Mutagenetix > Incidental Mutation

Incidental Mutation 'R0565:Rph3al'

46138

Institutional Source

Beutler Lab

Gene Symbol

Rph3al

Ensembl Gene

ENSMUSG00000020847

Gene Name

rabphilin 3A-like (without C2 domains)

Synonyms

LOC385671, Noc2, 6530413F01Rik

MMRRC Submission

038756-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R0565 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

75721825-75829255 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 75724227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066504] [ENSMUST00000121287]

AlphaFold

Q768S4

Predicted Effect

probably null
Transcript: ENSMUST00000066504

SMART Domains

Protein: ENSMUSP00000064202
Gene: ENSMUSG00000020847

Domain	Start	End	E-Value	Type
Pfam:FYVE_2	45	159	5.3e-40	PFAM
low complexity region	207	221	N/A	INTRINSIC
low complexity region	258	269	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000121287

SMART Domains

Protein: ENSMUSP00000113869
Gene: ENSMUSG00000020847

Domain	Start	End	E-Value	Type
Pfam:FYVE_2	45	159	5.4e-41	PFAM
low complexity region	207	221	N/A	INTRINSIC
low complexity region	258	269	N/A	INTRINSIC

Meta Mutation Damage Score

0.9465

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.6%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit disregulation of exocytosis in both endocrine and exocrine cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,682,200 (GRCm39)	H1010L	probably benign	Het
A2ml1	C	A	6: 128,545,706 (GRCm39)	E474*	probably null	Het
Agtr1b	T	C	3: 20,369,838 (GRCm39)	H256R	probably damaging	Het
Amacr	C	T	15: 10,982,032 (GRCm39)	A46V	possibly damaging	Het
Atosb	A	T	4: 43,034,647 (GRCm39)		probably benign	Het
Cabp5	A	T	7: 13,135,260 (GRCm39)	M67L	probably damaging	Het
Caskin2	T	C	11: 115,691,842 (GRCm39)	E981G	probably damaging	Het
Ccdc88a	A	G	11: 29,411,042 (GRCm39)		probably benign	Het
Cd180	A	G	13: 102,839,382 (GRCm39)		probably benign	Het
Cd200l1	T	A	16: 45,264,536 (GRCm39)		probably benign	Het
Cemip	G	A	7: 83,613,318 (GRCm39)	H627Y	probably damaging	Het
Cep131	G	T	11: 119,964,588 (GRCm39)	H289Q	probably damaging	Het
Cep350	G	A	1: 155,836,941 (GRCm39)		probably benign	Het
Cfap52	A	T	11: 67,840,425 (GRCm39)	C169S	probably benign	Het
Cps1	A	T	1: 67,205,608 (GRCm39)	T544S	possibly damaging	Het
Cul7	T	C	17: 46,962,929 (GRCm39)	S187P	probably damaging	Het
Dhx40	C	A	11: 86,661,993 (GRCm39)	R688L	probably damaging	Het
E330034G19Rik	C	A	14: 24,356,985 (GRCm39)	Q174K	probably benign	Het
Efna5	T	C	17: 63,188,031 (GRCm39)	Y32C	probably damaging	Het
Ethe1	A	G	7: 24,307,314 (GRCm39)	H176R	probably benign	Het
Exoc3	A	G	13: 74,330,394 (GRCm39)		probably null	Het
Fam135b	T	A	15: 71,362,686 (GRCm39)	N232Y	possibly damaging	Het
Fndc9	C	T	11: 46,128,984 (GRCm39)	L168F	probably damaging	Het
Fpr-rs3	G	A	17: 20,844,283 (GRCm39)	A286V	probably damaging	Het
Immt	T	A	6: 71,823,467 (GRCm39)		probably benign	Het
Ipo7	T	C	7: 109,648,800 (GRCm39)		probably benign	Het
Ipo8	A	T	6: 148,688,221 (GRCm39)	L747H	probably damaging	Het
Ireb2	A	T	9: 54,807,267 (GRCm39)	N610Y	probably damaging	Het
Irs2	A	G	8: 11,054,592 (GRCm39)	V1280A	probably damaging	Het
Kcnj3	T	A	2: 55,485,276 (GRCm39)	M458K	probably benign	Het
Kl	A	G	5: 150,904,409 (GRCm39)	K387R	possibly damaging	Het
L3mbtl2	C	A	15: 81,568,487 (GRCm39)		probably benign	Het
Lamb1	A	C	12: 31,348,914 (GRCm39)	I649L	probably benign	Het
Lipm	A	C	19: 34,093,906 (GRCm39)	L274F	probably benign	Het
Lrfn3	A	G	7: 30,060,216 (GRCm39)	V3A	probably benign	Het
Lrrc8c	A	C	5: 105,754,894 (GRCm39)	D223A	probably damaging	Het
Ltn1	C	A	16: 87,212,898 (GRCm39)	K554N	probably benign	Het
Mertk	T	C	2: 128,613,403 (GRCm39)	I473T	probably benign	Het
Mfsd12	C	A	10: 81,197,243 (GRCm39)	N245K	probably benign	Het
Mmp16	A	G	4: 17,987,705 (GRCm39)	D89G	probably damaging	Het
Myo5a	T	A	9: 75,087,394 (GRCm39)	N1083K	probably benign	Het
Ncapd3	C	T	9: 26,999,294 (GRCm39)	A1290V	probably benign	Het
Nefm	A	G	14: 68,362,070 (GRCm39)	S65P	probably damaging	Het
Nt5c2	C	T	19: 46,886,064 (GRCm39)	R220H	probably damaging	Het
Or4c102	T	A	2: 88,422,353 (GRCm39)	D68E	probably benign	Het
Osbpl1a	A	T	18: 12,892,501 (GRCm39)	S438R	probably damaging	Het
Pcdhb5	T	C	18: 37,453,820 (GRCm39)	S67P	possibly damaging	Het
Per3	A	T	4: 151,118,409 (GRCm39)	I228N	probably damaging	Het
Pnpla7	T	G	2: 24,870,129 (GRCm39)		probably benign	Het
Ppp1r15b	G	T	1: 133,064,391 (GRCm39)		probably benign	Het
Psmd2	G	T	16: 20,479,176 (GRCm39)	L678F	probably null	Het
Ptch2	A	G	4: 116,963,340 (GRCm39)		probably benign	Het
Ranbp2	T	A	10: 58,312,158 (GRCm39)	D959E	probably benign	Het
Sec31b	T	A	19: 44,512,992 (GRCm39)	E499V	probably damaging	Het
Sel1l	T	C	12: 91,778,663 (GRCm39)	I667M	probably benign	Het
Sel1l	C	A	12: 91,780,719 (GRCm39)	V641L	possibly damaging	Het
Slc7a1	T	A	5: 148,288,879 (GRCm39)	I123F	probably damaging	Het
Smarca2	G	A	19: 26,659,275 (GRCm39)	R855Q	possibly damaging	Het
Sphk1	G	T	11: 116,427,184 (GRCm39)		probably benign	Het
Spink12	C	A	18: 44,237,755 (GRCm39)	S11*	probably null	Het
Sstr2	A	T	11: 113,516,445 (GRCm39)	I342F	probably benign	Het
Stxbp1	T	C	2: 32,709,860 (GRCm39)	T78A	probably benign	Het
Trim11	T	A	11: 58,881,410 (GRCm39)	S434R	probably damaging	Het
Ubr2	T	C	17: 47,266,812 (GRCm39)	E1113G	probably damaging	Het
Upb1	T	A	10: 75,264,188 (GRCm39)		probably benign	Het
Vit	T	A	17: 78,932,266 (GRCm39)	C458S	probably damaging	Het
Vmn1r58	T	C	7: 5,414,165 (GRCm39)	I22V	probably benign	Het
Vps25	T	C	11: 101,149,731 (GRCm39)		probably benign	Het
Wbp2	G	T	11: 115,973,211 (GRCm39)	D65E	possibly damaging	Het
Wdr72	A	G	9: 74,124,588 (GRCm39)	D980G	probably benign	Het
Xkr8	A	C	4: 132,458,228 (GRCm39)		probably null	Het

Other mutations in Rph3al

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
continental	UTSW	11	75,799,810 (GRCm39)	nonsense	probably null
R0472:Rph3al	UTSW	11	75,799,795 (GRCm39)	missense	probably benign	0.31
R0609:Rph3al	UTSW	11	75,799,795 (GRCm39)	missense	probably benign	0.31
R1606:Rph3al	UTSW	11	75,797,367 (GRCm39)	missense	probably damaging	1.00
R2340:Rph3al	UTSW	11	75,724,258 (GRCm39)	missense	probably benign
R2520:Rph3al	UTSW	11	75,797,373 (GRCm39)	missense	possibly damaging	0.94
R2943:Rph3al	UTSW	11	75,725,714 (GRCm39)	splice site	probably null
R4753:Rph3al	UTSW	11	75,799,845 (GRCm39)	missense	probably damaging	1.00
R6551:Rph3al	UTSW	11	75,797,372 (GRCm39)	missense	possibly damaging	0.94
R6699:Rph3al	UTSW	11	75,791,663 (GRCm39)	intron	probably benign
R6711:Rph3al	UTSW	11	75,799,810 (GRCm39)	nonsense	probably null
R6965:Rph3al	UTSW	11	75,745,276 (GRCm39)	missense	probably damaging	1.00
R8953:Rph3al	UTSW	11	75,797,401 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTGTTACACCTATCCCACCGGAAC -3'
(R):5'- ACATTCACGAATGGTCCCCTTGC -3'

Sequencing Primer
(F):5'- GGTGGTAGATTCCACACATCC -3'
(R):5'- CAGGTGCCAGCATGGAGTC -3'

Posted On

2013-06-11