Mutagenetix > Incidental Mutation

Incidental Mutation 'R9574:Prrt3'

722185

Institutional Source

Beutler Lab

Gene Symbol

Prrt3

Ensembl Gene

ENSMUSG00000045009

Gene Name

proline-rich transmembrane protein 3

Synonyms

B230206N24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R9574 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113470600-113478892 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113474587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 212 (T212A)

Ref Sequence

ENSEMBL: ENSMUSP00000145031 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032422] [ENSMUST00000101059] [ENSMUST00000204134] [ENSMUST00000204268] [ENSMUST00000205075] [ENSMUST00000205170]

AlphaFold

Q6PE13

Predicted Effect

probably benign
Transcript: ENSMUST00000032422

SMART Domains

Protein: ENSMUSP00000032422
Gene: ENSMUSG00000030284

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:DUF3456	45	103	1.7e-9	PFAM
EGF	154	193	2.11e1	SMART
FU	208	255	1.66e-1	SMART
EGF	213	244	2.2e1	SMART
EGF_like	245	290	4.26e-3	SMART
FU	268	315	4.46e-2	SMART
EGF_CA	305	344	1.1e-7	SMART
transmembrane domain	363	382	N/A	INTRINSIC
transmembrane domain	387	406	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101059
AA Change: T212A

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000098620
Gene: ENSMUSG00000045009
AA Change: T212A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	125	136	N/A	INTRINSIC
low complexity region	142	162	N/A	INTRINSIC
low complexity region	239	252	N/A	INTRINSIC
low complexity region	270	281	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC
low complexity region	423	447	N/A	INTRINSIC
transmembrane domain	463	485	N/A	INTRINSIC
transmembrane domain	492	511	N/A	INTRINSIC
transmembrane domain	526	548	N/A	INTRINSIC
transmembrane domain	561	583	N/A	INTRINSIC
transmembrane domain	588	610	N/A	INTRINSIC
transmembrane domain	630	652	N/A	INTRINSIC
transmembrane domain	667	689	N/A	INTRINSIC
low complexity region	885	905	N/A	INTRINSIC
low complexity region	927	943	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204134
AA Change: T212A

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000145031
Gene: ENSMUSG00000045009
AA Change: T212A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	125	136	N/A	INTRINSIC
low complexity region	142	162	N/A	INTRINSIC
low complexity region	239	252	N/A	INTRINSIC
low complexity region	270	281	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC
low complexity region	424	448	N/A	INTRINSIC
transmembrane domain	464	486	N/A	INTRINSIC
transmembrane domain	493	512	N/A	INTRINSIC
transmembrane domain	527	549	N/A	INTRINSIC
transmembrane domain	562	584	N/A	INTRINSIC
transmembrane domain	589	611	N/A	INTRINSIC
transmembrane domain	631	653	N/A	INTRINSIC
transmembrane domain	668	690	N/A	INTRINSIC
low complexity region	886	906	N/A	INTRINSIC
low complexity region	928	944	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204268
AA Change: T212A

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000145443
Gene: ENSMUSG00000045009
AA Change: T212A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	125	136	N/A	INTRINSIC
low complexity region	142	162	N/A	INTRINSIC
low complexity region	239	252	N/A	INTRINSIC
low complexity region	270	281	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC
low complexity region	424	448	N/A	INTRINSIC
transmembrane domain	464	486	N/A	INTRINSIC
transmembrane domain	493	512	N/A	INTRINSIC
transmembrane domain	527	549	N/A	INTRINSIC
transmembrane domain	562	584	N/A	INTRINSIC
transmembrane domain	589	611	N/A	INTRINSIC
transmembrane domain	631	653	N/A	INTRINSIC
transmembrane domain	668	690	N/A	INTRINSIC
low complexity region	886	906	N/A	INTRINSIC
low complexity region	928	944	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205075
AA Change: T212A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000145089
Gene: ENSMUSG00000045009
AA Change: T212A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	125	136	N/A	INTRINSIC
low complexity region	142	162	N/A	INTRINSIC
low complexity region	239	252	N/A	INTRINSIC
low complexity region	270	281	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205170
AA Change: T212A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000145183
Gene: ENSMUSG00000045009
AA Change: T212A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	125	136	N/A	INTRINSIC
low complexity region	142	162	N/A	INTRINSIC
low complexity region	239	252	N/A	INTRINSIC
low complexity region	270	281	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	A	11: 48,838,496 (GRCm39)	E697V	probably damaging	Het
Actn4	T	C	7: 28,594,864 (GRCm39)	D805G	probably benign	Het
Adam2	C	T	14: 66,275,071 (GRCm39)	S554N	probably benign	Het
Adra2b	A	G	2: 127,206,283 (GRCm39)	T267A	probably benign	Het
Apobec4	A	T	1: 152,632,415 (GRCm39)	T148S	probably damaging	Het
B4galt1	T	A	4: 40,853,766 (GRCm39)	M14L	probably benign	Het
Bok	C	A	1: 93,616,947 (GRCm39)	Q98K	probably benign	Het
Cacnb4	A	T	2: 52,327,016 (GRCm39)	L394Q	probably damaging	Het
Ccar2	T	C	14: 70,381,105 (GRCm39)	K287E	probably benign	Het
Cdyl2	T	A	8: 117,350,669 (GRCm39)	E154V	probably benign	Het
Cenpn	T	G	8: 117,660,149 (GRCm39)	Y160D	probably damaging	Het
Cfap20	T	C	8: 96,149,514 (GRCm39)	Y58C	probably benign	Het
Creb5	T	A	6: 53,658,039 (GRCm39)	L123Q	unknown	Het
Cspg4	G	A	9: 56,797,342 (GRCm39)	V1269M	probably damaging	Het
Cyp2b19	G	T	7: 26,466,353 (GRCm39)	K385N	probably null	Het
Cyp2b19	A	T	7: 26,466,352 (GRCm39)	K385M	probably damaging	Het
Ercc2	C	A	7: 19,124,060 (GRCm39)	D422E	probably benign	Het
Fbxl12	A	G	9: 20,550,109 (GRCm39)	V129A	possibly damaging	Het
Fbxo11	T	C	17: 88,321,951 (GRCm39)	E84G		Het
Fmn1	T	C	2: 113,425,402 (GRCm39)	L1192S	probably damaging	Het
Galk2	T	C	2: 125,824,979 (GRCm39)	F392L	probably benign	Het
Gas2l3	G	A	10: 89,258,135 (GRCm39)	H153Y	probably damaging	Het
Gcn1	A	T	5: 115,713,341 (GRCm39)	K101N	possibly damaging	Het
Gmfg	C	T	7: 28,145,359 (GRCm39)	Q101*	probably null	Het
Gpr108	C	T	17: 57,545,039 (GRCm39)	C309Y	probably damaging	Het
H3c8	T	C	13: 23,719,761 (GRCm39)	L49P	probably damaging	Het
Hscb	A	T	5: 110,982,595 (GRCm39)	I164N	probably damaging	Het
Kifc2	T	C	15: 76,546,397 (GRCm39)	W260R	probably damaging	Het
Lrp6	T	A	6: 134,447,662 (GRCm39)	D995V	possibly damaging	Het
Lrrc1	T	A	9: 77,358,708 (GRCm39)	I308F	probably damaging	Het
Map7	C	T	10: 20,153,966 (GRCm39)	A694V	unknown	Het
Mapre2	A	G	18: 23,965,993 (GRCm39)	D68G	probably benign	Het
Mertk	A	T	2: 128,593,880 (GRCm39)	I295F	probably benign	Het
Mst1	T	A	9: 107,962,053 (GRCm39)	C690*	probably null	Het
Nde1	A	G	16: 13,988,345 (GRCm39)	E76G	probably damaging	Het
Nek5	T	C	8: 22,564,040 (GRCm39)	T597A	probably benign	Het
Nup210l	T	C	3: 90,117,693 (GRCm39)	F1800L	probably benign	Het
Or5c1	A	G	2: 37,222,148 (GRCm39)	I130V	possibly damaging	Het
Pdpn	T	A	4: 142,997,101 (GRCm39)	D131V	probably benign	Het
Pgap6	T	C	17: 26,337,861 (GRCm39)	V415A	probably damaging	Het
Pot1a	T	C	6: 25,775,718 (GRCm39)	T118A	possibly damaging	Het
Prom1	A	G	5: 44,158,179 (GRCm39)	I843T	probably benign	Het
Rabgap1	A	G	2: 37,433,246 (GRCm39)		probably null	Het
Rarb	A	T	14: 16,574,858 (GRCm38)	S53T	probably damaging	Het
Rnft2	A	G	5: 118,375,330 (GRCm39)	S140P	probably benign	Het
Rxfp1	T	C	3: 79,563,581 (GRCm39)	M362V	probably benign	Het
Sall2	G	A	14: 52,551,617 (GRCm39)	T526M	probably damaging	Het
Scube1	T	C	15: 83,501,000 (GRCm39)	D598G		Het
Sema3f	T	A	9: 107,566,972 (GRCm39)	I186F	possibly damaging	Het
Shank2	A	G	7: 143,622,462 (GRCm39)	T199A	possibly damaging	Het
Sipa1l2	T	A	8: 126,169,453 (GRCm39)	M1427L	probably benign	Het
Sis	C	T	3: 72,828,490 (GRCm39)	G1195D	probably benign	Het
Slc25a39	A	T	11: 102,295,390 (GRCm39)	H193Q	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Srgn	A	C	10: 62,343,444 (GRCm39)	L17R	probably damaging	Het
Stard5	A	G	7: 83,281,944 (GRCm39)	N34D	probably benign	Het
Syt8	A	T	7: 141,993,203 (GRCm39)	D220V	probably damaging	Het
Tex15	A	G	8: 34,064,509 (GRCm39)	E1313G	probably benign	Het
Tmem131l	T	C	3: 83,868,911 (GRCm39)	R155G	probably damaging	Het
Tmem220	T	C	11: 66,916,093 (GRCm39)	V30A	probably damaging	Het
Tollip	A	G	7: 141,445,731 (GRCm39)	I119T	probably damaging	Het
Treml4	G	A	17: 48,571,672 (GRCm39)	G25D	probably damaging	Het
Trim7	T	C	11: 48,728,460 (GRCm39)	F36S	probably damaging	Het
Txnrd3	T	A	6: 89,640,166 (GRCm39)	C293*	probably null	Het
Utp14b	A	G	1: 78,643,482 (GRCm39)	D460G	probably benign	Het
Vmn2r41	T	A	7: 8,153,329 (GRCm39)	N397Y	probably benign	Het
Vmn2r67	T	C	7: 84,786,017 (GRCm39)	I663V	probably benign	Het
Zfp292	T	A	4: 34,839,460 (GRCm39)	H135L	probably damaging	Het
Zfp420	C	T	7: 29,575,480 (GRCm39)	R567*	probably null	Het
Zfp518b	C	T	5: 38,830,773 (GRCm39)	V411M	probably benign	Het
Zfp638	T	A	6: 83,956,680 (GRCm39)	D1762E	probably damaging	Het
Zfp691	T	A	4: 119,028,230 (GRCm39)	M1L	possibly damaging	Het

Other mutations in Prrt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Prrt3	APN	6	113,474,731 (GRCm39)	missense	possibly damaging	0.66
IGL02199:Prrt3	APN	6	113,471,770 (GRCm39)	missense	probably damaging	1.00
IGL02441:Prrt3	APN	6	113,473,977 (GRCm39)	missense	probably damaging	0.99
IGL02498:Prrt3	APN	6	113,474,788 (GRCm39)	missense	possibly damaging	0.62
IGL02508:Prrt3	APN	6	113,471,268 (GRCm39)	missense	probably damaging	1.00
IGL03231:Prrt3	APN	6	113,474,485 (GRCm39)	missense	possibly damaging	0.83
R0102:Prrt3	UTSW	6	113,474,790 (GRCm39)	missense	probably damaging	0.97
R0102:Prrt3	UTSW	6	113,474,790 (GRCm39)	missense	probably damaging	0.97
R0207:Prrt3	UTSW	6	113,472,801 (GRCm39)	missense	probably damaging	1.00
R1005:Prrt3	UTSW	6	113,471,739 (GRCm39)	missense	probably damaging	1.00
R1550:Prrt3	UTSW	6	113,472,468 (GRCm39)	missense	probably damaging	0.97
R4036:Prrt3	UTSW	6	113,474,641 (GRCm39)	frame shift	probably null
R4393:Prrt3	UTSW	6	113,471,907 (GRCm39)	missense	probably benign
R4604:Prrt3	UTSW	6	113,475,198 (GRCm39)	missense	possibly damaging	0.83
R4825:Prrt3	UTSW	6	113,475,099 (GRCm39)	missense	probably benign	0.01
R5155:Prrt3	UTSW	6	113,474,520 (GRCm39)	splice site	probably null
R6154:Prrt3	UTSW	6	113,471,989 (GRCm39)	missense	probably damaging	1.00
R7570:Prrt3	UTSW	6	113,471,449 (GRCm39)	missense	probably damaging	0.98
R8903:Prrt3	UTSW	6	113,472,796 (GRCm39)	missense	probably damaging	0.98
R9335:Prrt3	UTSW	6	113,475,058 (GRCm39)	missense	probably benign	0.12
R9768:Prrt3	UTSW	6	113,474,032 (GRCm39)	missense	probably damaging	1.00
Z1177:Prrt3	UTSW	6	113,474,263 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTATCCCCAGCTCCAGTTTTGG -3'
(R):5'- GGCAGCCATACTTTCCACTG -3'

Sequencing Primer
(F):5'- AGAGGAAGGCTTCTGACCAATGC -3'
(R):5'- ATACTTTCCACTGCCTCCCAGAAG -3'

Posted On

2022-08-09