Mutagenetix > Incidental Mutation

Incidental Mutation 'R0622:Proser1'

58717

Institutional Source

Beutler Lab

Gene Symbol

Proser1

Ensembl Gene

ENSMUSG00000049504

Gene Name

proline and serine rich 1

Synonyms

2810046L04Rik

MMRRC Submission

038811-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0622 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

53371216-53389176 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53385281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 388 (S388G)

Ref Sequence

ENSEMBL: ENSMUSP00000055253 (fasta)

Gene Model

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

AlphaFold

Q5PRE5

Predicted Effect

probably benign
Transcript: ENSMUST00000058577
AA Change: S388G

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000055253
Gene: ENSMUSG00000049504
AA Change: S388G

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: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

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
Agtr1a	T	A	13: 30,565,664 (GRCm39)	M243K	probably benign	Het
Ap1b1	A	G	11: 4,987,707 (GRCm39)	M744V	probably damaging	Het
Ccdc152	T	C	15: 3,327,660 (GRCm39)	N39S	probably damaging	Het
Cd163	G	A	6: 124,294,311 (GRCm39)	V490M	probably damaging	Het
Col6a5	G	T	9: 105,803,051 (GRCm39)	H1305N	unknown	Het
Cpb1	C	A	3: 20,303,982 (GRCm39)	D361Y	probably damaging	Het
Dchs1	T	A	7: 105,412,656 (GRCm39)	Y1248F	probably damaging	Het
Dhdds	G	C	4: 133,721,547 (GRCm39)	F83L	probably damaging	Het
Dsg4	T	A	18: 20,582,845 (GRCm39)	V161E	possibly damaging	Het
Exosc4	A	G	15: 76,211,736 (GRCm39)	D15G	probably damaging	Het
F3	A	T	3: 121,518,668 (GRCm39)	D44V	probably damaging	Het
Fat2	A	T	11: 55,173,954 (GRCm39)	F2253Y	probably damaging	Het
Fbn1	T	C	2: 125,220,944 (GRCm39)	D650G	possibly damaging	Het
Gramd4	T	A	15: 85,975,590 (GRCm39)	F36I	probably damaging	Het
Grm7	G	A	6: 111,335,457 (GRCm39)	A623T	probably damaging	Het
Gys1	A	T	7: 45,089,419 (GRCm39)	T193S	probably damaging	Het
Hectd4	A	G	5: 121,486,688 (GRCm39)	T3228A	possibly damaging	Het
Itpk1	G	T	12: 102,540,239 (GRCm39)	D281E	probably damaging	Het
Kcnh7	A	C	2: 62,667,633 (GRCm39)		probably null	Het
Klhl29	A	G	12: 5,131,224 (GRCm39)	L852P	probably damaging	Het
Lrch1	T	C	14: 75,033,491 (GRCm39)	Y509C	probably benign	Het
Lrp1b	A	G	2: 41,618,563 (GRCm39)		probably null	Het
Mcpt4	C	A	14: 56,298,119 (GRCm39)	R144L	probably benign	Het
Mia2	C	T	12: 59,178,364 (GRCm39)	R12W	probably damaging	Het
Mrps5	A	G	2: 127,436,451 (GRCm39)	K116R	probably benign	Het
Myrf	G	A	19: 10,200,816 (GRCm39)	P286S	probably damaging	Het
Nanp	A	G	2: 150,881,164 (GRCm39)	M28T	probably benign	Het
Neb	T	C	2: 52,102,963 (GRCm39)	I4472V	probably benign	Het
Nfix	A	C	8: 85,453,111 (GRCm39)	N314K	probably damaging	Het
Nlrc3	C	T	16: 3,771,832 (GRCm39)	R849Q	probably benign	Het
Nup210l	G	A	3: 90,075,047 (GRCm39)	V786M	probably damaging	Het
Or2t44	T	C	11: 58,677,167 (GRCm39)	S36P	probably damaging	Het
Or52ad1	A	G	7: 102,996,064 (GRCm39)	S24P	probably damaging	Het
Or6z5	T	C	7: 6,477,598 (GRCm39)	I163T	possibly damaging	Het
Or8c20	A	G	9: 38,260,667 (GRCm39)	N96S	possibly damaging	Het
Pdia4	A	T	6: 47,783,452 (GRCm39)	F197Y	probably damaging	Het
Phldb1	T	C	9: 44,627,149 (GRCm39)	D432G	probably damaging	Het
Pik3ca	A	G	3: 32,490,701 (GRCm39)	E116G	probably damaging	Het
Polq	T	C	16: 36,881,355 (GRCm39)	V1173A	probably benign	Het
Pou2f3	C	T	9: 43,036,414 (GRCm39)	R423H	probably damaging	Het
Pramel29	T	C	4: 143,939,583 (GRCm39)		probably benign	Het
Prkag2	T	C	5: 25,074,247 (GRCm39)	N246S	probably damaging	Het
Ralgps1	G	A	2: 33,064,459 (GRCm39)	R238*	probably null	Het
Rfx2	T	C	17: 57,084,071 (GRCm39)	D657G	probably damaging	Het
Ryr3	A	G	2: 112,492,900 (GRCm39)	F3724S	probably damaging	Het
Sh2d5	T	C	4: 137,986,539 (GRCm39)	S421P	probably damaging	Het
Slc34a1	C	A	13: 23,996,594 (GRCm39)	T33K	probably damaging	Het
St8sia5	A	G	18: 77,333,809 (GRCm39)	T156A	probably damaging	Het
Stk32c	T	C	7: 138,768,026 (GRCm39)	D85G	probably benign	Het
Tnks	A	G	8: 35,407,976 (GRCm39)	S251P	probably damaging	Het
Tnxb	T	A	17: 34,937,703 (GRCm39)	L3864Q	probably damaging	Het
Trim9	A	G	12: 70,393,378 (GRCm39)	Y189H	probably damaging	Het
Vmn1r77	T	G	7: 11,775,315 (GRCm39)	F30L	probably benign	Het
Wasf3	A	G	5: 146,403,602 (GRCm39)		probably null	Het
Wdr90	C	T	17: 26,074,632 (GRCm39)	C603Y	probably damaging	Het
Zdhhc25	T	C	15: 88,485,310 (GRCm39)	L215P	probably damaging	Het
Zeb1	C	T	18: 5,759,123 (GRCm39)	Q140*	probably null	Het
Zfp677	C	T	17: 21,617,962 (GRCm39)	L340F	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
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'- TGGAATGAGTGCGACCAACACTG -3'
(R):5'- CGCAGCACTGGCAATTACAGAAGG -3'

Sequencing Primer
(F):5'- GTGTTCCCAACGCCTCAG -3'
(R):5'- CTGGCAATTACAGAAGGAGTCG -3'

Posted On

2013-07-11