Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03136:Prtg'

410526

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 #

IGL03136

Quality Score

Status

Chromosome

Chromosomal Location

72714556-72824589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 72764267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 580 (V580G)

Ref Sequence

ENSEMBL: ENSMUSP00000055815 (fasta)

Gene Model

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

AlphaFold

Q2EY15

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055535
AA Change: V580G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030
AA Change: V580G

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	A	G	11: 25,719,122 (GRCm39)	L7S	unknown	Het
Abr	C	T	11: 76,316,121 (GRCm39)	W571*	probably null	Het
Adam18	A	T	8: 25,131,852 (GRCm39)	C420S	probably damaging	Het
Akap5	G	T	12: 76,376,649 (GRCm39)	E694*	probably null	Het
Bbs1	T	C	19: 4,941,019 (GRCm39)	K565R	probably benign	Het
Brix1	A	G	15: 10,478,852 (GRCm39)	F189S	probably damaging	Het
Cnot4	C	A	6: 35,028,176 (GRCm39)	R480L	probably damaging	Het
Ctu2	A	G	8: 123,205,940 (GRCm39)		probably benign	Het
Dhcr7	A	G	7: 143,401,103 (GRCm39)	H422R	probably damaging	Het
Dock1	A	G	7: 134,770,118 (GRCm39)	M1793V	probably benign	Het
Dock7	A	G	4: 98,892,028 (GRCm39)	F853L	probably damaging	Het
Fkbp15	G	A	4: 62,258,466 (GRCm39)		probably benign	Het
Ftsj3	C	T	11: 106,144,639 (GRCm39)	D117N	probably damaging	Het
Gphn	A	G	12: 78,528,107 (GRCm39)	I142V	possibly damaging	Het
Hsd3b1	G	A	3: 98,760,301 (GRCm39)	A230V	probably damaging	Het
Hydin	G	A	8: 111,145,156 (GRCm39)	A836T	probably benign	Het
Ift52	G	T	2: 162,867,254 (GRCm39)	E71*	probably null	Het
Ms4a14	T	C	19: 11,281,775 (GRCm39)	D261G	possibly damaging	Het
Nid1	G	A	13: 13,675,084 (GRCm39)	V935I	probably benign	Het
Nrap	T	C	19: 56,330,687 (GRCm39)	K1008E	possibly damaging	Het
Nup210	A	C	6: 91,005,843 (GRCm39)	V1340G	probably benign	Het
Or2aj4	A	T	16: 19,385,103 (GRCm39)	F177I	probably damaging	Het
Or5b94	T	A	19: 12,652,331 (GRCm39)	I254N	probably damaging	Het
Or8d6	T	C	9: 39,854,332 (GRCm39)	Y259H	probably damaging	Het
Pcdhb15	C	A	18: 37,608,067 (GRCm39)	T433N	probably damaging	Het
Pdcd6ip	T	A	9: 113,520,567 (GRCm39)	N139I	probably damaging	Het
Pgbd1	A	G	13: 21,617,609 (GRCm39)	V80A	possibly damaging	Het
Pigw	A	G	11: 84,768,603 (GRCm39)	I242T	probably benign	Het
Ptpn13	T	A	5: 103,691,329 (GRCm39)	N1065K	possibly damaging	Het
Qrich1	G	A	9: 108,422,117 (GRCm39)	R577H	probably damaging	Het
Ryr3	G	A	2: 112,506,319 (GRCm39)		probably benign	Het
Selenoi	T	C	5: 30,462,725 (GRCm39)	Y197H	probably damaging	Het
Slc47a2	A	G	11: 61,201,591 (GRCm39)	C343R	probably benign	Het
Smurf2	A	T	11: 106,721,874 (GRCm39)	D527E	probably benign	Het
Spam1	C	T	6: 24,797,010 (GRCm39)		probably benign	Het
Stkld1	T	C	2: 26,841,435 (GRCm39)	V460A	probably benign	Het
Tgoln1	G	A	6: 72,591,096 (GRCm39)	R339W	probably damaging	Het
Tprg1	T	C	16: 25,231,512 (GRCm39)		probably benign	Het
Treml1	T	G	17: 48,671,879 (GRCm39)		probably benign	Het
Ttc39b	A	T	4: 83,155,517 (GRCm39)	V497E	probably damaging	Het
Vmn1r223	A	G	13: 23,433,933 (GRCm39)	T176A	possibly damaging	Het
Vmn2r75	A	T	7: 85,797,911 (GRCm39)	I634N	possibly damaging	Het
Vps13c	A	G	9: 67,857,592 (GRCm39)	E2608G	probably damaging	Het
Zfp575	A	G	7: 24,285,381 (GRCm39)	C87R	probably damaging	Het
Zfp790	T	A	7: 29,529,320 (GRCm39)	Y668*	probably null	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
IGL02451:Prtg	APN	9	72,764,281 (GRCm39)	missense	possibly damaging	0.95
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
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

2016-08-02