Mutagenetix > Incidental Mutation

Incidental Mutation 'R6746:Ralgapb'

532818

Institutional Source

Beutler Lab

Gene Symbol

Ralgapb

Ensembl Gene

ENSMUSG00000027652

Gene Name

Ral GTPase activating protein, beta subunit (non-catalytic)

Synonyms

B230339M05Rik

MMRRC Submission

044863-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6746 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

158251768-158341173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 158318056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 866 (V866G)

Ref Sequence

ENSEMBL: ENSMUSP00000116481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046274] [ENSMUST00000109485] [ENSMUST00000109486] [ENSMUST00000141497]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000046274
AA Change: V1184G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048430
Gene: ENSMUSG00000027652
AA Change: V1184G

Domain	Start	End	E-Value	Type
low complexity region	166	178	N/A	INTRINSIC
low complexity region	610	625	N/A	INTRINSIC
low complexity region	775	788	N/A	INTRINSIC
low complexity region	910	920	N/A	INTRINSIC
low complexity region	1086	1097	N/A	INTRINSIC
low complexity region	1309	1321	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109485
AA Change: V1200G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105111
Gene: ENSMUSG00000027652
AA Change: V1200G

Domain	Start	End	E-Value	Type
low complexity region	166	178	N/A	INTRINSIC
low complexity region	622	637	N/A	INTRINSIC
low complexity region	791	804	N/A	INTRINSIC
low complexity region	926	936	N/A	INTRINSIC
low complexity region	1102	1113	N/A	INTRINSIC
low complexity region	1325	1337	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109486
AA Change: V1188G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105112
Gene: ENSMUSG00000027652
AA Change: V1188G

Domain	Start	End	E-Value	Type
low complexity region	166	178	N/A	INTRINSIC
low complexity region	610	625	N/A	INTRINSIC
low complexity region	779	792	N/A	INTRINSIC
low complexity region	914	924	N/A	INTRINSIC
low complexity region	1090	1101	N/A	INTRINSIC
low complexity region	1313	1325	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000141497
AA Change: V866G

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

SMART Domains

Protein: ENSMUSP00000116481
Gene: ENSMUSG00000027652
AA Change: V866G

Domain	Start	End	E-Value	Type
low complexity region	288	303	N/A	INTRINSIC
low complexity region	457	470	N/A	INTRINSIC
low complexity region	592	602	N/A	INTRINSIC
low complexity region	768	779	N/A	INTRINSIC
low complexity region	991	1003	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,565,195 (GRCm39)	L79*	probably null	Het
Acot3	A	G	12: 84,100,248 (GRCm39)	N8S	probably benign	Het
Adora2a	T	C	10: 75,169,442 (GRCm39)	V302A	probably benign	Het
Anpep	A	C	7: 79,488,933 (GRCm39)		probably null	Het
Arrb1	A	G	7: 99,250,357 (GRCm39)	K392E	probably benign	Het
Atp8a1	A	T	5: 67,908,392 (GRCm39)	N444K	probably benign	Het
Bltp3b	T	A	10: 89,623,020 (GRCm39)	N298K	probably benign	Het
Brinp2	C	T	1: 158,094,160 (GRCm39)	G181R	probably benign	Het
Cacna1g	A	T	11: 94,300,253 (GRCm39)	C2184*	probably null	Het
Cacna1h	C	T	17: 25,600,524 (GRCm39)	A1606T	probably damaging	Het
Ccdc30	T	C	4: 119,213,915 (GRCm39)	T205A	probably benign	Het
Celsr1	A	G	15: 85,915,696 (GRCm39)	I759T	probably damaging	Het
Chaf1a	A	G	17: 56,370,404 (GRCm39)	D623G	possibly damaging	Het
Col6a3	G	T	1: 90,706,767 (GRCm39)	N2115K	unknown	Het
Dync1h1	A	T	12: 110,618,087 (GRCm39)	T3209S	probably damaging	Het
Erich6	T	C	3: 58,523,987 (GRCm39)	D629G	possibly damaging	Het
Fahd1	G	T	17: 25,068,915 (GRCm39)	A54E	probably damaging	Het
Flrt3	C	T	2: 140,501,945 (GRCm39)	R561Q	probably damaging	Het
Grm6	A	T	11: 50,747,790 (GRCm39)	D334V	probably damaging	Het
Helb	A	T	10: 119,941,373 (GRCm39)	D438E	probably damaging	Het
Hmgcs1	T	C	13: 120,156,585 (GRCm39)		probably null	Het
Hnf4g	C	A	3: 3,722,170 (GRCm39)	Y441*	probably null	Het
Hspa13	A	T	16: 75,561,925 (GRCm39)	N91K	possibly damaging	Het
Ilvbl	T	C	10: 78,413,057 (GRCm39)	I193T	possibly damaging	Het
Itga7	T	C	10: 128,785,341 (GRCm39)	V848A	probably benign	Het
Kash5	C	T	7: 44,849,735 (GRCm39)	V63I	probably benign	Het
Lpin1	A	G	12: 16,615,529 (GRCm39)	M341T	probably benign	Het
Lypd5	G	T	7: 24,052,531 (GRCm39)		probably null	Het
Mrgprb1	A	C	7: 48,097,645 (GRCm39)	V89G	possibly damaging	Het
Nsun7	T	C	5: 66,441,080 (GRCm39)		probably null	Het
Oasl1	T	A	5: 115,075,242 (GRCm39)	V434E	probably damaging	Het
Or2ak6	G	A	11: 58,593,369 (GRCm39)	V281I	probably benign	Het
Or7g22	A	G	9: 19,048,774 (GRCm39)	M162V	probably benign	Het
Or8k16	T	C	2: 85,519,952 (GRCm39)	Y60H	probably damaging	Het
Otor	T	A	2: 142,921,955 (GRCm39)		probably null	Het
Pik3cg	G	A	12: 32,244,757 (GRCm39)	T899M	probably damaging	Het
Plaat5	A	G	19: 7,590,695 (GRCm39)	D74G	probably benign	Het
Pld2	C	A	11: 70,431,933 (GRCm39)	L52M	probably damaging	Het
Pon3	A	T	6: 5,230,786 (GRCm39)	M247K	possibly damaging	Het
Ppfia2	C	A	10: 106,742,319 (GRCm39)	Y1037*	probably null	Het
Ppm1m	A	T	9: 106,075,351 (GRCm39)	C99*	probably null	Het
Prss44	A	T	9: 110,644,361 (GRCm39)	*145C	probably null	Het
Ptpro	T	A	6: 137,371,821 (GRCm39)	Y613N	probably damaging	Het
Rassf6	C	A	5: 90,757,633 (GRCm39)	R109L	possibly damaging	Het
Rbm4b	A	C	19: 4,812,031 (GRCm39)	T147P	probably benign	Het
Rpl7l1	T	C	17: 47,090,322 (GRCm39)	K104R	probably benign	Het
Ryr1	A	T	7: 28,816,829 (GRCm39)	I69N	possibly damaging	Het
Scd1	G	T	19: 44,394,927 (GRCm39)	F99L	probably benign	Het
Semp2l1	A	T	1: 32,585,844 (GRCm39)	I22N	probably benign	Het
Spint2	A	T	7: 28,958,848 (GRCm39)	S66T	probably benign	Het
Tarm1	T	A	7: 3,550,978 (GRCm39)	I2F	probably benign	Het
Tenm4	T	C	7: 96,542,067 (GRCm39)	V1860A	probably damaging	Het
Usp38	A	G	8: 81,740,920 (GRCm39)	I49T	possibly damaging	Het
Vars2	A	G	17: 35,971,294 (GRCm39)		probably null	Het
Vmn2r27	T	G	6: 124,177,552 (GRCm39)	H484P	possibly damaging	Het
Wdr35	T	A	12: 9,053,982 (GRCm39)		probably null	Het
Zfp937	A	T	2: 150,081,343 (GRCm39)	K458*	probably null	Het

Other mutations in Ralgapb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Ralgapb	APN	2	158,262,776 (GRCm39)	missense	probably damaging	1.00
IGL00534:Ralgapb	APN	2	158,272,420 (GRCm39)	missense	possibly damaging	0.72
IGL01362:Ralgapb	APN	2	158,277,385 (GRCm39)	missense	probably damaging	1.00
IGL01653:Ralgapb	APN	2	158,304,079 (GRCm39)	missense	possibly damaging	0.94
IGL01704:Ralgapb	APN	2	158,262,795 (GRCm39)	missense	possibly damaging	0.92
IGL02000:Ralgapb	APN	2	158,296,034 (GRCm39)	splice site	probably benign
IGL02169:Ralgapb	APN	2	158,268,124 (GRCm39)	missense	probably damaging	1.00
IGL02516:Ralgapb	APN	2	158,307,735 (GRCm39)	splice site	probably benign
IGL02548:Ralgapb	APN	2	158,286,585 (GRCm39)	missense	probably damaging	0.97
IGL02550:Ralgapb	APN	2	158,290,331 (GRCm39)	missense	probably damaging	1.00
IGL02653:Ralgapb	APN	2	158,285,229 (GRCm39)	missense	probably damaging	1.00
IGL02744:Ralgapb	APN	2	158,288,071 (GRCm39)	missense	probably damaging	1.00
IGL02804:Ralgapb	APN	2	158,268,204 (GRCm39)	missense	possibly damaging	0.78
IGL02937:Ralgapb	APN	2	158,334,936 (GRCm39)	splice site	probably null
IGL02993:Ralgapb	APN	2	158,279,314 (GRCm39)	missense	possibly damaging	0.90
IGL03154:Ralgapb	APN	2	158,274,786 (GRCm39)	missense	probably damaging	1.00
IGL03204:Ralgapb	APN	2	158,307,832 (GRCm39)	missense	possibly damaging	0.67
IGL03347:Ralgapb	APN	2	158,307,880 (GRCm39)	missense	possibly damaging	0.67
Chacha	UTSW	2	158,334,372 (GRCm39)	missense	probably damaging	0.99
Gato	UTSW	2	158,286,540 (GRCm39)	missense	probably damaging	1.00
Kibble	UTSW	2	158,279,060 (GRCm39)	missense	probably damaging	1.00
ralston	UTSW	2	158,296,197 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Ralgapb	UTSW	2	158,272,342 (GRCm39)	missense	probably benign	0.34
R0037:Ralgapb	UTSW	2	158,279,331 (GRCm39)	missense	probably damaging	1.00
R0037:Ralgapb	UTSW	2	158,279,331 (GRCm39)	missense	probably damaging	1.00
R0077:Ralgapb	UTSW	2	158,315,169 (GRCm39)	missense	probably damaging	1.00
R0581:Ralgapb	UTSW	2	158,334,881 (GRCm39)	missense	probably benign
R0629:Ralgapb	UTSW	2	158,281,467 (GRCm39)	missense	probably damaging	1.00
R0839:Ralgapb	UTSW	2	158,315,203 (GRCm39)	critical splice donor site	probably null
R1331:Ralgapb	UTSW	2	158,272,453 (GRCm39)	missense	probably damaging	1.00
R1468:Ralgapb	UTSW	2	158,304,173 (GRCm39)	missense	possibly damaging	0.95
R1468:Ralgapb	UTSW	2	158,304,173 (GRCm39)	missense	possibly damaging	0.95
R1540:Ralgapb	UTSW	2	158,307,746 (GRCm39)	missense	probably benign	0.00
R1572:Ralgapb	UTSW	2	158,288,119 (GRCm39)	splice site	probably benign
R1628:Ralgapb	UTSW	2	158,272,383 (GRCm39)	missense	probably benign	0.04
R1718:Ralgapb	UTSW	2	158,285,200 (GRCm39)	nonsense	probably null
R1777:Ralgapb	UTSW	2	158,304,115 (GRCm39)	missense	probably damaging	1.00
R1822:Ralgapb	UTSW	2	158,334,372 (GRCm39)	missense	probably damaging	0.99
R1903:Ralgapb	UTSW	2	158,337,483 (GRCm39)	missense	probably benign	0.04
R1909:Ralgapb	UTSW	2	158,286,595 (GRCm39)	missense	probably damaging	1.00
R2157:Ralgapb	UTSW	2	158,279,392 (GRCm39)	missense	probably benign	0.15
R4524:Ralgapb	UTSW	2	158,279,226 (GRCm39)	missense	probably benign	0.00
R4946:Ralgapb	UTSW	2	158,282,887 (GRCm39)	missense	probably damaging	1.00
R4975:Ralgapb	UTSW	2	158,277,428 (GRCm39)	missense	possibly damaging	0.66
R5014:Ralgapb	UTSW	2	158,337,455 (GRCm39)	missense	probably damaging	1.00
R5165:Ralgapb	UTSW	2	158,307,832 (GRCm39)	missense	possibly damaging	0.67
R5465:Ralgapb	UTSW	2	158,290,325 (GRCm39)	missense	possibly damaging	0.81
R5526:Ralgapb	UTSW	2	158,274,705 (GRCm39)	missense	probably damaging	1.00
R5566:Ralgapb	UTSW	2	158,336,630 (GRCm39)	missense	possibly damaging	0.90
R5949:Ralgapb	UTSW	2	158,296,179 (GRCm39)	missense	probably damaging	1.00
R6140:Ralgapb	UTSW	2	158,298,492 (GRCm39)	missense	probably damaging	1.00
R6175:Ralgapb	UTSW	2	158,288,075 (GRCm39)	missense	probably damaging	1.00
R6192:Ralgapb	UTSW	2	158,291,367 (GRCm39)	splice site	probably null
R6364:Ralgapb	UTSW	2	158,304,029 (GRCm39)	missense	probably damaging	1.00
R6458:Ralgapb	UTSW	2	158,286,540 (GRCm39)	missense	probably damaging	1.00
R6782:Ralgapb	UTSW	2	158,278,486 (GRCm39)	missense	probably damaging	0.99
R6788:Ralgapb	UTSW	2	158,278,486 (GRCm39)	missense	probably damaging	0.99
R7017:Ralgapb	UTSW	2	158,290,257 (GRCm39)	missense	probably benign	0.19
R7108:Ralgapb	UTSW	2	158,336,582 (GRCm39)	missense	probably damaging	1.00
R7108:Ralgapb	UTSW	2	158,334,380 (GRCm39)	missense	probably damaging	0.98
R7236:Ralgapb	UTSW	2	158,282,747 (GRCm39)	missense	probably benign	0.34
R7454:Ralgapb	UTSW	2	158,274,822 (GRCm39)	missense	possibly damaging	0.94
R7485:Ralgapb	UTSW	2	158,285,275 (GRCm39)	missense	probably benign	0.35
R7595:Ralgapb	UTSW	2	158,268,085 (GRCm39)	missense	possibly damaging	0.91
R7615:Ralgapb	UTSW	2	158,292,190 (GRCm39)	missense	probably damaging	0.99
R7728:Ralgapb	UTSW	2	158,324,423 (GRCm39)	critical splice donor site	probably null
R7913:Ralgapb	UTSW	2	158,307,859 (GRCm39)	missense	probably damaging	1.00
R7953:Ralgapb	UTSW	2	158,307,803 (GRCm39)	missense	probably benign	0.10
R8245:Ralgapb	UTSW	2	158,285,256 (GRCm39)	missense	probably damaging	0.96
R8337:Ralgapb	UTSW	2	158,292,192 (GRCm39)	missense	probably benign	0.11
R8363:Ralgapb	UTSW	2	158,268,119 (GRCm39)	missense	probably damaging	1.00
R8429:Ralgapb	UTSW	2	158,268,217 (GRCm39)	missense	probably damaging	1.00
R8673:Ralgapb	UTSW	2	158,292,133 (GRCm39)	missense	probably damaging	1.00
R8955:Ralgapb	UTSW	2	158,337,389 (GRCm39)	missense	probably damaging	1.00
R8955:Ralgapb	UTSW	2	158,279,264 (GRCm39)	missense	probably benign	0.05
R8992:Ralgapb	UTSW	2	158,296,197 (GRCm39)	missense	probably damaging	1.00
R9013:Ralgapb	UTSW	2	158,279,060 (GRCm39)	missense	probably damaging	1.00
R9141:Ralgapb	UTSW	2	158,262,811 (GRCm39)	missense	possibly damaging	0.80
R9166:Ralgapb	UTSW	2	158,274,842 (GRCm39)	critical splice donor site	probably null
R9242:Ralgapb	UTSW	2	158,277,386 (GRCm39)	missense	probably benign	0.13
R9274:Ralgapb	UTSW	2	158,278,539 (GRCm39)	missense	probably damaging	1.00
R9354:Ralgapb	UTSW	2	158,279,313 (GRCm39)	missense	possibly damaging	0.90
R9454:Ralgapb	UTSW	2	158,315,072 (GRCm39)	missense	probably benign	0.30
R9489:Ralgapb	UTSW	2	158,268,283 (GRCm39)	missense	possibly damaging	0.89
R9490:Ralgapb	UTSW	2	158,334,350 (GRCm39)	missense	probably benign	0.29
R9510:Ralgapb	UTSW	2	158,285,856 (GRCm39)	missense	probably damaging	0.98
Z1177:Ralgapb	UTSW	2	158,277,475 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CATGCATGTTCCACTATGGTG -3'
(R):5'- GACCTTCCCTTGATGCAATCTG -3'

Sequencing Primer
(F):5'- GGTGATATATTCCCAAATTCATGCTG -3'
(R):5'- CCCTTGATGCAATCTGTTTAAAATAC -3'

Posted On

2018-08-29