Mutagenetix > Incidental Mutation

Incidental Mutation 'R5699:Prrt2'

446571

Institutional Source

Beutler Lab

Gene Symbol

Prrt2

Ensembl Gene

ENSMUSG00000045114

Gene Name

proline-rich transmembrane protein 2

Synonyms

1500031I19Rik

MMRRC Submission

043327-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5699 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126616703-126620383 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126617899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 345 (Y345F)

Ref Sequence

ENSEMBL: ENSMUSP00000124520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032916] [ENSMUST00000159916] [ENSMUST00000161931] [ENSMUST00000162069] [ENSMUST00000202045] [ENSMUST00000205568] [ENSMUST00000206416] [ENSMUST00000206254] [ENSMUST00000205461] [ENSMUST00000165096] [ENSMUST00000200948] [ENSMUST00000202624] [ENSMUST00000202798]

AlphaFold

E9PUL5

Predicted Effect

probably benign
Transcript: ENSMUST00000032916

SMART Domains

Protein: ENSMUSP00000032916
Gene: ENSMUSG00000030678

Domain	Start	End	E-Value	Type
low complexity region	59	82	N/A	INTRINSIC
low complexity region	90	126	N/A	INTRINSIC
low complexity region	130	179	N/A	INTRINSIC
ZnF_C2H2	190	212	4.11e-2	SMART
low complexity region	231	272	N/A	INTRINSIC
ZnF_C2H2	279	301	6.78e-3	SMART
ZnF_C2H2	307	329	4.87e-4	SMART
ZnF_C2H2	337	360	1.22e-4	SMART
ZnF_C2H2	366	388	1.79e-2	SMART
ZnF_C2H2	392	413	6.57e0	SMART
low complexity region	435	451	N/A	INTRINSIC
low complexity region	465	476	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000032918

SMART Domains

Protein: ENSMUSP00000032918
Gene: ENSMUSG00000030680

Domain	Start	End	E-Value	Type
low complexity region	64	77	N/A	INTRINSIC
Pfam:PAXIP1_C	85	217	7.2e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159916
AA Change: Y345F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000124520
Gene: ENSMUSG00000045114
AA Change: Y345F

Domain	Start	End	E-Value	Type
low complexity region	69	82	N/A	INTRINSIC
low complexity region	91	112	N/A	INTRINSIC
low complexity region	146	169	N/A	INTRINSIC
Pfam:CD225	263	337	3.8e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161728

Predicted Effect

probably benign
Transcript: ENSMUST00000161931

SMART Domains

Protein: ENSMUSP00000143833
Gene: ENSMUSG00000045114

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162069

SMART Domains

Protein: ENSMUSP00000123889
Gene: ENSMUSG00000030680

Domain	Start	End	E-Value	Type
Pfam:PAXIP1_C	1	55	2e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202045
AA Change: Y60F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144042
Gene: ENSMUSG00000045114
AA Change: Y60F

Domain	Start	End	E-Value	Type
Pfam:CD225	1	52	3.5e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201963

Predicted Effect

probably benign
Transcript: ENSMUST00000205568

Predicted Effect

probably benign
Transcript: ENSMUST00000206416

Predicted Effect

probably benign
Transcript: ENSMUST00000206254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202936

Predicted Effect

probably benign
Transcript: ENSMUST00000205461

Predicted Effect

probably benign
Transcript: ENSMUST00000201686

Predicted Effect

probably benign
Transcript: ENSMUST00000165096

SMART Domains

Protein: ENSMUSP00000127250
Gene: ENSMUSG00000030681

Domain	Start	End	E-Value	Type
Pfam:Vault	122	163	5.4e-18	PFAM
Pfam:Vault	175	215	7.7e-16	PFAM
Pfam:Vault	228	271	7.9e-14	PFAM
Pfam:Vault	333	377	2.8e-16	PFAM
Pfam:MVP_shoulder	528	656	5.9e-55	PFAM
low complexity region	707	720	N/A	INTRINSIC
low complexity region	733	749	N/A	INTRINSIC
low complexity region	751	761	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172958

SMART Domains

Protein: ENSMUSP00000134420
Gene: ENSMUSG00000092534

Domain	Start	End	E-Value	Type
Pfam:PAXIP1_C	1	72	1.7e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200948

SMART Domains

Protein: ENSMUSP00000144469
Gene: ENSMUSG00000030680

Domain	Start	End	E-Value	Type
low complexity region	64	77	N/A	INTRINSIC
Pfam:PAXIP1_C	85	217	7.2e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202624

SMART Domains

Protein: ENSMUSP00000144099
Gene: ENSMUSG00000107068

Domain	Start	End	E-Value	Type
low complexity region	64	77	N/A	INTRINSIC
Pfam:PAXIP1_C	85	176	5.9e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202798

SMART Domains

Protein: ENSMUSP00000144243
Gene: ENSMUSG00000107068

Domain	Start	End	E-Value	Type
low complexity region	64	77	N/A	INTRINSIC
Pfam:PAXIP1_C	85	217	7.2e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206953

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele develop paroxysmal movements (bouncing and back walking) at the onset of locomotion and exhibit wild running and jumping in response to audiogenic stimuli and an increased sensitivity to the convulsive effects of pentylentetrazol. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	A	G	9: 8,225,320 (GRCm39)		noncoding transcript	Het
4930486L24Rik	A	G	13: 61,001,410 (GRCm39)	F106L	possibly damaging	Het
Adam11	A	T	11: 102,664,466 (GRCm39)	M385L	probably benign	Het
Adgre1	C	T	17: 57,788,007 (GRCm39)	P925S	probably benign	Het
Adh7	G	A	3: 137,932,087 (GRCm39)	A234T	probably benign	Het
Ano2	A	G	6: 125,849,703 (GRCm39)	E475G	probably damaging	Het
C2cd4c	A	G	10: 79,448,385 (GRCm39)	V254A	probably benign	Het
Car13	A	G	3: 14,715,749 (GRCm39)	Y89C	probably damaging	Het
Cd38	A	G	5: 44,057,728 (GRCm39)	K100R	probably damaging	Het
Cdh11	A	G	8: 103,361,175 (GRCm39)	I721T	probably damaging	Het
Cdh2	G	A	18: 16,779,579 (GRCm39)	Q161*	probably null	Het
Clk1	T	C	1: 58,459,354 (GRCm39)	K135R	probably damaging	Het
Col5a1	G	A	2: 27,887,611 (GRCm39)	G961R	unknown	Het
Cpt1b	T	A	15: 89,308,476 (GRCm39)	I151F	probably benign	Het
Cyp51	A	G	5: 4,151,213 (GRCm39)	F139L	probably damaging	Het
Disp1	TTGA	T	1: 182,870,119 (GRCm39)		probably null	Het
Dnah8	T	C	17: 31,029,298 (GRCm39)	I4089T	probably benign	Het
Dnali1	C	T	4: 124,952,843 (GRCm39)	V227M	possibly damaging	Het
Eml4	T	G	17: 83,717,514 (GRCm39)	S29A	probably benign	Het
Eps8l3	C	A	3: 107,786,895 (GRCm39)	P24T	probably benign	Het
Fancc	A	T	13: 63,478,446 (GRCm39)		probably null	Het
Firrm	A	T	1: 163,785,120 (GRCm39)	V753D	probably benign	Het
Grid2	G	A	6: 63,885,975 (GRCm39)	A124T	probably damaging	Het
Ikbke	C	T	1: 131,204,204 (GRCm39)		probably null	Het
Kyat1	G	A	2: 30,076,662 (GRCm39)	A284V	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lmbrd2	G	T	15: 9,175,269 (GRCm39)	L393F	probably benign	Het
Lrrc26	T	A	2: 25,180,536 (GRCm39)	L179Q	probably damaging	Het
Mlx	A	G	11: 100,979,520 (GRCm39)	D113G	possibly damaging	Het
Myod1	A	G	7: 46,026,407 (GRCm39)	K104R	probably damaging	Het
Nwd1	G	A	8: 73,429,602 (GRCm39)		probably null	Het
Or56b2j	T	G	7: 104,353,200 (GRCm39)	V142G	probably damaging	Het
Or5b118	A	G	19: 13,448,336 (GRCm39)	M1V	probably null	Het
Or6c3	A	C	10: 129,308,746 (GRCm39)	N62H	probably damaging	Het
Pacsin3	A	T	2: 91,093,126 (GRCm39)	Y206F	probably damaging	Het
Pcdhgb5	T	A	18: 37,864,970 (GRCm39)	V255E	probably damaging	Het
Pdp1	T	C	4: 11,960,907 (GRCm39)	D468G	possibly damaging	Het
Pgr	C	T	9: 8,900,600 (GRCm39)		probably benign	Het
Rbbp8nl	T	C	2: 179,920,461 (GRCm39)	T515A	probably damaging	Het
Rc3h1	G	T	1: 160,757,823 (GRCm39)	R47L	probably damaging	Het
Rfpl4b	T	A	10: 38,697,281 (GRCm39)	I107F	possibly damaging	Het
Rsbn1	T	C	3: 103,869,801 (GRCm39)	F754S	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scn3a	T	C	2: 65,337,608 (GRCm39)	T630A	possibly damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slco1a5	C	A	6: 142,194,542 (GRCm39)	C367F	probably damaging	Het
Slit1	A	G	19: 41,613,959 (GRCm39)		probably null	Het
Slit2	G	A	5: 48,378,333 (GRCm39)		probably null	Het
Snrnp40	G	T	4: 130,258,958 (GRCm39)	G122V	possibly damaging	Het
Stk16	T	A	1: 75,190,248 (GRCm39)	M111K	probably damaging	Het
Tbc1d2	T	C	4: 46,616,298 (GRCm39)	I477V	probably benign	Het
Tll1	T	A	8: 64,570,974 (GRCm39)	E199D	probably damaging	Het
Trhde	A	T	10: 114,424,407 (GRCm39)	D459E	probably benign	Het
Ttn	T	C	2: 76,541,881 (GRCm39)	R25375G	possibly damaging	Het
Tubgcp2	A	T	7: 139,578,701 (GRCm39)	M757K	possibly damaging	Het
Ubap1l	T	A	9: 65,279,337 (GRCm39)	V212D	possibly damaging	Het
Ubqln5	A	G	7: 103,778,632 (GRCm39)	V64A	possibly damaging	Het
Usp47	A	G	7: 111,709,204 (GRCm39)	M1337V	probably benign	Het
Vmn1r201	T	A	13: 22,659,409 (GRCm39)	Y208N	probably damaging	Het
Xkr8	C	T	4: 132,455,368 (GRCm39)	R335H	probably damaging	Het
Zbtb49	A	T	5: 38,373,870 (GRCm39)	C25S	probably damaging	Het
Zeb2	T	A	2: 44,887,800 (GRCm39)	N404I	probably damaging	Het

Other mutations in Prrt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1987:Prrt2	UTSW	7	126,617,902 (GRCm39)	missense	probably benign	0.00
R2012:Prrt2	UTSW	7	126,618,581 (GRCm39)	missense	probably damaging	1.00
R2504:Prrt2	UTSW	7	126,619,396 (GRCm39)	missense	possibly damaging	0.84
R5622:Prrt2	UTSW	7	126,618,937 (GRCm39)	missense	probably benign	0.02
R5655:Prrt2	UTSW	7	126,618,574 (GRCm39)	missense	probably damaging	1.00
R5704:Prrt2	UTSW	7	126,618,590 (GRCm39)	missense	probably damaging	1.00
R6765:Prrt2	UTSW	7	126,618,769 (GRCm39)	missense	probably damaging	1.00
R7910:Prrt2	UTSW	7	126,619,219 (GRCm39)	missense	possibly damaging	0.57
R9369:Prrt2	UTSW	7	126,619,343 (GRCm39)	missense	probably benign
Z1177:Prrt2	UTSW	7	126,618,056 (GRCm39)	missense	probably null	0.67

Predicted Primers

PCR Primer
(F):5'- CAGAGAGGTTTTCAGAGTGCAG -3'
(R):5'- TCAACTTAGGCGGTGAGTGG -3'

Sequencing Primer
(F):5'- CTATGGCTGGCAGAGGAGC -3'
(R):5'- TGAGTGGGGGTCAGGGAC -3'

Posted On

2016-11-21