Mutagenetix > Incidental Mutation

Incidental Mutation 'R8677:Proser1'

661430

Institutional Source

Beutler Lab

Gene Symbol

Proser1

Ensembl Gene

ENSMUSG00000049504

Gene Name

proline and serine rich 1

Synonyms

2810046L04Rik

MMRRC Submission

068532-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8677 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53463666-53481755 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53477701 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 335 (T335A)

Ref Sequence

ENSEMBL: ENSMUSP00000055253 (fasta)

Gene Model

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

AlphaFold

Q5PRE5

Predicted Effect

probably benign
Transcript: ENSMUST00000058577
AA Change: T335A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000055253
Gene: ENSMUSG00000049504
AA Change: T335A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,595,471	D474G	probably benign	Het
1190007I07Rik	G	T	10: 82,620,216	T37K	possibly damaging	Het
2610507B11Rik	C	T	11: 78,284,156	R1706C	probably damaging	Het
Acd	A	C	8: 105,700,944	S25R	probably damaging	Het
Acly	A	T	11: 100,519,743	H136Q	probably damaging	Het
Adrm1	C	T	2: 180,172,039	T2M	probably benign	Het
Ankrd12	A	T	17: 66,024,214	L246M	probably damaging	Het
Cacnb3	T	C	15: 98,642,050	L258P	probably damaging	Het
Ccdc129	A	G	6: 55,872,594	H37R	probably benign	Het
Cd36	C	T	5: 17,820,495	V76M	probably damaging	Het
Cep120	A	G	18: 53,738,561	F80L	possibly damaging	Het
Clcn1	A	T	6: 42,290,585		probably null	Het
Col17a1	T	C	19: 47,651,801	T1042A	probably benign	Het
Comp	A	T	8: 70,380,260	N623Y	probably damaging	Het
Ctnnal1	A	G	4: 56,813,272	L653P	probably benign	Het
Cx3cl1	G	T	8: 94,779,815	R149S	probably benign	Het
Dbndd2	T	A	2: 164,488,602	N58K	probably damaging	Het
Dclk1	A	G	3: 55,502,419	I595V	probably damaging	Het
Dhx15	T	C	5: 52,184,544	D144G	probably benign	Het
Dlat	T	C	9: 50,658,707	E120G	probably damaging	Het
Fam171a1	T	A	2: 3,220,315	Y273N	probably damaging	Het
Fndc3b	A	T	3: 27,457,027	V778D	probably benign	Het
Grn	T	C	11: 102,433,567	S129P	possibly damaging	Het
Grxcr1	T	C	5: 68,110,414	F169L	possibly damaging	Het
Hcn2	A	G	10: 79,724,785	I317V	probably benign	Het
Heca	T	C	10: 17,915,676	N211D	probably benign	Het
Htr1f	T	C	16: 64,926,051	T293A	possibly damaging	Het
Ifitm10	T	A	7: 142,356,012	I116F	probably benign	Het
Ivl	A	T	3: 92,572,679	D26E	probably benign	Het
Kcnma1	T	A	14: 23,386,350	E761V	probably benign	Het
Ltbp1	G	T	17: 75,348,758	V923F	probably benign	Het
Mfsd4b2	A	T	10: 39,923,809	F32L	probably benign	Het
Micu2	T	C	14: 57,923,963	R301G	possibly damaging	Het
Miip	C	T	4: 147,863,046	C219Y	probably damaging	Het
Mn1	T	A	5: 111,419,019	L285*	probably null	Het
Mthfd1l	T	A	10: 4,048,250	N664K	possibly damaging	Het
Mttp	A	T	3: 138,104,676	H659Q	probably benign	Het
Myadml2	G	A	11: 120,647,989	P7S	probably benign	Het
Nlgn3	T	C	X: 101,308,784	V179A	probably damaging	Het
Nlrp4c	C	T	7: 6,072,645	T645I	probably damaging	Het
Notch1	C	T	2: 26,469,924	V1260I	probably damaging	Het
Numa1	T	C	7: 102,000,941	L1293P	probably damaging	Het
Olfr403	A	T	11: 74,195,589	I29F	probably benign	Het
Olfr684	A	G	7: 105,157,568	L38P	probably benign	Het
Pcdh12	G	T	18: 38,282,138	H645N	probably benign	Het
Pdcd1	A	T	1: 94,041,227	L122H	probably damaging	Het
Pknox2	G	A	9: 36,910,591	P246L	probably damaging	Het
Polr2a	A	T	11: 69,735,555	S1590T	possibly damaging	Het
Ppp1r16b	G	A	2: 158,751,178	D226N	probably damaging	Het
Ptprc	A	G	1: 138,083,597	I598T	probably damaging	Het
Rasal3	T	C	17: 32,396,854	T337A	probably benign	Het
Rasgrp3	A	T	17: 75,512,060	T415S	probably benign	Het
Rbm7	T	A	9: 48,489,973	R152*	probably null	Het
Sf3b2	C	T	19: 5,286,229	R513H	probably damaging	Het
Slc22a30	A	G	19: 8,386,671	S214P	probably benign	Het
Spam1	A	G	6: 24,796,985	T312A	probably benign	Het
Ssh2	A	G	11: 77,455,193	T1335A	possibly damaging	Het
Tef	T	A	15: 81,814,968	L59Q	probably damaging	Het
Tmem131l	A	C	3: 83,928,702	V700G	probably damaging	Het
Twsg1	A	G	17: 65,926,407	S183P	probably damaging	Het
Unc13c	T	C	9: 73,932,961	T203A	probably benign	Het
Vmn2r75	G	T	7: 86,165,202	P361Q	possibly damaging	Het
Xirp2	A	T	2: 67,516,634	N3073I	probably damaging	Het
Zfp114	A	G	7: 24,180,645	N140D	probably benign	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
R0629:Proser1	UTSW	3	53479064	missense	probably benign	0.04
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
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'- AATCCTTCGACACCTGCTG -3'
(R):5'- GATTGGGTTACTGGCTGACC -3'

Sequencing Primer
(F):5'- TGCGACTCCAGTACCTGCTG -3'
(R):5'- CACGTGGAAGCAAATGTCTCACTG -3'

Posted On

2021-03-08