Mutagenetix > Incidental Mutation

Incidental Mutation 'R8033:Prp2'

618084

Institutional Source

Beutler Lab

Gene Symbol

Prp2

Ensembl Gene

ENSMUSG00000058295

Gene Name

proline rich protein 2

Synonyms

MP14

MMRRC Submission

067470-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R8033 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132572874-132577665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132577391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 226 (H226R)

Ref Sequence

ENSEMBL: ENSMUSP00000135942 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076061] [ENSMUST00000178961]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000076061
AA Change: H226R

SMART Domains

Protein: ENSMUSP00000075435
Gene: ENSMUSG00000058295
AA Change: H226R

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	24	44	N/A	INTRINSIC
low complexity region	49	299	N/A	INTRINSIC
low complexity region	302	316	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000178961
AA Change: H226R

SMART Domains

Protein: ENSMUSP00000135942
Gene: ENSMUSG00000058295
AA Change: H226R

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	24	44	N/A	INTRINSIC
low complexity region	49	299	N/A	INTRINSIC
low complexity region	302	316	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The expression of this gene is dramatically induced in the parotid and submandibular glands of mice by beta-adrenergic stimulation. The encoded protein serves an important dental function by protecting mice against toxic dietary polyphenols such as tannins and influence the visco-elastic properties of the mucus. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 6. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,927,348 (GRCm39)	I1335K	probably damaging	Het
Adgrb2	A	G	4: 129,912,805 (GRCm39)	E1277G	probably benign	Het
Agbl3	A	G	6: 34,816,429 (GRCm39)	T785A	possibly damaging	Het
Ahnak	T	C	19: 8,981,074 (GRCm39)	V786A	probably benign	Het
Armc2	A	G	10: 41,884,680 (GRCm39)	I87T	possibly damaging	Het
Asap2	T	C	12: 21,274,390 (GRCm39)	S373P	probably damaging	Het
Casd1	A	T	6: 4,619,773 (GRCm39)	I173F	probably benign	Het
Chd2	A	G	7: 73,085,628 (GRCm39)	Y1669H	probably damaging	Het
Clic3	A	G	2: 25,348,617 (GRCm39)	E199G	probably benign	Het
Cpa4	G	A	6: 30,590,799 (GRCm39)	V366I	probably benign	Het
Creg2	T	C	1: 39,689,795 (GRCm39)	Y105C	probably damaging	Het
Cyp20a1	T	C	1: 60,411,750 (GRCm39)	I266T	probably benign	Het
Dido1	T	C	2: 180,316,635 (GRCm39)	D685G	probably damaging	Het
Dop1b	C	G	16: 93,566,371 (GRCm39)	R1051G	probably benign	Het
Fam114a2	A	G	11: 57,398,333 (GRCm39)	S202P	probably damaging	Het
Fance	G	T	17: 28,532,659 (GRCm39)		probably benign	Het
Farsa	T	A	8: 85,594,198 (GRCm39)	L316Q	probably benign	Het
Fcrl6	T	C	1: 172,426,748 (GRCm39)	D66G	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gh	A	T	11: 106,191,381 (GRCm39)	D154E	probably benign	Het
Kmt2a	A	T	9: 44,756,767 (GRCm39)	V1160E	probably damaging	Het
Lct	T	C	1: 128,212,996 (GRCm39)	T1886A	probably benign	Het
Lrwd1	G	A	5: 136,152,079 (GRCm39)	L633F	probably damaging	Het
Mmp15	A	T	8: 96,094,590 (GRCm39)	N155Y	probably benign	Het
Msantd5f6	T	C	4: 73,321,329 (GRCm39)	N143D	probably benign	Het
Mtf2	T	G	5: 108,234,951 (GRCm39)	C125G	probably damaging	Het
Muc16	A	T	9: 18,547,902 (GRCm39)	D6130E	probably benign	Het
Or5m9b	T	A	2: 85,905,219 (GRCm39)	I45N	possibly damaging	Het
Orc1	T	A	4: 108,462,761 (GRCm39)	Y613N	probably damaging	Het
Pak1	A	G	7: 97,535,590 (GRCm39)	N227S	probably benign	Het
Pex3	G	A	10: 13,407,024 (GRCm39)	Q306*	probably null	Het
Pld1	A	T	3: 28,083,359 (GRCm39)	M160L	probably benign	Het
Plekhh1	G	A	12: 79,117,710 (GRCm39)	R902H	probably benign	Het
Rad21	T	G	15: 51,827,628 (GRCm39)	T578P	probably damaging	Het
Sp140	G	A	1: 85,547,815 (GRCm39)	V181I	probably benign	Het
Spen	A	G	4: 141,199,057 (GRCm39)	V3190A	probably benign	Het
Spg11	A	C	2: 121,917,432 (GRCm39)	C1011W	probably damaging	Het
Syngr3	G	A	17: 24,905,579 (GRCm39)	R132*	probably null	Het
Tbc1d10c	A	G	19: 4,238,013 (GRCm39)	F254L	possibly damaging	Het
Tcea1	T	A	1: 4,962,141 (GRCm39)	I176K	probably damaging	Het
Timm50	G	A	7: 28,006,258 (GRCm39)	A281V	possibly damaging	Het
Tmem144	C	T	3: 79,732,624 (GRCm39)	R218K	probably benign	Het
Upp2	A	G	2: 58,670,071 (GRCm39)	Y259C	probably damaging	Het
Vcan	A	G	13: 89,852,479 (GRCm39)	V827A	probably benign	Het
Vps41	T	A	13: 18,994,635 (GRCm39)	W161R	possibly damaging	Het
Zfp994	A	T	17: 22,419,665 (GRCm39)	I428N	probably damaging	Het

Other mutations in Prp2

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01383:Prp2	APN	6	132,576,841 (GRCm39)	missense	unknown
IGL02951:Prp2	APN	6	132,576,788 (GRCm39)	missense	unknown
PIT4458001:Prp2	UTSW	6	132,577,510 (GRCm39)	missense	unknown
R2034:Prp2	UTSW	6	132,572,947 (GRCm39)	splice site	probably null
R2432:Prp2	UTSW	6	132,576,874 (GRCm39)	missense	unknown
R5283:Prp2	UTSW	6	132,577,606 (GRCm39)	missense	unknown
R7761:Prp2	UTSW	6	132,577,306 (GRCm39)	nonsense	probably null
R7877:Prp2	UTSW	6	132,572,928 (GRCm39)	missense	unknown
R8062:Prp2	UTSW	6	132,577,651 (GRCm39)	missense	unknown
R8695:Prp2	UTSW	6	132,576,932 (GRCm39)	missense	unknown
R8696:Prp2	UTSW	6	132,577,322 (GRCm39)	missense	unknown
R8938:Prp2	UTSW	6	132,577,581 (GRCm39)	missense	unknown
RF005:Prp2	UTSW	6	132,577,464 (GRCm39)	small deletion	probably benign
RF016:Prp2	UTSW	6	132,577,475 (GRCm39)	small deletion	probably benign
RF039:Prp2	UTSW	6	132,577,464 (GRCm39)	small deletion	probably benign
RF052:Prp2	UTSW	6	132,577,475 (GRCm39)	small deletion	probably benign
RF054:Prp2	UTSW	6	132,577,484 (GRCm39)	frame shift	probably null
RF057:Prp2	UTSW	6	132,577,493 (GRCm39)	frame shift	probably null
X0053:Prp2	UTSW	6	132,577,559 (GRCm39)	missense	unknown
Z1176:Prp2	UTSW	6	132,577,200 (GRCm39)	missense	unknown
Z1177:Prp2	UTSW	6	132,572,933 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCCTGTTAATGGGAGCCAGC -3'
(R):5'- CAGCCAGAGGAGGTGTTTGC -3'

Sequencing Primer
(F):5'- GAGGCCCACAGCAGAGAC -3'
(R):5'- CCTTGAGTGGGTCTCGGC -3'

Posted On

2020-01-23