Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4589:Prtg'

511366

Institutional Source

Beutler Lab

Gene Symbol

Prtg

Ensembl Gene

ENSMUSG00000036030

Gene Name

protogenin

Synonyms

A230098A12Rik, Igdcc5

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.652) question?

Stock #

FR4589 ()

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72714556-72824589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72764147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 540 (R540Q)

Ref Sequence

ENSEMBL: ENSMUSP00000055815 (fasta)

Gene Model

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

AlphaFold

Q2EY15

Predicted Effect

probably damaging
Transcript: ENSMUST00000055535
AA Change: R540Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030
AA Change: R540Q

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: 98.4%
20x: 96.1%

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: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	T	A	15: 85,378,508 (GRCm39)	E45V	unknown	Homo
A530064D06Rik	GTAGGAAGCTTAG	GTAG	17: 48,470,549 (GRCm39)		probably benign	Homo
Anxa2	C	CCCA	9: 69,387,492 (GRCm39)		probably benign	Het
Apol6	GTTT	GTTTTTTT	15: 76,935,638 (GRCm39)		probably null	Het
Arrb2	C	T	11: 70,329,497 (GRCm39)	T269M	probably damaging	Homo
AY761185	CACTGTGGG	C	8: 21,433,919 (GRCm39)		probably null	Het
Bcas3	G	A	11: 85,400,323 (GRCm39)	V431I	probably benign	Homo
Blm	TACC	TACCGACC	7: 80,113,518 (GRCm39)		probably null	Het
Btnl10	AGA	AGAGGA	11: 58,814,755 (GRCm39)		probably benign	Homo
Btnl4	T	A	17: 34,691,610 (GRCm39)	K293M	probably benign	Het
Catsper2	TGTC	TGTCGTC	2: 121,228,260 (GRCm39)		probably benign	Het
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Het
Cd109	ATTTAT	ATTTATTTATTTCTTTAT	9: 78,619,811 (GRCm39)		probably benign	Het
Cd164	G	T	10: 41,397,922 (GRCm39)	A59S	probably benign	Homo
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Homo
Chd4	C	T	6: 125,099,096 (GRCm39)	P1597L	probably benign	Homo
Chd4	CCCCTGCCCCTGCCACTGCCCCTGCC	CCCCTGCCCCTGCCCCTGCCACTGCCCCTGCC	6: 125,099,102 (GRCm39)		probably benign	Homo
Chga	AGC	AGCTGC	12: 102,527,661 (GRCm39)		probably benign	Het
Cluh	AGCC	AGCCTGGGCC	11: 74,560,357 (GRCm39)		probably benign	Het
Cnpy3	ACCC	ACCCCCC	17: 47,047,665 (GRCm39)		probably benign	Het
Cntnap1	CCCAGC	CCCAGCTCCAGC	11: 101,080,392 (GRCm39)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,080,407 (GRCm39)		probably benign	Het
Cntnap1	CAGCCC	CAGCCCGAGCCC	11: 101,080,406 (GRCm39)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,080,401 (GRCm39)		probably benign	Het
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Het
Col6a5	A	T	9: 105,811,373 (GRCm39)	N715K	unknown	Homo
Cttnbp2	ATT	ATTTCTGTT	6: 18,367,457 (GRCm39)		probably benign	Het
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,465,730 (GRCm39)		probably benign	Het
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,465,733 (GRCm39)		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,465,736 (GRCm39)		probably benign	Het
Dbr1	GGAGGA	GGAGGAAGAGGA	9: 99,465,749 (GRCm39)		probably benign	Het
Dclre1a	AGGCTTTG	AG	19: 56,532,555 (GRCm39)		probably benign	Het
Dcpp1	A	C	17: 24,100,428 (GRCm39)	K53Q	probably benign	Het
Dhx8	CGAGAC	CGAGACAGAGAC	11: 101,629,014 (GRCm39)		probably benign	Homo
Dnaaf9	CC	CCTGC	2: 130,612,672 (GRCm39)		probably benign	Het
Dnaaf9	TCC	TCCCCC	2: 130,612,665 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Homo
Dthd1	C	CTT	5: 63,000,369 (GRCm39)		probably null	Homo
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,602,075 (GRCm39)		probably benign	Het
Eps8	AC	ACTCGC	6: 137,494,067 (GRCm39)		probably null	Het
Ermn	TTC	TTCATC	2: 57,938,081 (GRCm39)		probably benign	Het
Fam81b	TC	TCTCC	13: 76,419,442 (GRCm39)		probably benign	Het
Fbrsl1	TG	TGCGTGTGCTGGCG	5: 110,526,016 (GRCm39)		probably benign	Het
Fbxo43	CCTGTG	CCTGTGTCTGTG	15: 36,152,247 (GRCm39)		probably benign	Het
Fbxo43	GCCTGT	GCCTGTTCCTGT	15: 36,152,246 (GRCm39)		probably benign	Het
Fmn1	CTCCTC	CTCCTCTTCCTC	2: 113,356,118 (GRCm39)		probably benign	Het
Fmn1	TCCTCC	TCCTCCCCCTCC	2: 113,356,119 (GRCm39)		probably benign	Het
Frmpd2	G	T	14: 33,232,978 (GRCm39)	L399F	probably damaging	Homo
Gabre	GCTCCGACTCCGACTCCG	GCTCCGACTCCGACTCCGACTCCG	X: 71,313,636 (GRCm39)		probably benign	Homo
Gabre	ACTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	ACTCCGGCTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	X: 71,313,648 (GRCm39)		probably benign	Homo
Gbp2b	A	G	3: 142,309,413 (GRCm39)	I175V	probably benign	Het
Gm4340	AG	AGCCG	10: 104,031,961 (GRCm39)		probably benign	Het
Gm4340	CAG	CAGTAG	10: 104,031,939 (GRCm39)		probably null	Het
Gm4340	AGC	AGCCGC	10: 104,031,940 (GRCm39)		probably benign	Het
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Het
Ighv5-9	C	T	12: 113,625,497 (GRCm39)	S82N	probably benign	Homo
Ipo9	TCC	TCCCCC	1: 135,314,019 (GRCm39)		probably benign	Het
Ipo9	CCATC	CCATCATC	1: 135,314,004 (GRCm39)		probably benign	Het
Isg20l2	GAAA	GAAAAAA	3: 87,839,024 (GRCm39)		probably benign	Homo
Klra9	C	G	6: 130,159,366 (GRCm39)	D216H	probably benign	Het
Kmt2b	TCC	TCCTCCGCC	7: 30,285,806 (GRCm39)		probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,285,786 (GRCm39)		probably benign	Het
Kmt2b	CCTCCT	CCTCCTACTCCT	7: 30,285,789 (GRCm39)		probably null	Het
Krt10	TCC	TCCGCCGCC	11: 99,280,102 (GRCm39)		probably benign	Het
Las1l	TC	TCTTCCAC	X: 94,984,231 (GRCm39)		probably benign	Het
Las1l	TCTTCC	TCTTCCGCTTCC	X: 94,984,225 (GRCm39)		probably benign	Het
Las1l	TTCCTCCTCCTC	TTCCTC	X: 94,984,227 (GRCm39)		probably benign	Het
Lce1m	TGCTGCCACC	TGCTGCCACCACGGCTGCCACC	3: 92,925,575 (GRCm39)		probably benign	Homo
Loricrin	GCCGCCGCC	GC	3: 91,989,201 (GRCm39)		probably null	Het
Lrit3	AC	ACATCC	3: 129,597,562 (GRCm39)		probably null	Het
Lrrc63	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	14: 75,362,622 (GRCm39)		probably benign	Homo
Mapk7	GG	GGTGCTAG	11: 61,381,048 (GRCm39)		probably benign	Het
Med12l	GCAACA	GCAACAACA	3: 59,183,377 (GRCm39)		probably benign	Het
Nacad	GGGTCA	GGGTCATGGTCA	11: 6,549,753 (GRCm39)		probably benign	Het
Ndufc2	G	C	7: 97,049,497 (GRCm39)	M34I	probably benign	Het
Nphp3	CACG	C	9: 103,903,138 (GRCm39)		probably benign	Het
Nrg3	AG	AGCCTTTG	14: 38,119,223 (GRCm39)		probably benign	Het
Pdik1l	TTTTGTTTT	TTTTGTTTTGTGTTTGTTTT	4: 134,006,680 (GRCm39)		probably null	Homo
Pdik1l	TTTTTGTTTT	TTTTTGTTTTGATTTTGTTTT	4: 134,006,679 (GRCm39)		probably null	Homo
Phaf1	G	A	8: 105,967,730 (GRCm39)	G207E	probably benign	Homo
Plekhs1	AC	ACCTCCCCCGAGGC	19: 56,468,295 (GRCm39)		probably benign	Het
Prag1	CCGC	CCGCCGC	8: 36,571,037 (GRCm39)		probably benign	Homo
Raet1d	T	TCCTCTCTGGTAG	10: 22,246,817 (GRCm39)		probably null	Homo
Rhbdf1	A	ATTTT	11: 32,164,391 (GRCm39)		probably benign	Het
Rps19	AAAATT	AAAATTGAAATT	7: 24,588,607 (GRCm39)		probably benign	Het
Rtbdn	GGCAGC	GGCAGCCGCAGC	8: 85,682,800 (GRCm39)		probably benign	Het
Scaf4	TGCGGC	TGC	16: 90,026,742 (GRCm39)		probably benign	Homo
Serac1	T	A	17: 6,121,083 (GRCm39)	K70N	probably damaging	Homo
Setd1a	CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,384,469 (GRCm39)		probably benign	Het
Shf	TCT	TCTGCT	2: 122,184,658 (GRCm39)		probably benign	Homo
Shroom4	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCA	X: 6,536,115 (GRCm39)		probably benign	Homo
Six3	CGG	CGGAGG	17: 85,928,793 (GRCm39)		probably benign	Het
Snx1	TCT	TCTCCT	9: 66,012,208 (GRCm39)		probably benign	Homo
Spag17	AGG	AGGGGG	3: 99,963,561 (GRCm39)		probably benign	Het
Spag17	GGA	GGATGA	3: 99,963,574 (GRCm39)		probably benign	Het
Speer4a1	C	A	5: 26,241,746 (GRCm39)	E127*	probably null	Het
Sry	ACTG	ACTGCTG	Y: 2,662,818 (GRCm39)		probably benign	Het
Supt20	A	AGCAGCT	3: 54,635,092 (GRCm39)		probably benign	Het
Supt20	GCAGCA	GCAGCATCAGCA	3: 54,635,072 (GRCm39)		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,635,076 (GRCm39)		probably benign	Het
Tcof1	GGGTA	G	18: 60,961,722 (GRCm39)		probably benign	Homo
Tert	C	CAAGGGTGCG	13: 73,796,423 (GRCm39)		probably benign	Het
Tmbim7	C	T	5: 3,720,064 (GRCm39)	R100C	possibly damaging	Het
Tmed6	C	CTAGA	8: 107,788,230 (GRCm39)		probably null	Homo
Tob1	CACA	CACAACA	11: 94,105,277 (GRCm39)		probably benign	Het
Tob1	CA	CAGCAA	11: 94,105,303 (GRCm39)		probably null	Het
Trcg1	AGCTCCTGTGTCTGT	A	9: 57,149,485 (GRCm39)		probably null	Homo
Trim16	A	AAGC	11: 62,711,521 (GRCm39)		probably benign	Homo
Tsbp1	GCA	GCACCA	17: 34,679,027 (GRCm39)		probably benign	Het
Tsbp1	AGC	AGCCGC	17: 34,679,047 (GRCm39)		probably benign	Het
Tubgcp4	GTGA	G	2: 121,005,944 (GRCm39)		probably benign	Het
Tusc1	ACCGCC	ACCGCCCCCGCC	4: 93,223,544 (GRCm39)		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,197,771 (GRCm39)		probably benign	Het
Ubtf	CTCTTC	CTCTTCTTC	11: 102,197,769 (GRCm39)		probably benign	Het
Vars1	GTGG	GTGGAGTCCTGGTTGG	17: 35,234,964 (GRCm39)		probably benign	Homo
Vmn2r52	C	T	7: 9,892,947 (GRCm39)	E731K	probably damaging	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Homo
Zc3h13	GTGCGAGAT	GTGCGAGATTTGCGAGAT	14: 75,561,038 (GRCm39)		probably benign	Het
Zc3h13	CGGGATGTGCG	CGGGATGTGCGGGATGTGCG	14: 75,561,032 (GRCm39)		probably benign	Homo
Zc3h13	TGTGCGAG	TGTGCGAGGAGTGCGAG	14: 75,561,037 (GRCm39)		probably benign	Het
Zfhx3	CAGCA	CAGCAACAGAAGCA	8: 109,682,733 (GRCm39)		probably benign	Het
Zfp282	GGC	GGCAGC	6: 47,881,725 (GRCm39)		probably benign	Het
Zfp459	GA	GAGTTA	13: 67,556,394 (GRCm39)		probably null	Homo
Zfp598	ACCACC	ACCACCCCCACC	17: 24,899,753 (GRCm39)		probably benign	Het
Zfp831	TCC	TCCCCC	2: 174,487,261 (GRCm39)		probably benign	Het
Zfp997	G	A	13: 66,270,022 (GRCm39)	S396N	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GAAGCATCTCCAGTGTGACC -3'
(R):5'- TTTCACGCTCGTAGCCTTGG -3'

Sequencing Primer
(F):5'- GCATCTCCAGTGTGACCATGTTATG -3'
(R):5'- CGTCCTGTGTGAGGTCCAC -3'

Posted On

2018-04-05