Mutagenetix > Incidental Mutation

Incidental Mutation 'R5469:Prtg'

433411

Institutional Source

Beutler Lab

Gene Symbol

Prtg

Ensembl Gene

ENSMUSG00000036030

Gene Name

protogenin

Synonyms

A230098A12Rik, Igdcc5

MMRRC Submission

043030-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.652) question?

Stock #

R5469 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72714556-72824589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72799247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 759 (Q759L)

Ref Sequence

ENSEMBL: ENSMUSP00000055815 (fasta)

Gene Model

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

AlphaFold

Q2EY15

Predicted Effect

probably damaging
Transcript: ENSMUST00000055535
AA Change: Q759L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055815
Gene: ENSMUSG00000036030
AA Change: Q759L

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: ENSMUST00000193259

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.4%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Allc	A	T	12: 28,605,305 (GRCm39)	N331K	probably benign	Het
Anapc1	G	T	2: 128,517,621 (GRCm39)	S341*	probably null	Het
Cacna1e	T	C	1: 154,319,683 (GRCm39)	E1339G	probably damaging	Het
Cacna2d1	T	A	5: 16,557,676 (GRCm39)	I702N	probably damaging	Het
Casp2	C	A	6: 42,246,268 (GRCm39)	H209N	probably benign	Het
Casr	A	G	16: 36,330,392 (GRCm39)	V314A	probably benign	Het
Ccne2	A	T	4: 11,201,353 (GRCm39)	R294*	probably null	Het
Cd180	T	A	13: 102,841,342 (GRCm39)	H129Q	probably benign	Het
Chst10	A	T	1: 38,904,608 (GRCm39)	Y362N	probably damaging	Het
Ctnna1	T	A	18: 35,372,573 (GRCm39)	D509E	probably benign	Het
Ctsh	G	T	9: 89,942,564 (GRCm39)		probably null	Het
Dhx29	C	T	13: 113,081,073 (GRCm39)	A369V	possibly damaging	Het
Enox1	A	G	14: 77,830,414 (GRCm39)	T340A	probably benign	Het
Fam135b	T	A	15: 71,317,892 (GRCm39)	T1357S	probably benign	Het
Flt3	A	T	5: 147,291,893 (GRCm39)	S544T	possibly damaging	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Gsap	A	T	5: 21,495,542 (GRCm39)	Y831F	possibly damaging	Het
Hnrnpr	C	T	4: 136,046,745 (GRCm39)	T142M	probably damaging	Het
Jak3	A	G	8: 72,131,417 (GRCm39)	D94G	probably benign	Het
Ktn1	A	T	14: 47,928,377 (GRCm39)	E579D	probably damaging	Het
Lama2	G	A	10: 26,917,185 (GRCm39)	P2247S	possibly damaging	Het
Lrba	C	T	3: 86,449,948 (GRCm39)	S2089F	probably damaging	Het
Map1b	C	T	13: 99,565,846 (GRCm39)	V2292M	unknown	Het
Mphosph10	A	T	7: 64,039,193 (GRCm39)		probably null	Het
Pappa	C	T	4: 65,123,389 (GRCm39)	T908M	probably benign	Het
Pdcd10	T	A	3: 75,428,364 (GRCm39)	K150*	probably null	Het
Piezo2	A	T	18: 63,160,935 (GRCm39)	I2275N	probably damaging	Het
Pmvk	T	C	3: 89,374,989 (GRCm39)		probably null	Het
Pold2	G	A	11: 5,823,048 (GRCm39)	P376S	probably damaging	Het
Rad51ap1	C	T	6: 126,905,190 (GRCm39)	S107N	probably damaging	Het
Rfk	T	A	19: 17,372,566 (GRCm39)	N29K	probably damaging	Het
Ror2	T	C	13: 53,271,375 (GRCm39)	M315V	probably benign	Het
Rrn3	A	G	16: 13,630,964 (GRCm39)	E600G	probably benign	Het
Ryk	A	G	9: 102,784,153 (GRCm39)	Y593C	possibly damaging	Het
Slc30a3	T	A	5: 31,246,004 (GRCm39)	D193V	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Srbd1	C	A	17: 86,427,370 (GRCm39)	C421F	possibly damaging	Het
Sstr5	A	C	17: 25,711,043 (GRCm39)	V62G	probably damaging	Het
Tfip11	G	A	5: 112,482,191 (GRCm39)	W483*	probably null	Het
Tlk1	T	C	2: 70,552,012 (GRCm39)	H553R	probably benign	Het
Tnc	T	C	4: 63,932,162 (GRCm39)		probably null	Het
Trav12-1	A	G	14: 53,775,930 (GRCm39)	T27A	probably damaging	Het
Usp9y	G	A	Y: 1,364,714 (GRCm39)	T1033I	probably benign	Het
V1ra8	C	T	6: 90,180,186 (GRCm39)	H130Y	probably benign	Het
Vmn2r77	A	T	7: 86,451,271 (GRCm39)	M386L	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
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'- CCCTCACAGTAAATTCATGATGC -3'
(R):5'- CTGCATCAAGTCACGTCAAG -3'

Sequencing Primer
(F):5'- ATGATGCATTTTTCAATAGCCGTCCG -3'
(R):5'- GTCACGTCAAGGAAGTACAGTTTTC -3'

Posted On

2016-10-06