Mutagenetix > Incidental Mutation

Incidental Mutation 'R6048:Ralgapa2'

483372

Institutional Source

Beutler Lab

Gene Symbol

Ralgapa2

Ensembl Gene

ENSMUSG00000037110

Gene Name

Ral GTPase activating protein, alpha subunit 2 (catalytic)

Synonyms

AS250, A230067G21Rik, RGC2

MMRRC Submission

044216-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.250) question?

Stock #

R6048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146081799-146354264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146276765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 492 (S492G)

Ref Sequence

ENSEMBL: ENSMUSP00000153734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109986] [ENSMUST00000131824] [ENSMUST00000228797]

AlphaFold

A3KGS3

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000109982

Predicted Effect

probably benign
Transcript: ENSMUST00000109986
AA Change: S492G

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105613
Gene: ENSMUSG00000037110
AA Change: S492G

Domain	Start	End	E-Value	Type
low complexity region	469	480	N/A	INTRINSIC
low complexity region	1017	1028	N/A	INTRINSIC
low complexity region	1296	1301	N/A	INTRINSIC
Pfam:Rap_GAP	1701	1877	6.8e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131824
AA Change: S492G

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000122039
Gene: ENSMUSG00000037110
AA Change: S492G

Domain	Start	End	E-Value	Type
low complexity region	469	480	N/A	INTRINSIC
low complexity region	979	990	N/A	INTRINSIC
low complexity region	1258	1263	N/A	INTRINSIC
Pfam:Rap_GAP	1663	1842	1.3e-66	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135974

Predicted Effect

unknown
Transcript: ENSMUST00000149499
AA Change: S162G

SMART Domains

Protein: ENSMUSP00000122017
Gene: ENSMUSG00000037110
AA Change: S162G

Domain	Start	End	E-Value	Type
low complexity region	140	151	N/A	INTRINSIC
low complexity region	650	661	N/A	INTRINSIC
low complexity region	929	934	N/A	INTRINSIC
Pfam:Rap_GAP	1334	1511	2.4e-48	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228797
AA Change: S492G

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.0599

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

98% (60/61)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased incidence and severity of induced urothelial bladder tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a2	T	C	9: 71,169,049 (GRCm39)	I177T	probably damaging	Het
Aopep	T	A	13: 63,388,139 (GRCm39)	F39L	probably damaging	Het
Arl4c	A	G	1: 88,629,350 (GRCm39)	S13P	possibly damaging	Het
Bst1	G	T	5: 43,976,306 (GRCm39)		probably benign	Het
Carmil3	G	A	14: 55,741,302 (GRCm39)	R1029Q	probably benign	Het
Cflar	A	G	1: 58,780,202 (GRCm39)	T269A	probably benign	Het
Clcnka	T	A	4: 141,121,798 (GRCm39)	Y236F	probably damaging	Het
Clmp	T	A	9: 40,682,405 (GRCm39)	I63N	probably damaging	Het
Cln6	T	C	9: 62,751,908 (GRCm39)	L44P	probably damaging	Het
Col5a3	C	T	9: 20,718,915 (GRCm39)	A280T	unknown	Het
Dact2	A	G	17: 14,417,567 (GRCm39)	L211P	probably damaging	Het
Dclk2	G	T	3: 86,813,272 (GRCm39)	Q225K	probably damaging	Het
Ddx60	T	C	8: 62,453,616 (GRCm39)	F1245S	probably benign	Het
Efcab3	A	G	11: 104,835,259 (GRCm39)	K3540E	unknown	Het
Eif3i	T	C	4: 129,487,145 (GRCm39)	N240S	probably benign	Het
Enpp1	T	C	10: 24,536,152 (GRCm39)	Y416C	probably damaging	Het
Epb42	T	A	2: 120,854,889 (GRCm39)	R565S	probably benign	Het
Eral1	G	A	11: 77,966,609 (GRCm39)	P217L	probably benign	Het
Fbxl16	A	G	17: 26,035,967 (GRCm39)	Y188C	probably benign	Het
Fgd3	G	A	13: 49,427,224 (GRCm39)	P503S	probably benign	Het
Frem3	T	C	8: 81,340,062 (GRCm39)	L785P	probably benign	Het
Gadl1	A	G	9: 115,835,769 (GRCm39)		probably null	Het
Gm10787	C	T	10: 76,857,676 (GRCm39)		noncoding transcript	Het
Gm6563	A	G	19: 23,653,246 (GRCm39)	K12R	probably benign	Het
Grm5	T	C	7: 87,675,758 (GRCm39)	L424P	probably damaging	Het
H2ac11	A	G	13: 22,227,006 (GRCm39)	V31A	probably benign	Het
Il17re	T	C	6: 113,447,069 (GRCm39)	S607P	possibly damaging	Het
Ints7	A	G	1: 191,353,524 (GRCm39)		probably benign	Het
Itih1	A	G	14: 30,651,780 (GRCm39)	M854T	possibly damaging	Het
Kif1b	A	G	4: 149,348,086 (GRCm39)	L315P	probably damaging	Het
Ms4a6b	T	C	19: 11,497,734 (GRCm39)	V11A	possibly damaging	Het
Mxd1	C	A	6: 86,627,966 (GRCm39)	D191Y	probably damaging	Het
Nol8	T	A	13: 49,807,160 (GRCm39)		probably null	Het
Ntn4	T	A	10: 93,543,128 (GRCm39)		probably null	Het
Nxph1	A	T	6: 9,247,103 (GRCm39)	T25S	probably benign	Het
Or1n1	A	G	2: 36,749,853 (GRCm39)	V169A	probably benign	Het
Or2bd2	A	C	7: 6,443,354 (GRCm39)	T152P	possibly damaging	Het
Or3a1	A	T	11: 74,225,961 (GRCm39)	I32K	probably benign	Het
Or51f1d	A	G	7: 102,700,526 (GRCm39)	N7S	probably benign	Het
Or5ac20	C	T	16: 59,104,342 (GRCm39)	V173I	probably benign	Het
Or6c219	A	G	10: 129,781,695 (GRCm39)	F79L	possibly damaging	Het
Oxsm	T	A	14: 16,242,308 (GRCm38)	M154L	possibly damaging	Het
Papolg	A	C	11: 23,841,815 (GRCm39)	I36S	probably benign	Het
Pde3b	T	A	7: 114,107,502 (GRCm39)	H544Q	probably benign	Het
Pdzd2	A	T	15: 12,592,656 (GRCm39)		probably null	Het
Prkce	C	A	17: 86,800,775 (GRCm39)	P397Q	probably benign	Het
Rnf216	A	G	5: 143,054,659 (GRCm39)	Y630H	probably damaging	Het
Ruvbl1	C	T	6: 88,459,973 (GRCm39)	T211I	possibly damaging	Het
Scyl2	A	T	10: 89,481,348 (GRCm39)	D666E	probably benign	Het
Sertad2	A	G	11: 20,598,436 (GRCm39)	T211A	probably benign	Het
Sipa1l1	A	T	12: 82,487,643 (GRCm39)	Q1639L	probably benign	Het
Snx5	T	C	2: 144,101,073 (GRCm39)	D98G	probably damaging	Het
Sorcs2	G	T	5: 36,185,332 (GRCm39)		probably null	Het
Spmip2	T	C	3: 79,313,192 (GRCm39)	S89P	probably damaging	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tmem132d	A	G	5: 128,346,181 (GRCm39)	S114P	probably benign	Het
Tns2	G	A	15: 102,019,846 (GRCm39)	G579R	probably damaging	Het
Usp37	A	T	1: 74,517,295 (GRCm39)		probably null	Het
Vmn1r79	T	C	7: 11,910,448 (GRCm39)	I110T	probably damaging	Het
Vps37a	C	T	8: 40,981,363 (GRCm39)	L69F	probably damaging	Het
Xirp2	T	A	2: 67,338,587 (GRCm39)	I276N	possibly damaging	Het
Zfp946	G	A	17: 22,673,821 (GRCm39)	E192K	probably benign	Het

Other mutations in Ralgapa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00666:Ralgapa2	APN	2	146,327,056 (GRCm39)	missense	possibly damaging	0.61
IGL00915:Ralgapa2	APN	2	146,184,442 (GRCm39)	missense	probably damaging	1.00
IGL01012:Ralgapa2	APN	2	146,263,659 (GRCm39)	missense	possibly damaging	0.95
IGL01018:Ralgapa2	APN	2	146,252,112 (GRCm39)	missense	probably benign	0.00
IGL01018:Ralgapa2	APN	2	146,252,113 (GRCm39)	missense	probably benign	0.02
IGL01902:Ralgapa2	APN	2	146,156,934 (GRCm39)	missense	probably damaging	1.00
IGL02160:Ralgapa2	APN	2	146,190,360 (GRCm39)	splice site	probably benign
IGL02321:Ralgapa2	APN	2	146,254,736 (GRCm39)	nonsense	probably null
IGL02412:Ralgapa2	APN	2	146,254,052 (GRCm39)	missense	probably damaging	0.96
IGL03026:Ralgapa2	APN	2	146,302,695 (GRCm39)	splice site	probably benign
IGL03115:Ralgapa2	APN	2	146,266,734 (GRCm39)	missense	probably damaging	0.99
IGL03256:Ralgapa2	APN	2	146,302,632 (GRCm39)	critical splice donor site	probably null
IGL03379:Ralgapa2	APN	2	146,199,907 (GRCm39)	missense	probably benign	0.01
Chow	UTSW	2	146,188,638 (GRCm39)	nonsense	probably null
purina	UTSW	2	146,175,406 (GRCm39)	missense	probably damaging	1.00
P4748:Ralgapa2	UTSW	2	146,188,731 (GRCm39)	nonsense	probably null
R0012:Ralgapa2	UTSW	2	146,254,672 (GRCm39)	missense	probably benign
R0012:Ralgapa2	UTSW	2	146,254,672 (GRCm39)	missense	probably benign
R0165:Ralgapa2	UTSW	2	146,230,407 (GRCm39)	splice site	probably benign
R0344:Ralgapa2	UTSW	2	146,188,714 (GRCm39)	missense	possibly damaging	0.69
R0402:Ralgapa2	UTSW	2	146,276,729 (GRCm39)	missense	probably damaging	0.98
R0419:Ralgapa2	UTSW	2	146,270,592 (GRCm39)	missense	possibly damaging	0.69
R0638:Ralgapa2	UTSW	2	146,184,112 (GRCm39)	missense	probably benign	0.00
R0704:Ralgapa2	UTSW	2	146,293,704 (GRCm39)	missense	probably damaging	1.00
R0722:Ralgapa2	UTSW	2	146,230,451 (GRCm39)	missense	probably damaging	1.00
R0866:Ralgapa2	UTSW	2	146,277,923 (GRCm39)	missense	probably damaging	1.00
R1065:Ralgapa2	UTSW	2	146,292,478 (GRCm39)	missense	probably benign	0.00
R1212:Ralgapa2	UTSW	2	146,199,902 (GRCm39)	missense	probably benign	0.00
R1395:Ralgapa2	UTSW	2	146,230,420 (GRCm39)	missense	probably damaging	1.00
R1614:Ralgapa2	UTSW	2	146,230,532 (GRCm39)	missense	probably damaging	1.00
R1686:Ralgapa2	UTSW	2	146,199,920 (GRCm39)	missense	probably benign	0.09
R1799:Ralgapa2	UTSW	2	146,184,648 (GRCm39)	missense	probably benign	0.02
R1905:Ralgapa2	UTSW	2	146,229,621 (GRCm39)	missense	probably damaging	1.00
R1956:Ralgapa2	UTSW	2	146,302,679 (GRCm39)	missense	probably benign	0.00
R2144:Ralgapa2	UTSW	2	146,230,524 (GRCm39)	missense	probably damaging	1.00
R2148:Ralgapa2	UTSW	2	146,273,807 (GRCm39)	missense	probably benign	0.02
R2219:Ralgapa2	UTSW	2	146,263,599 (GRCm39)	missense	probably benign	0.09
R2220:Ralgapa2	UTSW	2	146,263,599 (GRCm39)	missense	probably benign	0.09
R2261:Ralgapa2	UTSW	2	146,184,603 (GRCm39)	missense	probably damaging	1.00
R2402:Ralgapa2	UTSW	2	146,195,112 (GRCm39)	missense	probably damaging	1.00
R2495:Ralgapa2	UTSW	2	146,203,320 (GRCm39)	missense	possibly damaging	0.82
R3752:Ralgapa2	UTSW	2	146,263,551 (GRCm39)	missense	possibly damaging	0.94
R3953:Ralgapa2	UTSW	2	146,277,884 (GRCm39)	missense	probably damaging	1.00
R3956:Ralgapa2	UTSW	2	146,277,884 (GRCm39)	missense	probably damaging	1.00
R4177:Ralgapa2	UTSW	2	146,327,083 (GRCm39)	missense	probably damaging	1.00
R4182:Ralgapa2	UTSW	2	146,277,914 (GRCm39)	missense	probably damaging	1.00
R4193:Ralgapa2	UTSW	2	146,184,493 (GRCm39)	missense	probably damaging	1.00
R4332:Ralgapa2	UTSW	2	146,102,288 (GRCm39)	missense	probably benign	0.10
R4507:Ralgapa2	UTSW	2	146,195,168 (GRCm39)	missense	probably benign	0.11
R4574:Ralgapa2	UTSW	2	146,277,919 (GRCm39)	missense	probably damaging	1.00
R4585:Ralgapa2	UTSW	2	146,156,944 (GRCm39)	missense	probably damaging	0.99
R4627:Ralgapa2	UTSW	2	146,203,373 (GRCm39)	missense	possibly damaging	0.88
R4647:Ralgapa2	UTSW	2	146,229,549 (GRCm39)	missense	possibly damaging	0.69
R4677:Ralgapa2	UTSW	2	146,187,387 (GRCm39)	missense	possibly damaging	0.82
R4724:Ralgapa2	UTSW	2	146,187,453 (GRCm39)	missense	possibly damaging	0.46
R4760:Ralgapa2	UTSW	2	146,188,669 (GRCm39)	missense	probably benign	0.00
R4831:Ralgapa2	UTSW	2	146,246,987 (GRCm39)	intron	probably benign
R4962:Ralgapa2	UTSW	2	146,276,754 (GRCm39)	nonsense	probably null
R4993:Ralgapa2	UTSW	2	146,289,231 (GRCm39)	missense	probably damaging	1.00
R5041:Ralgapa2	UTSW	2	146,327,071 (GRCm39)	missense	probably benign	0.00
R5120:Ralgapa2	UTSW	2	146,254,004 (GRCm39)	missense	probably benign	0.26
R5185:Ralgapa2	UTSW	2	146,230,406 (GRCm39)	splice site	probably null
R5393:Ralgapa2	UTSW	2	146,187,375 (GRCm39)	missense	probably damaging	1.00
R5428:Ralgapa2	UTSW	2	146,176,414 (GRCm39)	missense	probably damaging	0.96
R5439:Ralgapa2	UTSW	2	146,184,430 (GRCm39)	missense	probably benign	0.08
R5476:Ralgapa2	UTSW	2	146,289,356 (GRCm39)	missense	probably benign
R5695:Ralgapa2	UTSW	2	146,175,397 (GRCm39)	missense	probably damaging	1.00
R5705:Ralgapa2	UTSW	2	146,291,193 (GRCm39)	missense	probably damaging	1.00
R5718:Ralgapa2	UTSW	2	146,295,326 (GRCm39)	splice site	probably null
R5817:Ralgapa2	UTSW	2	146,175,406 (GRCm39)	missense	probably damaging	1.00
R5877:Ralgapa2	UTSW	2	146,230,489 (GRCm39)	missense	probably damaging	1.00
R5994:Ralgapa2	UTSW	2	146,203,373 (GRCm39)	missense	probably benign	0.00
R6158:Ralgapa2	UTSW	2	146,266,596 (GRCm39)	missense	possibly damaging	0.69
R6169:Ralgapa2	UTSW	2	146,292,385 (GRCm39)	missense	probably damaging	1.00
R6280:Ralgapa2	UTSW	2	146,184,129 (GRCm39)	missense	probably damaging	1.00
R6301:Ralgapa2	UTSW	2	146,169,331 (GRCm39)	missense	possibly damaging	0.94
R6650:Ralgapa2	UTSW	2	146,230,422 (GRCm39)	missense	probably damaging	1.00
R6959:Ralgapa2	UTSW	2	146,184,621 (GRCm39)	missense	probably damaging	0.98
R7020:Ralgapa2	UTSW	2	146,188,638 (GRCm39)	nonsense	probably null
R7035:Ralgapa2	UTSW	2	146,353,777 (GRCm39)	missense	probably damaging	1.00
R7167:Ralgapa2	UTSW	2	146,190,374 (GRCm39)	missense	probably benign
R7186:Ralgapa2	UTSW	2	146,230,406 (GRCm39)	splice site	probably null
R7252:Ralgapa2	UTSW	2	146,184,671 (GRCm39)	critical splice acceptor site	probably null
R7266:Ralgapa2	UTSW	2	146,176,488 (GRCm39)	missense	probably damaging	1.00
R7371:Ralgapa2	UTSW	2	146,189,046 (GRCm39)	missense	probably benign	0.05
R7432:Ralgapa2	UTSW	2	146,276,776 (GRCm39)	missense	probably benign	0.41
R7470:Ralgapa2	UTSW	2	146,266,587 (GRCm39)	missense	probably damaging	1.00
R7663:Ralgapa2	UTSW	2	146,260,335 (GRCm39)	missense	probably benign	0.01
R7780:Ralgapa2	UTSW	2	146,184,334 (GRCm39)	missense	probably benign	0.14
R7973:Ralgapa2	UTSW	2	146,230,481 (GRCm39)	missense	possibly damaging	0.88
R8018:Ralgapa2	UTSW	2	146,182,311 (GRCm39)	missense	probably damaging	1.00
R8063:Ralgapa2	UTSW	2	146,285,775 (GRCm39)	missense	probably damaging	1.00
R8070:Ralgapa2	UTSW	2	146,195,199 (GRCm39)	missense	probably damaging	0.98
R8264:Ralgapa2	UTSW	2	146,175,370 (GRCm39)	missense	possibly damaging	0.90
R8309:Ralgapa2	UTSW	2	146,246,786 (GRCm39)	missense	possibly damaging	0.66
R8409:Ralgapa2	UTSW	2	146,086,897 (GRCm39)	missense
R8474:Ralgapa2	UTSW	2	146,266,750 (GRCm39)	missense	probably damaging	1.00
R8487:Ralgapa2	UTSW	2	146,230,463 (GRCm39)	missense	probably damaging	1.00
R8492:Ralgapa2	UTSW	2	146,184,524 (GRCm39)	missense	possibly damaging	0.50
R8733:Ralgapa2	UTSW	2	146,266,683 (GRCm39)	missense	probably damaging	1.00
R8856:Ralgapa2	UTSW	2	146,184,139 (GRCm39)	missense	probably benign	0.30
R8858:Ralgapa2	UTSW	2	146,102,285 (GRCm39)	critical splice donor site	probably null
R8862:Ralgapa2	UTSW	2	146,266,731 (GRCm39)	missense	probably benign	0.41
R9146:Ralgapa2	UTSW	2	146,184,252 (GRCm39)	missense	probably benign
R9324:Ralgapa2	UTSW	2	146,302,645 (GRCm39)	missense	probably damaging	1.00
R9439:Ralgapa2	UTSW	2	146,254,058 (GRCm39)	missense	probably benign
R9457:Ralgapa2	UTSW	2	146,176,474 (GRCm39)	missense	probably damaging	0.99
RF019:Ralgapa2	UTSW	2	146,203,423 (GRCm39)	missense	possibly damaging	0.53
X0019:Ralgapa2	UTSW	2	146,230,572 (GRCm39)	missense	possibly damaging	0.56
Z1088:Ralgapa2	UTSW	2	146,276,825 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- ACTTAAGGCCTCTTTAATGCCTAG -3'
(R):5'- ATTTCTGTGTCCCAGCATCAGG -3'

Sequencing Primer
(F):5'- TGCCTAGTGCTCAAAATTCCAG -3'
(R):5'- TGGCTCTCCTAGGACATACTGAG -3'

Posted On

2017-07-14