Mutagenetix > Incidental Mutation

Incidental Mutation 'R5467:Arpc5l'

433269

Institutional Source

Beutler Lab

Gene Symbol

Arpc5l

Ensembl Gene

ENSMUSG00000026755

Gene Name

actin related protein 2/3 complex, subunit 5-like

Synonyms

ARC16-2, 2010015J01Rik

MMRRC Submission

043028-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.355) question?

Stock #

R5467 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38895360-38905889 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38903751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 80 (V80A)

Ref Sequence

ENSEMBL: ENSMUSP00000108483 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039165] [ENSMUST00000090993] [ENSMUST00000112850] [ENSMUST00000112862] [ENSMUST00000184996]

AlphaFold

Q9D898

Predicted Effect

probably benign
Transcript: ENSMUST00000039165

SMART Domains

Protein: ENSMUSP00000037735
Gene: ENSMUSG00000026754

Domain	Start	End	E-Value	Type
coiled coil region	51	104	N/A	INTRINSIC
coiled coil region	126	169	N/A	INTRINSIC
coiled coil region	190	555	N/A	INTRINSIC
coiled coil region	599	647	N/A	INTRINSIC
Grip	682	728	5.68e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000090993

SMART Domains

Protein: ENSMUSP00000088516
Gene: ENSMUSG00000026755

Domain	Start	End	E-Value	Type
Pfam:P16-Arc	8	153	4.6e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112850

SMART Domains

Protein: ENSMUSP00000108471
Gene: ENSMUSG00000026754

Domain	Start	End	E-Value	Type
coiled coil region	53	144	N/A	INTRINSIC
coiled coil region	165	530	N/A	INTRINSIC
coiled coil region	574	622	N/A	INTRINSIC
Grip	657	703	5.68e-18	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112862
AA Change: V80A

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108483
Gene: ENSMUSG00000026755
AA Change: V80A

Domain	Start	End	E-Value	Type
Pfam:P16-Arc	9	153	2.4e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204825

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149842

Predicted Effect

probably benign
Transcript: ENSMUST00000154210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204127

Predicted Effect

probably benign
Transcript: ENSMUST00000153914

Predicted Effect

probably benign
Transcript: ENSMUST00000184996

SMART Domains

Protein: ENSMUSP00000139001
Gene: ENSMUSG00000026754

Domain	Start	End	E-Value	Type
coiled coil region	51	104	N/A	INTRINSIC
coiled coil region	126	169	N/A	INTRINSIC
coiled coil region	190	555	N/A	INTRINSIC
coiled coil region	599	647	N/A	INTRINSIC
Grip	682	728	5.68e-18	SMART

Coding Region Coverage

1x: 98.2%
3x: 97.2%
10x: 94.9%
20x: 89.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,222,991 (GRCm39)	M525T	possibly damaging	Het
Atp7b	G	A	8: 22,501,570 (GRCm39)	T781I	probably damaging	Het
Bltp3b	G	T	10: 89,640,961 (GRCm39)	G711W	probably damaging	Het
Celsr3	A	T	9: 108,705,836 (GRCm39)	D773V	probably damaging	Het
Clcn6	A	T	4: 148,102,093 (GRCm39)	H330Q	possibly damaging	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,759,803 (GRCm39)		probably null	Het
Dmbt1	C	A	7: 130,642,723 (GRCm39)	S180R	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Elovl7	T	C	13: 108,416,156 (GRCm39)	V182A	probably benign	Het
Eml3	G	A	19: 8,914,946 (GRCm39)	W601*	probably null	Het
Farp1	C	T	14: 121,472,489 (GRCm39)	P208L	probably damaging	Het
Fras1	A	T	5: 96,927,912 (GRCm39)	Y3775F	probably benign	Het
Gns	T	C	10: 121,227,351 (GRCm39)	W454R	probably benign	Het
Katnip	T	C	7: 125,442,527 (GRCm39)	F812S	possibly damaging	Het
Kcnh2	A	T	5: 24,531,765 (GRCm39)	L40*	probably null	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Lrrc37	G	T	11: 103,494,091 (GRCm39)	C655*	probably null	Het
Mgl2	T	A	11: 70,025,878 (GRCm39)	I31N	possibly damaging	Het
Muc6	T	C	7: 141,216,448 (GRCm39)	T2677A	possibly damaging	Het
Ndst1	A	G	18: 60,825,093 (GRCm39)	S742P	probably benign	Het
Or10g6	G	T	9: 39,933,733 (GRCm39)	V15L	probably benign	Het
Or1o11	G	T	17: 37,756,973 (GRCm39)	C187F	probably damaging	Het
Or4d6	A	C	19: 12,086,023 (GRCm39)	S70A	probably benign	Het
Or5b112	A	T	19: 13,319,521 (GRCm39)	Y133F	probably damaging	Het
Or8g21	T	C	9: 38,906,200 (GRCm39)	Y177C	probably benign	Het
Pcdhb22	A	G	18: 37,653,188 (GRCm39)	D552G	probably benign	Het
Pikfyve	T	A	1: 65,291,654 (GRCm39)	V1291E	probably damaging	Het
Ppp4r3a	T	C	12: 101,009,729 (GRCm39)	E636G	probably damaging	Het
Prl5a1	A	T	13: 28,333,994 (GRCm39)	I166L	possibly damaging	Het
Rb1	T	C	14: 73,449,060 (GRCm39)	D690G	possibly damaging	Het
Sh3tc2	A	G	18: 62,123,759 (GRCm39)	H840R	possibly damaging	Het
Skida1	T	C	2: 18,050,923 (GRCm39)		probably benign	Het
Slc31a2	A	G	4: 62,210,924 (GRCm39)	H19R	probably damaging	Het
Styxl2	C	A	1: 165,939,599 (GRCm39)		probably null	Het
Tnks2	A	T	19: 36,859,176 (GRCm39)	R314W	probably damaging	Het
Trak1	A	G	9: 121,275,864 (GRCm39)	D189G	probably damaging	Het
Trav13n-4	T	A	14: 53,601,303 (GRCm39)	V24E	probably damaging	Het
Ylpm1	T	C	12: 85,043,633 (GRCm39)	Y124H	unknown	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het

Other mutations in Arpc5l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01995:Arpc5l	APN	2	38,898,226 (GRCm39)	missense	probably damaging	1.00
IGL03011:Arpc5l	APN	2	38,903,730 (GRCm39)	unclassified	probably benign
IGL03099:Arpc5l	APN	2	38,903,844 (GRCm39)	missense	probably damaging	1.00
IGL03404:Arpc5l	APN	2	38,903,895 (GRCm39)	missense	probably damaging	1.00
R1621:Arpc5l	UTSW	2	38,903,913 (GRCm39)	critical splice donor site	probably null
R5400:Arpc5l	UTSW	2	38,903,747 (GRCm39)	missense	probably benign	0.19
R9387:Arpc5l	UTSW	2	38,903,195 (GRCm39)	missense	probably benign	0.00
R9564:Arpc5l	UTSW	2	38,905,124 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AACTACTTGTTCTCTCCACAGTAAGTG -3'
(R):5'- ATGCAGTCACGTACCTTTTCATG -3'

Sequencing Primer
(F):5'- GCTCTATCGGGGATGAAT -3'
(R):5'- TTCATGCCACTGGAGTAGC -3'

Posted On

2016-10-06