Mutagenetix > Incidental Mutation

Incidental Mutation 'R5611:Proser1'

438008

Institutional Source

Beutler Lab

Gene Symbol

Proser1

Ensembl Gene

ENSMUSG00000049504

Gene Name

proline and serine rich 1

Synonyms

2810046L04Rik

MMRRC Submission

043273-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53371216-53389176 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53386296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 726 (N726S)

Ref Sequence

ENSEMBL: ENSMUSP00000055253 (fasta)

Gene Model

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

AlphaFold

Q5PRE5

Predicted Effect

probably benign
Transcript: ENSMUST00000058577
AA Change: N726S

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000055253
Gene: ENSMUSG00000049504
AA Change: N726S

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: ENSMUST00000141418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200328

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	G	C	11: 48,910,828 (GRCm39)	T535R	possibly damaging	Het
Adam34	A	T	8: 44,104,749 (GRCm39)	F299I	probably benign	Het
Adamts20	A	G	15: 94,171,161 (GRCm39)	M1854T	possibly damaging	Het
Adrm1b	G	A	3: 92,335,758 (GRCm39)	P315S	probably damaging	Het
Apbb1	A	G	7: 105,208,690 (GRCm39)	V581A	probably damaging	Het
Apol6	T	A	15: 76,935,240 (GRCm39)		probably null	Het
Arhgef37	T	C	18: 61,640,334 (GRCm39)	T242A	probably benign	Het
Asxl2	T	C	12: 3,534,598 (GRCm39)	V265A	probably damaging	Het
Bicd1	A	T	6: 149,414,954 (GRCm39)	R556*	probably null	Het
C2	A	G	17: 35,091,360 (GRCm39)	I101T	probably damaging	Het
Cd22	T	A	7: 30,577,575 (GRCm39)		probably benign	Het
Cd33	T	C	7: 43,181,542 (GRCm39)	H206R	probably damaging	Het
Cd5l	G	A	3: 87,275,082 (GRCm39)	G207D	possibly damaging	Het
Chrd	A	T	16: 20,557,724 (GRCm39)	D774V	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Csn1s1	A	T	5: 87,825,503 (GRCm39)		probably null	Het
Dpyd	G	A	3: 118,987,942 (GRCm39)	V704I	probably benign	Het
Dscc1	C	A	15: 54,945,569 (GRCm39)	Q312H	probably benign	Het
Dysf	A	T	6: 84,041,860 (GRCm39)	T154S	probably damaging	Het
Foxi2	T	C	7: 135,013,433 (GRCm39)	V221A	probably benign	Het
Gabbr2	A	T	4: 46,804,105 (GRCm39)	I250N	probably damaging	Het
Gfap	T	A	11: 102,787,895 (GRCm39)	T17S	probably benign	Het
Hcrtr2	A	G	9: 76,230,596 (GRCm39)	V64A	probably damaging	Het
Igkv4-86	A	G	6: 68,887,659 (GRCm39)	S27P	probably damaging	Het
Kalrn	G	T	16: 33,996,150 (GRCm39)	F903L	probably damaging	Het
Lrrc31	A	G	3: 30,745,304 (GRCm39)		probably null	Het
Mlh3	T	C	12: 85,314,219 (GRCm39)	T656A	probably benign	Het
Mss51	G	T	14: 20,533,174 (GRCm39)	S432R	possibly damaging	Het
Mzf1	A	G	7: 12,778,554 (GRCm39)		probably benign	Het
Nop58	T	A	1: 59,749,672 (GRCm39)		probably benign	Het
Or10al5	A	T	17: 38,062,975 (GRCm39)	I77F	possibly damaging	Het
Otogl	T	C	10: 107,622,630 (GRCm39)	E1652G	probably damaging	Het
Pikfyve	C	A	1: 65,295,247 (GRCm39)	N1459K	probably damaging	Het
Pkn3	G	A	2: 29,969,673 (GRCm39)	G61D	probably damaging	Het
Plekha4	T	C	7: 45,203,065 (GRCm39)	S581P	probably benign	Het
Ppm1g	A	G	5: 31,363,441 (GRCm39)	F256L	probably damaging	Het
Rapgef1	A	G	2: 29,592,448 (GRCm39)	D480G	probably damaging	Het
Reln	G	A	5: 22,244,663 (GRCm39)	Q772*	probably null	Het
Sh3gl2	T	C	4: 85,273,568 (GRCm39)	V40A	probably benign	Het
Slc22a23	G	A	13: 34,489,222 (GRCm39)	T221I	probably benign	Het
Slc22a28	T	A	19: 8,040,698 (GRCm39)	T518S	probably damaging	Het
Slc4a1ap	A	G	5: 31,711,173 (GRCm39)		probably benign	Het
St8sia4	T	C	1: 95,555,409 (GRCm39)	D207G	probably damaging	Het
Syde1	T	A	10: 78,421,725 (GRCm39)	T609S	probably benign	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Tle4	T	C	19: 14,427,159 (GRCm39)	D754G	probably damaging	Het
Ttn	C	T	2: 76,562,869 (GRCm39)	W26949*	probably null	Het
Vmn1r222	A	C	13: 23,416,743 (GRCm39)	S157A	probably damaging	Het
Vmn1r51	T	A	6: 90,106,692 (GRCm39)	L203M	probably benign	Het
Vmn1r6	T	C	6: 56,979,362 (GRCm39)	L8P	probably damaging	Het
Vmn2r103	A	G	17: 20,013,904 (GRCm39)	D232G	probably damaging	Het
Vmn2r17	T	A	5: 109,576,030 (GRCm39)	D300E	probably damaging	Het
Vmn2r66	T	A	7: 84,654,951 (GRCm39)	K453*	probably null	Het
Vps13a	A	T	19: 16,702,936 (GRCm39)	D672E	probably damaging	Het
Vps54	A	G	11: 21,261,130 (GRCm39)	N599S	possibly damaging	Het
Zc3h13	A	T	14: 75,568,348 (GRCm39)	N1214Y	probably benign	Het
Zc3h18	T	G	8: 123,135,109 (GRCm39)		probably null	Het
Zfp51	A	G	17: 21,684,354 (GRCm39)	E323G	probably damaging	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
R4988:Proser1	UTSW	3	53,387,046 (GRCm39)	missense	probably damaging	0.98
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'- ACCCCGTTAGCTGGTTCTATG -3'
(R):5'- TGAAGGCTGAGGCAAATCC -3'

Sequencing Primer
(F):5'- GTTAGCTGGTTCTATGTCCCTTCCG -3'
(R):5'- TAACTGCCACGGTAGAGGGC -3'

Posted On

2016-10-26