Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02510:Prtg'

296488

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: 0.622) question?

Stock #

IGL02510

Quality Score

Status

Chromosome

Chromosomal Location

72714556-72824589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72798151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 706 (V706M)

Ref Sequence

ENSEMBL: ENSMUSP00000055815 (fasta)

Gene Model

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

AlphaFold

Q2EY15

Predicted Effect

probably damaging
Transcript: ENSMUST00000055535
AA Change: V706M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030
AA Change: V706M

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	G	A	1: 171,078,959 (GRCm39)	S193N	probably benign	Het
Arrdc1	C	A	2: 24,825,112 (GRCm39)	V16F	probably damaging	Het
Bhmt1b	A	G	18: 87,775,653 (GRCm39)	Q392R	probably benign	Het
Bsx	A	T	9: 40,785,517 (GRCm39)	Q15L	possibly damaging	Het
Casp8ap2	A	G	4: 32,639,704 (GRCm39)	T253A	probably benign	Het
Cdkl3	T	C	11: 51,902,097 (GRCm39)	L102P	probably damaging	Het
Cgnl1	G	T	9: 71,632,639 (GRCm39)	N237K	probably benign	Het
Cldn14	T	A	16: 93,716,844 (GRCm39)	M1L	probably damaging	Het
Col1a2	C	T	6: 4,516,398 (GRCm39)	R171C	unknown	Het
Col7a1	C	A	9: 108,802,299 (GRCm39)		probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dhrs2	G	A	14: 55,473,532 (GRCm39)	V64M	probably damaging	Het
Disp3	G	A	4: 148,337,158 (GRCm39)	H886Y	probably benign	Het
Dst	G	A	1: 34,268,332 (GRCm39)		probably null	Het
Fnbp4	T	C	2: 90,581,819 (GRCm39)	V215A	probably benign	Het
Fzd9	A	G	5: 135,278,469 (GRCm39)	L472P	probably damaging	Het
Hpd	C	T	5: 123,319,973 (GRCm39)	R15Q	possibly damaging	Het
Htra2	A	G	6: 83,028,592 (GRCm39)	V412A	probably damaging	Het
Ift80	A	G	3: 68,805,876 (GRCm39)	F722S	probably benign	Het
Kcnq2	T	C	2: 180,723,154 (GRCm39)	T741A	probably benign	Het
Kl	A	C	5: 150,912,466 (GRCm39)	E738D	probably damaging	Het
Klra4	T	A	6: 130,036,506 (GRCm39)	I178L	probably damaging	Het
Klra9	T	C	6: 130,168,185 (GRCm39)	E27G	probably benign	Het
Kntc1	T	C	5: 123,957,125 (GRCm39)	Y2145H	probably benign	Het
Mbd5	T	A	2: 49,147,041 (GRCm39)	M417K	probably benign	Het
Med31	C	T	11: 72,102,882 (GRCm39)	M75I	probably benign	Het
Mpeg1	A	T	19: 12,438,788 (GRCm39)	D82V	probably damaging	Het
Msto1	A	G	3: 88,817,652 (GRCm39)	Y439H	probably damaging	Het
Or1e17	G	A	11: 73,831,831 (GRCm39)	G253E	probably damaging	Het
Or1j15	T	C	2: 36,458,693 (GRCm39)	S28P	possibly damaging	Het
Or2av9	T	C	11: 58,381,365 (GRCm39)	Y72C	probably damaging	Het
Or5p64	T	A	7: 107,855,348 (GRCm39)		probably benign	Het
Sfxn2	G	T	19: 46,576,711 (GRCm39)	A186S	probably benign	Het
Slc12a5	A	T	2: 164,824,728 (GRCm39)		probably benign	Het
Slc7a3	T	C	X: 100,126,439 (GRCm39)	E222G	probably benign	Het
Stox1	A	T	10: 62,499,826 (GRCm39)	H911Q	probably benign	Het
Sult3a2	A	T	10: 33,642,435 (GRCm39)	N289K	probably benign	Het
Supt20	A	G	3: 54,622,945 (GRCm39)		probably benign	Het
Tchh	A	G	3: 93,351,385 (GRCm39)	E275G	unknown	Het
Tectb	A	T	19: 55,179,943 (GRCm39)	N263I	probably damaging	Het
Tsga10	C	T	1: 37,800,066 (GRCm39)	R608Q	possibly damaging	Het
Ttyh3	A	G	5: 140,615,219 (GRCm39)	Y390H	probably damaging	Het
Utf1	C	A	7: 139,523,929 (GRCm39)	S48*	probably null	Het
Zfp358	G	A	8: 3,546,786 (GRCm39)	G456D	probably benign	Het
Zup1	A	G	10: 33,806,150 (GRCm39)		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
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