Mutagenetix > Incidental Mutation

Incidental Mutation 'R8938:Prp2'

680782

Institutional Source

Beutler Lab

Gene Symbol

Prp2

Ensembl Gene

ENSMUSG00000058295

Gene Name

proline rich protein 2

Synonyms

MP14

MMRRC Submission

068711-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R8938 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132572874-132577665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 132577581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 289 (H289Q)

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: H289Q

SMART Domains

Protein: ENSMUSP00000075435
Gene: ENSMUSG00000058295
AA Change: H289Q

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: H289Q

SMART Domains

Protein: ENSMUSP00000135942
Gene: ENSMUSG00000058295
AA Change: H289Q

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: 99.9%
10x: 99.6%
20x: 98.7%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	G	4: 73,861,424 (GRCm39)	S59P	probably damaging	Het
Abcc8	G	T	7: 45,816,418 (GRCm39)	H241N		Het
Acsm1	T	C	7: 119,258,385 (GRCm39)	S493P	probably damaging	Het
Agtr1a	T	C	13: 30,565,049 (GRCm39)	I38T	probably damaging	Het
Ahnak	T	C	19: 8,989,099 (GRCm39)	I3461T	probably benign	Het
Bbox1	T	A	2: 110,100,529 (GRCm39)	T223S	probably benign	Het
Brip1	T	C	11: 86,039,227 (GRCm39)	K436E	possibly damaging	Het
Cdhr1	T	A	14: 36,809,405 (GRCm39)	T299S	probably benign	Het
Cr2	T	C	1: 194,853,424 (GRCm39)	D18G	probably damaging	Het
Cyp51	T	C	5: 4,150,202 (GRCm39)	I174V	probably benign	Het
Dnah2	A	T	11: 69,328,754 (GRCm39)	Y3290N	probably damaging	Het
Fcho1	T	G	8: 72,169,790 (GRCm39)	K111T	possibly damaging	Het
Firrm	C	T	1: 163,789,541 (GRCm39)	V665I	probably benign	Het
Gli2	A	T	1: 118,763,935 (GRCm39)	D1405E	probably damaging	Het
Gsg1l2	A	G	11: 67,680,399 (GRCm39)	H278R	possibly damaging	Het
H2-K2	T	C	17: 34,216,294 (GRCm39)	H284R	probably damaging	Het
Ighv1-62-1	C	T	12: 115,350,735 (GRCm39)	W5*	probably null	Het
Ighv1-81	T	A	12: 115,883,988 (GRCm39)	T88S	probably benign	Het
Igkv4-57	T	A	6: 69,553,256 (GRCm39)	M19L	probably benign	Het
Klk1b3	G	T	7: 43,849,729 (GRCm39)	W38L	probably damaging	Het
Lama3	T	C	18: 12,689,762 (GRCm39)	S2835P	probably damaging	Het
Lhx8	T	C	3: 154,028,024 (GRCm39)	N145S	possibly damaging	Het
Mfsd6	A	T	1: 52,748,454 (GRCm39)	L137H	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446 (GRCm39)		probably benign	Het
Mpst	A	T	15: 78,294,270 (GRCm39)	M1L	possibly damaging	Het
Mrpl2	T	A	17: 46,957,238 (GRCm39)		probably benign	Het
Mybpc3	T	C	2: 90,954,294 (GRCm39)	V224A	probably damaging	Het
Nol4l	T	C	2: 153,262,651 (GRCm39)	D63G	probably damaging	Het
Or8g36	A	T	9: 39,422,910 (GRCm39)	Y35*	probably null	Het
Patz1	C	T	11: 3,240,660 (GRCm39)	T16I	probably damaging	Het
Pcdha3	A	G	18: 37,080,154 (GRCm39)	I299V	probably benign	Het
Pcdhb18	G	T	18: 37,623,537 (GRCm39)	R289L	probably benign	Het
Pcdhga6	A	T	18: 37,841,562 (GRCm39)	R427S	probably benign	Het
Pcdhga8	T	A	18: 37,859,955 (GRCm39)	V337E	probably damaging	Het
Pik3c2b	T	A	1: 133,016,068 (GRCm39)	W877R	probably benign	Het
Plcg2	T	C	8: 118,231,114 (GRCm39)		probably null	Het
Rac2	A	G	15: 78,446,112 (GRCm39)	L192P	probably damaging	Het
Rfx4	T	A	10: 84,675,936 (GRCm39)	Y51N	probably damaging	Het
Rptn	A	T	3: 93,302,332 (GRCm39)	Q16L	possibly damaging	Het
Ryr1	C	T	7: 28,801,358 (GRCm39)	G802D	probably damaging	Het
Shroom3	T	C	5: 93,090,930 (GRCm39)	S1146P	probably damaging	Het
Stam	T	C	2: 14,133,984 (GRCm39)		probably null	Het
Vmn2r100	A	G	17: 19,751,825 (GRCm39)	M623V	probably benign	Het
Wdr90	G	A	17: 26,076,146 (GRCm39)	R104C		Het
Xkr7	T	C	2: 152,874,133 (GRCm39)	F67L	probably damaging	Het
Zfp451	A	T	1: 33,842,063 (GRCm39)		probably benign	Het
Zfp609	C	T	9: 65,610,561 (GRCm39)	A801T	possibly damaging	Het
Zfp974	A	T	7: 27,610,311 (GRCm39)	H471Q	possibly 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
R8033:Prp2	UTSW	6	132,577,391 (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
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'- AGCAGCGATACCCTCAAAG -3'
(R):5'- AGATTGGTTGCATTTTAGAATCTGAA -3'

Sequencing Primer
(F):5'- CACCAGGAGGCCCACAG -3'
(R):5'- AATATAGAGGAGTTTTGATCCCTGAC -3'

Posted On

2021-08-31