Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00942:Prtg'

28194

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 #

IGL00942

Quality Score

Status

Chromosome

Chromosomal Location

72714556-72824589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72799622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 807 (S807P)

Ref Sequence

ENSEMBL: ENSMUSP00000055815 (fasta)

Gene Model

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

AlphaFold

Q2EY15

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055535
AA Change: S807P

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030
AA Change: S807P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193259

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	A	C	5: 62,855,732 (GRCm39)	L568*	probably null	Het
Arfgef2	G	A	2: 166,727,773 (GRCm39)	V1574M	probably damaging	Het
Arhgef12	C	T	9: 42,893,296 (GRCm39)	R969H	probably damaging	Het
Cacng1	A	T	11: 107,595,195 (GRCm39)	F127L	probably benign	Het
Cntnap5c	T	C	17: 58,076,593 (GRCm39)	V10A	probably benign	Het
Crtac1	T	G	19: 42,312,233 (GRCm39)	D160A	probably damaging	Het
Csmd3	C	T	15: 47,710,502 (GRCm39)		probably null	Het
Grin3a	A	G	4: 49,770,589 (GRCm39)	F728L	probably damaging	Het
H3c1	T	C	13: 23,945,921 (GRCm39)		probably benign	Het
Hecw1	C	T	13: 14,515,325 (GRCm39)		probably benign	Het
Iyd	C	T	10: 3,554,070 (GRCm38)	C239F	probably damaging	Het
Madd	A	G	2: 91,000,923 (GRCm39)	V486A	probably damaging	Het
Map3k7	A	G	4: 32,019,539 (GRCm39)	D533G	probably damaging	Het
Matk	A	G	10: 81,094,128 (GRCm39)	D20G	probably benign	Het
Mphosph10	A	G	7: 64,039,503 (GRCm39)	S156P	probably benign	Het
Mtif2	G	A	11: 29,488,753 (GRCm39)	E356K	probably damaging	Het
Ndufb10	T	C	17: 24,943,158 (GRCm39)		probably null	Het
Nipal3	A	T	4: 135,195,904 (GRCm39)	L233Q	possibly damaging	Het
Or7e169	T	C	9: 19,757,555 (GRCm39)	Y120C	probably damaging	Het
Prss32	T	A	17: 24,078,134 (GRCm39)	C273*	probably null	Het
Ric3	T	G	7: 108,653,619 (GRCm39)	E157D	probably damaging	Het
Ric3	T	A	7: 108,653,620 (GRCm39)	E157V	probably damaging	Het
Slc16a14	G	A	1: 84,900,592 (GRCm39)	T131I	probably damaging	Het
Slc1a2	A	T	2: 102,570,159 (GRCm39)	N137Y	probably damaging	Het
Slc25a27	T	C	17: 43,974,980 (GRCm39)	I94V	probably benign	Het
Slco1a1	G	A	6: 141,892,354 (GRCm39)	T4I	probably benign	Het
Slf1	A	T	13: 77,192,066 (GRCm39)	F923I	possibly damaging	Het
Taf7l2	A	G	10: 115,949,341 (GRCm39)	S62P	possibly damaging	Het
Ttll12	A	C	15: 83,466,649 (GRCm39)	V306G	possibly damaging	Het
Tulp2	G	A	7: 45,165,692 (GRCm39)	V97I	possibly damaging	Het
Vmn2r65	T	G	7: 84,592,761 (GRCm39)	Q482P	probably damaging	Het
Wdr24	T	A	17: 26,045,595 (GRCm39)	N443K	probably benign	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
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
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

2013-04-17