Mutagenetix > Incidental Mutation

Incidental Mutation 'R1993:Prtg'

223932

Institutional Source

Beutler Lab

Gene Symbol

Prtg

Ensembl Gene

ENSMUSG00000036030

Gene Name

protogenin

Synonyms

A230098A12Rik, Igdcc5

MMRRC Submission

040004-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.622) question?

Stock #

R1993 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72714556-72824589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72752178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 188 (D188G)

Ref Sequence

ENSEMBL: ENSMUSP00000055815 (fasta)

Gene Model

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

AlphaFold

Q2EY15

Predicted Effect

probably benign
Transcript: ENSMUST00000055535
AA Change: D188G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030
AA Change: D188G

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	G	5: 8,871,322 (GRCm39)	I292S	possibly damaging	Het
Abcc4	T	C	14: 118,763,694 (GRCm39)	N1047S	probably benign	Het
Abcc8	G	T	7: 45,766,847 (GRCm39)		probably null	Het
Akap9	T	A	5: 4,088,520 (GRCm39)		probably null	Het
Alox5	T	A	6: 116,392,424 (GRCm39)	I366F	probably damaging	Het
Amn	A	G	12: 111,242,526 (GRCm39)	N447S	probably damaging	Het
Ankrd22	A	T	19: 34,143,174 (GRCm39)	M1K	probably null	Het
Asic1	G	T	15: 99,569,765 (GRCm39)	G29C	probably damaging	Het
Atxn7l1	A	G	12: 33,395,976 (GRCm39)	N235S	probably benign	Het
AY358078	T	A	14: 52,063,519 (GRCm39)	D388E	probably damaging	Het
Bod1l	A	G	5: 41,974,679 (GRCm39)	S2212P	probably damaging	Het
Cacna1e	T	A	1: 154,353,563 (GRCm39)	Q423L	probably damaging	Het
Calu	T	C	6: 29,366,974 (GRCm39)	I62T	possibly damaging	Het
Cars2	A	G	8: 11,564,515 (GRCm39)	V75A	probably benign	Het
Catsperb	T	A	12: 101,569,026 (GRCm39)	N899K	possibly damaging	Het
Ccdc50	T	A	16: 27,228,089 (GRCm39)	C86*	probably null	Het
Cdh5	G	T	8: 104,864,447 (GRCm39)	L469F	probably damaging	Het
Clrn3	A	T	7: 135,115,848 (GRCm39)	D167E	probably benign	Het
Csmd1	A	T	8: 16,396,698 (GRCm39)	C411S	probably damaging	Het
Dchs1	A	T	7: 105,411,755 (GRCm39)	S1454T	probably benign	Het
Ddx20	G	A	3: 105,586,660 (GRCm39)	Q562*	probably null	Het
Dgkg	T	G	16: 22,419,344 (GRCm39)	Y52S	probably damaging	Het
Dhx58	T	C	11: 100,594,316 (GRCm39)		probably null	Het
Dpp6	A	T	5: 27,604,004 (GRCm39)	I145L	probably benign	Het
Efna2	A	T	10: 80,022,711 (GRCm39)	Y85F	possibly damaging	Het
Eif3a	C	T	19: 60,769,954 (GRCm39)	V127I	probably benign	Het
Exph5	A	T	9: 53,284,935 (GRCm39)	H672L	possibly damaging	Het
Fam131b	T	C	6: 42,297,818 (GRCm39)	T112A	possibly damaging	Het
Fcgr1	A	T	3: 96,193,184 (GRCm39)	V271E	probably damaging	Het
Fgfr4	A	G	13: 55,313,715 (GRCm39)	D508G	probably damaging	Het
Fndc3b	A	G	3: 27,473,549 (GRCm39)	M1172T	probably benign	Het
Fryl	G	T	5: 73,265,836 (GRCm39)	T495K	probably damaging	Het
Garin5b	A	T	7: 4,761,017 (GRCm39)	V565E	probably damaging	Het
Gm5134	A	T	10: 75,802,227 (GRCm39)	I93F	probably damaging	Het
Gpbar1	G	A	1: 74,318,603 (GRCm39)	G282D	possibly damaging	Het
Gria2	G	A	3: 80,709,664 (GRCm39)	L10F	probably benign	Het
Grm7	T	C	6: 111,184,769 (GRCm39)	Y367H	probably benign	Het
H1f9	T	A	11: 94,858,858 (GRCm39)	V51E	probably damaging	Het
Hivep1	G	A	13: 42,310,969 (GRCm39)	A1070T	probably benign	Het
Il33	A	G	19: 29,934,304 (GRCm39)	D155G	possibly damaging	Het
Kdm6b	T	C	11: 69,297,129 (GRCm39)	S408G	probably null	Het
Kntc1	A	G	5: 123,948,874 (GRCm39)		probably null	Het
Kntc1	G	A	5: 123,897,162 (GRCm39)		probably null	Het
Ltbp2	T	G	12: 84,855,220 (GRCm39)		probably null	Het
Mapk8ip3	G	T	17: 25,133,562 (GRCm39)	L83I	probably damaging	Het
Meltf	C	A	16: 31,711,440 (GRCm39)	Y554*	probably null	Het
Mov10	A	C	3: 104,706,735 (GRCm39)	F725C	probably damaging	Het
Ms4a6d	A	C	19: 11,567,523 (GRCm39)	L18R	probably damaging	Het
Naip2	T	C	13: 100,298,515 (GRCm39)	N507S	probably benign	Het
Nodal	A	G	10: 61,254,113 (GRCm39)	Q12R	probably benign	Het
Npy6r	T	C	18: 44,409,575 (GRCm39)	L332P	probably damaging	Het
Nrxn3	A	G	12: 89,227,181 (GRCm39)	K272R	possibly damaging	Het
Obox2	G	T	7: 15,131,174 (GRCm39)	K93N	probably benign	Het
Or10j27	C	T	1: 172,958,418 (GRCm39)	R122H	possibly damaging	Het
Or51a6	G	T	7: 102,603,953 (GRCm39)	P285Q	probably damaging	Het
Or5b112	A	G	19: 13,319,178 (GRCm39)	T19A	possibly damaging	Het
Or5w13	C	T	2: 87,523,777 (GRCm39)	V150M	probably benign	Het
Pcdh12	T	A	18: 38,415,196 (GRCm39)	D643V	possibly damaging	Het
Pcsk2	A	G	2: 143,529,539 (GRCm39)	D112G	probably benign	Het
Pms1	A	G	1: 53,234,174 (GRCm39)	S781P	probably benign	Het
Psg21	A	T	7: 18,388,695 (GRCm39)	N132K	probably benign	Het
Psip1	A	G	4: 83,400,769 (GRCm39)	V25A	probably damaging	Het
Psmd13	T	A	7: 140,478,107 (GRCm39)	I319N	probably damaging	Het
Ptges2	A	G	2: 32,290,104 (GRCm39)	T173A	probably benign	Het
Ptprm	G	A	17: 67,054,155 (GRCm39)	R975W	probably damaging	Het
Rdh1	A	G	10: 127,601,214 (GRCm39)	D254G	probably benign	Het
Rnf138	T	G	18: 21,157,540 (GRCm39)	N212K	probably damaging	Het
Serpine2	A	G	1: 79,799,159 (GRCm39)	S32P	probably damaging	Het
Serpini1	G	T	3: 75,521,971 (GRCm39)	W154L	probably damaging	Het
Sf3a1	C	A	11: 4,129,177 (GRCm39)	Q713K	possibly damaging	Het
Sgo2b	A	T	8: 64,379,867 (GRCm39)	H988Q	probably benign	Het
Sin3a	T	C	9: 57,008,483 (GRCm39)	F468L	probably damaging	Het
Slamf6	A	T	1: 171,761,776 (GRCm39)	I66F	possibly damaging	Het
Slc22a28	A	T	19: 8,094,488 (GRCm39)	C178S	possibly damaging	Het
Slc35a1	A	C	4: 34,675,181 (GRCm39)	V119G	probably damaging	Het
Slc39a12	A	T	2: 14,439,030 (GRCm39)	H428L	probably damaging	Het
Speer2	A	G	16: 69,654,965 (GRCm39)	S167P	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Spsb2	T	C	6: 124,786,329 (GRCm39)		probably null	Het
Stam2	A	T	2: 52,593,168 (GRCm39)	Y341*	probably null	Het
Sv2b	G	A	7: 74,856,089 (GRCm39)	A67V	probably benign	Het
Svep1	A	G	4: 58,064,170 (GRCm39)		probably null	Het
Syt15	A	T	14: 33,944,969 (GRCm39)	Q172L	probably benign	Het
T	G	A	17: 8,660,634 (GRCm39)	S415N	probably benign	Het
Tep1	A	G	14: 51,061,641 (GRCm39)	F2625S	possibly damaging	Het
Tex14	T	C	11: 87,427,581 (GRCm39)	V11A	possibly damaging	Het
Tiam2	A	T	17: 3,465,401 (GRCm39)	R377*	probably null	Het
Tirap	A	G	9: 35,102,312 (GRCm39)		probably null	Het
Tm4sf20	T	C	1: 82,737,938 (GRCm39)	T118A	probably benign	Het
Trank1	A	T	9: 111,207,900 (GRCm39)	Q1715L	probably benign	Het
Trpm2	C	T	10: 77,783,823 (GRCm39)	V217M	probably damaging	Het
Ubap1l	G	A	9: 65,279,078 (GRCm39)	E126K	possibly damaging	Het
Urgcp	G	T	11: 5,666,526 (GRCm39)	P604Q	probably damaging	Het
Vmn1r63	A	G	7: 5,806,254 (GRCm39)	V126A	probably benign	Het
Vmn2r90	T	C	17: 17,933,525 (GRCm39)	C362R	probably damaging	Het
Vmn2r96	A	G	17: 18,804,138 (GRCm39)	I271V	probably damaging	Het
Vps13a	A	T	19: 16,699,822 (GRCm39)	I740K	probably benign	Het
Vps13c	A	G	9: 67,883,138 (GRCm39)	T3562A	probably damaging	Het
Wdr91	T	A	6: 34,869,297 (GRCm39)	H409L	probably damaging	Het
Wnt7a	T	A	6: 91,342,938 (GRCm39)	T315S	possibly damaging	Het
Zfp616	A	G	11: 73,975,795 (GRCm39)	H688R	probably benign	Het
Zfp763	A	T	17: 33,237,413 (GRCm39)	H577Q	probably damaging	Het
Zfp808	G	A	13: 62,320,721 (GRCm39)	S650N	probably benign	Het
Zfp977	A	T	7: 42,229,409 (GRCm39)	M372K	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
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
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'- CCCTCCTACATGCCAGCTG -3'
(R):5'- ATTACAGCCAGAAGAAAAGTAGATGT -3'

Sequencing Primer
(F):5'- GCAGAGGCTCATGTGTTAGAAC -3'
(R):5'- ACTATGGTTAGCGAAGCC -3'

Posted On

2014-08-25