R7289:Pkdrej	UTSW	15	85,821,100 (GRCm38)	missense	probably benign
R7549:Pkdrej	UTSW	15	85,819,793 (GRCm38)	missense	probably damaging	1.00
R7582:Pkdrej	UTSW	15	85,818,921 (GRCm38)	missense	possibly damaging	0.92
R7677:Pkdrej	UTSW	15	85,815,587 (GRCm38)	missense	probably benign	0.01
R7791:Pkdrej	UTSW	15	85,815,931 (GRCm38)	missense	possibly damaging	0.87
R7873:Pkdrej	UTSW	15	85,816,523 (GRCm38)	missense	probably benign	0.29
R8121:Pkdrej	UTSW	15	85,815,454 (GRCm38)	missense	probably benign	0.00
R8140:Pkdrej	UTSW	15	85,818,410 (GRCm38)	missense	probably damaging	1.00
R8219:Pkdrej	UTSW	15	85,821,292 (GRCm38)	missense	probably damaging	0.99
R8222:Pkdrej	UTSW	15	85,817,439 (GRCm38)	missense	probably benign
R8432:Pkdrej	UTSW	15	85,817,293 (GRCm38)	missense	probably benign	0.00
R8755:Pkdrej	UTSW	15	85,819,606 (GRCm38)	missense	probably benign	0.00
R8786:Pkdrej	UTSW	15	85,819,843 (GRCm38)	missense	probably benign	0.01
R8817:Pkdrej	UTSW	15	85,818,573 (GRCm38)	missense	probably damaging	1.00
R8827:Pkdrej	UTSW	15	85,815,531 (GRCm38)	missense	possibly damaging	0.76
R8966:Pkdrej	UTSW	15	85,817,811 (GRCm38)	missense	probably damaging	0.99
R8988:Pkdrej	UTSW	15	85,816,337 (GRCm38)	missense	probably damaging	0.99
R9028:Pkdrej	UTSW	15	85,816,897 (GRCm38)	missense	probably damaging	1.00
R9257:Pkdrej	UTSW	15	85,815,897 (GRCm38)	missense	probably damaging	1.00
R9279:Pkdrej	UTSW	15	85,816,633 (GRCm38)	missense	probably damaging	1.00
R9404:Pkdrej	UTSW	15	85,819,069 (GRCm38)	missense	probably benign	0.39
R9433:Pkdrej	UTSW	15	85,819,869 (GRCm38)	missense	probably benign	0.03
R9454:Pkdrej	UTSW	15	85,818,219 (GRCm38)	missense	probably benign	0.05
R9479:Pkdrej	UTSW	15	85,815,370 (GRCm38)	missense	possibly damaging	0.64
R9720:Pkdrej	UTSW	15	85,818,296 (GRCm38)	missense	possibly damaging	0.82
R9748:Pkdrej	UTSW	15	85,820,670 (GRCm38)	missense	possibly damaging	0.91
R9760:Pkdrej	UTSW	15	85,821,067 (GRCm38)	missense	probably benign	0.30
Z1177:Pkdrej	UTSW	15	85,816,537 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACCGATGGCGAATAAACTGG -3'
(R):5'- CAATAGAGTGGCTCTTTGCGTC -3'

Sequencing Primer
(F):5'- AACTGGTTATAGTAGAAGCTGTCG -3'
(R):5'- GTCGTTCTGTTCCTTCTGTCAG -3'

Posted On

2016-07-22