Mutagenetix > Incidental Mutation

Incidental Mutation 'R9700:Prtg'

729522

Institutional Source

Beutler Lab

Gene Symbol

Prtg

Ensembl Gene

ENSMUSG00000036030

Gene Name

protogenin

Synonyms

A230098A12Rik, Igdcc5

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.652) question?

Stock #

R9700 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72714556-72824589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72762313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 480 (D480G)

Ref Sequence

ENSEMBL: ENSMUSP00000055815 (fasta)

Gene Model

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

AlphaFold

Q2EY15

Predicted Effect

probably benign
Transcript: ENSMUST00000055535
AA Change: D480G

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

SMART Domains

Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030
AA Change: D480G

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	C	T	15: 11,311,442 (GRCm39)	S1233F	probably benign	Het
Aldh1a2	G	T	9: 71,123,228 (GRCm39)	E34*	probably null	Het
Arhgap39	T	C	15: 76,611,617 (GRCm39)	T856A	probably damaging	Het
Arpin	A	G	7: 79,578,015 (GRCm39)	V138A	probably damaging	Het
Art3	T	G	5: 92,562,120 (GRCm39)	S373A	unknown	Het
AU018091	A	T	7: 3,208,165 (GRCm39)	I514N	probably benign	Het
BC034090	C	T	1: 155,101,982 (GRCm39)	R94H	probably damaging	Het
C2cd6	T	G	1: 59,117,089 (GRCm39)	M135L	probably benign	Het
Cdc42ep2	T	C	19: 5,968,097 (GRCm39)	M203V	probably damaging	Het
Cftr	T	C	6: 18,268,359 (GRCm39)	Y803H	probably damaging	Het
Dcaf1	C	T	9: 106,735,524 (GRCm39)	T824I	probably benign	Het
Ddr1	A	T	17: 35,993,288 (GRCm39)	D906E	probably damaging	Het
Dhx8	G	A	11: 101,624,015 (GRCm39)		probably null	Het
Dpysl5	C	T	5: 30,904,417 (GRCm39)	Q88*	probably null	Het
Ercc6l2	A	G	13: 63,967,525 (GRCm39)	T42A	probably benign	Het
Faf1	A	G	4: 109,748,179 (GRCm39)	K495E	possibly damaging	Het
Hr	T	C	14: 70,804,616 (GRCm39)	V928A	probably benign	Het
Ints14	C	T	9: 64,880,007 (GRCm39)	R174*	probably null	Het
Jam3	T	C	9: 27,010,183 (GRCm39)	Y267C	probably damaging	Het
Lpin3	A	T	2: 160,740,565 (GRCm39)	N370I	probably benign	Het
Mad2l1	C	A	6: 66,512,955 (GRCm39)	N29K	probably damaging	Het
Myt1	A	G	2: 181,452,177 (GRCm39)	K838R	probably damaging	Het
Ninj2	T	C	6: 120,174,873 (GRCm39)	S15P	probably benign	Het
Or14a256	A	T	7: 86,265,618 (GRCm39)	N78K	probably benign	Het
Or1j14	T	A	2: 36,418,313 (GRCm39)	D296E	probably benign	Het
Or6b9	A	G	7: 106,555,630 (GRCm39)	V171A	probably benign	Het
Or9a2	T	A	6: 41,749,076 (GRCm39)	K52N	probably benign	Het
Osgin2	A	G	4: 16,006,455 (GRCm39)	S80P	probably damaging	Het
Pcdha5	A	G	18: 37,094,447 (GRCm39)	N319D	probably benign	Het
Phkb	A	G	8: 86,567,696 (GRCm39)	K14E	probably benign	Het
Pip5k1b	T	C	19: 24,281,460 (GRCm39)	Y518C	probably benign	Het
Polh	A	T	17: 46,510,414 (GRCm39)	M14K	probably damaging	Het
Ptprk	T	C	10: 28,456,495 (GRCm39)	V1099A	probably damaging	Het
Pum2	T	C	12: 8,779,044 (GRCm39)	F539L	probably damaging	Het
Rac3	A	T	11: 120,613,399 (GRCm39)	T58S	probably damaging	Het
Setd1a	A	T	7: 127,385,752 (GRCm39)	I820F	possibly damaging	Het
Six2	A	G	17: 85,994,867 (GRCm39)	F172L	probably damaging	Het
Spic	T	A	10: 88,515,757 (GRCm39)	I22F	probably benign	Het
Tex30	T	C	1: 44,130,374 (GRCm39)		probably null	Het
Tgfbi	T	C	13: 56,778,411 (GRCm39)	I394T	probably benign	Het
Tnc	A	G	4: 63,933,186 (GRCm39)	F693L	probably damaging	Het
Ubr4	T	A	4: 139,119,388 (GRCm39)	V189E	probably damaging	Het
Vegfa	G	A	17: 46,342,713 (GRCm39)	P35L	probably damaging	Het
Zan	T	C	5: 137,454,836 (GRCm39)	H1400R	unknown	Het
Zfp36l2	A	G	17: 84,494,184 (GRCm39)	I151T	possibly damaging	Het
Zfp809	T	C	9: 22,154,470 (GRCm39)	C396R	unknown	Het
Zfp93	G	A	7: 23,974,894 (GRCm39)	G293D	probably damaging	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
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
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'- GTGAGGGAAAATGGCCTTGC -3'
(R):5'- TTTAACCAGACAGACTTACTCACTG -3'

Sequencing Primer
(F):5'- TGGACTCCCTTGGTAGACC -3'
(R):5'- GAAAGTGACCAAGTCTACAGATGTTC -3'

Posted On

2022-10-06