Mutagenetix > Incidental Mutation

Incidental Mutation 'R8978:Prickle4'

716018

Institutional Source

Beutler Lab

Gene Symbol

Prickle4

Ensembl Gene

ENSMUSG00000096549

Gene Name

prickle planar cell polarity protein 4

Synonyms

LOC381104

MMRRC Submission

068811-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8978 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47999442-48005661 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 47999772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024779] [ENSMUST00000113299] [ENSMUST00000113300] [ENSMUST00000113301] [ENSMUST00000113302] [ENSMUST00000132397] [ENSMUST00000143789] [ENSMUST00000156118]

AlphaFold

F6ZPB0

Predicted Effect

probably benign
Transcript: ENSMUST00000024779

SMART Domains

Protein: ENSMUSP00000024779
Gene: ENSMUSG00000090115

Domain	Start	End	E-Value	Type
ZnF_UBP	25	74	4.21e-17	SMART
coiled coil region	165	203	N/A	INTRINSIC
low complexity region	224	237	N/A	INTRINSIC
Pfam:UCH	249	651	5.4e-61	PFAM
Pfam:UCH_1	337	633	3.8e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113299

SMART Domains

Protein: ENSMUSP00000108924
Gene: ENSMUSG00000096549

Domain	Start	End	E-Value	Type
Pfam:PET	22	74	2.7e-13	PFAM
LIM	83	140	1.56e-7	SMART
LIM	148	200	1.28e-12	SMART
low complexity region	207	221	N/A	INTRINSIC
low complexity region	282	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113300

SMART Domains

Protein: ENSMUSP00000108925
Gene: ENSMUSG00000096549

Domain	Start	End	E-Value	Type
Pfam:PET	62	114	6e-13	PFAM
LIM	123	180	1.56e-7	SMART
LIM	188	240	1.28e-12	SMART
low complexity region	247	261	N/A	INTRINSIC
low complexity region	322	336	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113301

SMART Domains

Protein: ENSMUSP00000108926
Gene: ENSMUSG00000033475

Domain	Start	End	E-Value	Type
Pfam:TOMM6	1	74	4.1e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113302

SMART Domains

Protein: ENSMUSP00000108927
Gene: ENSMUSG00000033475

Domain	Start	End	E-Value	Type
Pfam:TOM6p	1	74	5.2e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132397

SMART Domains

Protein: ENSMUSP00000117658
Gene: ENSMUSG00000023984

Domain	Start	End	E-Value	Type
Pfam:Med20	1	149	1.6e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143789

SMART Domains

Protein: ENSMUSP00000119045
Gene: ENSMUSG00000079444

Domain	Start	End	E-Value	Type
Pfam:PET	66	116	8.6e-12	PFAM
LIM	123	180	1.56e-7	SMART
LIM	188	240	1.28e-12	SMART
low complexity region	247	261	N/A	INTRINSIC
low complexity region	322	336	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152214

SMART Domains

Protein: ENSMUSP00000121465
Gene: ENSMUSG00000096549

Domain	Start	End	E-Value	Type
Pfam:PET	3	50	7.4e-14	PFAM
LIM	59	116	1.56e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156118

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

99% (66/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] C6ORF49 is a member of the LIM domain protein family (Teufel et al., 2005 [PubMed 15702247]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,192,395 (GRCm39)	F224L	probably benign	Het
Adam39	A	G	8: 41,278,707 (GRCm39)	D366G	probably damaging	Het
Adamts14	T	A	10: 61,038,795 (GRCm39)	E902V	probably damaging	Het
Adamts6	T	C	13: 104,512,247 (GRCm39)	C490R	probably damaging	Het
Btbd3	T	C	2: 138,126,055 (GRCm39)	V413A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cdadc1	G	T	14: 59,813,197 (GRCm39)	N403K	probably damaging	Het
Cdc27	C	T	11: 104,399,211 (GRCm39)	V734I	possibly damaging	Het
Celf3	A	G	3: 94,392,667 (GRCm39)	D122G	probably benign	Het
Chgb	T	C	2: 132,634,498 (GRCm39)	S147P	probably benign	Het
Col9a1	G	A	1: 24,278,396 (GRCm39)	G808D	probably damaging	Het
Cpne7	A	G	8: 123,861,177 (GRCm39)		probably null	Het
Crhr1	T	C	11: 104,064,480 (GRCm39)	F330S	possibly damaging	Het
Csmd1	A	C	8: 15,971,056 (GRCm39)	N3086K	probably benign	Het
Ctnnb1	A	G	9: 120,786,650 (GRCm39)	D624G	probably damaging	Het
Dcaf8	G	A	1: 172,022,124 (GRCm39)	R554H	probably benign	Het
Dmbt1	T	C	7: 130,639,611 (GRCm39)	Y50H	possibly damaging	Het
Dmxl1	T	C	18: 50,055,679 (GRCm39)	L2573P	probably benign	Het
Ebf2	G	A	14: 67,661,548 (GRCm39)	G559S	probably benign	Het
Fancd2	A	G	6: 113,562,507 (GRCm39)		probably benign	Het
Fkbp10	A	T	11: 100,313,936 (GRCm39)	I427F	probably benign	Het
Gipc1	T	C	8: 84,389,046 (GRCm39)		probably null	Het
Gm1110	A	T	9: 26,807,095 (GRCm39)		probably benign	Het
Gsdmc3	A	G	15: 63,731,455 (GRCm39)	L359P	probably damaging	Het
Hspg2	A	G	4: 137,291,341 (GRCm39)	D3897G	probably benign	Het
Ift122	T	A	6: 115,902,769 (GRCm39)	M1117K	possibly damaging	Het
Itgbl1	A	T	14: 124,209,617 (GRCm39)	D456V	probably damaging	Het
Itprid2	T	A	2: 79,491,257 (GRCm39)	L1014Q	probably damaging	Het
Kctd1	G	T	18: 15,119,491 (GRCm39)	L675I		Het
Kyat3	C	T	3: 142,443,596 (GRCm39)	T403M	probably benign	Het
Ltbp2	T	C	12: 84,834,164 (GRCm39)	T1442A	probably benign	Het
Mier2	A	C	10: 79,376,790 (GRCm39)	S45R	unknown	Het
Mon2	T	A	10: 122,871,469 (GRCm39)	K383*	probably null	Het
Mroh4	G	T	15: 74,499,473 (GRCm39)	T136K	probably benign	Het
Mtif3	A	T	5: 146,895,846 (GRCm39)	S80R	probably benign	Het
Myh2	A	C	11: 67,068,188 (GRCm39)	E272A	probably damaging	Het
Myh2	A	G	11: 67,080,323 (GRCm39)	Q1179R	probably damaging	Het
Nfatc3	G	A	8: 106,835,402 (GRCm39)	C916Y	probably benign	Het
Or13a17	A	T	7: 140,271,642 (GRCm39)	T275S	probably benign	Het
Or2w2	T	A	13: 21,758,279 (GRCm39)	T116S	probably benign	Het
Or7g21	T	A	9: 19,032,582 (GRCm39)	C107*	probably null	Het
Orc2	T	C	1: 58,511,499 (GRCm39)	D370G	possibly damaging	Het
Pate7	A	T	9: 35,688,069 (GRCm39)		probably benign	Het
Pcdhga6	T	A	18: 37,840,716 (GRCm39)	N145K	probably benign	Het
Pih1d2	A	G	9: 50,536,232 (GRCm39)	M296V	probably benign	Het
Rabl6	G	A	2: 25,477,541 (GRCm39)	P303L	probably damaging	Het
Rara	T	G	11: 98,862,595 (GRCm39)	I332S	probably damaging	Het
Reln	A	G	5: 22,090,512 (GRCm39)	F3449L	possibly damaging	Het
Rhoq	T	C	17: 87,271,767 (GRCm39)	L61P		Het
Rigi	A	G	4: 40,239,650 (GRCm39)	I16T	probably damaging	Het
Slc6a15	G	A	10: 103,230,953 (GRCm39)	W226*	probably null	Het
Spef2	A	T	15: 9,725,263 (GRCm39)	S165T	possibly damaging	Het
Stab2	T	C	10: 86,785,782 (GRCm39)	N620S	possibly damaging	Het
Suds3	A	G	5: 117,232,973 (GRCm39)		probably null	Het
Sult1b1	A	G	5: 87,682,900 (GRCm39)	I15T	possibly damaging	Het
Synm	C	A	7: 67,384,672 (GRCm39)	V997L	probably damaging	Het
Tgfbi	C	A	13: 56,778,391 (GRCm39)	D387E	probably benign	Het
Thrb	T	C	14: 17,981,886 (GRCm38)	C4R	possibly damaging	Het
Tk2	A	G	8: 104,957,809 (GRCm39)	V179A	possibly damaging	Het
Trim25	T	C	11: 88,907,027 (GRCm39)	V462A	probably benign	Het
Tub	T	C	7: 108,629,393 (GRCm39)	Y483H	probably damaging	Het
Vav1	A	G	17: 57,603,710 (GRCm39)	T131A	probably benign	Het
Vav1	A	G	17: 57,631,650 (GRCm39)	T781A	probably benign	Het
Zbtb34	A	G	2: 33,301,048 (GRCm39)	S498P	possibly damaging	Het
Zfp568	T	A	7: 29,716,683 (GRCm39)	H194Q	probably benign	Het
Zfp683	A	T	4: 133,781,239 (GRCm39)	Q18L	probably benign	Het

Other mutations in Prickle4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02059:Prickle4	APN	17	48,001,174 (GRCm39)	missense	probably damaging	0.99
R1225:Prickle4	UTSW	17	47,999,614 (GRCm39)	splice site	probably null
R1867:Prickle4	UTSW	17	48,001,044 (GRCm39)	missense	possibly damaging	0.88
R3950:Prickle4	UTSW	17	47,999,507 (GRCm39)	missense	probably benign	0.04
R4328:Prickle4	UTSW	17	47,999,543 (GRCm39)	missense	probably damaging	1.00
R4398:Prickle4	UTSW	17	48,001,456 (GRCm39)	intron	probably benign
R4890:Prickle4	UTSW	17	48,000,806 (GRCm39)	intron	probably benign
R5155:Prickle4	UTSW	17	48,000,982 (GRCm39)	critical splice donor site	probably null
R5801:Prickle4	UTSW	17	47,999,698 (GRCm39)	missense	possibly damaging	0.90
R6056:Prickle4	UTSW	17	48,001,135 (GRCm39)	missense	probably damaging	1.00
R6528:Prickle4	UTSW	17	48,000,258 (GRCm39)	nonsense	probably null
R8878:Prickle4	UTSW	17	48,001,587 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TTCCGACTCAGAGGAAGAGG -3'
(R):5'- CTCCAAAGGCCTCTTGAACC -3'

Sequencing Primer
(F):5'- GGGGCTGTCCTCTATGGG -3'
(R):5'- TCTTGAACCCACCCGGC -3'

Posted On

2022-06-24