Mutagenetix > Incidental Mutation

Incidental Mutation 'R7935:Prol1'

648669

Institutional Source

Beutler Lab

Gene Symbol

Prol1

Ensembl Gene

ENSMUSG00000064156

Gene Name

proline rich, lacrimal 1

Synonyms

Muc10

MMRRC Submission

045981-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R7935 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88465171-88476673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 88475874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 88 (L88R)

Ref Sequence

ENSEMBL: ENSMUSP00000132678 (fasta)

Gene Model

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

AlphaFold

E9PYQ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000170832
AA Change: L88R

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

SMART Domains

Protein: ENSMUSP00000132678
Gene: ENSMUSG00000064156
AA Change: L88R

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	G	9: 4,308,732 (GRCm39)	V124A	probably benign	Het
Abca4	A	G	3: 121,904,186 (GRCm39)	M746V	possibly damaging	Het
Aldh18a1	G	T	19: 40,562,226 (GRCm39)	S266*	probably null	Het
Aldh1b1	C	A	4: 45,802,968 (GRCm39)	H169N	probably benign	Het
Anpep	A	G	7: 79,476,709 (GRCm39)	I756T	possibly damaging	Het
Asb16	A	T	11: 102,168,739 (GRCm39)	E405V	probably benign	Het
B4galnt1	T	A	10: 127,007,490 (GRCm39)	F464I	probably damaging	Het
Bpifb5	A	G	2: 154,070,975 (GRCm39)	I225V	probably benign	Het
Brox	T	C	1: 183,062,484 (GRCm39)	E290G	probably damaging	Het
Cacna1s	T	A	1: 136,020,333 (GRCm39)	V790D	possibly damaging	Het
Cacng6	G	T	7: 3,473,384 (GRCm39)	K69N	possibly damaging	Het
Catsperg1	A	G	7: 28,895,344 (GRCm39)	I503T	possibly damaging	Het
Cdcp3	A	G	7: 130,852,205 (GRCm39)	N814D	probably damaging	Het
Celsr3	A	C	9: 108,706,840 (GRCm39)	M1108L	probably benign	Het
Chd2	T	C	7: 73,149,373 (GRCm39)	N449S	probably benign	Het
Cpne6	T	C	14: 55,750,066 (GRCm39)	C66R	possibly damaging	Het
Ctnna2	T	C	6: 76,919,270 (GRCm39)	E656G	probably damaging	Het
Dnah17	A	T	11: 118,018,048 (GRCm39)	M149K	probably benign	Het
Dpp8	A	T	9: 64,944,262 (GRCm39)	M10L	possibly damaging	Het
Dst	T	C	1: 34,329,486 (GRCm39)	L4838P	probably damaging	Het
Eif4g3	T	A	4: 137,824,082 (GRCm39)	I55N	probably damaging	Het
Gm10750	A	G	2: 148,858,017 (GRCm39)	L78P	unknown	Het
Gulo	T	G	14: 66,237,288 (GRCm39)	K200Q	probably benign	Het
Jmjd8	T	A	17: 26,048,071 (GRCm39)	L56Q	probably benign	Het
Kansl1	G	T	11: 104,315,112 (GRCm39)	Q309K	probably damaging	Het
Kcns3	A	C	12: 11,141,718 (GRCm39)	L327R	probably damaging	Het
Mapk10	A	G	5: 103,139,792 (GRCm39)	I153T	possibly damaging	Het
Muc5b	G	T	7: 141,400,569 (GRCm39)	M513I	unknown	Het
Nbea	A	G	3: 55,966,086 (GRCm39)	F459L	probably damaging	Het
Nrcam	G	A	12: 44,631,644 (GRCm39)	V1066I	possibly damaging	Het
Numa1	A	G	7: 101,651,538 (GRCm39)	K178E	probably damaging	Het
Or4b1	C	T	2: 89,979,928 (GRCm39)	V141M	probably benign	Het
Or5au1	T	C	14: 52,272,645 (GRCm39)	K308E	probably benign	Het
Or5d14	G	A	2: 87,880,290 (GRCm39)	T226M	probably damaging	Het
Pabpc4	C	T	4: 123,191,837 (GRCm39)	A649V	probably benign	Het
Parp12	C	A	6: 39,079,612 (GRCm39)	K299N	possibly damaging	Het
Pcdhga7	A	G	18: 37,849,562 (GRCm39)	D523G	possibly damaging	Het
Polr2a	T	C	11: 69,638,330 (GRCm39)	T79A	probably benign	Het
Ppp1r7	T	C	1: 93,273,904 (GRCm39)	S27P	probably damaging	Het
Pramel42	G	T	5: 94,685,440 (GRCm39)	D367Y	probably damaging	Het
Ptpn6	T	C	6: 124,709,425 (GRCm39)	Q57R	possibly damaging	Het
Rdh16	A	G	10: 127,637,334 (GRCm39)	I90V	probably benign	Het
Rock2	T	A	12: 16,998,558 (GRCm39)	C275S	probably damaging	Het
Rp1l1	G	T	14: 64,268,674 (GRCm39)	R1420L	probably damaging	Het
Sav1	A	G	12: 70,033,481 (GRCm39)	Y21H	probably damaging	Het
Sec24a	T	C	11: 51,612,749 (GRCm39)	N536S	probably benign	Het
Serpina9	A	C	12: 103,964,421 (GRCm39)	F339V	probably damaging	Het
Slc6a13	T	G	6: 121,311,450 (GRCm39)	L369V	possibly damaging	Het
Smarcd3	A	T	5: 24,801,024 (GRCm39)	F128I	probably damaging	Het
Smok2a	A	T	17: 13,444,599 (GRCm39)	I59F	probably damaging	Het
Spaca9	A	G	2: 28,583,634 (GRCm39)		probably null	Het
Ssx2ip	A	T	3: 146,124,928 (GRCm39)	E84D	probably benign	Het
Syt12	A	T	19: 4,497,830 (GRCm39)	V384E	probably benign	Het
Ticrr	T	A	7: 79,331,584 (GRCm39)	L727Q	probably damaging	Het
Tmem170b	A	G	13: 41,781,463 (GRCm39)	Y36C	probably damaging	Het
Tpd52l1	T	C	10: 31,214,201 (GRCm39)	T161A	probably damaging	Het
Zan	T	A	5: 137,461,841 (GRCm39)	T1113S	unknown	Het
Zfp512b	T	C	2: 181,231,689 (GRCm39)	T164A	probably damaging	Het
Zfp521	G	A	18: 13,977,549 (GRCm39)	P955S	probably damaging	Het
Zfp770	C	T	2: 114,027,305 (GRCm39)	V255I	probably benign	Het
Zfp942	A	T	17: 22,148,208 (GRCm39)	C140*	probably null	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
R5447:Prol1	UTSW	5	88,476,125 (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
R9697:Prol1	UTSW	5	88,466,426 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- CAGCCTGGTGAAAGTCATCA -3'
(R):5'- TACATTTGTGGTTGTTGCTGG -3'

Sequencing Primer
(F):5'- GAAGTTCACAATTCCCTGTCAG -3'
(R):5'- ACATTTGTGGTAGATTTGGTGGTC -3'

Posted On

2020-09-15