Mutagenetix > Incidental Mutation

Incidental Mutation 'R0166:Proser1'

24153

Institutional Source

Beutler Lab

Gene Symbol

Proser1

Ensembl Gene

ENSMUSG00000049504

Gene Name

proline and serine rich 1

Synonyms

2810046L04Rik

MMRRC Submission

038442-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0166 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

53371216-53389176 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 53388038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 909 (Q909K)

Ref Sequence

ENSEMBL: ENSMUSP00000055253 (fasta)

Gene Model

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

AlphaFold

Q5PRE5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058577
AA Change: Q909K

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000055253
Gene: ENSMUSG00000049504
AA Change: Q909K

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

0.0986

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 91.4%

Validation Efficiency

91% (49/54)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,903,468 (GRCm39)	F1040L	probably damaging	Het
Adamts7	A	G	9: 90,075,745 (GRCm39)	N1201S	probably benign	Het
Ahnak	C	T	19: 8,983,089 (GRCm39)	P1458S	probably damaging	Het
Akap6	T	C	12: 53,187,707 (GRCm39)	V1707A	probably benign	Het
Akr1c21	T	A	13: 4,631,263 (GRCm39)	V266E	probably damaging	Het
Arap2	A	C	5: 62,833,361 (GRCm39)	C894G	probably damaging	Het
Atp2a2	T	C	5: 122,604,901 (GRCm39)	D426G	possibly damaging	Het
Azi2	A	T	9: 117,884,909 (GRCm39)	Q132L	possibly damaging	Het
Carmil1	C	T	13: 24,283,032 (GRCm39)	D91N	probably damaging	Het
Cnot7	A	T	8: 40,960,494 (GRCm39)		probably null	Het
Cntnap5b	A	G	1: 100,202,086 (GRCm39)	E311G	probably benign	Het
Csmd1	A	G	8: 16,283,036 (GRCm39)	V640A	probably benign	Het
Cst7	T	C	2: 150,417,647 (GRCm39)	S31P	probably benign	Het
Cyp7b1	T	A	3: 18,151,530 (GRCm39)	I228L	probably benign	Het
Ddx28	G	A	8: 106,736,921 (GRCm39)	T379I	probably benign	Het
Drd1	T	A	13: 54,207,600 (GRCm39)	I205F	probably damaging	Het
Flnb	T	A	14: 7,896,115 (GRCm38)	V837D	probably damaging	Het
Fsd1l	A	G	4: 53,647,664 (GRCm39)		probably null	Het
Fubp1	T	A	3: 151,925,841 (GRCm39)	Y264*	probably null	Het
Gbp5	T	A	3: 142,212,680 (GRCm39)		probably null	Het
Gm7094	A	G	1: 21,342,958 (GRCm39)		noncoding transcript	Het
Gpr55	A	G	1: 85,868,858 (GRCm39)	V241A	probably benign	Het
Impa1	C	T	3: 10,394,020 (GRCm39)	A16T	probably damaging	Het
Llgl2	T	C	11: 115,735,680 (GRCm39)	L92P	probably damaging	Het
Ltbp2	T	A	12: 84,833,132 (GRCm39)	Q1472L	probably benign	Het
Lyplal1	A	T	1: 185,820,943 (GRCm39)	M168K	probably benign	Het
Macc1	A	T	12: 119,410,815 (GRCm39)	R528*	probably null	Het
Mdm1	T	A	10: 118,002,585 (GRCm39)	D635E	probably damaging	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mrpl23	C	T	7: 142,088,851 (GRCm39)	R69W	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nr0b2	A	G	4: 133,281,049 (GRCm39)	Q105R	probably damaging	Het
Or8b53	T	A	9: 38,667,484 (GRCm39)	S167T	probably benign	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Pcdhb14	A	T	18: 37,581,542 (GRCm39)		probably null	Het
Plxna1	A	G	6: 89,310,001 (GRCm39)	W1055R	probably damaging	Het
Pramel22	T	A	4: 143,381,081 (GRCm39)	H314L	probably benign	Het
Prdm1	C	T	10: 44,316,087 (GRCm39)	R716Q	probably damaging	Het
Pus10	T	A	11: 23,617,358 (GRCm39)	C24S	probably damaging	Het
Rpl27	T	A	11: 101,336,146 (GRCm39)	F69I	possibly damaging	Het
Sctr	A	T	1: 119,983,124 (GRCm39)	I325F	probably damaging	Het
Slc49a4	G	A	16: 35,539,684 (GRCm39)	T379I	possibly damaging	Het
Slc5a3	G	A	16: 91,874,581 (GRCm39)	V213I	possibly damaging	Het
Spib	G	T	7: 44,179,324 (GRCm39)	D28E	probably damaging	Het
Spic	T	C	10: 88,511,579 (GRCm39)	S226G	possibly damaging	Het
Tet1	T	A	10: 62,676,058 (GRCm39)	T673S	probably benign	Het
Tph1	A	G	7: 46,297,020 (GRCm39)	F392L	probably damaging	Het
Ttc28	T	C	5: 111,373,500 (GRCm39)	S979P	probably benign	Het
Unc79	T	C	12: 103,122,812 (GRCm39)	L2110P	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Zfp467	T	C	6: 48,415,615 (GRCm39)	T346A	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
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
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'- CAGTGAGCTGAGGCTCTGCTAAC -3'
(R):5'- CATGCAGCCAGAGGTCCAACTATC -3'

Sequencing Primer
(F):5'- AGGCTCTGCTAACCGCTTG -3'
(R):5'- CAAGCAGACTTAAGGCTGTGTTC -3'

Posted On

2013-04-16