Mutagenetix > Incidental Mutation

Incidental Mutation 'R6306:Prtg'

509674

Institutional Source

Beutler Lab

Gene Symbol

Prtg

Ensembl Gene

ENSMUSG00000036030

Gene Name

protogenin

Synonyms

A230098A12Rik, Igdcc5

MMRRC Submission

044468-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.652) question?

Stock #

R6306 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72714556-72824589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72813468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 943 (T943S)

Ref Sequence

ENSEMBL: ENSMUSP00000055815 (fasta)

Gene Model

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

AlphaFold

Q2EY15

Predicted Effect

probably benign
Transcript: ENSMUST00000055535
AA Change: T943S

PolyPhen 2 Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030
AA Change: T943S

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: ENSMUST00000184274

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (88/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	G	A	9: 90,060,331 (GRCm39)		probably null	Het
Adora2a	T	A	10: 75,169,238 (GRCm39)	V234E	probably damaging	Het
Alpk1	T	C	3: 127,479,965 (GRCm39)	D188G	probably damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Ankrd17	A	G	5: 90,392,013 (GRCm39)	F1886L	probably benign	Het
Anks1	T	G	17: 28,269,613 (GRCm39)	L769R	probably damaging	Het
Apol10a	A	G	15: 77,373,161 (GRCm39)	I266V	probably benign	Het
Arhgef28	T	C	13: 98,121,896 (GRCm39)	Y556C	probably damaging	Het
Brd8	T	A	18: 34,744,304 (GRCm39)	T175S	probably damaging	Het
Camsap2	C	T	1: 136,208,937 (GRCm39)	V852I	probably benign	Het
Cd55b	G	T	1: 130,341,803 (GRCm39)	P278Q	probably damaging	Het
Cep290	T	A	10: 100,367,028 (GRCm39)	S1126R	possibly damaging	Het
Cfh	C	T	1: 140,030,155 (GRCm39)	C906Y	probably damaging	Het
Chst13	C	A	6: 90,286,260 (GRCm39)	R234L	probably damaging	Het
Clcn7	T	C	17: 25,376,502 (GRCm39)	F611L	probably benign	Het
Cntnap1	A	G	11: 101,075,441 (GRCm39)	D873G	probably damaging	Het
Cntnap5b	T	C	1: 100,091,871 (GRCm39)	I518T	probably damaging	Het
Col28a1	T	C	6: 8,014,969 (GRCm39)	E812G	probably damaging	Het
Cpa1	T	C	6: 30,640,953 (GRCm39)	I148T	probably damaging	Het
Cyp11a1	A	G	9: 57,932,383 (GRCm39)	N232S	probably benign	Het
Dhrs13	A	G	11: 77,923,519 (GRCm39)	D79G	probably damaging	Het
Disp1	T	C	1: 182,868,712 (GRCm39)	E1236G	possibly damaging	Het
Dnah1	A	C	14: 31,026,544 (GRCm39)	L778R	probably damaging	Het
Dnah14	CTGTG	CTG	1: 181,412,589 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dock9	A	T	14: 121,799,492 (GRCm39)	I1729N	probably damaging	Het
Dysf	T	C	6: 84,114,248 (GRCm39)	V1192A	possibly damaging	Het
Enpp2	A	G	15: 54,762,742 (GRCm39)	S169P	probably damaging	Het
Fam114a2	T	G	11: 57,404,972 (GRCm39)	R43S	probably damaging	Het
Fam13a	T	C	6: 58,917,239 (GRCm39)	T546A	probably benign	Het
Fos	A	T	12: 85,522,460 (GRCm39)	D163V	probably damaging	Het
Fras1	T	C	5: 96,912,805 (GRCm39)	Y3370H	probably damaging	Het
Fshr	T	C	17: 89,507,961 (GRCm39)	N27S	probably null	Het
Galnt6	A	G	15: 100,591,305 (GRCm39)	S600P	possibly damaging	Het
Gars1	T	A	6: 55,032,809 (GRCm39)	N260K	probably damaging	Het
Gpr158	C	G	2: 21,820,422 (GRCm39)	P640A	possibly damaging	Het
Grep1	T	C	17: 23,925,124 (GRCm39)	N495S	possibly damaging	Het
Grik3	A	G	4: 125,526,205 (GRCm39)	D146G	probably benign	Het
Hdac4	T	C	1: 91,923,896 (GRCm39)	T205A	probably benign	Het
Kcnq3	T	C	15: 65,876,643 (GRCm39)	D500G	probably benign	Het
Kmt5c	A	G	7: 4,749,480 (GRCm39)	K333E	probably benign	Het
Krt81	A	G	15: 101,357,404 (GRCm39)	S443P	probably benign	Het
M6pr	T	C	6: 122,292,121 (GRCm39)		probably null	Het
Mccc2	T	A	13: 100,130,085 (GRCm39)	I91L	probably benign	Het
Nip7	A	G	8: 107,785,055 (GRCm39)	D110G	probably damaging	Het
Nol8	T	A	13: 49,829,829 (GRCm39)	F1093I	probably damaging	Het
Nrxn1	T	C	17: 90,872,874 (GRCm39)	T1027A	possibly damaging	Het
Ofcc1	T	A	13: 40,302,052 (GRCm39)	M495L	probably benign	Het
Or13p10	A	T	4: 118,523,490 (GRCm39)	M259L	probably benign	Het
Or7e178	A	G	9: 20,225,742 (GRCm39)	M158T	probably benign	Het
Pafah1b2	A	T	9: 45,886,425 (GRCm39)	V81D	probably damaging	Het
Pcdhga4	A	T	18: 37,818,966 (GRCm39)	S172C	probably damaging	Het
Pds5a	A	G	5: 65,813,639 (GRCm39)	V282A	probably damaging	Het
Plat	A	G	8: 23,262,282 (GRCm39)	D102G	possibly damaging	Het
Plce1	C	A	19: 38,757,909 (GRCm39)	Q1961K	probably damaging	Het
Plppr3	T	A	10: 79,697,566 (GRCm39)	K444*	probably null	Het
Plscr3	A	G	11: 69,738,472 (GRCm39)		probably null	Het
Racgap1	A	G	15: 99,521,834 (GRCm39)	F519L	probably benign	Het
Rbms2	A	T	10: 127,987,050 (GRCm39)		probably null	Het
Rfx7	A	G	9: 72,524,237 (GRCm39)	T476A	possibly damaging	Het
Rnf150	T	A	8: 83,810,131 (GRCm39)	L421Q	possibly damaging	Het
Sema3b	A	G	9: 107,478,119 (GRCm39)	L422P	possibly damaging	Het
Shank2	G	A	7: 143,963,417 (GRCm39)	A921T	probably benign	Het
Skint3	A	T	4: 112,113,072 (GRCm39)	E227D	probably damaging	Het
Slc25a19	G	A	11: 115,508,386 (GRCm39)	R201C	possibly damaging	Het
Slc38a10	G	T	11: 120,038,645 (GRCm39)	A40D	probably damaging	Het
Slc5a4b	T	C	10: 75,917,185 (GRCm39)	T284A	probably benign	Het
Smc1b	A	T	15: 85,011,824 (GRCm39)	F154I	probably benign	Het
Spry2	A	T	14: 106,130,418 (GRCm39)	M256K	possibly damaging	Het
Stkld1	C	T	2: 26,833,899 (GRCm39)	P129S	probably damaging	Het
Syce2	T	C	8: 85,599,371 (GRCm39)	L13S	possibly damaging	Het
Tbc1d15	C	A	10: 115,069,148 (GRCm39)	V74L	possibly damaging	Het
Tecpr2	T	A	12: 110,911,185 (GRCm39)	V1074D	probably damaging	Het
Tex36	G	A	7: 133,197,054 (GRCm39)	T21I	probably benign	Het
Ttn	T	G	2: 76,554,454 (GRCm39)	D30787A	probably damaging	Het
Ttn	T	A	2: 76,622,264 (GRCm39)	Q13710L	probably benign	Het
Usp34	T	C	11: 23,362,260 (GRCm39)	F1569L	possibly damaging	Het
Vat1l	C	T	8: 115,098,391 (GRCm39)	A387V	probably damaging	Het
Vil1	G	A	1: 74,460,470 (GRCm39)	G209D	possibly damaging	Het
Vmn1r113	G	T	7: 20,521,792 (GRCm39)	D195Y	probably damaging	Het
Vmn2r69	A	C	7: 85,064,799 (GRCm39)	I29R	probably benign	Het
Vti1b	G	A	12: 79,207,323 (GRCm39)	Q76*	probably null	Het
Zfp423	C	A	8: 88,508,662 (GRCm39)	V540F	possibly damaging	Het
Zfp644	T	C	5: 106,785,990 (GRCm39)	N186D	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp787	G	A	7: 6,135,360 (GRCm39)	A297V	probably damaging	Het
Zfp827	G	T	8: 79,787,324 (GRCm39)	Q163H	probably damaging	Het
Zfp955b	T	A	17: 33,522,160 (GRCm39)	V543E	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
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
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'- TGCATGACTTTTCCGCTTAGATG -3'
(R):5'- TGACAGCATCTCTCTGCATAAG -3'

Sequencing Primer
(F):5'- CCGCTTAGATGTAGTATCAAAACTG -3'
(R):5'- CCTTTGCCTCTAGAAAGCTGGAATG -3'

Posted On

2018-04-02