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

53371216-53389176 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53387046 bp (GRCm39)

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: 130,670,447 (GRCm39)	G223E	probably damaging	Het
Abcb11	T	C	2: 69,154,236 (GRCm39)	N110S	probably benign	Het
Acaca	T	A	11: 84,154,121 (GRCm39)	H947Q	probably damaging	Het
Akap13	T	C	7: 75,380,276 (GRCm39)	M2202T	probably damaging	Het
Amy2b	T	C	3: 113,058,550 (GRCm39)		noncoding transcript	Het
Arhgef4	A	T	1: 34,762,535 (GRCm39)	H597L	unknown	Het
Asgr2	A	G	11: 69,988,665 (GRCm39)	I119M	probably benign	Het
Casc3	T	G	11: 98,712,700 (GRCm39)		probably null	Het
Cbr1b	A	G	16: 93,426,884 (GRCm39)	T162A	probably benign	Het
Ccdc7b	T	A	8: 129,872,013 (GRCm39)	M239K	possibly damaging	Het
Cdc27	A	G	11: 104,416,950 (GRCm39)	S334P	possibly damaging	Het
Ces1c	T	C	8: 93,827,336 (GRCm39)	E476G	probably damaging	Het
Clec3a	T	A	8: 115,144,827 (GRCm39)	M1K	probably null	Het
Col9a1	T	C	1: 24,224,273 (GRCm39)	S152P	unknown	Het
Cpd	A	G	11: 76,705,656 (GRCm39)	S359P	probably damaging	Het
Ctnnal1	A	T	4: 56,847,854 (GRCm39)	L95*	probably null	Het
Dhx57	T	C	17: 80,558,827 (GRCm39)	D1044G	probably damaging	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Efcab5	A	G	11: 77,028,078 (GRCm39)	S418P	probably damaging	Het
Elp5	T	C	11: 69,870,668 (GRCm39)	D59G	probably benign	Het
Fam210a	G	A	18: 68,409,218 (GRCm39)	R31C	probably benign	Het
Farp1	A	G	14: 121,513,019 (GRCm39)	T792A	probably damaging	Het
Fmc1	A	T	6: 38,511,917 (GRCm39)	Y37F	probably benign	Het
Gm10717	T	A	9: 3,026,368 (GRCm39)	L72M	probably benign	Het
Gm1758	A	T	16: 14,320,067 (GRCm39)		noncoding transcript	Het
Gm4553	G	A	7: 141,718,729 (GRCm39)		probably benign	Het
Gpr156	A	G	16: 37,768,577 (GRCm39)	T33A	possibly damaging	Het
Hhat	A	T	1: 192,339,602 (GRCm39)		probably benign	Het
Hint2	T	C	4: 43,654,953 (GRCm39)	I59V	possibly damaging	Het
Hps4	C	T	5: 112,526,019 (GRCm39)		probably benign	Het
Hsd17b8	A	G	17: 34,246,262 (GRCm39)	F137S	probably damaging	Het
Klrc2	A	T	6: 129,633,426 (GRCm39)	C192S	probably benign	Het
Map1a	C	T	2: 121,133,531 (GRCm39)	T1211I	probably benign	Het
Mtus1	T	C	8: 41,537,578 (GRCm39)	N46S	probably benign	Het
Myo18a	T	C	11: 77,736,347 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,458,266 (GRCm39)	S1258P	probably benign	Het
Ndst1	C	T	18: 60,836,005 (GRCm39)	G426D	probably damaging	Het
Nepro	A	G	16: 44,554,905 (GRCm39)	E327G	possibly damaging	Het
Nutm2	C	T	13: 50,626,379 (GRCm39)	T322I	possibly damaging	Het
Or10s1	G	A	9: 39,985,961 (GRCm39)	M123I	probably damaging	Het
Or1j18	T	C	2: 36,624,996 (GRCm39)	I221T	possibly damaging	Het
Or2m13	A	T	16: 19,225,860 (GRCm39)	M302K	probably benign	Het
Or6c66	T	C	10: 129,461,930 (GRCm39)		probably null	Het
Pcdhb15	G	A	18: 37,608,855 (GRCm39)	A696T	probably damaging	Het
Polm	C	A	11: 5,787,618 (GRCm39)	R45L	probably damaging	Het
Pon3	G	A	6: 5,254,582 (GRCm39)	R27*	probably null	Het
Rassf8	A	G	6: 145,762,870 (GRCm39)	N406D	possibly damaging	Het
Skint10	A	T	4: 112,586,069 (GRCm39)	C182*	probably null	Het
Slc6a19	C	T	13: 73,833,959 (GRCm39)	W366*	probably null	Het
St7	T	C	6: 17,934,225 (GRCm39)	F470L	probably damaging	Het
St8sia4	T	A	1: 95,519,522 (GRCm39)	Y322F	possibly damaging	Het
Trav8n-2	A	T	14: 53,975,814 (GRCm39)		probably benign	Het
Vwa8	A	T	14: 79,435,723 (GRCm39)	H1811L	probably benign	Het
Zfp14	G	A	7: 29,737,482 (GRCm39)	T501I	probably benign	Het

Other mutations in Proser1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02035:Proser1	APN	3	53,386,251 (GRCm39)	missense	probably benign	0.00
IGL02217:Proser1	APN	3	53,378,912 (GRCm39)	missense	probably damaging	0.96
IGL02260:Proser1	APN	3	53,386,365 (GRCm39)	missense	probably damaging	1.00
IGL02943:Proser1	APN	3	53,386,524 (GRCm39)	missense	probably damaging	0.98
donatello	UTSW	3	53,374,572 (GRCm39)	missense	probably damaging	1.00
R0166:Proser1	UTSW	3	53,388,038 (GRCm39)	missense	possibly damaging	0.89
R0230:Proser1	UTSW	3	53,386,383 (GRCm39)	missense	probably damaging	0.99
R0579:Proser1	UTSW	3	53,374,572 (GRCm39)	missense	probably damaging	1.00
R0599:Proser1	UTSW	3	53,386,485 (GRCm39)	missense	probably benign	0.04
R0616:Proser1	UTSW	3	53,382,118 (GRCm39)	missense	probably damaging	0.98
R0622:Proser1	UTSW	3	53,385,281 (GRCm39)	missense	probably benign	0.22
R0629:Proser1	UTSW	3	53,386,485 (GRCm39)	missense	probably benign	0.04
R0707:Proser1	UTSW	3	53,386,197 (GRCm39)	missense	probably damaging	1.00
R1568:Proser1	UTSW	3	53,385,180 (GRCm39)	missense	possibly damaging	0.54
R1997:Proser1	UTSW	3	53,386,292 (GRCm39)	missense	probably benign	0.10
R2129:Proser1	UTSW	3	53,385,366 (GRCm39)	missense	probably benign	0.20
R2207:Proser1	UTSW	3	53,385,812 (GRCm39)	missense	probably benign	0.00
R2851:Proser1	UTSW	3	53,387,966 (GRCm39)	missense	probably benign	0.07
R4077:Proser1	UTSW	3	53,385,962 (GRCm39)	missense	probably damaging	1.00
R4093:Proser1	UTSW	3	53,387,133 (GRCm39)	critical splice donor site	probably null
R4970:Proser1	UTSW	3	53,371,727 (GRCm39)	missense	probably damaging	1.00
R5611:Proser1	UTSW	3	53,386,296 (GRCm39)	missense	probably benign	0.10
R6090:Proser1	UTSW	3	53,386,088 (GRCm39)	missense	probably benign	0.00
R6146:Proser1	UTSW	3	53,385,540 (GRCm39)	missense	probably damaging	1.00
R6459:Proser1	UTSW	3	53,385,750 (GRCm39)	missense	possibly damaging	0.51
R6880:Proser1	UTSW	3	53,385,260 (GRCm39)	missense	probably benign
R7308:Proser1	UTSW	3	53,386,125 (GRCm39)	missense	probably benign	0.40
R7456:Proser1	UTSW	3	53,385,939 (GRCm39)	missense	probably damaging	0.99
R7787:Proser1	UTSW	3	53,380,969 (GRCm39)	missense	probably damaging	1.00
R7903:Proser1	UTSW	3	53,386,503 (GRCm39)	nonsense	probably null
R8108:Proser1	UTSW	3	53,379,509 (GRCm39)	critical splice donor site	probably null
R8172:Proser1	UTSW	3	53,386,272 (GRCm39)	missense	possibly damaging	0.73
R8414:Proser1	UTSW	3	53,385,977 (GRCm39)	missense	probably damaging	1.00
R8677:Proser1	UTSW	3	53,385,122 (GRCm39)	missense	probably benign	0.01
R9064:Proser1	UTSW	3	53,384,927 (GRCm39)	missense	probably damaging	1.00
R9164:Proser1	UTSW	3	53,379,494 (GRCm39)	missense	probably benign	0.03
R9555:Proser1	UTSW	3	53,378,876 (GRCm39)	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