Mutagenetix > Incidental Mutation

Incidental Mutation 'R5704:Prrt2'

451857

Institutional Source

Beutler Lab

Gene Symbol

Prrt2

Ensembl Gene

ENSMUSG00000045114

Gene Name

proline-rich transmembrane protein 2

Synonyms

1500031I19Rik

MMRRC Submission

043329-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5704 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126616703-126620383 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126618590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 292 (V292M)

Ref Sequence

ENSEMBL: ENSMUSP00000124520 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000159916
AA Change: V292M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124520
Gene: ENSMUSG00000045114
AA Change: V292M

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

silent
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

noncoding transcript
Transcript: ENSMUST00000202936

Predicted Effect

probably damaging
Transcript: ENSMUST00000202045
AA Change: V7M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144042
Gene: ENSMUSG00000045114
AA Change: V7M

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: ENSMUST00000206416

Predicted Effect

probably benign
Transcript: ENSMUST00000205461

Predicted Effect

probably benign
Transcript: ENSMUST00000205568

Predicted Effect

probably benign
Transcript: ENSMUST00000206254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201606

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: 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: 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

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: ENSMUST00000201686

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

noncoding transcript
Transcript: ENSMUST00000206953

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206511

Meta Mutation Damage Score

0.3540

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (85/87)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	G	A	5: 105,116,036 (GRCm39)	A266V	probably damaging	Het
Acad10	A	G	5: 121,769,606 (GRCm39)	S617P	probably benign	Het
Ahi1	A	C	10: 20,950,326 (GRCm39)	M126L	probably benign	Het
Alk	T	C	17: 72,910,115 (GRCm39)	E197G	probably damaging	Het
Alyref2	A	T	1: 171,331,547 (GRCm39)	Y108F	probably damaging	Het
Ankrd26	T	G	6: 118,500,843 (GRCm39)	H876P	probably damaging	Het
Arfgef1	T	C	1: 10,229,808 (GRCm39)	T1298A	probably damaging	Het
Arhgap33	T	A	7: 30,219,045 (GRCm39)		probably benign	Het
Arhgef17	A	G	7: 100,530,548 (GRCm39)	S1413P	probably damaging	Het
Arid1a	A	T	4: 133,409,050 (GRCm39)	V1819E	unknown	Het
Asprv1	A	G	6: 86,605,532 (GRCm39)	N126S	probably damaging	Het
Atg16l2	T	C	7: 100,949,418 (GRCm39)	Y43C	probably damaging	Het
Atp13a3	G	T	16: 30,140,697 (GRCm39)	T1160K	probably benign	Het
Atp1a3	T	C	7: 24,696,736 (GRCm39)	T272A	probably damaging	Het
Bpifa3	G	T	2: 153,979,562 (GRCm39)		probably null	Het
Bri3	T	C	5: 144,192,716 (GRCm39)	V80A	probably damaging	Het
Ccdc28a	T	A	10: 18,106,320 (GRCm39)	E2V	probably damaging	Het
Ccdc7a	T	A	8: 129,706,577 (GRCm39)		probably benign	Het
Cds2	G	A	2: 132,135,249 (GRCm39)	V47I	probably benign	Het
Cela2a	G	A	4: 141,553,299 (GRCm39)		probably benign	Het
Ckap5	A	G	2: 91,406,548 (GRCm39)	Y783C	probably damaging	Het
Cmtr1	G	C	17: 29,882,217 (GRCm39)	A23P	possibly damaging	Het
Crym	C	A	7: 119,801,163 (GRCm39)		probably null	Het
Def6	T	G	17: 28,447,200 (GRCm39)	D610E	probably benign	Het
Dnajc15	T	C	14: 78,063,898 (GRCm39)	Y130C	probably damaging	Het
Dock8	G	A	19: 25,151,586 (GRCm39)	V1560I	probably damaging	Het
Eif4g3	T	C	4: 137,918,003 (GRCm39)	V1501A	probably damaging	Het
Esyt1	A	G	10: 128,347,379 (GRCm39)	S1049P	probably damaging	Het
Gm4952	G	T	19: 12,604,275 (GRCm39)	R229L	probably damaging	Het
Golga5	T	A	12: 102,455,707 (GRCm39)	H548Q	probably benign	Het
Gspt1	A	T	16: 11,046,057 (GRCm39)	D449E	possibly damaging	Het
Gtf3c2	T	A	5: 31,316,454 (GRCm39)	D732V	probably damaging	Het
Hax1	T	A	3: 89,903,403 (GRCm39)	Q168L	probably damaging	Het
Hectd2	T	A	19: 36,576,291 (GRCm39)	S91T	possibly damaging	Het
Igfbp2	T	A	1: 72,891,303 (GRCm39)	H300Q	probably benign	Het
Il12rb2	T	C	6: 67,269,197 (GRCm39)	N538S	possibly damaging	Het
Insr	G	A	8: 3,235,122 (GRCm39)	P124L	possibly damaging	Het
Irak3	C	A	10: 119,981,594 (GRCm39)	R437L	probably benign	Het
Jhy	C	T	9: 40,808,734 (GRCm39)	V676I	probably damaging	Het
Kcns3	G	A	12: 11,142,328 (GRCm39)	R124C	probably benign	Het
Lactb	G	A	9: 66,863,058 (GRCm39)	R519*	probably null	Het
Mdfic	G	A	6: 15,770,291 (GRCm39)	G94D	probably damaging	Het
Mospd3	A	G	5: 137,598,613 (GRCm39)	V42A	possibly damaging	Het
Mov10	A	G	3: 104,706,912 (GRCm39)	V666A	probably benign	Het
Mucl1	T	C	15: 103,785,663 (GRCm39)	I15V	probably benign	Het
Mug1	T	A	6: 121,828,392 (GRCm39)	V268D	possibly damaging	Het
Myo5c	T	A	9: 75,180,185 (GRCm39)	S709T	probably benign	Het
Nol11	T	A	11: 107,064,195 (GRCm39)	E519V	probably benign	Het
Nrp2	A	T	1: 62,824,267 (GRCm39)	I791L	probably benign	Het
Nudt19	A	G	7: 35,250,972 (GRCm39)	Y256H	probably benign	Het
Nudt8	C	T	19: 4,050,777 (GRCm39)	R42C	probably damaging	Het
Or5ac16	A	G	16: 59,022,369 (GRCm39)	L140P	probably damaging	Het
Or6c213	T	A	10: 129,574,685 (GRCm39)	I34F	probably benign	Het
Pcdhga12	A	G	18: 37,900,422 (GRCm39)	Y418C	probably damaging	Het
Pds5a	A	G	5: 65,784,422 (GRCm39)		probably null	Het
Pdzd2	T	C	15: 12,385,761 (GRCm39)	D1003G	probably benign	Het
Pglyrp4	T	A	3: 90,647,581 (GRCm39)		probably null	Het
Phip	T	C	9: 82,753,408 (GRCm39)	N1779D	probably damaging	Het
Postn	G	T	3: 54,279,527 (GRCm39)	C335F	probably damaging	Het
Ppp4r3a	T	C	12: 101,049,619 (GRCm39)		probably benign	Het
Rpl18	T	C	7: 45,370,146 (GRCm39)	V138A	possibly damaging	Het
Rps14	G	A	18: 60,910,205 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,533,956 (GRCm39)		probably null	Het
Siah2	T	G	3: 58,583,821 (GRCm39)	K155T	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc25a39	T	A	11: 102,294,220 (GRCm39)		probably benign	Het
Slco1a7	T	C	6: 141,658,980 (GRCm39)	M539V	probably benign	Het
Smok2b	T	A	17: 13,455,231 (GRCm39)	C464S	probably damaging	Het
Spata31	G	A	13: 65,069,855 (GRCm39)	V668I	probably benign	Het
Tbxas1	C	A	6: 38,998,067 (GRCm39)	H212N	probably benign	Het
Tenm1	A	G	X: 42,163,572 (GRCm39)	V107A	possibly damaging	Het
Thada	C	T	17: 84,538,329 (GRCm39)	A1560T	probably benign	Het
Tmem241	G	C	18: 12,197,263 (GRCm39)	F65L	probably damaging	Het
Ttc16	C	G	2: 32,659,137 (GRCm39)	E321Q	probably damaging	Het
Ttn	A	T	2: 76,748,929 (GRCm39)	L4040H	possibly damaging	Het
Tyw1	G	A	5: 130,310,863 (GRCm39)	W437*	probably null	Het
Unc79	T	A	12: 102,968,202 (GRCm39)	Y143N	probably damaging	Het
Urb2	C	T	8: 124,764,921 (GRCm39)	R1310W	probably damaging	Het
Vmn2r4	T	C	3: 64,317,370 (GRCm39)	I34V	probably benign	Het
Zfp513	C	T	5: 31,358,010 (GRCm39)	C121Y	possibly damaging	Het
Zfp606	T	G	7: 12,227,456 (GRCm39)	W468G	probably damaging	Het
Zfyve16	C	T	13: 92,640,979 (GRCm39)		probably null	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
R5699:Prrt2	UTSW	7	126,617,899 (GRCm39)	missense	probably benign	0.00
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'- CCTTGGAAGGTTAGGTCCTG -3'
(R):5'- GAAAACGGAGCAGTGGTTCC -3'

Sequencing Primer
(F):5'- GTTAGGTCCTGGGGAGAGAC -3'
(R):5'- TGCTGCAGAAACTCGTTGAG -3'

Posted On

2017-01-03