Mutagenetix > Incidental Mutation

Incidental Mutation 'R5106:Raph1'

392606

Institutional Source

Beutler Lab

Gene Symbol

Raph1

Ensembl Gene

ENSMUSG00000026014

Gene Name

Ras association (RalGDS/AF-6) and pleckstrin homology domains 1

Synonyms

C730009O10Rik, Lpd, 9430025M21Rik, lamellipodin

MMRRC Submission

042694-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R5106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60482292-60567104 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60533300 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 36 (D36G)

Ref Sequence

ENSEMBL: ENSMUSP00000087763 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027168] [ENSMUST00000090293] [ENSMUST00000140485] [ENSMUST00000142258]

AlphaFold

F2Z3U3

Predicted Effect

probably damaging
Transcript: ENSMUST00000027168
AA Change: D36G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027168
Gene: ENSMUSG00000026014
AA Change: D36G

Domain	Start	End	E-Value	Type
low complexity region	201	218	N/A	INTRINSIC
low complexity region	294	308	N/A	INTRINSIC
RA	322	408	1.63e-13	SMART
PH	450	560	3.38e-11	SMART
low complexity region	581	604	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000090293
AA Change: D36G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087763
Gene: ENSMUSG00000026014
AA Change: D36G

Domain	Start	End	E-Value	Type
low complexity region	201	218	N/A	INTRINSIC
low complexity region	294	308	N/A	INTRINSIC
RA	322	408	1.63e-13	SMART
PH	450	560	3.38e-11	SMART
low complexity region	581	604	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117433

Predicted Effect

unknown
Transcript: ENSMUST00000140485
AA Change: D36G

SMART Domains

Protein: ENSMUSP00000121023
Gene: ENSMUSG00000026014
AA Change: D36G

Domain	Start	End	E-Value	Type
low complexity region	201	218	N/A	INTRINSIC
low complexity region	245	256	N/A	INTRINSIC
RA	270	356	1.63e-13	SMART
PH	398	508	3.38e-11	SMART
low complexity region	529	552	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000142258
AA Change: D36G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120638
Gene: ENSMUSG00000026014
AA Change: D36G

Domain	Start	End	E-Value	Type
low complexity region	202	212	N/A	INTRINSIC

Meta Mutation Damage Score

0.2779

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain pleckstrin-homology domains, Ras-association domains, and proline-rich C-termini. The protein encoded by this gene regulates actin dynamics through interaction with Ena/Vasodilator proteins as well as direct binding to filamentous actin to regulate actin network assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a conditional allele activated in all cells exhibit background sensitive neonatal or postnatal lethality, decreased body size, belly spotting and decreased melanocyte numbers in the trunk. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C1qtnf2	G	A	11: 43,486,053	R84Q	possibly damaging	Het
Carmil2	T	A	8: 105,694,006		probably null	Het
Cenpf	A	T	1: 189,683,808	C107S	probably benign	Het
Cideb	T	C	14: 55,754,525	M191V	probably benign	Het
Cope	C	A	8: 70,310,447	R213S	possibly damaging	Het
Ctcf	T	C	8: 105,681,498		probably benign	Het
Daam2	T	C	17: 49,476,461	Y647C	probably damaging	Het
Dlg2	T	C	7: 92,442,686	Y920H	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Fdps	C	A	3: 89,099,403	R127L	probably damaging	Het
G6pd2	C	T	5: 61,810,352	T490I	probably benign	Het
Gm6401	A	G	14: 41,965,506	M121T	probably damaging	Het
Gnl2	T	C	4: 125,053,536		probably null	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
Gtf2a1l	A	G	17: 88,694,645	S310G	possibly damaging	Het
H2afy	A	G	13: 56,088,293	V213A	possibly damaging	Het
Igdcc4	T	C	9: 65,124,701	F500L	probably damaging	Het
Lgr4	A	T	2: 109,997,595	H207L	probably damaging	Het
Llcfc1	A	G	6: 41,685,376	M105V	probably benign	Het
Map2k3	A	G	11: 60,941,882	K18E	probably damaging	Het
Mccc1	T	A	3: 35,972,564	D528V	probably benign	Het
Nedd4l	C	T	18: 65,193,305	T568M	probably damaging	Het
Nr3c1	A	C	18: 39,486,601	I211S	possibly damaging	Het
Nudt5	C	T	2: 5,854,829		probably benign	Het
Olfr1176	T	C	2: 88,340,110	Y182H	probably benign	Het
Olfr704	T	A	7: 106,865,388	M136K	probably damaging	Het
Olfr771	T	C	10: 129,160,237	Y249C	probably damaging	Het
Olfr826	A	T	10: 130,180,308	S191T	probably benign	Het
Pcid2	A	T	8: 13,079,648	F326I	probably damaging	Het
Pcnt	A	T	10: 76,401,444	I1336N	probably damaging	Het
Pomk	T	C	8: 25,986,376	D50G	probably benign	Het
Ppp2r2a	T	C	14: 67,023,097	Y244C	probably damaging	Het
Ptprz1	A	G	6: 23,000,028	T706A	probably benign	Het
Rad54l	G	A	4: 116,099,764		probably benign	Het
Rgs7	A	G	1: 175,076,850	S166P	possibly damaging	Het
Rnf183	C	G	4: 62,428,228	R111P	probably damaging	Het
Rp1l1	A	T	14: 64,027,946	D327V	probably damaging	Het
Rpl3l	A	G	17: 24,732,437	Y156C	probably damaging	Het
Slc25a54	G	T	3: 109,112,864	C398F	probably benign	Het
Slc39a2	A	G	14: 51,895,531	*310W	probably null	Het
Slit3	T	C	11: 35,612,367	C464R	probably damaging	Het
Smu1	A	T	4: 40,743,104	F345I	possibly damaging	Het
Ssc5d	T	A	7: 4,936,665	V700E	probably benign	Het
Stxbp3	T	C	3: 108,794,927	Y521C	probably benign	Het
Tenm4	T	C	7: 96,843,149	S1061P	probably damaging	Het
Thoc5	T	C	11: 4,910,630	S103P	probably damaging	Het
Tmem221	A	G	8: 71,555,878	F173L	probably benign	Het
Trit1	T	C	4: 123,054,313		probably benign	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Vmn2r106	T	C	17: 20,279,133		probably null	Het
Vmn2r38	C	A	7: 9,075,170	V738L	possibly damaging	Het
Zfp160	T	A	17: 21,026,761	H524Q	probably damaging	Het
Zfp791	T	A	8: 85,110,630	K202*	probably null	Het
Zfp985	T	A	4: 147,584,155	S493R	probably damaging	Het
Zkscan7	T	C	9: 122,896,133		probably benign	Het
Zwilch	A	C	9: 64,153,584	F329V	probably damaging	Het

Other mutations in Raph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02300:Raph1	APN	1	60525947	missense	possibly damaging	0.76
IGL02900:Raph1	APN	1	60502863	missense	probably damaging	1.00
FR4976:Raph1	UTSW	1	60489267	intron	probably benign
R0048:Raph1	UTSW	1	60500605	missense	probably benign	0.03
R0048:Raph1	UTSW	1	60500605	missense	probably benign	0.03
R0049:Raph1	UTSW	1	60525899	missense	probably benign	0.03
R0049:Raph1	UTSW	1	60525899	missense	probably benign	0.03
R0227:Raph1	UTSW	1	60525977	missense	probably benign	0.00
R0387:Raph1	UTSW	1	60510496	intron	probably benign
R0607:Raph1	UTSW	1	60525869	missense	probably damaging	1.00
R1740:Raph1	UTSW	1	60519024	nonsense	probably null
R2274:Raph1	UTSW	1	60498500	missense	probably damaging	1.00
R3108:Raph1	UTSW	1	60493386	missense	probably benign	0.01
R3977:Raph1	UTSW	1	60498523	missense	probably benign	0.39
R4260:Raph1	UTSW	1	60502965	missense	possibly damaging	0.94
R4487:Raph1	UTSW	1	60502869	missense	possibly damaging	0.68
R4721:Raph1	UTSW	1	60503001	unclassified	probably benign
R4782:Raph1	UTSW	1	60489114	missense	probably damaging	1.00
R5027:Raph1	UTSW	1	60496277	missense	probably damaging	1.00
R5037:Raph1	UTSW	1	60496222	splice site	probably null
R5506:Raph1	UTSW	1	60493498	intron	probably benign
R5510:Raph1	UTSW	1	60522946	unclassified	probably benign
R5587:Raph1	UTSW	1	60498473	missense	probably damaging	1.00
R5591:Raph1	UTSW	1	60501746	unclassified	probably benign
R5619:Raph1	UTSW	1	60490255	intron	probably benign
R5776:Raph1	UTSW	1	60490156	intron	probably benign
R5802:Raph1	UTSW	1	60488673	missense	possibly damaging	0.81
R6742:Raph1	UTSW	1	60525720	missense	probably damaging	0.97
R7122:Raph1	UTSW	1	60525977	missense	probably benign	0.10
R7219:Raph1	UTSW	1	60502873	missense	unknown
R7251:Raph1	UTSW	1	60489868	missense	unknown
R7254:Raph1	UTSW	1	60499608	missense	unknown
R7732:Raph1	UTSW	1	60533288	missense	possibly damaging	0.82
R7979:Raph1	UTSW	1	60525989	missense	probably benign	0.00
R7986:Raph1	UTSW	1	60496286	missense
R8167:Raph1	UTSW	1	60490111	missense	unknown
R8168:Raph1	UTSW	1	60499620	missense	unknown
R8399:Raph1	UTSW	1	60489318	missense	unknown
R9036:Raph1	UTSW	1	60502965	missense	unknown
R9146:Raph1	UTSW	1	60518978	critical splice donor site	probably null
R9338:Raph1	UTSW	1	60490141	missense	unknown
R9381:Raph1	UTSW	1	60501800	missense	unknown
R9383:Raph1	UTSW	1	60525670	missense	unknown
R9399:Raph1	UTSW	1	60525995	missense	probably benign
R9454:Raph1	UTSW	1	60489594	missense	unknown
R9561:Raph1	UTSW	1	60525728	missense	possibly damaging	0.49
RF018:Raph1	UTSW	1	60489267	intron	probably benign
RF022:Raph1	UTSW	1	60489267	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GACCCTATGTTTTAAAGAAGTGGTGC -3'
(R):5'- ACAGACCTTGTACTGGATGC -3'

Sequencing Primer
(F):5'- TGTCTCTACCTGAATGTACATGTAC -3'
(R):5'- AGACCTTGTACTGGATGCTTTTTAAG -3'

Posted On

2016-06-15