Mutagenetix > Incidental Mutation

Incidental Mutation 'R4988:Proser1'

385941

Institutional Source

Beutler Lab

Gene Symbol

Proser1

Ensembl Gene

ENSMUSG00000049504

Gene Name

proline and serine rich 1

Synonyms

2810046L04Rik

MMRRC Submission

042582-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4988 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

53463666-53481755 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53479625 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 845 (I845T)

Ref Sequence

ENSEMBL: ENSMUSP00000055253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058577]

AlphaFold

Q5PRE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000058577
AA Change: I845T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055253
Gene: ENSMUSG00000049504
AA Change: I845T

Domain	Start	End	E-Value	Type
Pfam:DUF4476	1	63	5e-12	PFAM
Pfam:DUF4476	30	121	4e-27	PFAM
low complexity region	227	246	N/A	INTRINSIC
low complexity region	276	297	N/A	INTRINSIC
low complexity region	302	316	N/A	INTRINSIC
low complexity region	321	331	N/A	INTRINSIC
low complexity region	335	357	N/A	INTRINSIC
low complexity region	399	412	N/A	INTRINSIC
low complexity region	696	718	N/A	INTRINSIC
low complexity region	781	804	N/A	INTRINSIC
low complexity region	806	817	N/A	INTRINSIC
low complexity region	820	834	N/A	INTRINSIC
low complexity region	854	880	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200328

Meta Mutation Damage Score

0.0888

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	G	A	1: 130,742,710 (GRCm38)	G223E	probably damaging	Het
Abcb11	T	C	2: 69,323,892 (GRCm38)	N110S	probably benign	Het
Acaca	T	A	11: 84,263,295 (GRCm38)	H947Q	probably damaging	Het
Akap13	T	C	7: 75,730,528 (GRCm38)	M2202T	probably damaging	Het
Amy2b	T	C	3: 113,151,234 (GRCm38)		noncoding transcript	Het
Arhgef4	A	T	1: 34,723,454 (GRCm38)	H597L	unknown	Het
Asgr2	A	G	11: 70,097,839 (GRCm38)	I119M	probably benign	Het
Casc3	T	G	11: 98,821,874 (GRCm38)		probably null	Het
Cbr1b	A	G	16: 93,629,996 (GRCm38)	T162A	probably benign	Het
Ccdc7b	T	A	8: 129,145,532 (GRCm38)	M239K	possibly damaging	Het
Cdc27	A	G	11: 104,526,124 (GRCm38)	S334P	possibly damaging	Het
Ces1c	T	C	8: 93,100,708 (GRCm38)	E476G	probably damaging	Het
Clec3a	T	A	8: 114,418,087 (GRCm38)	M1K	probably null	Het
Col9a1	T	C	1: 24,185,192 (GRCm38)	S152P	unknown	Het
Cpd	A	G	11: 76,814,830 (GRCm38)	S359P	probably damaging	Het
Ctnnal1	A	T	4: 56,847,854 (GRCm38)	L95*	probably null	Het
Dhx57	T	C	17: 80,251,398 (GRCm38)	D1044G	probably damaging	Het
Dync1h1	C	A	12: 110,658,126 (GRCm38)	T3700N	probably damaging	Het
Efcab5	A	G	11: 77,137,252 (GRCm38)	S418P	probably damaging	Het
Elp5	T	C	11: 69,979,842 (GRCm38)	D59G	probably benign	Het
Fam210a	G	A	18: 68,276,147 (GRCm38)	R31C	probably benign	Het
Farp1	A	G	14: 121,275,607 (GRCm38)	T792A	probably damaging	Het
Fmc1	A	T	6: 38,534,982 (GRCm38)	Y37F	probably benign	Het
Gm10717	T	A	9: 3,026,368 (GRCm38)	L72M	probably benign	Het
Gm1758	A	T	16: 14,502,203 (GRCm38)		noncoding transcript	Het
Gm4553	G	A	7: 142,164,992 (GRCm38)		probably benign	Het
Gpr156	A	G	16: 37,948,215 (GRCm38)	T33A	possibly damaging	Het
Hhat	A	T	1: 192,657,294 (GRCm38)		probably benign	Het
Hint2	T	C	4: 43,654,953 (GRCm38)	I59V	possibly damaging	Het
Hps4	C	T	5: 112,378,153 (GRCm38)		probably benign	Het
Hsd17b8	A	G	17: 34,027,288 (GRCm38)	F137S	probably damaging	Het
Klrc2	A	T	6: 129,656,463 (GRCm38)	C192S	probably benign	Het
Map1a	C	T	2: 121,303,050 (GRCm38)	T1211I	probably benign	Het
Mtus1	T	C	8: 41,084,541 (GRCm38)	N46S	probably benign	Het
Myo18a	T	C	11: 77,845,521 (GRCm38)		probably null	Het
Nbas	T	C	12: 13,408,265 (GRCm38)	S1258P	probably benign	Het
Ndst1	C	T	18: 60,702,933 (GRCm38)	G426D	probably damaging	Het
Nepro	A	G	16: 44,734,542 (GRCm38)	E327G	possibly damaging	Het
Nutm2	C	T	13: 50,472,343 (GRCm38)	T322I	possibly damaging	Het
Or10s1	G	A	9: 40,074,665 (GRCm38)	M123I	probably damaging	Het
Or1j18	T	C	2: 36,734,984 (GRCm38)	I221T	possibly damaging	Het
Or2m13	A	T	16: 19,407,110 (GRCm38)	M302K	probably benign	Het
Or6c66	T	C	10: 129,626,061 (GRCm38)		probably null	Het
Pcdhb15	G	A	18: 37,475,802 (GRCm38)	A696T	probably damaging	Het
Polm	C	A	11: 5,837,618 (GRCm38)	R45L	probably damaging	Het
Pon3	G	A	6: 5,254,582 (GRCm38)	R27*	probably null	Het
Rassf8	A	G	6: 145,817,144 (GRCm38)	N406D	possibly damaging	Het
Skint10	A	T	4: 112,728,872 (GRCm38)	C182*	probably null	Het
Slc6a19	C	T	13: 73,685,840 (GRCm38)	W366*	probably null	Het
St7	T	C	6: 17,934,226 (GRCm38)	F470L	probably damaging	Het
St8sia4	T	A	1: 95,591,797 (GRCm38)	Y322F	possibly damaging	Het
Trav8-2	A	T	14: 53,738,357 (GRCm38)		probably benign	Het
Vwa8	A	T	14: 79,198,283 (GRCm38)	H1811L	probably benign	Het
Zfp14	G	A	7: 30,038,057 (GRCm38)	T501I	probably benign	Het

Other mutations in Proser1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02035:Proser1	APN	3	53,478,830 (GRCm38)	missense	probably benign	0.00
IGL02217:Proser1	APN	3	53,471,491 (GRCm38)	missense	probably damaging	0.96
IGL02260:Proser1	APN	3	53,478,944 (GRCm38)	missense	probably damaging	1.00
IGL02943:Proser1	APN	3	53,479,103 (GRCm38)	missense	probably damaging	0.98
donatello	UTSW	3	53,467,151 (GRCm38)	missense	probably damaging	1.00
R0166:Proser1	UTSW	3	53,480,617 (GRCm38)	missense	possibly damaging	0.89
R0230:Proser1	UTSW	3	53,478,962 (GRCm38)	missense	probably damaging	0.99
R0579:Proser1	UTSW	3	53,467,151 (GRCm38)	missense	probably damaging	1.00
R0599:Proser1	UTSW	3	53,479,064 (GRCm38)	missense	probably benign	0.04
R0616:Proser1	UTSW	3	53,474,697 (GRCm38)	missense	probably damaging	0.98
R0622:Proser1	UTSW	3	53,477,860 (GRCm38)	missense	probably benign	0.22
R0629:Proser1	UTSW	3	53,479,064 (GRCm38)	missense	probably benign	0.04
R0707:Proser1	UTSW	3	53,478,776 (GRCm38)	missense	probably damaging	1.00
R1568:Proser1	UTSW	3	53,477,759 (GRCm38)	missense	possibly damaging	0.54
R1997:Proser1	UTSW	3	53,478,871 (GRCm38)	missense	probably benign	0.10
R2129:Proser1	UTSW	3	53,477,945 (GRCm38)	missense	probably benign	0.20
R2207:Proser1	UTSW	3	53,478,391 (GRCm38)	missense	probably benign	0.00
R2851:Proser1	UTSW	3	53,480,545 (GRCm38)	missense	probably benign	0.07
R4077:Proser1	UTSW	3	53,478,541 (GRCm38)	missense	probably damaging	1.00
R4093:Proser1	UTSW	3	53,479,712 (GRCm38)	critical splice donor site	probably null
R4970:Proser1	UTSW	3	53,464,306 (GRCm38)	missense	probably damaging	1.00
R5611:Proser1	UTSW	3	53,478,875 (GRCm38)	missense	probably benign	0.10
R6090:Proser1	UTSW	3	53,478,667 (GRCm38)	missense	probably benign	0.00
R6146:Proser1	UTSW	3	53,478,119 (GRCm38)	missense	probably damaging	1.00
R6459:Proser1	UTSW	3	53,478,329 (GRCm38)	missense	possibly damaging	0.51
R6880:Proser1	UTSW	3	53,477,839 (GRCm38)	missense	probably benign
R7308:Proser1	UTSW	3	53,478,704 (GRCm38)	missense	probably benign	0.40
R7456:Proser1	UTSW	3	53,478,518 (GRCm38)	missense	probably damaging	0.99
R7787:Proser1	UTSW	3	53,473,548 (GRCm38)	missense	probably damaging	1.00
R7903:Proser1	UTSW	3	53,479,082 (GRCm38)	nonsense	probably null
R8108:Proser1	UTSW	3	53,472,088 (GRCm38)	critical splice donor site	probably null
R8172:Proser1	UTSW	3	53,478,851 (GRCm38)	missense	possibly damaging	0.73
R8414:Proser1	UTSW	3	53,478,556 (GRCm38)	missense	probably damaging	1.00
R8677:Proser1	UTSW	3	53,477,701 (GRCm38)	missense	probably benign	0.01
R9064:Proser1	UTSW	3	53,477,506 (GRCm38)	missense	probably damaging	1.00
R9164:Proser1	UTSW	3	53,472,073 (GRCm38)	missense	probably benign	0.03
R9555:Proser1	UTSW	3	53,471,455 (GRCm38)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ACAGTGACTCATTCCTGCAC -3'
(R):5'- AGAACGAATGAAACCAATCTTCTGG -3'

Sequencing Primer
(F):5'- CTACAGAGGAGCTCATTTGTTCGC -3'
(R):5'- ACCAATCTTCTGGATTCTGGTAAGC -3'

Posted On

2016-05-10