Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02943:Proser1'

364608

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Proser1

Ensembl Gene

ENSMUSG00000049504

Gene Name

proline and serine rich 1

Synonyms

2810046L04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02943

Quality Score

Status

Chromosome

Chromosomal Location

53371216-53389176 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53386524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 802 (V802A)

Ref Sequence

ENSEMBL: ENSMUSP00000055253 (fasta)

Gene Model

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

AlphaFold

Q5PRE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000058577
AA Change: V802A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055253
Gene: ENSMUSG00000049504
AA Change: V802A

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

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akp3	T	A	1: 87,054,091 (GRCm39)	Y236*	probably null	Het
Ankrd13c	C	T	3: 157,653,564 (GRCm39)	T134M	probably damaging	Het
Arhgef18	T	C	8: 3,498,553 (GRCm39)	S529P	probably damaging	Het
Cdkl2	T	A	5: 92,185,103 (GRCm39)	N96I	possibly damaging	Het
Cep57	A	T	9: 13,730,149 (GRCm39)		probably benign	Het
Chchd7	T	C	4: 3,942,796 (GRCm39)	Y44H	probably damaging	Het
Ciart	T	C	3: 95,786,314 (GRCm39)	I254V	possibly damaging	Het
Cyp2a12	T	C	7: 26,731,967 (GRCm39)	I236T	probably benign	Het
Dlgap5	A	G	14: 47,650,433 (GRCm39)		probably null	Het
Ednra	T	A	8: 78,446,683 (GRCm39)	I132F	probably damaging	Het
En2	T	C	5: 28,371,524 (GRCm39)		probably benign	Het
Fcgbpl1	A	G	7: 27,846,613 (GRCm39)	R1102G	probably damaging	Het
Fsip2	C	A	2: 82,822,701 (GRCm39)	Q6145K	probably benign	Het
Galnt5	A	T	2: 57,889,780 (GRCm39)	D460V	probably damaging	Het
Gm6401	C	T	14: 41,788,851 (GRCm39)	E73K	possibly damaging	Het
Gpr84	T	C	15: 103,217,316 (GRCm39)	I254V	probably benign	Het
Hacd3	A	T	9: 64,897,718 (GRCm39)	I298N	probably damaging	Het
Hyal6	T	A	6: 24,743,438 (GRCm39)	V378E	probably damaging	Het
Il20rb	G	T	9: 100,348,305 (GRCm39)	H210N	probably benign	Het
Iqgap2	A	G	13: 95,798,243 (GRCm39)		probably benign	Het
Itga1	C	T	13: 115,185,832 (GRCm39)	E57K	possibly damaging	Het
Jmjd1c	T	A	10: 67,055,433 (GRCm39)	D571E	probably damaging	Het
Kmt2c	T	C	5: 25,495,821 (GRCm39)	S623G	probably damaging	Het
L3mbtl2	T	A	15: 81,570,456 (GRCm39)	S645T	possibly damaging	Het
Lrp2	A	G	2: 69,285,854 (GRCm39)	V3779A	possibly damaging	Het
Lrpprc	T	C	17: 85,078,878 (GRCm39)	R279G	probably benign	Het
Lurap1l	A	G	4: 80,871,872 (GRCm39)	K122E	probably damaging	Het
Met	T	C	6: 17,535,928 (GRCm39)	Y785H	possibly damaging	Het
Myh3	T	C	11: 66,981,891 (GRCm39)	F796L	probably benign	Het
Myo16	T	C	8: 10,450,595 (GRCm39)		probably benign	Het
Nedd4l	T	C	18: 65,294,723 (GRCm39)		probably null	Het
Nlrp4c	T	C	7: 6,068,974 (GRCm39)	C292R	probably damaging	Het
Nmnat1	A	G	4: 149,557,745 (GRCm39)	L99P	probably damaging	Het
Or1j12	A	T	2: 36,343,051 (GRCm39)	L151F	probably benign	Het
Or5p64	A	G	7: 107,854,623 (GRCm39)	F241L	possibly damaging	Het
Pclo	T	C	5: 14,719,235 (GRCm39)	V1124A	unknown	Het
Phf20l1	A	G	15: 66,466,733 (GRCm39)	Y54C	probably damaging	Het
Postn	T	C	3: 54,285,029 (GRCm39)		probably null	Het
Ppp2r1b	A	G	9: 50,794,885 (GRCm39)	D570G	probably damaging	Het
Prdm2	A	C	4: 142,858,542 (GRCm39)	S1583A	probably benign	Het
Ptprc	A	T	1: 138,027,251 (GRCm39)	N532K	probably damaging	Het
Ptprk	A	G	10: 28,351,172 (GRCm39)	H555R	possibly damaging	Het
Ranbp6	T	C	19: 29,789,524 (GRCm39)	D276G	possibly damaging	Het
Rasgrf2	A	G	13: 92,131,752 (GRCm39)	V635A	probably damaging	Het
Rbm5	T	C	9: 107,621,542 (GRCm39)	Y620C	probably damaging	Het
Sall1	C	T	8: 89,757,749 (GRCm39)	R785H	probably damaging	Het
Slc22a2	G	T	17: 12,828,948 (GRCm39)	L351F	probably damaging	Het
Sorcs3	A	T	19: 48,748,377 (GRCm39)	Q782L	probably benign	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tas2r107	T	A	6: 131,636,369 (GRCm39)	M227L	probably damaging	Het
Tecpr2	C	T	12: 110,934,183 (GRCm39)	T1281I	probably benign	Het
Topbp1	T	A	9: 103,205,639 (GRCm39)	V759E	probably benign	Het
Trim2	T	C	3: 84,085,483 (GRCm39)	T504A	probably benign	Het
Trpc1	A	G	9: 95,590,906 (GRCm39)		probably benign	Het
Tssk4	T	A	14: 55,889,023 (GRCm39)	V183E	probably damaging	Het
Vmn1r202	T	C	13: 22,686,364 (GRCm39)	T18A	probably benign	Het
Vmn1r225	T	C	17: 20,722,567 (GRCm39)	S3P	possibly damaging	Het
Vmn2r101	T	A	17: 19,831,666 (GRCm39)	V554E	probably damaging	Het
Vps13a	T	C	19: 16,641,250 (GRCm39)	I2291V	probably damaging	Het
Vps39	A	G	2: 120,169,968 (GRCm39)	S195P	possibly damaging	Het
Zfand4	T	A	6: 116,250,837 (GRCm39)		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
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
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

Posted On

2015-12-18