Mutagenetix > Incidental Mutation

Incidental Mutation 'R4078:Prol1'

316682

Institutional Source

Beutler Lab

Gene Symbol

Prol1

Ensembl Gene

ENSMUSG00000064156

Gene Name

proline rich, lacrimal 1

Synonyms

Muc10

MMRRC Submission

041623-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R4078 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88317312-88328814 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88328216 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 155 (N155S)

Ref Sequence

ENSEMBL: ENSMUSP00000132678 (fasta)

Gene Model

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

AlphaFold

E9PYQ4

Predicted Effect

unknown
Transcript: ENSMUST00000170832
AA Change: N155S

SMART Domains

Protein: ENSMUSP00000132678
Gene: ENSMUSG00000064156
AA Change: N155S

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,304,061	L367*	probably null	Het
Agfg1	T	A	1: 82,882,287	S312T	possibly damaging	Het
Akap8	C	T	17: 32,312,298	R380Q	probably damaging	Het
Ambp	T	A	4: 63,150,443	K112N	probably damaging	Het
Arl5c	A	T	11: 97,993,501	I88N	probably damaging	Het
Asah1	A	G	8: 41,354,082	S102P	probably damaging	Het
Atp10b	T	C	11: 43,153,283	V112A	probably benign	Het
C3	C	T	17: 57,205,303	D1542N	possibly damaging	Het
Cabs1	G	A	5: 87,980,302	E271K	probably damaging	Het
Car8	T	C	4: 8,169,731	K259R	possibly damaging	Het
Ccdc18	C	T	5: 108,158,528	Q270*	probably null	Het
Cdh4	A	G	2: 179,889,173	E616G	possibly damaging	Het
Cdk11b	C	T	4: 155,639,747		probably benign	Het
Cfap74	A	G	4: 155,455,671	D975G	probably damaging	Het
Col27a1	G	T	4: 63,224,432	R119L	probably damaging	Het
Col7a1	A	G	9: 108,960,991	N918S	unknown	Het
Colec11	T	C	12: 28,595,247	N142D	possibly damaging	Het
Cox7a2	G	A	9: 79,758,570	Q10*	probably null	Het
Cyp2b23	C	A	7: 26,673,092	G366V	probably damaging	Het
Emsy	G	A	7: 98,590,725	P1108S	probably damaging	Het
Etl4	A	T	2: 20,807,961	R1442S	probably damaging	Het
Fam151a	G	A	4: 106,747,757	G439S	probably benign	Het
Fat1	C	T	8: 44,989,122	P1154S	probably damaging	Het
Fat4	G	A	3: 38,980,020	S2607N	probably damaging	Het
Fzd7	T	A	1: 59,483,789	M277K	possibly damaging	Het
Fzd9	A	G	5: 135,249,636	V465A	probably benign	Het
Gm10436	T	A	12: 88,175,913	I312F	probably benign	Het
Gm2016	A	G	12: 87,876,631	K16R	unknown	Het
Gm38706	G	T	6: 130,483,737		noncoding transcript	Het
Gm9758	T	A	5: 14,911,522		probably null	Het
Gpr3	T	C	4: 133,210,915	T149A	probably damaging	Het
Heatr9	C	A	11: 83,512,428	K428N	probably benign	Het
Hgs	T	A	11: 120,483,048	S723T	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Kcnn3	A	G	3: 89,661,188	K591R	possibly damaging	Het
Khdrbs2	T	C	1: 32,519,814		probably benign	Het
Lpp	G	A	16: 24,681,861	R141H	probably damaging	Het
Lrpap1	A	G	5: 35,096,037	I261T	possibly damaging	Het
Macf1	T	A	4: 123,472,091	Q2959L	probably benign	Het
Mipep	T	A	14: 60,846,477	Y606N	probably damaging	Het
Mroh5	C	A	15: 73,786,040	C547F	possibly damaging	Het
Nek3	A	T	8: 22,132,137	W363R	probably damaging	Het
Nphs1	T	A	7: 30,467,520	Y717*	probably null	Het
Obscn	A	G	11: 59,038,363	V6145A	probably benign	Het
Olfr167	T	A	16: 19,515,232	M135L	possibly damaging	Het
Olfr365	T	A	2: 37,202,012	I257N	possibly damaging	Het
Olfr508	T	A	7: 108,630,907	M305K	probably benign	Het
Olfr824	G	A	10: 130,126,718	T113I	probably damaging	Het
Optc	T	C	1: 133,898,349	H270R	probably damaging	Het
Pik3c2g	A	G	6: 139,635,610		probably benign	Het
Pms1	A	T	1: 53,267,789		probably null	Het
Prkg1	T	C	19: 31,585,578	Y156C	probably damaging	Het
Rapgefl1	A	G	11: 98,849,977	T552A	probably benign	Het
Slc22a28	T	A	19: 8,101,413	H304L	probably benign	Het
Stox1	C	T	10: 62,666,031	C250Y	probably benign	Het
Sult2a3	A	G	7: 14,121,737	W65R	possibly damaging	Het
Syce1	C	A	7: 140,779,896	L83F	probably damaging	Het
Syne2	C	A	12: 76,035,624	T4857K	probably damaging	Het
Tcp1	T	C	17: 12,918,083	L64S	probably benign	Het
Thap11	G	T	8: 105,855,916	E186*	probably null	Het
Tmem67	A	G	4: 12,040,633		probably null	Het
Trappc10	T	C	10: 78,210,382	Y458C	probably damaging	Het
Ufd1	A	G	16: 18,825,778	Y197C	possibly damaging	Het
Ung	G	T	5: 114,130,623		probably null	Het
Usp49	A	G	17: 47,674,749	T245A	probably damaging	Het
Washc1	A	T	17: 66,117,161	E289D	probably benign	Het
Zc3h7a	A	T	16: 11,151,147	V450E	probably benign	Het
Zcchc17	T	G	4: 130,329,625	I123L	possibly damaging	Het
Zfp955a	A	G	17: 33,241,701	Y486H	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
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
R9697:Prol1	UTSW	5	88318567	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- GTATAAGATGTGCCCTCCAGG -3'
(R):5'- GAGGTGCTAGGCTTAGGTGA -3'

Sequencing Primer
(F):5'- TAATGCTGATCAGTCGCCG -3'
(R):5'- GCTAGGCTTAGGTGAAGTAGTAG -3'

Posted On

2015-05-15