Mutagenetix > Incidental Mutation

Incidental Mutation 'R1656:Proser2'

189068

Institutional Source

Beutler Lab

Gene Symbol

Proser2

Ensembl Gene

ENSMUSG00000045319

Gene Name

proline and serine rich 2

Synonyms

5430407P10Rik

MMRRC Submission

039692-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R1656 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6103304-6135100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6107870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 49 (E49K)

Ref Sequence

ENSEMBL: ENSMUSP00000110592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054254] [ENSMUST00000114942] [ENSMUST00000126551]

AlphaFold

Q8C5R2

Predicted Effect

probably damaging
Transcript: ENSMUST00000054254
AA Change: E49K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060780
Gene: ENSMUSG00000045319
AA Change: E49K

Domain	Start	End	E-Value	Type
low complexity region	26	43	N/A	INTRINSIC
Pfam:SARG	44	469	1.6e-120	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114942
AA Change: E49K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110592
Gene: ENSMUSG00000045319
AA Change: E49K

Domain	Start	End	E-Value	Type
low complexity region	26	43	N/A	INTRINSIC
low complexity region	90	105	N/A	INTRINSIC
low complexity region	162	179	N/A	INTRINSIC
Pfam:SARG	425	469	1.3e-12	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126551
AA Change: E49K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115240
Gene: ENSMUSG00000045319
AA Change: E49K

Domain	Start	End	E-Value	Type
low complexity region	26	43	N/A	INTRINSIC
Pfam:SARG	44	187	3.3e-38	PFAM

Meta Mutation Damage Score

0.2035

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.3%

Validation Efficiency

96% (79/82)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	A	T	14: 32,099,901 (GRCm39)	I42N	possibly damaging	Het
Adarb2	T	A	13: 8,253,287 (GRCm39)	S11T	unknown	Het
Adgrg1	C	T	8: 95,738,438 (GRCm39)	Q644*	probably null	Het
Akr1c18	T	G	13: 4,195,252 (GRCm39)	I69L	probably benign	Het
Anxa9	C	T	3: 95,207,884 (GRCm39)	V219I	probably benign	Het
Aqp9	T	C	9: 71,045,385 (GRCm39)	T101A	probably benign	Het
Arhgef1	C	T	7: 24,613,057 (GRCm39)	R251W	probably damaging	Het
Arl13b	T	A	16: 62,627,007 (GRCm39)	E231D	possibly damaging	Het
Atosa	C	T	9: 74,916,241 (GRCm39)	A280V	probably benign	Het
Bcl2l11	C	T	2: 128,000,176 (GRCm39)	A173V	probably benign	Het
Ccni	A	T	5: 93,335,933 (GRCm39)		probably null	Het
Cdh18	A	G	15: 23,474,485 (GRCm39)	E785G	probably benign	Het
Cdk4	A	G	10: 126,900,849 (GRCm39)	Y167C	probably benign	Het
Clip1	A	C	5: 123,768,466 (GRCm39)	V757G	possibly damaging	Het
Ctsc	T	C	7: 87,930,616 (GRCm39)	V65A	possibly damaging	Het
Cuedc2	G	A	19: 46,320,427 (GRCm39)	S48L	probably damaging	Het
Cyp39a1	T	A	17: 43,978,510 (GRCm39)	M4K	possibly damaging	Het
Dgcr8	T	C	16: 18,074,577 (GRCm39)	S733G	probably benign	Het
Dnhd1	T	C	7: 105,363,488 (GRCm39)	S4017P	probably damaging	Het
Ehbp1	A	G	11: 22,096,694 (GRCm39)	I255T	probably benign	Het
Fam83e	T	C	7: 45,371,687 (GRCm39)	V28A	probably benign	Het
Fanci	A	G	7: 79,054,936 (GRCm39)		probably benign	Het
Fat1	C	T	8: 45,478,567 (GRCm39)	Q2538*	probably null	Het
Fshr	A	G	17: 89,508,009 (GRCm39)	F11S	unknown	Het
Gab1	G	T	8: 81,515,388 (GRCm39)	P310Q	probably damaging	Het
Galnt18	A	G	7: 111,215,699 (GRCm39)		probably benign	Het
Gm28042	C	A	2: 119,869,370 (GRCm39)	P355Q	probably damaging	Het
H2-DMa	A	G	17: 34,357,116 (GRCm39)	T205A	possibly damaging	Het
Hnf4g	A	T	3: 3,718,011 (GRCm39)	D420V	probably benign	Het
Ift70b	T	C	2: 75,767,760 (GRCm39)	K331R	probably benign	Het
Il1b	A	G	2: 129,207,989 (GRCm39)	V164A	probably damaging	Het
Irf4	C	A	13: 30,941,485 (GRCm39)	H279Q	probably benign	Het
Loxhd1	A	G	18: 77,409,364 (GRCm39)	T203A	possibly damaging	Het
Lsamp	C	T	16: 41,775,682 (GRCm39)	P178S	probably damaging	Het
Mcm6	T	C	1: 128,277,155 (GRCm39)	S223G	possibly damaging	Het
Misp	G	T	10: 79,661,777 (GRCm39)	V65L	possibly damaging	Het
Mov10	A	G	3: 104,706,912 (GRCm39)	V666A	probably benign	Het
Mycbp2	A	T	14: 103,485,194 (GRCm39)	D1102E	probably damaging	Het
Myef2	G	T	2: 124,939,860 (GRCm39)		probably null	Het
Myo1e	T	A	9: 70,303,216 (GRCm39)	I1079N	probably damaging	Het
Nisch	G	T	14: 30,899,228 (GRCm39)		probably benign	Het
Obox7	T	C	7: 14,399,346 (GRCm39)	S191P	probably benign	Het
Or11h7	T	C	14: 50,891,465 (GRCm39)	V257A	probably benign	Het
Or13p10	A	G	4: 118,523,385 (GRCm39)	I224V	probably damaging	Het
Or14c40	C	T	7: 86,313,331 (GRCm39)	L154F	probably benign	Het
Or1j11	G	A	2: 36,311,658 (GRCm39)	V83M	probably benign	Het
Or5w14	A	T	2: 87,541,422 (GRCm39)	V276D	possibly damaging	Het
Or7d9	A	G	9: 20,197,873 (GRCm39)	R301G	probably damaging	Het
Phf1	T	C	17: 27,156,333 (GRCm39)	S492P	possibly damaging	Het
Phyh	A	T	2: 4,943,164 (GRCm39)	N337I	probably damaging	Het
Poteg	A	T	8: 27,985,060 (GRCm39)		probably benign	Het
Prag1	G	T	8: 36,571,500 (GRCm39)	K694N	probably damaging	Het
Pskh1	T	C	8: 106,656,389 (GRCm39)	V355A	possibly damaging	Het
Psmc2	T	C	5: 22,004,549 (GRCm39)	V182A	possibly damaging	Het
Rbfox1	A	G	16: 7,124,333 (GRCm39)		probably benign	Het
Slc26a7	A	T	4: 14,621,221 (GRCm39)	I55K	possibly damaging	Het
Slc5a8	G	A	10: 88,761,648 (GRCm39)		probably null	Het
Slitrk3	T	C	3: 72,957,672 (GRCm39)	R367G	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spata31	A	G	13: 65,068,953 (GRCm39)	E367G	probably benign	Het
Srrm3	A	T	5: 135,863,892 (GRCm39)		probably null	Het
Ssmem1	T	C	6: 30,517,507 (GRCm39)	S6P	probably damaging	Het
Swap70	A	G	7: 109,821,034 (GRCm39)	D6G	probably benign	Het
Syt1	T	C	10: 108,419,776 (GRCm39)	E295G	probably damaging	Het
Tap2	A	T	17: 34,424,927 (GRCm39)	I192F	possibly damaging	Het
Tgoln1	C	T	6: 72,591,068 (GRCm39)	R348H	probably damaging	Het
Tln2	C	T	9: 67,134,389 (GRCm39)	V1373I	possibly damaging	Het
Tmc2	A	G	2: 130,089,854 (GRCm39)	D613G	possibly damaging	Het
Tmem62	T	A	2: 120,837,483 (GRCm39)	Y597N	probably benign	Het
Trhr2	T	A	8: 123,084,185 (GRCm39)	T272S	probably damaging	Het
Vmn2r92	T	C	17: 18,372,198 (GRCm39)	S3P	probably benign	Het
Wdfy3	A	T	5: 102,089,313 (GRCm39)	I627N	probably damaging	Het
Zfhx4	T	C	3: 5,478,076 (GRCm39)	S3564P	probably damaging	Het
Zfp467	T	G	6: 48,416,013 (GRCm39)	E213A	possibly damaging	Het
Zfp746	T	G	6: 48,041,411 (GRCm39)	K437N	probably damaging	Het
Zfp853	A	G	5: 143,274,840 (GRCm39)		probably benign	Het
Zranb1	T	A	7: 132,551,496 (GRCm39)	V49D	probably benign	Het

Other mutations in Proser2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Proser2	APN	2	6,105,149 (GRCm39)	makesense	probably null
R0482:Proser2	UTSW	2	6,118,721 (GRCm39)	missense	probably damaging	0.99
R2164:Proser2	UTSW	2	6,105,506 (GRCm39)	missense	possibly damaging	0.95
R6981:Proser2	UTSW	2	6,118,801 (GRCm39)	missense	probably damaging	1.00
R7779:Proser2	UTSW	2	6,107,878 (GRCm39)	critical splice acceptor site	probably null
R9232:Proser2	UTSW	2	6,106,015 (GRCm39)	missense	probably benign	0.00
R9590:Proser2	UTSW	2	6,105,794 (GRCm39)	missense	probably benign
R9741:Proser2	UTSW	2	6,105,580 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATGACATCTTCGGGCTCAGAGTGG -3'
(R):5'- TCCCTTGATAGTGTGGAGACAGTGG -3'

Sequencing Primer
(F):5'- GCTCAGAGTGGCTGGAAG -3'
(R):5'- TAGTACTTGCAACCACATGCTAGAG -3'

Posted On

2014-05-09