Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02167:Prrt1'

282759

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prrt1

Ensembl Gene

ENSMUSG00000015476

Gene Name

proline-rich transmembrane protein 1

Synonyms

SynDIG4, G5b, NG5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL02167

Quality Score

Status

Chromosome

Chromosomal Location

34848507-34852100 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 34850829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 215 (E215A)

Ref Sequence

ENSEMBL: ENSMUSP00000015620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015620] [ENSMUST00000064953] [ENSMUST00000166040] [ENSMUST00000167097] [ENSMUST00000168391] [ENSMUST00000169067] [ENSMUST00000171121] [ENSMUST00000170345] [ENSMUST00000171376] [ENSMUST00000169287]

AlphaFold

O35449

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015620
AA Change: E215A

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000015620
Gene: ENSMUSG00000015476
AA Change: E215A

Domain	Start	End	E-Value	Type
low complexity region	17	38	N/A	INTRINSIC
low complexity region	41	49	N/A	INTRINSIC
low complexity region	57	79	N/A	INTRINSIC
low complexity region	84	100	N/A	INTRINSIC
low complexity region	121	144	N/A	INTRINSIC
Pfam:CD225	214	286	3.5e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000064953

SMART Domains

Protein: ENSMUSP00000068071
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	297	2.2e-19	PFAM
Pfam:Abhydrolase_6	39	273	2.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166040

SMART Domains

Protein: ENSMUSP00000132006
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	289	9e-19	PFAM
Pfam:Abhydrolase_1	37	173	9e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167097

SMART Domains

Protein: ENSMUSP00000125937
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	236	7.7e-12	PFAM
Pfam:Abhydrolase_6	39	236	2.1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168391

SMART Domains

Protein: ENSMUSP00000132339
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	297	2.2e-19	PFAM
Pfam:Abhydrolase_6	39	273	2.5e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168709

Predicted Effect

probably benign
Transcript: ENSMUST00000169067

SMART Domains

Protein: ENSMUSP00000127372
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	297	2.2e-19	PFAM
Pfam:Abhydrolase_6	39	273	2.5e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172945

Predicted Effect

probably benign
Transcript: ENSMUST00000171121

SMART Domains

Protein: ENSMUSP00000127745
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	297	2.2e-19	PFAM
Pfam:Abhydrolase_6	39	273	2.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170345

SMART Domains

Protein: ENSMUSP00000127707
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	33	203	1.6e-9	PFAM
Pfam:Abhydrolase_6	39	201	2.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171376

SMART Domains

Protein: ENSMUSP00000131243
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	9	31	N/A	INTRINSIC
Pfam:Palm_thioest	34	297	2.2e-19	PFAM
Pfam:Abhydrolase_6	39	273	2.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169287

SMART Domains

Protein: ENSMUSP00000129421
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
PDB:1PJA\|A	1	102	2e-42	PDB
SCOP:d1fj2a_	29	91	7e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169969

SMART Domains

Protein: ENSMUSP00000127726
Gene: ENSMUSG00000015474

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
Pfam:Abhydrolase_1	18	139	9e-8	PFAM
Pfam:Palm_thioest	116	234	1.5e-12	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced mEPSC, reduced LTP, impaired spatial learning, decreased object recognition and increased exploration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,122,721 (GRCm39)		probably benign	Het
Cacna1f	T	C	X: 7,482,258 (GRCm39)	Y581H	probably damaging	Het
Camsap1	C	T	2: 25,824,312 (GRCm39)	R1416H	probably damaging	Het
Ccdc117	T	C	11: 5,481,333 (GRCm39)	E266G	possibly damaging	Het
Ccdc9	A	T	7: 16,018,284 (GRCm39)	L8*	probably null	Het
Cited2	T	C	10: 17,600,018 (GRCm39)	S109P	probably benign	Het
Cnot4	T	C	6: 35,033,159 (GRCm39)	D286G	possibly damaging	Het
Col5a1	T	C	2: 27,908,568 (GRCm39)	I52T	probably benign	Het
Cry2	T	C	2: 92,264,166 (GRCm39)	N68S	possibly damaging	Het
Cul4a	T	C	8: 13,172,826 (GRCm39)	F153S	probably damaging	Het
Ddr1	T	C	17: 36,000,963 (GRCm39)	S261G	possibly damaging	Het
Depdc5	G	A	5: 33,061,145 (GRCm39)	R324Q	probably damaging	Het
Dmgdh	A	G	13: 93,857,135 (GRCm39)		probably benign	Het
Epha8	A	T	4: 136,658,405 (GRCm39)	M990K	probably damaging	Het
Gpr137c	G	T	14: 45,517,412 (GRCm39)	G383C	probably damaging	Het
Hydin	T	A	8: 111,145,055 (GRCm39)	I802N	possibly damaging	Het
Ifne	A	G	4: 88,798,065 (GRCm39)	Y118H	possibly damaging	Het
Kansl2	T	C	15: 98,431,396 (GRCm39)		probably benign	Het
Lig4	T	A	8: 10,021,821 (GRCm39)	N653I	probably benign	Het
Nagk	A	G	6: 83,778,088 (GRCm39)	D246G	probably damaging	Het
Nav1	A	G	1: 135,398,699 (GRCm39)	S628P	probably damaging	Het
Ncoa3	A	G	2: 165,912,056 (GRCm39)	Y1401C	probably damaging	Het
Ndufa9	A	G	6: 126,821,748 (GRCm39)		probably benign	Het
Nynrin	G	T	14: 56,100,792 (GRCm39)	R194L	probably damaging	Het
Or10a4	A	T	7: 106,696,868 (GRCm39)	R65S	probably benign	Het
Or10ag53	G	A	2: 87,082,542 (GRCm39)	C87Y	probably benign	Het
Or13a17	T	A	7: 140,271,664 (GRCm39)	V282D	probably damaging	Het
Orc2	A	T	1: 58,522,798 (GRCm39)		probably benign	Het
Oxgr1	T	A	14: 120,259,342 (GRCm39)	R288S	probably damaging	Het
Pgap6	T	C	17: 26,338,045 (GRCm39)	S450P	probably damaging	Het
Prkcg	T	C	7: 3,371,097 (GRCm39)		probably null	Het
Prox1	T	C	1: 189,893,477 (GRCm39)	N323D	probably benign	Het
Rab2b	T	C	14: 52,506,153 (GRCm39)	D103G	probably damaging	Het
Sardh	G	T	2: 27,081,987 (GRCm39)	N846K	probably damaging	Het
Slc38a8	T	A	8: 120,214,099 (GRCm39)	T248S	probably benign	Het
Slc6a18	T	C	13: 73,814,591 (GRCm39)		probably null	Het
Smcp	T	C	3: 92,491,506 (GRCm39)	T114A	unknown	Het
Trpv1	A	G	11: 73,145,623 (GRCm39)	N754D	probably damaging	Het
Txnrd1	A	T	10: 82,717,745 (GRCm39)	H243L	probably benign	Het
Wdfy3	T	C	5: 102,109,023 (GRCm39)	M125V	probably damaging	Het
Wnk2	T	C	13: 49,224,601 (GRCm39)		probably null	Het
Wrn	T	C	8: 33,807,583 (GRCm39)	M292V	probably damaging	Het
Zbtb17	T	C	4: 141,189,140 (GRCm39)	L20P	possibly damaging	Het
Zfp608	T	C	18: 55,121,296 (GRCm39)	H97R	probably damaging	Het
Zfp68	T	A	5: 138,604,629 (GRCm39)	M565L	probably benign	Het
Zfp687	T	C	3: 94,917,841 (GRCm39)	T644A	probably benign	Het
Zfp777	C	T	6: 48,021,460 (GRCm39)	G54D	probably damaging	Het

Other mutations in Prrt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1872:Prrt1	UTSW	17	34,849,925 (GRCm39)	missense	probably damaging	1.00
R5789:Prrt1	UTSW	17	34,850,931 (GRCm39)	critical splice donor site	probably null
R7139:Prrt1	UTSW	17	34,850,051 (GRCm39)	missense	probably benign	0.04
R7215:Prrt1	UTSW	17	34,848,677 (GRCm39)	splice site	probably null
R7325:Prrt1	UTSW	17	34,851,161 (GRCm39)	missense	possibly damaging	0.95
R9258:Prrt1	UTSW	17	34,850,120 (GRCm39)	missense	probably damaging	1.00
R9260:Prrt1	UTSW	17	34,850,120 (GRCm39)	missense	probably damaging	1.00
Z1176:Prrt1	UTSW	17	34,849,807 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16