Mutagenetix > Incidental Mutation

Incidental Mutation 'R6253:Prol1'

506322

Institutional Source

Beutler Lab

Gene Symbol

Prol1

Ensembl Gene

ENSMUSG00000064156

Gene Name

proline rich, lacrimal 1

Synonyms

Muc10

MMRRC Submission

044370-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R6253 (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 G at 88327877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 42 (Y42C)

Ref Sequence

ENSEMBL: ENSMUSP00000132678 (fasta)

Gene Model

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

AlphaFold

E9PYQ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000170832
AA Change: Y42C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132678
Gene: ENSMUSG00000064156
AA Change: Y42C

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: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,524,118	Y151H	possibly damaging	Het
Aasdh	A	G	5: 76,886,258	I482T	possibly damaging	Het
Abca3	G	A	17: 24,397,552	M989I	probably benign	Het
Acvr2b	C	T	9: 119,428,561	P220L	probably damaging	Het
Aqr	T	C	2: 114,156,277	D204G	possibly damaging	Het
Arpp19	G	T	9: 75,056,734	D123Y	probably damaging	Het
Bod1l	A	G	5: 41,826,538	I554T	probably damaging	Het
Bpifa5	A	G	2: 154,163,500	M1V	probably null	Het
Cdh3	T	A	8: 106,537,063		probably null	Het
Cep170	A	T	1: 176,780,394	D165E	possibly damaging	Het
Cfap46	CCTTCTTCT	CCTTCT	7: 139,638,900		probably benign	Het
Cog3	A	G	14: 75,719,712	L627P	probably damaging	Het
Col23a1	C	T	11: 51,574,168	L453F	probably damaging	Het
Cyp2a22	T	A	7: 26,934,232	Q351L	probably benign	Het
Ddx4	C	A	13: 112,636,022	E78*	probably null	Het
Ddx4	T	G	13: 112,636,023	K77N	probably benign	Het
Decr1	A	T	4: 15,931,179	N92K	probably benign	Het
Dnm2	T	C	9: 21,500,275	L600P	probably damaging	Het
Ece2	A	C	16: 20,639,182	N356H	probably damaging	Het
Ern1	A	T	11: 106,426,908	I130N	possibly damaging	Het
Fat2	G	A	11: 55,296,271	R1250C	probably damaging	Het
Fat4	T	A	3: 38,951,356	V1968D	probably damaging	Het
Frmd6	A	G	12: 70,877,213	K82E	probably damaging	Het
Gm5431	A	G	11: 48,894,999	V183A	probably benign	Het
Golgb1	T	C	16: 36,915,622	S1744P	possibly damaging	Het
Hnrnpa3	C	G	2: 75,662,570	Q213E	possibly damaging	Het
Hspa1a	A	G	17: 34,970,550	F459S	probably damaging	Het
Ice1	A	G	13: 70,603,164	L1601P	probably damaging	Het
Igkv19-93	T	A	6: 68,736,339	D102V	probably damaging	Het
Kansl1	G	A	11: 104,357,526	T534I	probably benign	Het
Lpin2	T	A	17: 71,231,269	S303R	probably damaging	Het
Lrpprc	T	A	17: 84,740,637	I845F	probably benign	Het
Mdn1	A	G	4: 32,749,593	T4259A	probably benign	Het
Mtss1	A	G	15: 58,943,719	I664T	probably benign	Het
Mum1	T	A	10: 80,233,014	C331S	probably benign	Het
Myh8	A	G	11: 67,301,967	E1528G	probably benign	Het
Myo5c	A	T	9: 75,245,037	E69V	probably damaging	Het
Myom3	A	T	4: 135,785,892	D627V	probably benign	Het
Myom3	A	G	4: 135,801,003	N1053S	probably benign	Het
Olfr1336	T	C	7: 6,460,548	V13A	probably benign	Het
Olfr17	G	A	7: 107,098,257	R264H	possibly damaging	Het
Olfr715b	A	T	7: 107,105,938	S308T	probably benign	Het
Phactr1	T	A	13: 43,094,771	S399T	probably benign	Het
Plch2	T	A	4: 155,007,101	Y84F	probably damaging	Het
Ppp1r13b	A	G	12: 111,835,726	S278P	probably benign	Het
Pum2	A	G	12: 8,748,205	E906G	probably damaging	Het
Rbp2	G	T	9: 98,490,647	S13I	probably benign	Het
Rbp4	G	A	19: 38,124,980	T30M	probably benign	Het
Selenbp1	T	C	3: 94,943,846	L351P	possibly damaging	Het
Serpinb6b	T	C	13: 32,972,272	F115S	probably damaging	Het
Soga1	T	C	2: 157,021,419	S1197G	probably benign	Het
Tigd3	A	T	19: 5,892,842	Y87N	probably damaging	Het
Tigd5	T	A	15: 75,911,022	L411H	probably damaging	Het
Ttc3	T	C	16: 94,457,413		probably null	Het
Uhmk1	T	C	1: 170,199,880	Q416R	probably damaging	Het
Zfand4	T	C	6: 116,273,614	F2L	probably damaging	Het
Zfhx3	C	T	8: 108,955,388	T3153M	possibly damaging	Het
Zfp697	T	G	3: 98,427,539	C207G	possibly damaging	Het
Zfp935	T	C	13: 62,454,871	T172A	probably benign	Het
Znrf3	G	T	11: 5,280,865	L883I	probably benign	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
R7804:Prol1	UTSW	5	88328405	missense	unknown
R7935:Prol1	UTSW	5	88328015	missense	probably damaging	0.97
R9697:Prol1	UTSW	5	88318567	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- AGAGGTGCTCAAAGTCTCCA -3'
(R):5'- TGCATTTGGTTTCGTTTTATCAGAGA -3'

Sequencing Primer
(F):5'- CCAAACATGTGATCAATGTGTGG -3'
(R):5'- CTGGAGGGCACATCTTAT -3'

Posted On

2018-03-15