Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02451:Prtg'

293642

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prtg

Ensembl Gene

ENSMUSG00000036030

Gene Name

protogenin

Synonyms

A230098A12Rik, Igdcc5

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.652) question?

Stock #

IGL02451

Quality Score

Status

Chromosome

Chromosomal Location

72714556-72824589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72764281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 585 (I585V)

Ref Sequence

ENSEMBL: ENSMUSP00000055815 (fasta)

Gene Model

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

AlphaFold

Q2EY15

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055535
AA Change: I585V

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030
AA Change: I585V

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	G	5: 138,561,809 (GRCm39)	T126P	probably damaging	Het
Asic2	T	C	11: 80,782,563 (GRCm39)		probably benign	Het
B430305J03Rik	A	G	3: 61,271,562 (GRCm39)		probably benign	Het
Bbs7	A	G	3: 36,664,741 (GRCm39)	F47L	possibly damaging	Het
Bcl2l14	G	T	6: 134,400,804 (GRCm39)	G75V	probably benign	Het
Btnl4	T	C	17: 34,694,901 (GRCm39)	H4R	probably benign	Het
Champ1	C	A	8: 13,928,739 (GRCm39)	P299Q	probably damaging	Het
Cimap3	T	A	3: 105,921,820 (GRCm39)	E34D	probably benign	Het
Cldnd2	A	G	7: 43,091,082 (GRCm39)	K5E	probably benign	Het
Ctr9	T	A	7: 110,642,631 (GRCm39)	L401*	probably null	Het
Cyp2c29	G	A	19: 39,279,291 (GRCm39)	G96D	possibly damaging	Het
Enpp4	A	T	17: 44,412,315 (GRCm39)	L298H	probably damaging	Het
Git1	T	C	11: 77,391,513 (GRCm39)	C222R	possibly damaging	Het
Gpam	T	C	19: 55,076,635 (GRCm39)	T189A	probably damaging	Het
Hgfac	T	G	5: 35,201,158 (GRCm39)		probably null	Het
Hivep3	T	A	4: 119,991,162 (GRCm39)	S2221T	probably damaging	Het
Ifi47	T	C	11: 48,986,604 (GRCm39)	Y124H	probably damaging	Het
Il1a	T	C	2: 129,148,575 (GRCm39)	E45G	probably damaging	Het
Itga11	T	A	9: 62,642,635 (GRCm39)	I186N	probably damaging	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Mapk13	A	G	17: 28,995,387 (GRCm39)	T203A	probably damaging	Het
Mrpl37	T	A	4: 106,923,839 (GRCm39)	I52F	probably damaging	Het
Mtrex	C	T	13: 113,027,881 (GRCm39)	V660M	probably damaging	Het
Nr1i2	A	G	16: 38,069,654 (GRCm39)	F417L	probably benign	Het
Or10ag59	T	A	2: 87,405,576 (GRCm39)	S49R	probably benign	Het
Or6c215	G	A	10: 129,637,702 (GRCm39)	Q231*	probably null	Het
Osbpl1a	T	C	18: 13,047,550 (GRCm39)		probably benign	Het
Parg	C	T	14: 31,964,186 (GRCm39)	T112M	probably damaging	Het
Pou6f1	T	C	15: 100,477,821 (GRCm39)	T166A	possibly damaging	Het
Ptpru	T	G	4: 131,504,086 (GRCm39)		probably benign	Het
Rab6a	T	C	7: 100,285,970 (GRCm39)		probably null	Het
Rnf207	C	T	4: 152,396,869 (GRCm39)	R425H	probably benign	Het
Rusf1	A	G	7: 127,875,582 (GRCm39)	L257P	probably damaging	Het
Slc27a2	A	G	2: 126,420,912 (GRCm39)	M468V	probably benign	Het
Slc30a1	A	G	1: 191,639,441 (GRCm39)	H108R	possibly damaging	Het
Sned1	A	G	1: 93,163,930 (GRCm39)		probably benign	Het
Sptbn4	A	T	7: 27,065,014 (GRCm39)	F2095Y	probably null	Het
Sspo	A	T	6: 48,437,237 (GRCm39)		probably benign	Het
Tbx19	A	G	1: 164,967,740 (GRCm39)	S336P	probably benign	Het
Tmem101	T	A	11: 102,044,119 (GRCm39)	D256V	probably damaging	Het
Trbv20	T	G	6: 41,165,210 (GRCm39)	L2V	unknown	Het
Trpc7	A	G	13: 56,970,274 (GRCm39)	S382P	probably damaging	Het
Tut4	C	A	4: 108,386,473 (GRCm39)	Y1114*	probably null	Het
Uhmk1	T	C	1: 170,040,095 (GRCm39)	T91A	possibly damaging	Het
Vmn2r10	T	A	5: 109,143,788 (GRCm39)	R721*	probably null	Het
Vmn2r94	T	A	17: 18,478,453 (GRCm39)	Y98F	possibly damaging	Het
Zfp532	A	G	18: 65,756,672 (GRCm39)	R202G	probably damaging	Het
Zfp827	T	C	8: 79,787,601 (GRCm39)	S256P	probably damaging	Het
Zzef1	T	C	11: 72,792,214 (GRCm39)	I2266T	probably damaging	Het

Other mutations in Prtg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Prtg	APN	9	72,716,926 (GRCm39)	missense	probably damaging	1.00
IGL00942:Prtg	APN	9	72,799,622 (GRCm39)	missense	possibly damaging	0.82
IGL01821:Prtg	APN	9	72,819,219 (GRCm39)	missense	probably damaging	0.98
IGL01901:Prtg	APN	9	72,762,348 (GRCm39)	missense	probably damaging	1.00
IGL02143:Prtg	APN	9	72,799,606 (GRCm39)	missense	probably damaging	1.00
IGL02232:Prtg	APN	9	72,758,771 (GRCm39)	missense	probably damaging	1.00
IGL02510:Prtg	APN	9	72,798,151 (GRCm39)	missense	probably damaging	0.99
IGL02739:Prtg	APN	9	72,758,867 (GRCm39)	missense	possibly damaging	0.92
IGL03136:Prtg	APN	9	72,764,267 (GRCm39)	missense	possibly damaging	0.91
FR4548:Prtg	UTSW	9	72,764,363 (GRCm39)	critical splice donor site	probably benign
FR4589:Prtg	UTSW	9	72,764,147 (GRCm39)	missense	probably damaging	1.00
FR4737:Prtg	UTSW	9	72,764,363 (GRCm39)	critical splice donor site	probably benign
R0130:Prtg	UTSW	9	72,716,998 (GRCm39)	missense	probably damaging	1.00
R0321:Prtg	UTSW	9	72,755,307 (GRCm39)	missense	possibly damaging	0.83
R0390:Prtg	UTSW	9	72,752,240 (GRCm39)	missense	probably benign	0.24
R0900:Prtg	UTSW	9	72,752,225 (GRCm39)	missense	probably benign
R1121:Prtg	UTSW	9	72,813,449 (GRCm39)	missense	probably benign	0.15
R1438:Prtg	UTSW	9	72,818,032 (GRCm39)	splice site	probably benign
R1537:Prtg	UTSW	9	72,717,039 (GRCm39)	missense	probably benign	0.00
R1590:Prtg	UTSW	9	72,750,089 (GRCm39)	missense	probably benign
R1626:Prtg	UTSW	9	72,752,193 (GRCm39)	missense	probably damaging	1.00
R1965:Prtg	UTSW	9	72,755,604 (GRCm39)	missense	probably benign	0.27
R1993:Prtg	UTSW	9	72,752,178 (GRCm39)	missense	probably benign
R2351:Prtg	UTSW	9	72,764,106 (GRCm39)	missense	probably damaging	1.00
R3737:Prtg	UTSW	9	72,749,991 (GRCm39)	nonsense	probably null
R3921:Prtg	UTSW	9	72,755,629 (GRCm39)	missense	probably damaging	0.98
R4035:Prtg	UTSW	9	72,749,991 (GRCm39)	nonsense	probably null
R4378:Prtg	UTSW	9	72,750,042 (GRCm39)	missense	possibly damaging	0.91
R4687:Prtg	UTSW	9	72,798,080 (GRCm39)	missense	probably damaging	1.00
R5469:Prtg	UTSW	9	72,799,247 (GRCm39)	missense	probably damaging	0.98
R5556:Prtg	UTSW	9	72,758,986 (GRCm39)	missense	probably damaging	1.00
R5563:Prtg	UTSW	9	72,764,180 (GRCm39)	missense	probably damaging	1.00
R5710:Prtg	UTSW	9	72,716,922 (GRCm39)	missense	probably damaging	1.00
R5738:Prtg	UTSW	9	72,819,288 (GRCm39)	missense	probably benign	0.16
R5868:Prtg	UTSW	9	72,716,999 (GRCm39)	nonsense	probably null
R5961:Prtg	UTSW	9	72,764,228 (GRCm39)	missense	probably benign
R5964:Prtg	UTSW	9	72,799,536 (GRCm39)	missense	probably benign	0.41
R6217:Prtg	UTSW	9	72,812,076 (GRCm39)	missense	probably damaging	1.00
R6306:Prtg	UTSW	9	72,813,468 (GRCm39)	missense	probably benign	0.42
R6395:Prtg	UTSW	9	72,819,414 (GRCm39)	missense	possibly damaging	0.80
R6455:Prtg	UTSW	9	72,815,138 (GRCm39)	missense	probably damaging	1.00
R6673:Prtg	UTSW	9	72,758,964 (GRCm39)	missense	probably damaging	0.99
R6985:Prtg	UTSW	9	72,758,783 (GRCm39)	missense	probably damaging	1.00
R7014:Prtg	UTSW	9	72,799,267 (GRCm39)	missense	possibly damaging	0.95
R7233:Prtg	UTSW	9	72,819,273 (GRCm39)	missense	probably benign	0.00
R7261:Prtg	UTSW	9	72,815,117 (GRCm39)	missense	possibly damaging	0.94
R7324:Prtg	UTSW	9	72,798,122 (GRCm39)	missense	probably damaging	0.96
R7372:Prtg	UTSW	9	72,758,848 (GRCm39)	nonsense	probably null
R7808:Prtg	UTSW	9	72,749,979 (GRCm39)	missense	possibly damaging	0.81
R8069:Prtg	UTSW	9	72,752,265 (GRCm39)	missense	probably benign	0.10
R8262:Prtg	UTSW	9	72,813,520 (GRCm39)	missense	probably benign	0.00
R8280:Prtg	UTSW	9	72,813,433 (GRCm39)	missense	probably damaging	0.99
R8290:Prtg	UTSW	9	72,798,077 (GRCm39)	missense	probably damaging	1.00
R8511:Prtg	UTSW	9	72,798,156 (GRCm39)	critical splice donor site	probably null
R8773:Prtg	UTSW	9	72,819,583 (GRCm39)	makesense	probably null
R9020:Prtg	UTSW	9	72,799,277 (GRCm39)	missense	probably damaging	0.98
R9104:Prtg	UTSW	9	72,755,607 (GRCm39)	missense	probably damaging	1.00
R9166:Prtg	UTSW	9	72,764,107 (GRCm39)	missense	probably damaging	1.00
R9186:Prtg	UTSW	9	72,764,159 (GRCm39)	missense	probably benign	0.34
R9256:Prtg	UTSW	9	72,758,977 (GRCm39)	missense	probably damaging	0.99
R9277:Prtg	UTSW	9	72,716,929 (GRCm39)	missense	probably benign	0.02
R9383:Prtg	UTSW	9	72,757,143 (GRCm39)	missense	probably benign	0.39
R9402:Prtg	UTSW	9	72,819,253 (GRCm39)	missense	probably benign	0.37
R9564:Prtg	UTSW	9	72,766,153 (GRCm39)	missense	probably damaging	0.99
R9644:Prtg	UTSW	9	72,813,493 (GRCm39)	missense	probably damaging	0.99
R9700:Prtg	UTSW	9	72,762,313 (GRCm39)	missense	probably benign
X0028:Prtg	UTSW	9	72,758,998 (GRCm39)	missense	possibly damaging	0.55
X0064:Prtg	UTSW	9	72,812,174 (GRCm39)	splice site	probably null
Z1176:Prtg	UTSW	9	72,801,250 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16