Mutagenetix > Incidental Mutation

Incidental Mutation 'R5447:Prol1'

429125

Institutional Source

Beutler Lab

Gene Symbol

Prol1

Ensembl Gene

ENSMUSG00000064156

Gene Name

proline rich, lacrimal 1

Synonyms

Muc10

MMRRC Submission

043012-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R5447 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88465171-88476673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88476125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 172 (P172S)

Ref Sequence

ENSEMBL: ENSMUSP00000132678 (fasta)

Gene Model

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

AlphaFold

E9PYQ4

Predicted Effect

unknown
Transcript: ENSMUST00000170832
AA Change: P172S

SMART Domains

Protein: ENSMUSP00000132678
Gene: ENSMUSG00000064156
AA Change: P172S

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (71/73)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,891,061 (GRCm39)	I479V	probably damaging	Het
Adam30	A	G	3: 98,068,659 (GRCm39)	D164G	probably benign	Het
Adgrl3	T	A	5: 81,613,188 (GRCm39)		probably benign	Het
Adrb1	T	C	19: 56,711,519 (GRCm39)	I239T	probably benign	Het
Albfm1	C	A	5: 90,732,169 (GRCm39)	A458E	probably damaging	Het
B4galnt3	T	C	6: 120,192,018 (GRCm39)	T572A	probably benign	Het
Baz2b	T	C	2: 59,744,332 (GRCm39)	E1391G	probably damaging	Het
BC016579	A	G	16: 45,469,252 (GRCm39)	V72A	probably benign	Het
Btnl10	A	T	11: 58,813,144 (GRCm39)	I258F	probably benign	Het
Cdh5	A	T	8: 104,855,994 (GRCm39)	D309V	probably damaging	Het
Cdhr2	A	G	13: 54,881,063 (GRCm39)	D1042G	probably damaging	Het
Clk2	G	T	3: 89,074,498 (GRCm39)	V53F	possibly damaging	Het
Cyfip2	T	C	11: 46,182,413 (GRCm39)	D15G	possibly damaging	Het
Dip2b	C	T	15: 100,109,867 (GRCm39)	R1451C	probably damaging	Het
Dmbt1	A	G	7: 130,721,240 (GRCm39)	Y1836C	probably damaging	Het
Dysf	T	C	6: 84,172,245 (GRCm39)	F1905L	probably damaging	Het
E130114P18Rik	A	G	4: 97,578,955 (GRCm39)	S7P	unknown	Het
Fam110a	T	C	2: 151,812,629 (GRCm39)	E47G	probably damaging	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Helb	T	A	10: 119,938,806 (GRCm39)	D556V	possibly damaging	Het
Hoxd4	A	G	2: 74,557,687 (GRCm39)	E22G	probably damaging	Het
Hsd17b8	A	T	17: 34,245,886 (GRCm39)	V202D	probably damaging	Het
Il1rl2	T	G	1: 40,368,316 (GRCm39)	I162R	probably damaging	Het
Lhfpl5	A	G	17: 28,795,071 (GRCm39)	T33A	probably damaging	Het
Mapk8ip3	G	A	17: 25,118,163 (GRCm39)	A1283V	probably benign	Het
Mettl13	A	G	1: 162,363,449 (GRCm39)	V227A	probably benign	Het
Mmgt2	T	A	11: 62,555,824 (GRCm39)	C57*	probably null	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Mylk2	T	C	2: 152,754,430 (GRCm39)	S175P	probably damaging	Het
Neu4	C	T	1: 93,950,140 (GRCm39)	T33M	probably damaging	Het
Nfs1	C	T	2: 155,984,056 (GRCm39)	R107H	probably benign	Het
Nfxl1	C	T	5: 72,686,512 (GRCm39)	R563Q	probably benign	Het
Nid1	A	G	13: 13,612,495 (GRCm39)	D70G	probably benign	Het
Nup160	C	A	2: 90,555,959 (GRCm39)	Q1220K	possibly damaging	Het
Or1ad8	G	A	11: 50,898,170 (GRCm39)	V124M	possibly damaging	Het
Or1e22	A	G	11: 73,377,002 (GRCm39)	V216A	probably benign	Het
Or52s6	A	C	7: 103,092,147 (GRCm39)	M61R	probably damaging	Het
Or5k8	A	T	16: 58,644,846 (GRCm39)	C75*	probably null	Het
Pdgfrb	T	A	18: 61,201,180 (GRCm39)	V422E	probably damaging	Het
Pear1	G	A	3: 87,666,449 (GRCm39)	R85C	probably damaging	Het
Pkhd1	T	A	1: 20,309,609 (GRCm39)	M2780L	probably benign	Het
Ppp4r4	T	C	12: 103,550,410 (GRCm39)	V62A	possibly damaging	Het
Proz	A	G	8: 13,122,578 (GRCm39)	I231V	probably benign	Het
Ptch1	T	G	13: 63,675,059 (GRCm39)	M718L	probably benign	Het
Ptprs	A	G	17: 56,736,128 (GRCm39)	C102R	possibly damaging	Het
Robo2	A	T	16: 73,770,654 (GRCm39)	Y490*	probably null	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Skint6	T	A	4: 112,963,106 (GRCm39)	S442C	probably benign	Het
Snw1	T	C	12: 87,502,485 (GRCm39)	E303G	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Stk10	C	T	11: 32,554,166 (GRCm39)	Q618*	probably null	Het
Tmc3	A	T	7: 83,271,569 (GRCm39)	E907V	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttn	T	A	2: 76,729,451 (GRCm39)		probably benign	Het
Vps39	T	C	2: 120,183,413 (GRCm39)	D19G	probably benign	Het
Zan	T	C	5: 137,470,453 (GRCm39)	S229G	probably damaging	Het
Zfp141	A	T	7: 42,124,983 (GRCm39)	C496*	probably null	Het
Zgrf1	T	C	3: 127,356,768 (GRCm39)	S665P	possibly damaging	Het

Other mutations in Prol1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Prol1	APN	5	88,475,718 (GRCm39)	missense	probably benign	0.31
IGL00500:Prol1	APN	5	88,476,550 (GRCm39)	makesense	probably null
IGL01943:Prol1	APN	5	88,475,820 (GRCm39)	missense	probably benign	0.03
IGL03291:Prol1	APN	5	88,476,379 (GRCm39)	missense	unknown
R2144:Prol1	UTSW	5	88,476,254 (GRCm39)	missense	unknown
R2888:Prol1	UTSW	5	88,476,168 (GRCm39)	missense	unknown
R3849:Prol1	UTSW	5	88,476,476 (GRCm39)	missense	unknown
R4078:Prol1	UTSW	5	88,476,075 (GRCm39)	missense	unknown
R4079:Prol1	UTSW	5	88,476,075 (GRCm39)	missense	unknown
R4166:Prol1	UTSW	5	88,476,530 (GRCm39)	missense	unknown
R5709:Prol1	UTSW	5	88,475,711 (GRCm39)	nonsense	probably null
R6253:Prol1	UTSW	5	88,475,736 (GRCm39)	missense	probably damaging	0.97
R7804:Prol1	UTSW	5	88,476,264 (GRCm39)	missense	unknown
R7935:Prol1	UTSW	5	88,475,874 (GRCm39)	missense	probably damaging	0.97
R9697:Prol1	UTSW	5	88,466,426 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TATAAGATGTGCCCTCCAGGA -3'
(R):5'- AGAGGTGCTAGGCTTAGGTGAA -3'

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

Posted On

2016-09-06