Mutagenetix > Incidental Mutation

Incidental Mutation 'R0629:Proser1'

57740

Institutional Source

Beutler Lab

Gene Symbol

Proser1

Ensembl Gene

ENSMUSG00000049504

Gene Name

proline and serine rich 1

Synonyms

2810046L04Rik

MMRRC Submission

038818-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0629 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53463666-53481755 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 53479064 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 789 (P789Q)

Ref Sequence

ENSEMBL: ENSMUSP00000055253 (fasta)

Gene Model

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

AlphaFold

Q5PRE5

Predicted Effect

probably benign
Transcript: ENSMUST00000058577
AA Change: P789Q

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000055253
Gene: ENSMUSG00000049504
AA Change: P789Q

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

Meta Mutation Damage Score

0.2547

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

100% (66/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,507,547	D86V	probably damaging	Het
Adamts14	G	A	10: 61,211,624	Q733*	probably null	Het
Adcy10	A	G	1: 165,543,105	D651G	probably damaging	Het
Apcdd1	T	A	18: 62,933,970	C52S	probably damaging	Het
Bclaf1	T	C	10: 20,333,426	S463P	probably damaging	Het
Cabcoco1	T	C	10: 68,516,278	Y68C	probably damaging	Het
Cacna1f	G	A	X: 7,620,434	S888N	probably damaging	Het
Cacna1g	A	G	11: 94,409,543	C2134R	possibly damaging	Het
Cdc37	A	C	9: 21,140,768	M325R	possibly damaging	Het
Clca2	T	A	3: 145,072,239	M762L	probably benign	Het
Cntn3	C	T	6: 102,203,976	V753M	probably damaging	Het
Col6a6	A	T	9: 105,727,165		probably benign	Het
Dscaml1	A	G	9: 45,721,418	D1194G	probably damaging	Het
Egfr	G	A	11: 16,869,333	G288S	probably damaging	Het
Fbxl17	G	T	17: 63,471,414	N19K	probably damaging	Het
Fmo3	A	G	1: 162,958,227		probably benign	Het
Frmd6	T	C	12: 70,883,762	Y219H	probably damaging	Het
Fuca1	T	C	4: 135,925,644	V193A	possibly damaging	Het
Gm1141	G	C	X: 71,938,773	R296P	possibly damaging	Het
Gm7461	C	T	8: 4,677,769		noncoding transcript	Het
Gpc5	T	A	14: 115,552,239	N508K	possibly damaging	Het
Iqch	A	T	9: 63,425,382	D1019E	probably benign	Het
Isyna1	A	G	8: 70,594,708	Y27C	probably damaging	Het
Itgb8	T	G	12: 119,202,481	H105P	probably benign	Het
Kbtbd11	C	T	8: 15,027,572	P57L	probably benign	Het
Kcns3	A	C	12: 11,092,558	C47G	probably damaging	Het
Kif21b	A	T	1: 136,172,157		probably null	Het
Lama3	A	T	18: 12,419,245	H418L	possibly damaging	Het
Lrit3	A	G	3: 129,788,302	Y679H	probably damaging	Het
Lrrc19	T	A	4: 94,638,252	D356V	probably damaging	Het
Morc2b	A	G	17: 33,135,807	M997T	probably benign	Het
Mroh9	T	C	1: 163,060,636	H290R	possibly damaging	Het
Mtcl1	A	T	17: 66,338,142	S1886T	possibly damaging	Het
Muc20	T	C	16: 32,793,421	T529A	possibly damaging	Het
Myo7a	A	C	7: 98,085,466	L607R	probably damaging	Het
Myom2	T	A	8: 15,069,783	F180I	probably damaging	Het
Myt1l	G	A	12: 29,811,485	E89K	unknown	Het
Nek2	A	G	1: 191,831,317	N431S	probably benign	Het
Olfr1086	T	A	2: 86,676,529	H268L	possibly damaging	Het
Olfr169	A	T	16: 19,565,980	V301E	possibly damaging	Het
Oprm1	A	T	10: 6,832,604		probably null	Het
Oxsr1	A	G	9: 119,241,784		probably benign	Het
Pdgfrb	G	A	18: 61,078,648		probably null	Het
Ptgs2	A	G	1: 150,101,037	Q7R	probably benign	Het
Rab3d	A	G	9: 21,914,686	V144A	probably benign	Het
Ralgapb	T	A	2: 158,439,547	L167H	probably damaging	Het
Ranbp3	A	G	17: 56,708,200	T301A	possibly damaging	Het
Rasgrf1	G	A	9: 89,984,269	V587M	probably damaging	Het
Sec16b	A	G	1: 157,564,863		probably benign	Het
Sin3b	T	C	8: 72,753,536		probably benign	Het
Slc10a2	T	C	8: 5,098,562	S128G	probably benign	Het
Tbl1xr1	G	A	3: 22,210,401	V507I	probably benign	Het
Tmem8b	T	G	4: 43,669,896		probably null	Het
Trak1	A	T	9: 121,367,167	T22S	probably benign	Het
Trim30d	A	G	7: 104,487,655	I114T	probably damaging	Het
Ttc13	A	T	8: 124,674,366	S624T	probably damaging	Het
Ttn	T	C	2: 76,828,130		probably benign	Het
Vipr1	T	A	9: 121,660,171	Y99*	probably null	Het
Vmn1r210	T	C	13: 22,827,874	K81E	probably damaging	Het
Wwc1	T	C	11: 35,853,472	Y841C	probably benign	Het
Xrcc4	A	G	13: 90,000,905		probably benign	Het
Zdhhc22	A	T	12: 86,988,297	I127N	probably damaging	Het
Zdhhc7	A	G	8: 120,088,046	L8P	possibly damaging	Het
Zfp664	C	A	5: 124,885,595	L18I	probably damaging	Het

Other mutations in Proser1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02035:Proser1	APN	3	53478830	missense	probably benign	0.00
IGL02217:Proser1	APN	3	53471491	missense	probably damaging	0.96
IGL02260:Proser1	APN	3	53478944	missense	probably damaging	1.00
IGL02943:Proser1	APN	3	53479103	missense	probably damaging	0.98
donatello	UTSW	3	53467151	missense	probably damaging	1.00
R0166:Proser1	UTSW	3	53480617	missense	possibly damaging	0.89
R0230:Proser1	UTSW	3	53478962	missense	probably damaging	0.99
R0579:Proser1	UTSW	3	53467151	missense	probably damaging	1.00
R0599:Proser1	UTSW	3	53479064	missense	probably benign	0.04
R0616:Proser1	UTSW	3	53474697	missense	probably damaging	0.98
R0622:Proser1	UTSW	3	53477860	missense	probably benign	0.22
R0707:Proser1	UTSW	3	53478776	missense	probably damaging	1.00
R1568:Proser1	UTSW	3	53477759	missense	possibly damaging	0.54
R1997:Proser1	UTSW	3	53478871	missense	probably benign	0.10
R2129:Proser1	UTSW	3	53477945	missense	probably benign	0.20
R2207:Proser1	UTSW	3	53478391	missense	probably benign	0.00
R2851:Proser1	UTSW	3	53480545	missense	probably benign	0.07
R4077:Proser1	UTSW	3	53478541	missense	probably damaging	1.00
R4093:Proser1	UTSW	3	53479712	critical splice donor site	probably null
R4970:Proser1	UTSW	3	53464306	missense	probably damaging	1.00
R4988:Proser1	UTSW	3	53479625	missense	probably damaging	0.98
R5611:Proser1	UTSW	3	53478875	missense	probably benign	0.10
R6090:Proser1	UTSW	3	53478667	missense	probably benign	0.00
R6146:Proser1	UTSW	3	53478119	missense	probably damaging	1.00
R6459:Proser1	UTSW	3	53478329	missense	possibly damaging	0.51
R6880:Proser1	UTSW	3	53477839	missense	probably benign
R7308:Proser1	UTSW	3	53478704	missense	probably benign	0.40
R7456:Proser1	UTSW	3	53478518	missense	probably damaging	0.99
R7787:Proser1	UTSW	3	53473548	missense	probably damaging	1.00
R7903:Proser1	UTSW	3	53479082	nonsense	probably null
R8108:Proser1	UTSW	3	53472088	critical splice donor site	probably null
R8172:Proser1	UTSW	3	53478851	missense	possibly damaging	0.73
R8414:Proser1	UTSW	3	53478556	missense	probably damaging	1.00
R8677:Proser1	UTSW	3	53477701	missense	probably benign	0.01
R9064:Proser1	UTSW	3	53477506	missense	probably damaging	1.00
R9164:Proser1	UTSW	3	53472073	missense	probably benign	0.03
R9555:Proser1	UTSW	3	53471455	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CAGTGCCCATCAGTGTGTCTACTTG -3'
(R):5'- CTTGGTGAGAAGTGACTCGAACCTG -3'

Sequencing Primer
(F):5'- CCCTAGCTCTGCAACAGTG -3'
(R):5'- AAGTGACTCGAACCTGTCTGC -3'

Posted On

2013-07-11