Mutagenetix > Incidental Mutation

Incidental Mutation 'R9697:Prol1'

729356

Institutional Source

Beutler Lab

Gene Symbol

Prol1

Ensembl Gene

ENSMUSG00000064156

Gene Name

proline rich, lacrimal 1

Synonyms

Muc10

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R9697 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88317312-88328814 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88318567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 3 (N3I)

Ref Sequence

ENSEMBL: ENSMUSP00000132678 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170832]

AlphaFold

E9PYQ4

Predicted Effect

probably benign
Transcript: ENSMUST00000170832
AA Change: N3I

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000132678
Gene: ENSMUSG00000064156
AA Change: N3I

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	40	52	N/A	INTRINSIC
low complexity region	99	295	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 14,943,507		probably benign	Het
9330182O14Rik	C	T	15: 40,142,104		probably benign	Het
Adamts19	C	A	18: 58,968,762	P635T	probably damaging	Het
Adgrf1	T	C	17: 43,314,471	W857R	possibly damaging	Het
Ak9	T	G	10: 41,422,972	Y1556*	probably null	Het
Ang2	T	C	14: 51,195,869	I19V	probably benign	Het
Ano3	T	A	2: 110,665,908	T834S	probably damaging	Het
As3mt	A	T	19: 46,719,981	I236F	probably benign	Het
Asns	A	T	6: 7,689,268	I78N	probably damaging	Het
Bet1	G	A	6: 4,082,471	T44M	probably damaging	Het
Cabyr	T	C	18: 12,751,350	V298A	possibly damaging	Het
Cacna1c	A	G	6: 118,612,637	V1601A		Het
Ccni	A	T	5: 93,202,342	M26K	probably damaging	Het
Cdhr2	T	C	13: 54,719,866	I503T	probably damaging	Het
Cfap54	T	C	10: 92,956,989	K1754R	unknown	Het
Cfap69	A	G	5: 5,626,041	V218A	possibly damaging	Het
Clcn3	A	G	8: 60,919,484	L741P	probably damaging	Het
Cntnap1	T	C	11: 101,178,002	F124L	possibly damaging	Het
Col20a1	G	A	2: 180,999,784	G673D	probably benign	Het
Col4a2	A	G	8: 11,437,628	I977V	probably benign	Het
Cyp3a59	A	T	5: 146,094,380	I118F	probably damaging	Het
Dgcr8	A	T	16: 18,280,419	D369E	probably benign	Het
Dhtkd1	T	C	2: 5,914,840	T577A	probably benign	Het
Dock2	A	T	11: 34,254,417	M1375K	probably benign	Het
Fa2h	G	A	8: 111,348,027	H315Y	probably damaging	Het
Foxd2	G	A	4: 114,908,487	P112L	unknown	Het
Gin1	A	G	1: 97,785,172	I317V	probably benign	Het
Gpr180	G	A	14: 118,153,890	G235R	probably damaging	Het
H2-T3	T	A	17: 36,189,852	Y33F	probably damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Il12rb1	G	A	8: 70,811,230	W145*	probably null	Het
Il6ra	A	G	3: 89,877,912	V330A	probably benign	Het
Impdh2	T	C	9: 108,561,648	S67P	possibly damaging	Het
Ltbp3	T	A	19: 5,742,493	S85T	probably benign	Het
Magi3	A	G	3: 104,049,142		probably null	Het
Mettl4	T	A	17: 94,727,378	I430F	probably damaging	Het
Mmd	T	A	11: 90,276,753	F203I	probably damaging	Het
Nlgn1	T	C	3: 25,439,871	T305A	possibly damaging	Het
Ntn1	A	G	11: 68,277,530	V367A	probably damaging	Het
Olfr1369-ps1	A	T	13: 21,115,722	H10L	probably benign	Het
Olfr1461	G	A	19: 13,165,524	C170Y	possibly damaging	Het
Pcdh12	T	C	18: 38,281,969	H701R	possibly damaging	Het
Pcgf3	G	A	5: 108,473,907		probably null	Het
Pik3c2g	G	A	6: 139,967,791	V972M	unknown	Het
Pink1	A	G	4: 138,314,012	C563R	possibly damaging	Het
Ptpro	T	G	6: 137,386,290	I474S	probably damaging	Het
Rabgef1	A	G	5: 130,212,940	E395G	probably benign	Het
Rpgrip1l	G	T	8: 91,260,763	H889N	possibly damaging	Het
Sapcd2	T	A	2: 25,372,913	C161*	probably null	Het
Sbsn	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	7: 30,752,966		probably benign	Het
Spen	A	G	4: 141,468,964	L3625P	probably damaging	Het
Stil	T	C	4: 115,021,504	I379T	probably benign	Het
Stim1	A	G	7: 102,428,807	D172G		Het
Timm50	A	G	7: 28,310,925	L68P	probably damaging	Het
Tlr9	C	T	9: 106,223,524	R5*	probably null	Het
Top1mt	A	T	15: 75,676,025	Y71N	probably damaging	Het
Trpv4	A	G	5: 114,633,224	Y415H	possibly damaging	Het
Try10	C	T	6: 41,354,107		probably benign	Het
Uhrf2	A	G	19: 30,086,380	E581G	probably damaging	Het
Usp17lb	G	A	7: 104,841,288	T144I	possibly damaging	Het
Vmn1r64	T	C	7: 5,883,860	N228S	probably benign	Het
Vwa1	G	A	4: 155,772,879	P154L	probably damaging	Het

Other mutations in Prol1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Prol1	APN	5	88327859	missense	probably benign	0.31
IGL00500:Prol1	APN	5	88328691	makesense	probably null
IGL01943:Prol1	APN	5	88327961	missense	probably benign	0.03
IGL03291:Prol1	APN	5	88328520	missense	unknown
R2144:Prol1	UTSW	5	88328395	missense	unknown
R2888:Prol1	UTSW	5	88328309	missense	unknown
R3849:Prol1	UTSW	5	88328617	missense	unknown
R4078:Prol1	UTSW	5	88328216	missense	unknown
R4079:Prol1	UTSW	5	88328216	missense	unknown
R4166:Prol1	UTSW	5	88328671	missense	unknown
R5447:Prol1	UTSW	5	88328266	missense	unknown
R5709:Prol1	UTSW	5	88327852	nonsense	probably null
R6253:Prol1	UTSW	5	88327877	missense	probably damaging	0.97
R7804:Prol1	UTSW	5	88328405	missense	unknown
R7935:Prol1	UTSW	5	88328015	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AAGTACTACCCTGTTATACAAGACC -3'
(R):5'- ATTGAGCCTGACACCATGGC -3'

Sequencing Primer
(F):5'- GTTATCTCCTCTAAAATGCATGAGC -3'
(R):5'- CTGACACCATGGCTGAAGTG -3'

Posted On

2022-10-06