Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02883:Pkd1l2'

362864

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pkd1l2

Ensembl Gene

ENSMUSG00000034416

Gene Name

polycystic kidney disease 1 like 2

Synonyms

1700126L06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02883

Quality Score

Status

Chromosome

Chromosomal Location

117722418-117809188 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 117792484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 436 (T436I)

Ref Sequence

ENSEMBL: ENSMUSP00000104721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098375] [ENSMUST00000109093]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000098375
AA Change: T436I

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000095977
Gene: ENSMUSG00000034416
AA Change: T436I

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
CLECT	26	152	1.56e-21	SMART
Pfam:Gal_Lectin	168	250	1.8e-18	PFAM
PKD	260	341	3.84e-1	SMART
low complexity region	496	507	N/A	INTRINSIC
Pfam:REJ	510	886	1.8e-13	PFAM
low complexity region	1050	1060	N/A	INTRINSIC
GPS	1278	1327	1.61e-11	SMART
transmembrane domain	1346	1365	N/A	INTRINSIC
LH2	1390	1509	6.05e-13	SMART
transmembrane domain	1552	1574	N/A	INTRINSIC
transmembrane domain	1589	1611	N/A	INTRINSIC
transmembrane domain	1815	1837	N/A	INTRINSIC
transmembrane domain	1852	1874	N/A	INTRINSIC
transmembrane domain	1940	1962	N/A	INTRINSIC
Pfam:PKD_channel	1980	2403	6.4e-107	PFAM
Pfam:Ion_trans	2187	2396	2.5e-12	PFAM
low complexity region	2441	2458	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109093
AA Change: T436I

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000104721
Gene: ENSMUSG00000034416
AA Change: T436I

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
CLECT	26	152	1.56e-21	SMART
Pfam:Gal_Lectin	168	250	6.9e-19	PFAM
PKD	260	341	3.84e-1	SMART
low complexity region	496	507	N/A	INTRINSIC
Pfam:REJ	519	883	7e-11	PFAM
low complexity region	1051	1061	N/A	INTRINSIC
GPS	1279	1328	1.61e-11	SMART
transmembrane domain	1347	1366	N/A	INTRINSIC
LH2	1391	1510	6.05e-13	SMART
transmembrane domain	1553	1575	N/A	INTRINSIC
transmembrane domain	1590	1612	N/A	INTRINSIC
transmembrane domain	1816	1838	N/A	INTRINSIC
transmembrane domain	1853	1875	N/A	INTRINSIC
transmembrane domain	1941	1963	N/A	INTRINSIC
Pfam:PKD_channel	1981	2403	5.9e-106	PFAM
Pfam:Ion_trans	2138	2409	3.4e-12	PFAM
low complexity region	2442	2459	N/A	INTRINSIC

Meta Mutation Damage Score

0.0717

Coding Region Coverage

Validation Efficiency

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 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,766,972 (GRCm39)	S186R	possibly damaging	Het
Acap2	A	G	16: 30,915,163 (GRCm39)		probably benign	Het
Cacna1h	G	T	17: 25,599,506 (GRCm39)	R1726S	probably damaging	Het
Cdca2	T	C	14: 67,944,946 (GRCm39)	S133G	probably damaging	Het
Cep295nl	A	T	11: 118,224,735 (GRCm39)	S36R	probably benign	Het
Crispld1	A	G	1: 17,817,013 (GRCm39)	N190S	possibly damaging	Het
Crtam	A	G	9: 40,905,797 (GRCm39)	V44A	probably benign	Het
Crtc1	C	T	8: 70,858,775 (GRCm39)	G112S	probably benign	Het
Cyp17a1	T	C	19: 46,657,790 (GRCm39)	N254S	probably benign	Het
Dmrta1	T	C	4: 89,577,011 (GRCm39)	S156P	probably benign	Het
Eno2	A	C	6: 124,743,172 (GRCm39)	V188G	probably damaging	Het
Fam20a	A	T	11: 109,565,953 (GRCm39)	I427N	probably damaging	Het
Fat2	T	C	11: 55,147,444 (GRCm39)	K3933E	probably benign	Het
Igkv8-30	T	C	6: 70,094,601 (GRCm39)	M1V	probably null	Het
Ist1	G	A	8: 110,410,300 (GRCm39)		probably benign	Het
Kank4	T	C	4: 98,661,690 (GRCm39)	E765G	possibly damaging	Het
Kat14	T	C	2: 144,235,449 (GRCm39)	L92S	probably damaging	Het
Kcnu1	G	A	8: 26,339,855 (GRCm39)	V58I	probably benign	Het
Lrba	T	A	3: 86,261,513 (GRCm39)	V1489E	probably damaging	Het
Lrba	T	A	3: 86,352,720 (GRCm39)	I1956N	probably damaging	Het
Mdn1	G	A	4: 32,763,199 (GRCm39)	V5100I	probably benign	Het
Mkrn2os	C	A	6: 115,563,670 (GRCm39)	G122*	probably null	Het
Nme3	T	C	17: 25,115,880 (GRCm39)	Y78H	probably benign	Het
Pira13	A	G	7: 3,825,179 (GRCm39)	S488P	possibly damaging	Het
Ppp2r5c	T	G	12: 110,488,997 (GRCm39)	V56G	possibly damaging	Het
Pramel16	T	C	4: 143,676,418 (GRCm39)	T229A	possibly damaging	Het
Prdm10	G	A	9: 31,238,644 (GRCm39)	V179M	probably damaging	Het
Rab11fip2	A	G	19: 59,895,430 (GRCm39)	V344A	probably damaging	Het
Selp	G	A	1: 163,957,671 (GRCm39)	A267T	probably benign	Het
Sf3a1	T	A	11: 4,129,192 (GRCm39)	W718R	probably damaging	Het
Taar9	T	C	10: 23,985,378 (GRCm39)	N19D	probably benign	Het
Tas2r113	T	G	6: 132,870,382 (GRCm39)	S137A	probably damaging	Het
Traf4	A	T	11: 78,052,447 (GRCm39)	I66N	possibly damaging	Het
Ucp3	A	T	7: 100,129,849 (GRCm39)	T164S	probably benign	Het
Uggt1	A	T	1: 36,216,696 (GRCm39)	N96K	probably benign	Het
Uqcc1	T	A	2: 155,753,749 (GRCm39)	Q42L	possibly damaging	Het
Vmn1r128	A	G	7: 21,083,440 (GRCm39)	K48R	probably benign	Het

Other mutations in Pkd1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01338:Pkd1l2	APN	8	117,786,259 (GRCm39)	nonsense	probably null
IGL01353:Pkd1l2	APN	8	117,784,182 (GRCm39)	missense	probably benign	0.24
IGL01362:Pkd1l2	APN	8	117,748,595 (GRCm39)	missense	probably damaging	1.00
IGL01486:Pkd1l2	APN	8	117,786,331 (GRCm39)	missense	probably benign
IGL01672:Pkd1l2	APN	8	117,807,471 (GRCm39)	missense	possibly damaging	0.94
IGL01696:Pkd1l2	APN	8	117,783,126 (GRCm39)	missense	probably benign	0.12
IGL01819:Pkd1l2	APN	8	117,724,913 (GRCm39)	missense	probably damaging	1.00
IGL01833:Pkd1l2	APN	8	117,787,264 (GRCm39)	missense	probably benign	0.00
IGL01981:Pkd1l2	APN	8	117,743,655 (GRCm39)	missense	probably benign	0.04
IGL02066:Pkd1l2	APN	8	117,736,303 (GRCm39)	splice site	probably benign
IGL02381:Pkd1l2	APN	8	117,762,539 (GRCm39)	splice site	probably benign
IGL02416:Pkd1l2	APN	8	117,767,574 (GRCm39)	missense	possibly damaging	0.82
IGL02736:Pkd1l2	APN	8	117,767,405 (GRCm39)	missense	probably benign	0.00
IGL02828:Pkd1l2	APN	8	117,756,298 (GRCm39)	missense	probably benign
IGL02861:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL02862:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL02884:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL02894:Pkd1l2	APN	8	117,740,630 (GRCm39)	missense	probably damaging	0.97
IGL02900:Pkd1l2	APN	8	117,750,830 (GRCm39)	missense	probably benign	0.03
IGL02901:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL02929:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL02941:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL02957:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL02969:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03028:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03059:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03065:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03066:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03083:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03084:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03124:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03162:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03165:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03335:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03357:Pkd1l2	APN	8	117,722,548 (GRCm39)	missense	probably damaging	1.00
IGL02835:Pkd1l2	UTSW	8	117,792,484 (GRCm39)	missense	probably benign	0.07
PIT4453001:Pkd1l2	UTSW	8	117,748,761 (GRCm39)	missense	probably benign	0.00
R0127:Pkd1l2	UTSW	8	117,776,787 (GRCm39)	splice site	probably benign
R0309:Pkd1l2	UTSW	8	117,724,315 (GRCm39)	missense	probably damaging	0.99
R0365:Pkd1l2	UTSW	8	117,748,589 (GRCm39)	missense	probably benign	0.02
R0526:Pkd1l2	UTSW	8	117,808,999 (GRCm39)	missense	probably damaging	1.00
R0571:Pkd1l2	UTSW	8	117,808,957 (GRCm39)	missense	probably benign	0.01
R0716:Pkd1l2	UTSW	8	117,777,839 (GRCm39)	missense	probably damaging	1.00
R0787:Pkd1l2	UTSW	8	117,802,916 (GRCm39)	missense	possibly damaging	0.90
R0893:Pkd1l2	UTSW	8	117,771,231 (GRCm39)	missense	probably damaging	0.99
R1256:Pkd1l2	UTSW	8	117,746,282 (GRCm39)	critical splice acceptor site	probably null
R1391:Pkd1l2	UTSW	8	117,781,673 (GRCm39)	missense	possibly damaging	0.87
R1474:Pkd1l2	UTSW	8	117,792,236 (GRCm39)	splice site	probably benign
R1491:Pkd1l2	UTSW	8	117,755,147 (GRCm39)	missense	probably damaging	1.00
R1520:Pkd1l2	UTSW	8	117,772,898 (GRCm39)	missense	probably benign	0.00
R1521:Pkd1l2	UTSW	8	117,792,239 (GRCm39)	splice site	probably null
R1544:Pkd1l2	UTSW	8	117,764,974 (GRCm39)	frame shift	probably null
R1558:Pkd1l2	UTSW	8	117,808,991 (GRCm39)	missense	possibly damaging	0.94
R1673:Pkd1l2	UTSW	8	117,767,514 (GRCm39)	missense	probably benign	0.00
R1691:Pkd1l2	UTSW	8	117,783,158 (GRCm39)	missense	possibly damaging	0.60
R1754:Pkd1l2	UTSW	8	117,757,458 (GRCm39)	missense	possibly damaging	0.81
R1857:Pkd1l2	UTSW	8	117,767,408 (GRCm39)	missense	possibly damaging	0.70
R1939:Pkd1l2	UTSW	8	117,772,921 (GRCm39)	nonsense	probably null
R1955:Pkd1l2	UTSW	8	117,770,100 (GRCm39)	missense	probably benign
R1957:Pkd1l2	UTSW	8	117,757,421 (GRCm39)	missense	probably damaging	1.00
R1959:Pkd1l2	UTSW	8	117,769,970 (GRCm39)	critical splice donor site	probably null
R2024:Pkd1l2	UTSW	8	117,746,272 (GRCm39)	missense	probably benign
R2046:Pkd1l2	UTSW	8	117,726,694 (GRCm39)	missense	probably damaging	1.00
R2102:Pkd1l2	UTSW	8	117,808,208 (GRCm39)	missense	probably damaging	0.98
R2116:Pkd1l2	UTSW	8	117,757,461 (GRCm39)	missense	possibly damaging	0.93
R2148:Pkd1l2	UTSW	8	117,783,064 (GRCm39)	missense	probably damaging	0.98
R2251:Pkd1l2	UTSW	8	117,784,177 (GRCm39)	missense	probably damaging	1.00
R2252:Pkd1l2	UTSW	8	117,784,177 (GRCm39)	missense	probably damaging	1.00
R2366:Pkd1l2	UTSW	8	117,770,056 (GRCm39)	missense	probably benign	0.01
R2566:Pkd1l2	UTSW	8	117,746,233 (GRCm39)	missense	probably damaging	1.00
R2872:Pkd1l2	UTSW	8	117,764,903 (GRCm39)	missense	probably benign	0.10
R2872:Pkd1l2	UTSW	8	117,764,903 (GRCm39)	missense	probably benign	0.10
R2985:Pkd1l2	UTSW	8	117,792,290 (GRCm39)	missense	probably benign	0.00
R3055:Pkd1l2	UTSW	8	117,795,054 (GRCm39)	critical splice acceptor site	probably null
R3436:Pkd1l2	UTSW	8	117,767,478 (GRCm39)	missense	probably benign	0.01
R4732:Pkd1l2	UTSW	8	117,722,581 (GRCm39)	critical splice acceptor site	probably null
R4733:Pkd1l2	UTSW	8	117,722,581 (GRCm39)	critical splice acceptor site	probably null
R4763:Pkd1l2	UTSW	8	117,746,168 (GRCm39)	missense	probably damaging	0.96
R4789:Pkd1l2	UTSW	8	117,738,314 (GRCm39)	missense	probably damaging	0.99
R4921:Pkd1l2	UTSW	8	117,781,624 (GRCm39)	missense	probably benign	0.03
R4921:Pkd1l2	UTSW	8	117,799,288 (GRCm39)	missense	probably damaging	0.97
R4999:Pkd1l2	UTSW	8	117,774,113 (GRCm39)	splice site	probably null
R5057:Pkd1l2	UTSW	8	117,781,747 (GRCm39)	missense	probably benign	0.21
R5209:Pkd1l2	UTSW	8	117,783,181 (GRCm39)	missense	probably benign	0.23
R5241:Pkd1l2	UTSW	8	117,761,857 (GRCm39)	missense	probably damaging	1.00
R5480:Pkd1l2	UTSW	8	117,757,388 (GRCm39)	missense	probably damaging	0.99
R5501:Pkd1l2	UTSW	8	117,792,569 (GRCm39)	missense	probably damaging	0.98
R5533:Pkd1l2	UTSW	8	117,794,855 (GRCm39)	missense	probably benign	0.03
R5582:Pkd1l2	UTSW	8	117,767,522 (GRCm39)	nonsense	probably null
R5610:Pkd1l2	UTSW	8	117,769,059 (GRCm39)	missense	probably benign	0.04
R5770:Pkd1l2	UTSW	8	117,781,757 (GRCm39)	missense	probably damaging	1.00
R5854:Pkd1l2	UTSW	8	117,792,485 (GRCm39)	missense	possibly damaging	0.48
R5867:Pkd1l2	UTSW	8	117,781,750 (GRCm39)	missense	probably damaging	0.96
R5881:Pkd1l2	UTSW	8	117,724,321 (GRCm39)	missense	probably damaging	0.99
R5906:Pkd1l2	UTSW	8	117,756,387 (GRCm39)	missense	probably damaging	1.00
R5909:Pkd1l2	UTSW	8	117,750,795 (GRCm39)	missense	probably benign	0.00
R6030:Pkd1l2	UTSW	8	117,769,976 (GRCm39)	missense	probably damaging	1.00
R6030:Pkd1l2	UTSW	8	117,769,976 (GRCm39)	missense	probably damaging	1.00
R6084:Pkd1l2	UTSW	8	117,740,726 (GRCm39)	missense	probably damaging	1.00
R6122:Pkd1l2	UTSW	8	117,809,107 (GRCm39)	missense	probably benign	0.02
R6216:Pkd1l2	UTSW	8	117,808,209 (GRCm39)	missense	probably damaging	1.00
R6406:Pkd1l2	UTSW	8	117,762,586 (GRCm39)	missense	probably damaging	0.99
R6417:Pkd1l2	UTSW	8	117,740,638 (GRCm39)	missense	probably damaging	1.00
R6420:Pkd1l2	UTSW	8	117,740,638 (GRCm39)	missense	probably damaging	1.00
R6601:Pkd1l2	UTSW	8	117,767,405 (GRCm39)	missense	probably benign	0.00
R6743:Pkd1l2	UTSW	8	117,757,370 (GRCm39)	missense	probably damaging	1.00
R7053:Pkd1l2	UTSW	8	117,740,681 (GRCm39)	missense	probably damaging	1.00
R7144:Pkd1l2	UTSW	8	117,802,870 (GRCm39)	nonsense	probably null
R7148:Pkd1l2	UTSW	8	117,807,525 (GRCm39)	missense	probably benign	0.00
R7169:Pkd1l2	UTSW	8	117,767,574 (GRCm39)	missense	possibly damaging	0.82
R7217:Pkd1l2	UTSW	8	117,722,536 (GRCm39)	missense	probably benign	0.24
R7310:Pkd1l2	UTSW	8	117,750,773 (GRCm39)	missense	probably benign
R7382:Pkd1l2	UTSW	8	117,781,610 (GRCm39)	missense	possibly damaging	0.95
R7397:Pkd1l2	UTSW	8	117,762,641 (GRCm39)	missense	possibly damaging	0.94
R7408:Pkd1l2	UTSW	8	117,755,218 (GRCm39)	missense	possibly damaging	0.77
R7437:Pkd1l2	UTSW	8	117,757,421 (GRCm39)	missense	probably damaging	0.96
R7492:Pkd1l2	UTSW	8	117,794,849 (GRCm39)	missense	probably damaging	1.00
R7496:Pkd1l2	UTSW	8	117,787,333 (GRCm39)	missense	possibly damaging	0.89
R7519:Pkd1l2	UTSW	8	117,792,268 (GRCm39)	missense	probably benign
R7590:Pkd1l2	UTSW	8	117,807,525 (GRCm39)	missense	probably benign	0.00
R7623:Pkd1l2	UTSW	8	117,756,384 (GRCm39)	missense	probably damaging	1.00
R7768:Pkd1l2	UTSW	8	117,781,599 (GRCm39)	critical splice donor site	probably null
R7897:Pkd1l2	UTSW	8	117,724,827 (GRCm39)	missense	possibly damaging	0.69
R7982:Pkd1l2	UTSW	8	117,777,926 (GRCm39)	missense	possibly damaging	0.70
R8024:Pkd1l2	UTSW	8	117,802,921 (GRCm39)	missense	possibly damaging	0.85
R8140:Pkd1l2	UTSW	8	117,774,236 (GRCm39)	missense	probably benign
R8145:Pkd1l2	UTSW	8	117,781,742 (GRCm39)	missense	probably benign
R8228:Pkd1l2	UTSW	8	117,792,514 (GRCm39)	missense	probably damaging	0.97
R8252:Pkd1l2	UTSW	8	117,767,472 (GRCm39)	missense	probably benign	0.29
R8500:Pkd1l2	UTSW	8	117,774,302 (GRCm39)	critical splice acceptor site	probably null
R8732:Pkd1l2	UTSW	8	117,792,311 (GRCm39)	missense	probably benign	0.28
R8809:Pkd1l2	UTSW	8	117,726,660 (GRCm39)	missense	probably damaging	1.00
R8896:Pkd1l2	UTSW	8	117,740,615 (GRCm39)	missense	possibly damaging	0.91
R8961:Pkd1l2	UTSW	8	117,726,717 (GRCm39)	missense	possibly damaging	0.52
R8985:Pkd1l2	UTSW	8	117,764,849 (GRCm39)	missense	probably benign	0.01
R9008:Pkd1l2	UTSW	8	117,769,037 (GRCm39)	missense	probably benign	0.32
R9091:Pkd1l2	UTSW	8	117,759,433 (GRCm39)	missense	probably damaging	1.00
R9138:Pkd1l2	UTSW	8	117,781,748 (GRCm39)	missense	probably benign	0.43
R9160:Pkd1l2	UTSW	8	117,767,408 (GRCm39)	missense	possibly damaging	0.70
R9249:Pkd1l2	UTSW	8	117,746,159 (GRCm39)	missense	probably damaging	0.99
R9270:Pkd1l2	UTSW	8	117,759,433 (GRCm39)	missense	probably damaging	1.00
R9735:Pkd1l2	UTSW	8	117,772,820 (GRCm39)	missense	possibly damaging	0.94
Z1176:Pkd1l2	UTSW	8	117,781,653 (GRCm39)	missense	probably damaging	1.00
Z1177:Pkd1l2	UTSW	8	117,757,430 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18