Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4548:Prtg'

512071

Institutional Source

Beutler Lab

Gene Symbol

Prtg

Ensembl Gene

ENSMUSG00000036030

Gene Name

protogenin

Synonyms

Igdcc5, A230098A12Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.645) question?

Stock #

FR4548 ()

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

72806874-72917291 bp(+) (GRCm38)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

GTAAC to G at 72857081 bp (GRCm38)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000055815 (fasta)

Gene Model

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

AlphaFold

Q2EY15

Predicted Effect

probably benign
Transcript: ENSMUST00000055535

SMART Domains

Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030

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: 99.8%
3x: 99.5%
10x: 98.3%
20x: 94.9%

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: 147 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	CTT	CTTTTT	12: 110,668,449		probably benign	Het
1700001K19Rik	CTT	CTTTTT	12: 110,668,452		probably benign	Het
2010300C02Rik	T	A	1: 37,625,035	E594V	probably benign	Homo
2010300C02Rik	C	A	1: 37,625,036	E594*	probably null	Homo
2010300C02Rik	A	G	1: 37,625,102	S47P	probably damaging	Homo
4930433I11Rik	ACCTC	AC	7: 40,993,056		probably benign	Het
4932415D10Rik	G	GTCATTA	10: 82,290,996		probably benign	Homo
Abt1	TTCTTGCT	TT	13: 23,423,711		probably benign	Het
Ahdc1	TCC	TCCCCC	4: 133,062,757		probably benign	Homo
Ahdc1	T	TCCC	4: 133,062,760		probably benign	Homo
AI837181	CGG	CGGGGG	19: 5,425,231		probably benign	Het
AI837181	CG	CGGGG	19: 5,425,237		probably benign	Het
Anxa2	CCC	CCCTCC	9: 69,480,203		probably benign	Het
Anxa7	C	T	14: 20,469,411	G113E	probably damaging	Homo
Apc	CCAATAAAG	CCAATAAAGACAATAAAG	18: 34,281,998		probably benign	Het
Apol6	T	TGTTA	15: 77,051,445		probably null	Homo
BC051142	GCA	GCATCA	17: 34,460,065		probably benign	Het
Blm	CTAC	CTACTTAC	7: 80,463,769		probably null	Homo
Brd2	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAA	17: 34,116,336		probably benign	Het
Bud31	C	T	5: 145,146,535	R63C	probably benign	Het
C4b	C	T	17: 34,740,997	R335H	probably benign	Het
Cacna1a	ACC	ACCCCC	8: 84,638,717		probably benign	Het
Cacna1f	AGG	AGGGGG	X: 7,620,058		probably benign	Het
Ccdc170	ACC	ACCCCC	10: 4,561,026		probably benign	Het
Cckbr	GGGC	G	7: 105,434,681		probably benign	Homo
Cd3eap	GGATG	GG	7: 19,357,244		probably benign	Homo
Cd80	GAAA	GAAAAAA	16: 38,486,319		probably benign	Homo
Ces1b	T	C	8: 93,068,092	N293S	probably null	Homo
Cgnl1	CGC	CGCGGC	9: 71,724,717		probably benign	Het
Cntnap1	CCCAGC	CCCAGCGCCAGC	11: 101,189,572		probably benign	Het
Cntnap1	CCAGCC	CCAGCCTCAGCC	11: 101,189,579		probably benign	Het
Cntnap1	AGCC	AGCCCCCGCC	11: 101,189,593		probably benign	Het
Cntnap1	GCC	GCCCCAACC	11: 101,189,594		probably benign	Het
Ctsm	GTGA	GTGAATGA	13: 61,537,837		probably null	Homo
Cttnbp2	TGCTGC	TGCTGCCGCTGC	6: 18,367,463		probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,583,673		probably null	Het
Dusp10	G	T	1: 184,037,056	C73F	probably damaging	Homo
Efna4	ATGTGAT	A	3: 89,334,422		probably benign	Homo
Eif3a	A	ATTTTT	19: 60,775,291		probably benign	Homo
Ermn	TTC	TTCATC	2: 58,048,075		probably benign	Het
Ermn	TC	TCTCC	2: 58,048,088		probably benign	Het
Fbxo43	GTGCCT	GTGCCTATGCCT	15: 36,152,098		probably null	Het
Fscb	A	G	12: 64,472,563	S710P	unknown	Het
Fscb	T	A	12: 64,472,565	Q709L	unknown	Het
Glod4	A	C	11: 76,243,310		probably benign	Homo
Gm14401	A	G	2: 177,086,868	D249G	probably benign	Het
Gm4340	AGC	AGCCGC	10: 104,196,070		probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,196,073		probably benign	Het
Gm8104	C	T	14: 43,110,009	T178I	probably benign	Het
Gm8104	T	C	14: 43,110,011	S179P	probably damaging	Het
Gpatch11	GGAAGA	GGAAGACGAAGA	17: 78,842,175		probably benign	Het
H2-K1	GTTT	G	17: 33,997,042		probably benign	Homo
Hist1h1t	GAGAA	GA	13: 23,695,920		probably benign	Homo
Hspa1b	GCGCC	GC	17: 34,957,129		probably benign	Homo
Ifi211	G	A	1: 173,906,193	A134V	possibly damaging	Het
Igf1r	C	CTGGAGATGGAGG	7: 68,226,186		probably benign	Het
Igkv9-129	G	A	6: 67,840,034	V41I	probably damaging	Het
Ipo9	TCC	TCCCCC	1: 135,386,275		probably benign	Het
Kcng4	G	T	8: 119,633,519	Y39*	probably null	Homo
Klra2	AG	AGAAATCCACGG	6: 131,221,851		probably null	Het
Kmt2b	CTCC	CTCCTCGTCC	7: 30,586,380		probably benign	Het
Kng2	G	A	16: 23,000,552	Q245*	probably null	Het
Kri1	CTCCTCTTCCTC	CTCCTC	9: 21,281,050		probably benign	Het
Krt10	TCCTCC	TCCTCCCCCTCC	11: 99,389,273		probably benign	Het
Krt10	TCCTCCAC	TCCTCCACCTCCAC	11: 99,389,276		probably benign	Homo
Las1l	TC	TCTTCCGC	X: 95,940,625		probably benign	Het
Las1l	GAG	GAGAAG	X: 95,940,823		probably benign	Het
Lrit3	GCT	GCTACT	3: 129,788,813		probably benign	Het
Lrit3	GCT	GCTACT	3: 129,788,816		probably benign	Het
Lrrc63	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	14: 75,125,182		probably benign	Homo
Luzp1	CTCTTCAGA	CTCTTCAGAGGTGGCATCTTCAGA	4: 136,543,188		probably benign	Homo
Mast4	CA	CAGTGGGA	13: 102,736,318		probably benign	Homo
Med12l	AGC	AGCGGC	3: 59,275,982		probably benign	Het
Mn1	GCA	GCACCA	5: 111,419,698		probably benign	Het
Morn4	AGGCAGTGAG	AGGCAGTGAGTCCGGCAGTGAG	19: 42,076,109		probably benign	Het
Msantd4	A	T	9: 4,384,937	I221F	possibly damaging	Homo
Mup21	TATACTT	TATACTTTTTAAATACTT	4: 62,149,345		probably benign	Het
Mup21	ATACTT	ATACTTTTTATCTACTT	4: 62,149,346		probably benign	Het
Nacad	AGGGTC	AGGGTCGGGGTC	11: 6,599,752		probably benign	Het
Nacad	GG	GGCCAGTG	11: 6,599,760		probably benign	Het
Ncapd2	CTT	CTTGGTT	6: 125,173,596		probably benign	Homo
Nelfe	GACCGGGATCGAGACAGAGAC	GACCGGGATCGAGACAGAGACAAAGACCGGGATCGAGACAGAGAC	17: 34,854,070		probably benign	Homo
Nfxl1	CCGGGG	CCGGGGTCGGGG	5: 72,559,115		probably benign	Het
Nkx2-6	C	T	14: 69,175,229	T282M	probably damaging	Homo
Noc2l	AGGC	AGGCGGC	4: 156,240,092		probably benign	Homo
Noc2l	GC	GCTTC	4: 156,240,100		probably benign	Het
Nphp3	CACG	C	9: 104,025,939		probably benign	Het
Nrg3	TTG	TTGACACTG	14: 38,397,271		probably benign	Homo
Olfr313	T	A	11: 58,817,440	V144D	possibly damaging	Homo
Olfr318	T	G	11: 58,720,371	I226L	probably benign	Het
Olfr585	T	TTAG	7: 103,098,309		probably null	Homo
Olfr624	CAAA	CAAAAAA	7: 103,670,960		probably benign	Homo
Olfr624	G	GAAC	7: 103,670,967		probably null	Homo
Osmr	CTC	CTCTTC	15: 6,837,703		probably benign	Homo
Patl2	GCT	GCTCCT	2: 122,126,135		probably benign	Het
Pdik1l	ACCAC	ACCACCGCCAC	4: 134,279,512		probably benign	Homo
Phldb3	GACCC	G	7: 24,628,978		probably null	Het
Piezo1	G	A	8: 122,495,569	R503W	probably damaging	Homo
Pik3ap1	AG	AGGGG	19: 41,281,945		probably benign	Homo
Pkdrej	TG	TGGGAGCG	15: 85,819,680		probably benign	Homo
Ppp1r3f	C	A	X: 7,560,336	G562V	probably damaging	Homo
Prag1	GC	GCAAC	8: 36,103,885		probably benign	Homo
Prr13	TCC	TCCGCC	15: 102,462,174		probably benign	Het
Ptk2b	C	T	14: 66,173,849	R411Q	possibly damaging	Het
Ptms	TTC	TTCGTC	6: 124,914,456		probably benign	Het
Ptpn23	G	T	9: 110,387,633	P1052T	probably benign	Homo
Rbm33	AGCAGCCGCAGC	AGCAGC	5: 28,394,201		probably benign	Het
Setd1a	TGGTGGTGGT	TGGTGGTGGTGGTGGTGGT	7: 127,785,307		probably benign	Homo
Setd1a	TGGTAGTGG	TGGTAGTGGCGGTAGTGG	7: 127,785,313		probably benign	Homo
Sfswap	CCACTCAGC	CCACTCAGCGCACTCAGC	5: 129,569,749		probably benign	Het
Sfswap	AGCCCACTCGGCC	AGCCCACTCGGCCCACTCGGCC	5: 129,569,755		probably benign	Homo
Sh3pxd2b	GT	GTGTCTCT	11: 32,423,064		probably benign	Homo
Sh3pxd2b	T	TGTCTTG	11: 32,423,065		probably benign	Het
Shroom4	GCAGCAACA	GCA	X: 6,624,074		probably benign	Het
Six3	GGC	GGCCGC	17: 85,621,363		probably benign	Het
Slc12a1	ACC	ACCTTTGGCCACAACCCC	2: 125,154,214		probably benign	Homo
Spaca1	GC	GCTCTCTC	4: 34,049,856		probably benign	Het
Spag17	AGG	AGGCGG	3: 100,056,254		probably benign	Het
Srebf2	G	T	15: 82,185,335	A693S	probably damaging	Homo
Supt20	GCAGCA	GCAGCACCAGCA	3: 54,727,657		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,727,664		probably benign	Het
Supt20	CA	CAGCAGAA	3: 54,727,673		probably benign	Het
Syne1	C	A	10: 5,032,969	S8652I	probably benign	Homo
Tob1	GCA	GCAACA	11: 94,214,455		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,214,469		probably benign	Het
Tomm5	CTTCCGC	CTTCCGCATTTTCCGC	4: 45,107,977		probably benign	Het
Trav15-2-dv6-2	G	GAAA	14: 53,649,757		probably benign	Het
Triobp	TCG	TCGGCG	15: 78,993,387		probably benign	Het
Triobp	TCG	TCGCCG	15: 78,993,390		probably benign	Homo
Tsen2	GAG	GAGAAG	6: 115,560,068		probably benign	Het
Ttf2	TC	TCCGC	3: 100,963,160		probably benign	Homo
Tusc1	CGCCAC	CGCCACTGCCAC	4: 93,335,303		probably benign	Het
Ubtf	CTC	CTCATC	11: 102,306,958		probably benign	Het
Utrn	T	TTCCTGTC	10: 12,633,941		probably benign	Homo
Vars	TGG	TGGAGTCCTGGGGGG	17: 35,015,989		probably benign	Homo
Vars	G	GAGTCCTGGGTGC	17: 35,015,991		probably benign	Het
Vmn2r99	G	A	17: 19,394,285	G756R	probably damaging	Het
Vps13b	G	T	15: 35,846,957	A2629S	probably damaging	Homo
Zc3h13	TGCG	TGCGTGATGAGCG	14: 75,323,599		probably benign	Het
Zdhhc16	CACA	CACAACAGGGAAAGCAGTCTGTCAACA	19: 41,942,168		probably null	Het
Zfp26	C	A	9: 20,438,546	A241S	probably benign	Homo
Zfp335	TCC	TCCCCC	2: 164,907,472		probably benign	Het
Zfp598	CACCAC	CACCACAACCAC	17: 24,680,775		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,776		probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,825,731		probably null	Het
Zfp986	G	T	4: 145,899,358	R196I	probably benign	Het
Zfp992	G	T	4: 146,466,007	E62*	probably null	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
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
R9383:Prtg	UTSW	9	72849861	missense	probably benign	0.39
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'- GAACGCCATCCAAGTTGTAGAAC -3'
(R):5'- CGGAAAGGTTTAGGATCTTTTCAAG -3'

Sequencing Primer
(F):5'- ATCCAAGTTGTAGAACTCCCGGG -3'
(R):5'- ACAGATGTGCATGCTGGC -3'

Posted On

2018-04-05