Mutagenetix > Incidental Mutation

Incidental Mutation 'R6743:Arc'

532752

Institutional Source

Beutler Lab

Gene Symbol

Arc

Ensembl Gene

ENSMUSG00000022602

Gene Name

activity regulated cytoskeletal-associated protein

Synonyms

arg 3.1, Arc3.1

MMRRC Submission

044860-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6743 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74540932-74544419 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74543636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 196 (S196P)

Ref Sequence

ENSEMBL: ENSMUSP00000105636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023268] [ENSMUST00000110009]

AlphaFold

Q9WV31

Predicted Effect

probably benign
Transcript: ENSMUST00000023268
AA Change: S196P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000110009
AA Change: S196P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (39/39)

MGI Phenotype

PHENOTYPE: Homozygous deletion of this gene results in embryonic lethality around E6.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	C	T	17: 31,327,321 (GRCm39)	R339C	possibly damaging	Het
Adamts6	G	A	13: 104,565,436 (GRCm39)	G721R	probably damaging	Het
Adnp2	A	G	18: 80,171,274 (GRCm39)	V1045A	probably benign	Het
Agbl3	T	C	6: 34,823,888 (GRCm39)	I856T	probably benign	Het
Anapc1	T	A	2: 128,526,454 (GRCm39)	K115*	probably null	Het
Atp10a	T	C	7: 58,447,562 (GRCm39)	I768T	possibly damaging	Het
Blk	C	T	14: 63,622,375 (GRCm39)	R55H	probably benign	Het
Ccdc158	T	C	5: 92,810,005 (GRCm39)	S168G	probably benign	Het
Cda	G	T	4: 138,066,253 (GRCm39)	T128K	probably benign	Het
Celsr1	T	A	15: 85,791,799 (GRCm39)	T2601S	probably damaging	Het
Dmxl1	T	C	18: 50,013,847 (GRCm39)	V1545A	possibly damaging	Het
Dst	T	A	1: 34,309,971 (GRCm39)	N6264K	probably damaging	Het
Ednra	T	C	8: 78,401,718 (GRCm39)	S191G	probably damaging	Het
Elk3	A	T	10: 93,100,912 (GRCm39)	S280T	possibly damaging	Het
Etnk1	A	G	6: 143,126,343 (GRCm39)	I63V	possibly damaging	Het
Fscb	A	G	12: 64,518,347 (GRCm39)	S1040P	unknown	Het
Gm14295	T	G	2: 176,502,420 (GRCm39)	C637G	probably damaging	Het
Gm5114	T	C	7: 39,057,997 (GRCm39)	T541A	probably benign	Het
Man2c1	T	C	9: 57,042,849 (GRCm39)	F240L	probably benign	Het
Map2	A	T	1: 66,454,766 (GRCm39)	I1219L	probably benign	Het
Map3k13	A	G	16: 21,711,173 (GRCm39)	Y152C	probably damaging	Het
Morc1	G	A	16: 48,322,683 (GRCm39)	A327T	probably damaging	Het
Myo3a	A	T	2: 22,366,475 (GRCm39)	Y553F	probably benign	Het
Myo9b	T	A	8: 71,804,803 (GRCm39)		probably null	Het
Or14j1	A	C	17: 38,146,694 (GRCm39)	D268A	probably damaging	Het
Or5b3	C	T	19: 13,387,957 (GRCm39)	T8I	probably damaging	Het
Pam	A	G	1: 97,823,774 (GRCm39)	V219A	probably benign	Het
Panx1	A	G	9: 14,918,929 (GRCm39)	I310T	possibly damaging	Het
Pde6a	T	A	18: 61,397,057 (GRCm39)	F634L	possibly damaging	Het
Pkd1l2	C	A	8: 117,757,370 (GRCm39)	C1556F	probably damaging	Het
Prdm5	G	A	6: 65,860,635 (GRCm39)	V440I	probably damaging	Het
Rasa2	T	C	9: 96,493,493 (GRCm39)	T64A	probably damaging	Het
Sec24b	A	T	3: 129,834,881 (GRCm39)	Y106N	probably damaging	Het
Sfswap	C	T	5: 129,627,883 (GRCm39)	Q689*	probably null	Het
Slamf8	C	T	1: 172,417,965 (GRCm39)		probably null	Het
Tektl1	G	A	10: 78,588,726 (GRCm39)	T28M	probably benign	Het
Tmt1a3	A	G	15: 100,233,123 (GRCm39)	K105E	probably benign	Het
Tsr1	T	C	11: 74,799,177 (GRCm39)	V786A	probably benign	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zmynd10	T	C	9: 107,425,079 (GRCm39)	I58T	possibly damaging	Het

Other mutations in Arc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01778:Arc	APN	15	74,544,204 (GRCm39)	missense	probably benign
IGL02372:Arc	APN	15	74,543,954 (GRCm39)	missense	probably damaging	1.00
IGL03209:Arc	APN	15	74,543,833 (GRCm39)	missense	probably damaging	1.00
P0040:Arc	UTSW	15	74,543,188 (GRCm39)	missense	probably damaging	1.00
R0732:Arc	UTSW	15	74,543,044 (GRCm39)	missense	probably damaging	1.00
R1377:Arc	UTSW	15	74,544,101 (GRCm39)	missense	possibly damaging	0.51
R2430:Arc	UTSW	15	74,543,740 (GRCm39)	missense	probably benign	0.01
R4647:Arc	UTSW	15	74,543,374 (GRCm39)	missense	probably damaging	1.00
R4855:Arc	UTSW	15	74,543,592 (GRCm39)	missense	probably benign	0.01
R6436:Arc	UTSW	15	74,544,098 (GRCm39)	missense	possibly damaging	0.47
R8678:Arc	UTSW	15	74,543,539 (GRCm39)	missense	probably damaging	1.00
R9041:Arc	UTSW	15	74,543,896 (GRCm39)	missense	probably damaging	1.00
R9070:Arc	UTSW	15	74,543,833 (GRCm39)	missense	probably damaging	1.00
R9184:Arc	UTSW	15	74,543,779 (GRCm39)	missense	probably damaging	1.00
R9428:Arc	UTSW	15	74,543,063 (GRCm39)	missense	probably benign	0.01
RF003:Arc	UTSW	15	74,543,980 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATTGCAGAAACTCCTTCTTGAACTC -3'
(R):5'- AGTCCATGGGCGGCAAATAC -3'

Sequencing Primer
(F):5'- ACCGAGCCCTGCTTGAACTC -3'
(R):5'- GGCGGCAAATACCCAGTG -3'

Posted On

2018-08-29