Mutagenetix > Incidental Mutation

Incidental Mutation 'R3121:Proser3'

263227

Institutional Source

Beutler Lab

Gene Symbol

Proser3

Ensembl Gene

ENSMUSG00000036864

Gene Name

proline and serine rich 3

Synonyms

BC053749

MMRRC Submission

040594-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R3121 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30238559-30251724 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30239796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 436 (V436A)

Ref Sequence

ENSEMBL: ENSMUSP00000103800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062708] [ENSMUST00000108165] [ENSMUST00000215288]

AlphaFold

Q7TSA6

Predicted Effect

probably benign
Transcript: ENSMUST00000062708
AA Change: V436A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000059135
Gene: ENSMUSG00000036864
AA Change: V436A

Domain	Start	End	E-Value	Type
low complexity region	33	56	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
low complexity region	152	163	N/A	INTRINSIC
low complexity region	179	202	N/A	INTRINSIC
low complexity region	351	365	N/A	INTRINSIC
low complexity region	369	383	N/A	INTRINSIC
low complexity region	388	407	N/A	INTRINSIC
low complexity region	599	614	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108165
AA Change: V436A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103800
Gene: ENSMUSG00000036864
AA Change: V436A

Domain	Start	End	E-Value	Type
low complexity region	33	56	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
low complexity region	152	163	N/A	INTRINSIC
low complexity region	179	202	N/A	INTRINSIC
low complexity region	351	365	N/A	INTRINSIC
low complexity region	369	383	N/A	INTRINSIC
low complexity region	388	407	N/A	INTRINSIC
low complexity region	599	614	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208842

Predicted Effect

probably benign
Transcript: ENSMUST00000215288
AA Change: V436A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,966,091 (GRCm39)	M423K	probably benign	Het
Adamtsl1	T	A	4: 86,255,246 (GRCm39)	W780R	probably damaging	Het
Ago3	A	G	4: 126,311,165 (GRCm39)	I16T	probably benign	Het
Amph	T	A	13: 19,297,316 (GRCm39)	L354*	probably null	Het
Ankk1	G	A	9: 49,338,267 (GRCm39)	L9F	probably benign	Het
Brdt	A	G	5: 107,525,011 (GRCm39)	T851A	probably damaging	Het
Bzw2	A	C	12: 36,170,788 (GRCm39)		probably null	Het
Capn7	A	T	14: 31,081,167 (GRCm39)	I395F	probably damaging	Het
Ccdc146	T	C	5: 21,499,591 (GRCm39)	R864G	possibly damaging	Het
Ccdc50	G	T	16: 27,228,139 (GRCm39)	R102L	possibly damaging	Het
Cep83	T	C	10: 94,622,700 (GRCm39)	V592A	probably damaging	Het
Cgn	G	A	3: 94,685,792 (GRCm39)		probably benign	Het
Cidec	C	A	6: 113,405,086 (GRCm39)	V195L	probably benign	Het
Cntln	A	G	4: 84,923,289 (GRCm39)		probably benign	Het
Cntrob	A	T	11: 69,213,526 (GRCm39)	L88*	probably null	Het
Dnah17	C	T	11: 117,931,912 (GRCm39)	V3687M	probably damaging	Het
Dst	T	C	1: 34,328,729 (GRCm39)	I4599T	probably damaging	Het
Dtl	A	T	1: 191,285,175 (GRCm39)	Y320*	probably null	Het
Fam98b	A	G	2: 117,098,408 (GRCm39)	T293A	probably damaging	Het
Farp1	G	A	14: 121,460,138 (GRCm39)		probably benign	Het
Fat2	G	T	11: 55,202,622 (GRCm39)	P151T	probably damaging	Het
Fbxl17	A	T	17: 63,778,419 (GRCm39)	M497K	probably damaging	Het
Foxn4	T	C	5: 114,396,776 (GRCm39)	T236A	probably damaging	Het
Gm525	C	T	11: 88,979,374 (GRCm39)		probably benign	Het
Golga4	C	A	9: 118,386,448 (GRCm39)	T1190K	possibly damaging	Het
H2-T23	T	A	17: 36,341,855 (GRCm39)	M248L	probably benign	Het
Homez	T	C	14: 55,094,778 (GRCm39)	E310G	probably benign	Het
Hydin	A	G	8: 111,233,138 (GRCm39)	I1746V	probably benign	Het
Igkv1-35	T	A	6: 69,988,641 (GRCm39)	H6L	probably benign	Het
Kcnt2	T	C	1: 140,356,622 (GRCm39)	S354P	probably damaging	Het
Khdc4	A	G	3: 88,596,599 (GRCm39)	T127A	probably damaging	Het
Klra4	G	T	6: 130,040,141 (GRCm39)	Q44K	probably benign	Het
L3mbtl3	A	G	10: 26,220,119 (GRCm39)		probably benign	Het
Lamb1	C	T	12: 31,337,528 (GRCm39)	R372C	probably damaging	Het
Magea14	A	T	X: 51,057,968 (GRCm39)	Y239*	probably null	Het
Map3k9	A	G	12: 81,790,698 (GRCm39)	I285T	probably damaging	Het
Or4a47	T	A	2: 89,665,858 (GRCm39)	I144L	probably benign	Het
Or6c6	A	G	10: 129,186,552 (GRCm39)	N40S	possibly damaging	Het
Pcdhb16	A	T	18: 37,611,271 (GRCm39)	Q77L	possibly damaging	Het
Pramel20	T	A	4: 143,297,583 (GRCm39)	M1K	probably null	Het
Relch	A	G	1: 105,653,524 (GRCm39)	N834S	probably benign	Het
Resf1	T	A	6: 149,230,741 (GRCm39)	C1262*	probably null	Het
Sec24b	C	T	3: 129,795,953 (GRCm39)		probably null	Het
Slc2a2	A	G	3: 28,775,898 (GRCm39)	Q336R	probably benign	Het
Sowahb	T	C	5: 93,191,261 (GRCm39)	D486G	possibly damaging	Het
Spidr	T	C	16: 15,958,724 (GRCm39)	K13E	probably damaging	Het
Tiam2	T	A	17: 3,489,977 (GRCm39)	M786K	probably benign	Het
Tktl2	T	A	8: 66,964,808 (GRCm39)	V122E	probably damaging	Het
Wapl	A	G	14: 34,451,172 (GRCm39)	I729M	possibly damaging	Het
Zbbx	T	C	3: 74,989,153 (GRCm39)	T317A	possibly damaging	Het
Zfp976	A	G	7: 42,262,938 (GRCm39)	C300R	probably damaging	Het

Other mutations in Proser3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00533:Proser3	APN	7	30,240,096 (GRCm39)	missense	possibly damaging	0.62
IGL01346:Proser3	APN	7	30,249,071 (GRCm39)	missense	probably benign	0.21
IGL02465:Proser3	APN	7	30,242,958 (GRCm39)	missense	possibly damaging	0.87
IGL03178:Proser3	APN	7	30,243,034 (GRCm39)	missense	probably damaging	0.99
IGL03372:Proser3	APN	7	30,242,993 (GRCm39)	missense	probably damaging	1.00
K3955:Proser3	UTSW	7	30,242,924 (GRCm39)	missense	probably damaging	0.96
R0008:Proser3	UTSW	7	30,239,563 (GRCm39)	missense	probably damaging	0.99
R0008:Proser3	UTSW	7	30,239,563 (GRCm39)	missense	probably damaging	0.99
R0255:Proser3	UTSW	7	30,245,842 (GRCm39)	missense	probably damaging	1.00
R0627:Proser3	UTSW	7	30,240,208 (GRCm39)	missense	probably benign	0.04
R0702:Proser3	UTSW	7	30,238,955 (GRCm39)	missense	probably benign	0.00
R0883:Proser3	UTSW	7	30,240,124 (GRCm39)	missense	probably damaging	0.99
R1185:Proser3	UTSW	7	30,245,572 (GRCm39)	missense	probably benign	0.01
R1457:Proser3	UTSW	7	30,239,172 (GRCm39)	critical splice donor site	probably null
R1650:Proser3	UTSW	7	30,239,751 (GRCm39)	missense	probably damaging	0.99
R1697:Proser3	UTSW	7	30,239,446 (GRCm39)	missense	probably benign	0.00
R4210:Proser3	UTSW	7	30,245,525 (GRCm39)	intron	probably benign
R4375:Proser3	UTSW	7	30,240,096 (GRCm39)	missense	possibly damaging	0.62
R5364:Proser3	UTSW	7	30,245,573 (GRCm39)	missense	possibly damaging	0.60
R6225:Proser3	UTSW	7	30,243,153 (GRCm39)	missense	probably damaging	1.00
R6831:Proser3	UTSW	7	30,239,781 (GRCm39)	missense	probably benign
R7151:Proser3	UTSW	7	30,239,749 (GRCm39)	missense	possibly damaging	0.79
R7707:Proser3	UTSW	7	30,239,216 (GRCm39)	missense	probably benign	0.27
R7748:Proser3	UTSW	7	30,239,497 (GRCm39)	missense	possibly damaging	0.90
R7923:Proser3	UTSW	7	30,249,086 (GRCm39)	missense	possibly damaging	0.79
R8975:Proser3	UTSW	7	30,239,458 (GRCm39)	missense	possibly damaging	0.95
R9366:Proser3	UTSW	7	30,248,478 (GRCm39)	missense	probably damaging	0.96
R9502:Proser3	UTSW	7	30,245,587 (GRCm39)	missense	possibly damaging	0.55
R9673:Proser3	UTSW	7	30,248,530 (GRCm39)	missense	probably damaging	0.99
X0028:Proser3	UTSW	7	30,240,187 (GRCm39)	missense	probably damaging	0.99
Z31818:Proser3	UTSW	7	30,245,790 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- AAGGGATGGCCTGGACTTTC -3'
(R):5'- GGATGCTTCCTACCACACTG -3'

Sequencing Primer
(F):5'- GGACTTTCCGGAAATCTGCC -3'
(R):5'- GATGCTTCCTACCACACTGCTAAC -3'

Posted On

2015-02-05