Mutagenetix > Incidental Mutation

Incidental Mutation 'R9383:Prtg'

710163

Institutional Source

Beutler Lab

Gene Symbol

Prtg

Ensembl Gene

ENSMUSG00000036030

Gene Name

protogenin

Synonyms

Igdcc5, A230098A12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.637) question?

Stock #

R9383 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72806874-72917291 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 72849861 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 355 (L355F)

Ref Sequence

ENSEMBL: ENSMUSP00000055815 (fasta)

Gene Model

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

AlphaFold

Q2EY15

Predicted Effect

probably benign
Transcript: ENSMUST00000055535
AA Change: L355F

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030
AA Change: L355F

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	A	G	8: 94,934,534	E124G		Het
Atp1a2	T	C	1: 172,279,767	I729V	probably benign	Het
Chd2	T	A	7: 73,449,170	E1467V	probably null	Het
Col6a5	T	C	9: 105,925,911	D1285G	unknown	Het
Coro7	A	G	16: 4,635,024	C287R	probably damaging	Het
Cpa3	T	C	3: 20,228,881	E134G	probably benign	Het
Csf3r	C	T	4: 126,043,446	P708S	possibly damaging	Het
Ctgf	T	G	10: 24,595,985	V58G	possibly damaging	Het
Defb30	T	C	14: 63,036,014	E49G	probably benign	Het
Dnah3	A	T	7: 120,047,596	I1070K	probably benign	Het
Dnm2	G	A	9: 21,472,624	V234M	probably damaging	Het
Drg2	T	A	11: 60,459,461	M82K	probably benign	Het
Dus2	G	A	8: 106,050,318	E312K	probably benign	Het
Efcab6	T	C	15: 83,872,419	E1240G	possibly damaging	Het
Ep400	T	C	5: 110,685,485	E1957G	unknown	Het
Gpnmb	A	G	6: 49,051,984	S479G	probably damaging	Het
Gpr153	T	C	4: 152,283,059	S456P	probably benign	Het
Gprc5b	A	T	7: 118,976,538	M388K	probably damaging	Het
H2-T23	T	C	17: 36,032,335	D50G	possibly damaging	Het
Hipk1	T	C	3: 103,777,567	E244G	probably damaging	Het
Malrd1	T	A	2: 15,695,201	C620S	unknown	Het
Maz	G	A	7: 127,024,911	Q358*	probably null	Het
Mcc	A	T	18: 44,442,918	I901N	probably benign	Het
Megf11	T	G	9: 64,638,450	C172G	probably damaging	Het
Mipol1	A	G	12: 57,306,034	Y53C	probably benign	Het
Nectin4	C	T	1: 171,385,683	T391I	probably damaging	Het
Nell2	A	T	15: 95,385,076	Y362N	possibly damaging	Het
Nphp4	T	C	4: 152,544,461		probably null	Het
Nsun4	A	G	4: 116,034,276	V302A	probably benign	Het
Odf2	T	A	2: 29,901,237	L181H	probably damaging	Het
Olfr1076	T	C	2: 86,508,510	I17T	probably damaging	Het
Opn1sw	A	G	6: 29,378,001	S328P	possibly damaging	Het
Pga5	C	T	19: 10,669,533	G303S	probably damaging	Het
Pik3c2g	T	A	6: 139,882,016	Y712*	probably null	Het
Pkd1	C	T	17: 24,575,926	R2196C	probably damaging	Het
Pkd1l3	TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA	TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA	8: 109,623,969		probably benign	Het
Plekhm2	A	T	4: 141,632,301	M385K	probably damaging	Het
Pole	T	C	5: 110,291,026	V164A	possibly damaging	Het
Prr19	T	A	7: 25,302,910	F11Y	probably damaging	Het
Raph1	C	A	1: 60,525,670	M219I	unknown	Het
Rtkn2	A	G	10: 68,003,264	D140G	possibly damaging	Het
Serpina5	T	C	12: 104,103,872	S343P	probably damaging	Het
Slc1a1	A	G	19: 28,911,725	K466R	probably benign	Het
Slc43a1	G	A	2: 84,860,162	V518M	probably damaging	Het
Slc47a2	A	G	11: 61,336,923	L125P	probably damaging	Het
Slc4a7	C	A	14: 14,766,803	C585*	probably null	Het
Snx19	A	G	9: 30,435,900	E713G	probably damaging	Het
Tiam1	C	T	16: 89,858,673	V715M	probably damaging	Het
Tln2	T	A	9: 67,370,761	M322L	probably benign	Het
Top2a	G	A	11: 99,011,058	R449*	probably null	Het
Trpv4	C	A	5: 114,658,413		probably benign	Het
Vmn1r214	A	C	13: 23,034,925	R196S	probably benign	Het
Vmn1r43	A	T	6: 89,869,570	H311Q	possibly damaging	Het
Vmn1r54	A	G	6: 90,270,027	T308A	probably benign	Het
Zfand3	T	A	17: 30,135,505	Y99N	probably benign	Het
Zfp119b	T	C	17: 55,939,355	Y277C	probably damaging	Het
Zfp345	G	A	2: 150,472,583	H345Y	possibly damaging	Het
Zyg11a	T	C	4: 108,189,729	E516G	probably damaging	Het

Other mutations in Prtg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Prtg	APN	9	72809644	missense	probably damaging	1.00
IGL00942:Prtg	APN	9	72892340	missense	possibly damaging	0.82
IGL01821:Prtg	APN	9	72911937	missense	probably damaging	0.98
IGL01901:Prtg	APN	9	72855066	missense	probably damaging	1.00
IGL02143:Prtg	APN	9	72892324	missense	probably damaging	1.00
IGL02232:Prtg	APN	9	72851489	missense	probably damaging	1.00
IGL02451:Prtg	APN	9	72856999	missense	possibly damaging	0.95
IGL02510:Prtg	APN	9	72890869	missense	probably damaging	0.99
IGL02739:Prtg	APN	9	72851585	missense	possibly damaging	0.92
IGL03136:Prtg	APN	9	72856985	missense	possibly damaging	0.91
FR4548:Prtg	UTSW	9	72857081	critical splice donor site	probably benign
FR4589:Prtg	UTSW	9	72856865	missense	probably damaging	1.00
FR4737:Prtg	UTSW	9	72857081	critical splice donor site	probably benign
R0130:Prtg	UTSW	9	72809716	missense	probably damaging	1.00
R0321:Prtg	UTSW	9	72848025	missense	possibly damaging	0.83
R0390:Prtg	UTSW	9	72844958	missense	probably benign	0.24
R0900:Prtg	UTSW	9	72844943	missense	probably benign
R1121:Prtg	UTSW	9	72906167	missense	probably benign	0.15
R1438:Prtg	UTSW	9	72910750	splice site	probably benign
R1537:Prtg	UTSW	9	72809757	missense	probably benign	0.00
R1590:Prtg	UTSW	9	72842807	missense	probably benign
R1626:Prtg	UTSW	9	72844911	missense	probably damaging	1.00
R1965:Prtg	UTSW	9	72848322	missense	probably benign	0.27
R1993:Prtg	UTSW	9	72844896	missense	probably benign
R2351:Prtg	UTSW	9	72856824	missense	probably damaging	1.00
R3737:Prtg	UTSW	9	72842709	nonsense	probably null
R3921:Prtg	UTSW	9	72848347	missense	probably damaging	0.98
R4035:Prtg	UTSW	9	72842709	nonsense	probably null
R4378:Prtg	UTSW	9	72842760	missense	possibly damaging	0.91
R4687:Prtg	UTSW	9	72890798	missense	probably damaging	1.00
R5469:Prtg	UTSW	9	72891965	missense	probably damaging	0.98
R5556:Prtg	UTSW	9	72851704	missense	probably damaging	1.00
R5563:Prtg	UTSW	9	72856898	missense	probably damaging	1.00
R5710:Prtg	UTSW	9	72809640	missense	probably damaging	1.00
R5738:Prtg	UTSW	9	72912006	missense	probably benign	0.16
R5868:Prtg	UTSW	9	72809717	nonsense	probably null
R5961:Prtg	UTSW	9	72856946	missense	probably benign
R5964:Prtg	UTSW	9	72892254	missense	probably benign	0.41
R6217:Prtg	UTSW	9	72904794	missense	probably damaging	1.00
R6306:Prtg	UTSW	9	72906186	missense	probably benign	0.42
R6395:Prtg	UTSW	9	72912132	missense	possibly damaging	0.80
R6455:Prtg	UTSW	9	72907856	missense	probably damaging	1.00
R6673:Prtg	UTSW	9	72851682	missense	probably damaging	0.99
R6985:Prtg	UTSW	9	72851501	missense	probably damaging	1.00
R7014:Prtg	UTSW	9	72891985	missense	possibly damaging	0.95
R7233:Prtg	UTSW	9	72911991	missense	probably benign	0.00
R7261:Prtg	UTSW	9	72907835	missense	possibly damaging	0.94
R7324:Prtg	UTSW	9	72890840	missense	probably damaging	0.96
R7372:Prtg	UTSW	9	72851566	nonsense	probably null
R7808:Prtg	UTSW	9	72842697	missense	possibly damaging	0.81
R8069:Prtg	UTSW	9	72844983	missense	probably benign	0.10
R8262:Prtg	UTSW	9	72906238	missense	probably benign	0.00
R8280:Prtg	UTSW	9	72906151	missense	probably damaging	0.99
R8290:Prtg	UTSW	9	72890795	missense	probably damaging	1.00
R8511:Prtg	UTSW	9	72890874	critical splice donor site	probably null
R8773:Prtg	UTSW	9	72912301	makesense	probably null
R9020:Prtg	UTSW	9	72891995	missense	probably damaging	0.98
R9104:Prtg	UTSW	9	72848325	missense	probably damaging	1.00
R9166:Prtg	UTSW	9	72856825	missense	probably damaging	1.00
R9186:Prtg	UTSW	9	72856877	missense	probably benign	0.34
R9256:Prtg	UTSW	9	72851695	missense	probably damaging	0.99
R9277:Prtg	UTSW	9	72809647	missense	probably benign	0.02
R9402:Prtg	UTSW	9	72911971	missense	probably benign	0.37
R9564:Prtg	UTSW	9	72858871	missense	probably damaging	0.99
R9644:Prtg	UTSW	9	72906211	missense	probably damaging	0.99
R9700:Prtg	UTSW	9	72855031	missense	probably benign
X0028:Prtg	UTSW	9	72851716	missense	possibly damaging	0.55
X0064:Prtg	UTSW	9	72904892	splice site	probably null
Z1176:Prtg	UTSW	9	72893968	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGACATCTTTGTACATGGGACTC -3'
(R):5'- AGCATATCACTTTGGATCCGTG -3'

Sequencing Primer
(F):5'- ACATCTTTGTACATGGGACTCATCTC -3'
(R):5'- GGATCGACAACACACTAATGCTATAG -3'

Posted On

2022-04-18