Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01901:Prtg'

179540

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 #

IGL01901

Quality Score

Status

Chromosome

Chromosomal Location

72714556-72824589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72762348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 492 (P492S)

Ref Sequence

ENSEMBL: ENSMUSP00000055815 (fasta)

Gene Model

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

AlphaFold

Q2EY15

Predicted Effect

probably damaging
Transcript: ENSMUST00000055535
AA Change: P492S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030
AA Change: P492S

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
Adam2	A	G	14: 66,272,678 (GRCm39)		probably benign	Het
Aldh1a7	T	G	19: 20,695,103 (GRCm39)	Y154S	probably damaging	Het
Casc3	A	G	11: 98,713,947 (GRCm39)	D393G	probably damaging	Het
Cd180	A	G	13: 102,842,936 (GRCm39)	I661V	probably benign	Het
Cdh1	T	C	8: 107,384,392 (GRCm39)	S287P	probably damaging	Het
Clnk	T	C	5: 38,952,321 (GRCm39)	N6S	probably damaging	Het
Cstdc6	C	A	16: 36,154,625 (GRCm39)	A11S	probably damaging	Het
Cyp17a1	C	T	19: 46,659,531 (GRCm39)	V100M	possibly damaging	Het
Ddhd2	A	G	8: 26,238,621 (GRCm39)	V53A	probably damaging	Het
Elovl7	T	A	13: 108,410,927 (GRCm39)		probably null	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm14180	A	G	11: 99,625,053 (GRCm39)	S22P	unknown	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Golga5	G	A	12: 102,446,061 (GRCm39)		probably null	Het
Gpr162	A	T	6: 124,838,370 (GRCm39)	F93L	possibly damaging	Het
Kcnh8	G	A	17: 53,201,148 (GRCm39)		probably benign	Het
Lamp3	A	T	16: 19,492,169 (GRCm39)	F358L	probably damaging	Het
Mdn1	T	G	4: 32,669,591 (GRCm39)	D409E	probably damaging	Het
Ms4a10	T	C	19: 10,940,374 (GRCm39)	D211G	probably benign	Het
Ms4a3	T	C	19: 11,616,630 (GRCm39)	E4G	possibly damaging	Het
Myo15a	A	G	11: 60,418,260 (GRCm39)		probably benign	Het
Or2ag16	A	G	7: 106,351,752 (GRCm39)	V281A	possibly damaging	Het
Or4c10b	A	G	2: 89,711,826 (GRCm39)	I219V	probably damaging	Het
Or51aa2	A	T	7: 103,188,177 (GRCm39)	L88Q	probably damaging	Het
Or51q1c	A	G	7: 103,653,274 (GRCm39)	H264R	probably damaging	Het
Or5b12	T	C	19: 12,896,947 (GRCm39)	H242R	probably damaging	Het
Or6c217	A	G	10: 129,737,722 (GRCm39)	F286L	probably benign	Het
Penk	T	C	4: 4,134,465 (GRCm39)	I61V	probably benign	Het
Pkhd1	T	A	1: 20,290,307 (GRCm39)	K2860N	probably benign	Het
Spata31e2	A	G	1: 26,721,665 (GRCm39)	F1172L	probably benign	Het
Tdrd7	T	C	4: 45,989,225 (GRCm39)		probably benign	Het
Terf2ip	A	G	8: 112,738,700 (GRCm39)	N196S	probably benign	Het
Tgtp1	T	C	11: 48,878,382 (GRCm39)	N108D	possibly damaging	Het
Thumpd3	A	G	6: 113,036,932 (GRCm39)	H277R	probably benign	Het
Tshz2	T	A	2: 169,727,456 (GRCm39)	L215Q	possibly damaging	Het
Ube3c	T	A	5: 29,873,005 (GRCm39)	V1015E	probably damaging	Het
Utrn	T	A	10: 12,516,672 (GRCm39)	K2307N	probably damaging	Het
Vmn1r75	A	G	7: 11,614,739 (GRCm39)	Y157C	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	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
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

2014-05-07