Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02739:Prtg'

305793

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prtg

Ensembl Gene

ENSMUSG00000036030

Gene Name

protogenin

Synonyms

Igdcc5, A230098A12Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.662) question?

Stock #

IGL02739

Quality Score

Status

Chromosome

Chromosomal Location

72806874-72917291 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72851585 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 407 (V407A)

Ref Sequence

ENSEMBL: ENSMUSP00000055815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055535]

AlphaFold

Q2EY15

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055535
AA Change: V407A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030
AA Change: V407A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IGc2	45	114	1.7e-8	SMART
IGc2	141	206	8.5e-12	SMART
IGc2	241	305	6.9e-12	SMART
IGc2	333	396	9.4e-10	SMART
FN3	413	496	8.9e-11	SMART
FN3	511	594	1.3e-10	SMART
FN3	613	693	1.5e-5	SMART
FN3	715	798	3e-10	SMART
FN3	814	898	4.4e-12	SMART
transmembrane domain	943	965	N/A	INTRINSIC
low complexity region	966	976	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the immunoglobulin superfamily. The encoded transmembrane protein has been associated with the development of various tissues, especially neurogenesis. It has been suggested that this gene may be associated with attention deficit hyperactivity disorder (ADHD). [provided by RefSeq, Nov 2014]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 76,878,517	C887S	possibly damaging	Het
Adamdec1	C	A	14: 68,570,156	E352*	probably null	Het
Bglap2	A	T	3: 88,378,012		probably null	Het
Bsn	A	T	9: 108,112,546	H2002Q	probably benign	Het
Chtop	T	A	3: 90,502,250	Q165L	possibly damaging	Het
Clcn1	A	T	6: 42,286,780		probably null	Het
Ctsr	T	C	13: 61,161,844	T184A	probably benign	Het
Defb36	T	C	2: 152,604,519	L11P	unknown	Het
Dock8	A	G	19: 25,188,488	E1912G	probably damaging	Het
Dpp3	A	G	19: 4,923,728	Y106H	probably damaging	Het
Epas1	A	G	17: 86,805,282	T103A	probably damaging	Het
Epcam	A	T	17: 87,640,494	T131S	probably benign	Het
Fam169a	A	G	13: 97,094,055		probably benign	Het
Gh	T	A	11: 106,301,733		probably benign	Het
Kif20a	A	T	18: 34,628,943	K399*	probably null	Het
Lrp1b	A	G	2: 41,498,215	I466T	probably damaging	Het
Nlk	A	G	11: 78,574,851	V409A	probably benign	Het
Nomo1	A	G	7: 46,044,307		probably null	Het
Nr2c1	T	A	10: 94,156,972	M16K	probably damaging	Het
Nxph2	A	T	2: 23,399,900	Q88L	probably benign	Het
Olfr33	A	G	7: 102,714,314	I33T	possibly damaging	Het
Pkdrej	T	A	15: 85,819,694	R680S	probably benign	Het
Pkhd1l1	A	T	15: 44,540,950	N2325I	probably benign	Het
Pnliprp2	T	C	19: 58,760,509		probably null	Het
Ppp1r42	T	A	1: 9,968,853	K347N	probably benign	Het
Psmb8	C	A	17: 34,200,754	S194*	probably null	Het
Rnf214	T	C	9: 45,869,474	I406V	probably benign	Het
Rreb1	C	T	13: 37,893,821	S3L	probably damaging	Het
Sdad1	C	T	5: 92,290,072	A539T	probably benign	Het
Sema3a	A	G	5: 13,451,161	Y57C	probably damaging	Het
Susd5	A	G	9: 114,096,033	E328G	possibly damaging	Het
Syngr3	T	C	17: 24,686,398	T175A	probably damaging	Het
Tcf20	T	A	15: 82,856,080	Q390L	probably damaging	Het
Tex15	A	G	8: 33,581,693	T2423A	possibly damaging	Het
Tlr1	T	C	5: 64,927,126	N36S	probably benign	Het
Uchl4	C	T	9: 64,235,537	T100M	probably damaging	Het
Uhrf1	A	G	17: 56,305,129	K11R	probably benign	Het
Vps13b	T	A	15: 35,879,900	D3040E	probably damaging	Het
Wdr62	A	T	7: 30,242,460	Y640*	probably null	Het
Zkscan17	T	G	11: 59,503,526	E83A	probably damaging	Het

Other mutations in Prtg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Prtg	APN	9	72809644	missense	probably damaging	1.00
IGL00942:Prtg	APN	9	72892340	missense	possibly damaging	0.82
IGL01821:Prtg	APN	9	72911937	missense	probably damaging	0.98
IGL01901:Prtg	APN	9	72855066	missense	probably damaging	1.00
IGL02143:Prtg	APN	9	72892324	missense	probably damaging	1.00
IGL02232:Prtg	APN	9	72851489	missense	probably damaging	1.00
IGL02451:Prtg	APN	9	72856999	missense	possibly damaging	0.95
IGL02510:Prtg	APN	9	72890869	missense	probably damaging	0.99
IGL03136:Prtg	APN	9	72856985	missense	possibly damaging	0.91
FR4548:Prtg	UTSW	9	72857081	critical splice donor site	probably benign
FR4589:Prtg	UTSW	9	72856865	missense	probably damaging	1.00
FR4737:Prtg	UTSW	9	72857081	critical splice donor site	probably benign
R0130:Prtg	UTSW	9	72809716	missense	probably damaging	1.00
R0321:Prtg	UTSW	9	72848025	missense	possibly damaging	0.83
R0390:Prtg	UTSW	9	72844958	missense	probably benign	0.24
R0900:Prtg	UTSW	9	72844943	missense	probably benign
R1121:Prtg	UTSW	9	72906167	missense	probably benign	0.15
R1438:Prtg	UTSW	9	72910750	splice site	probably benign
R1537:Prtg	UTSW	9	72809757	missense	probably benign	0.00
R1590:Prtg	UTSW	9	72842807	missense	probably benign
R1626:Prtg	UTSW	9	72844911	missense	probably damaging	1.00
R1965:Prtg	UTSW	9	72848322	missense	probably benign	0.27
R1993:Prtg	UTSW	9	72844896	missense	probably benign
R2351:Prtg	UTSW	9	72856824	missense	probably damaging	1.00
R3737:Prtg	UTSW	9	72842709	nonsense	probably null
R3921:Prtg	UTSW	9	72848347	missense	probably damaging	0.98
R4035:Prtg	UTSW	9	72842709	nonsense	probably null
R4378:Prtg	UTSW	9	72842760	missense	possibly damaging	0.91
R4687:Prtg	UTSW	9	72890798	missense	probably damaging	1.00
R5469:Prtg	UTSW	9	72891965	missense	probably damaging	0.98
R5556:Prtg	UTSW	9	72851704	missense	probably damaging	1.00
R5563:Prtg	UTSW	9	72856898	missense	probably damaging	1.00
R5710:Prtg	UTSW	9	72809640	missense	probably damaging	1.00
R5738:Prtg	UTSW	9	72912006	missense	probably benign	0.16
R5868:Prtg	UTSW	9	72809717	nonsense	probably null
R5961:Prtg	UTSW	9	72856946	missense	probably benign
R5964:Prtg	UTSW	9	72892254	missense	probably benign	0.41
R6217:Prtg	UTSW	9	72904794	missense	probably damaging	1.00
R6306:Prtg	UTSW	9	72906186	missense	probably benign	0.42
R6395:Prtg	UTSW	9	72912132	missense	possibly damaging	0.80
R6455:Prtg	UTSW	9	72907856	missense	probably damaging	1.00
R6673:Prtg	UTSW	9	72851682	missense	probably damaging	0.99
R6985:Prtg	UTSW	9	72851501	missense	probably damaging	1.00
R7014:Prtg	UTSW	9	72891985	missense	possibly damaging	0.95
R7233:Prtg	UTSW	9	72911991	missense	probably benign	0.00
R7261:Prtg	UTSW	9	72907835	missense	possibly damaging	0.94
R7324:Prtg	UTSW	9	72890840	missense	probably damaging	0.96
R7372:Prtg	UTSW	9	72851566	nonsense	probably null
R7808:Prtg	UTSW	9	72842697	missense	possibly damaging	0.81
R8069:Prtg	UTSW	9	72844983	missense	probably benign	0.10
R8262:Prtg	UTSW	9	72906238	missense	probably benign	0.00
R8280:Prtg	UTSW	9	72906151	missense	probably damaging	0.99
R8290:Prtg	UTSW	9	72890795	missense	probably damaging	1.00
R8511:Prtg	UTSW	9	72890874	critical splice donor site	probably null
R8773:Prtg	UTSW	9	72912301	makesense	probably null
R9020:Prtg	UTSW	9	72891995	missense	probably damaging	0.98
R9104:Prtg	UTSW	9	72848325	missense	probably damaging	1.00
R9166:Prtg	UTSW	9	72856825	missense	probably damaging	1.00
R9186:Prtg	UTSW	9	72856877	missense	probably benign	0.34
R9256:Prtg	UTSW	9	72851695	missense	probably damaging	0.99
R9277:Prtg	UTSW	9	72809647	missense	probably benign	0.02
R9383:Prtg	UTSW	9	72849861	missense	probably benign	0.39
R9402:Prtg	UTSW	9	72911971	missense	probably benign	0.37
R9564:Prtg	UTSW	9	72858871	missense	probably damaging	0.99
R9644:Prtg	UTSW	9	72906211	missense	probably damaging	0.99
R9700:Prtg	UTSW	9	72855031	missense	probably benign
X0028:Prtg	UTSW	9	72851716	missense	possibly damaging	0.55
X0064:Prtg	UTSW	9	72904892	splice site	probably null
Z1176:Prtg	UTSW	9	72893968	missense	probably damaging	1.00

Posted On

2015-04-16