Mutagenetix > Incidental Mutation

Incidental Mutation 'R8070:Ralgapa2'

620210

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

067505-MU

Accession Numbers

Essential gene?

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

Stock #

R8070 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146081799-146354264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146195199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 1195 (R1195S)

Ref Sequence

ENSEMBL: ENSMUSP00000105613 (fasta)

Gene Model

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

AlphaFold

A3KGS3

Predicted Effect

probably damaging
Transcript: ENSMUST00000109986
AA Change: R1195S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105613
Gene: ENSMUSG00000037110
AA Change: R1195S

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 damaging
Transcript: ENSMUST00000131824
AA Change: R1157S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122039
Gene: ENSMUSG00000037110
AA Change: R1157S

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

SMART Domains

Protein: ENSMUSP00000114547
Gene: ENSMUSG00000037110
AA Change: R183S

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
low complexity region	285	290	N/A	INTRINSIC
Pfam:Rap_GAP	690	830	4.9e-39	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122017
Gene: ENSMUSG00000037110
AA Change: R827S

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

probably damaging
Transcript: ENSMUST00000228797
AA Change: R1242S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 64,055,510 (GRCm39)	E82G	probably benign	Het
9830107B12Rik	A	G	17: 48,452,681 (GRCm39)	F86S	probably damaging	Het
Aamdc	A	T	7: 97,224,855 (GRCm39)	Y2*	probably null	Het
Acta1	T	A	8: 124,620,360 (GRCm39)	D26V	possibly damaging	Het
Adra1d	A	C	2: 131,403,502 (GRCm39)	L196R	probably damaging	Het
Agbl2	G	A	2: 90,621,909 (GRCm39)	C132Y	probably benign	Het
Amd1	A	G	10: 40,170,226 (GRCm39)	V92A	probably benign	Het
Arid4b	T	A	13: 14,310,844 (GRCm39)	I149K	probably benign	Het
Atg7	A	G	6: 114,674,041 (GRCm39)	M312V	probably benign	Het
Bap1	T	A	14: 30,978,643 (GRCm39)	V381E	probably damaging	Het
Cbfa2t3	C	T	8: 123,369,720 (GRCm39)	V207I	possibly damaging	Het
Cdh24	T	C	14: 54,870,030 (GRCm39)	Q629R	probably benign	Het
Cdhr2	G	T	13: 54,867,606 (GRCm39)	V479L	probably benign	Het
Chd2	A	G	7: 73,101,506 (GRCm39)	S1407P	probably benign	Het
Clstn2	A	G	9: 97,681,523 (GRCm39)	V39A	possibly damaging	Het
Cwh43	T	A	5: 73,578,806 (GRCm39)	M357K	possibly damaging	Het
Dcdc2a	T	A	13: 25,386,180 (GRCm39)	D351E	probably benign	Het
Dennd6b	T	C	15: 89,069,576 (GRCm39)	I517V	probably benign	Het
Dnah17	T	C	11: 117,915,497 (GRCm39)	E4374G	probably damaging	Het
Emsy	A	G	7: 98,275,922 (GRCm39)	S336P	possibly damaging	Het
Enoph1	A	T	5: 100,208,841 (GRCm39)	E65D	probably benign	Het
Fam83f	T	A	15: 80,556,281 (GRCm39)	L55Q	probably damaging	Het
Fry	T	C	5: 150,401,472 (GRCm39)	F379L		Het
Fscb	A	T	12: 64,521,382 (GRCm39)	M28K	probably benign	Het
Gas7	G	A	11: 67,574,260 (GRCm39)	V412M	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gcn1	T	A	5: 115,727,057 (GRCm39)	V638E	probably benign	Het
Ggt1	A	T	10: 75,414,733 (GRCm39)	I184F	probably damaging	Het
Gigyf2	A	G	1: 87,368,629 (GRCm39)	N1103S	probably benign	Het
Gm5592	G	A	7: 40,935,887 (GRCm39)	A130T	possibly damaging	Het
Gys2	T	C	6: 142,394,230 (GRCm39)		probably null	Het
Hmcn1	C	A	1: 150,525,743 (GRCm39)	E3327*	probably null	Het
Ighv1-36	C	T	12: 114,843,656 (GRCm39)	G68E	probably damaging	Het
Igkv6-32	G	A	6: 70,051,089 (GRCm39)	T89M	probably damaging	Het
Ipo7	A	G	7: 109,652,014 (GRCm39)	D931G	probably benign	Het
Jakmip1	A	G	5: 37,330,631 (GRCm39)	E437G	probably benign	Het
Lingo3	C	T	10: 80,671,955 (GRCm39)		probably benign	Het
Lnpep	A	G	17: 17,758,900 (GRCm39)	S815P	probably damaging	Het
Ly6a	T	C	15: 74,869,449 (GRCm39)	D2G	probably damaging	Het
Madd	C	A	2: 90,988,359 (GRCm39)	E1223*	probably null	Het
Mapk8ip3	A	T	17: 25,120,078 (GRCm39)		probably null	Het
Mecom	T	C	3: 30,033,987 (GRCm39)	E239G	probably damaging	Het
Mug1	T	C	6: 121,852,838 (GRCm39)	V889A	probably benign	Het
Myo18b	T	A	5: 112,938,986 (GRCm39)	N1675I	probably benign	Het
Ndrg4	T	C	8: 96,426,756 (GRCm39)	F50L	possibly damaging	Het
Ndst4	A	G	3: 125,508,293 (GRCm39)	Y286C	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Olfm3	A	G	3: 114,895,604 (GRCm39)	D195G	probably damaging	Het
Or2y14	A	T	11: 49,404,941 (GRCm39)	T159S	probably damaging	Het
Or4p21	G	T	2: 88,277,003 (GRCm39)	T93K	probably benign	Het
Pds5a	A	G	5: 65,809,741 (GRCm39)	L407P	possibly damaging	Het
Pgm2	A	G	5: 64,269,425 (GRCm39)	N504S	probably benign	Het
Plce1	A	G	19: 38,690,283 (GRCm39)	M656V	probably damaging	Het
Pou6f2	T	C	13: 18,414,209 (GRCm39)	T189A	unknown	Het
Ppp1r12b	T	C	1: 134,803,807 (GRCm39)	S451G	probably benign	Het
Prox1	T	G	1: 189,893,107 (GRCm39)	N446T	probably damaging	Het
Rere	A	G	4: 150,701,832 (GRCm39)	D37G	probably damaging	Het
Tfip11	T	A	5: 112,482,796 (GRCm39)	M560K	possibly damaging	Het
Thop1	T	C	10: 80,915,320 (GRCm39)	V260A	probably damaging	Het
Tle6	A	G	10: 81,434,476 (GRCm39)	M41T	possibly damaging	Het
Trav13d-4	T	C	14: 53,995,249 (GRCm39)	S68P	possibly damaging	Het
Trim24	A	G	6: 37,934,661 (GRCm39)	N826S	probably damaging	Het
Tuba3a	T	C	6: 125,255,433 (GRCm39)	E414G	probably damaging	Het
Vmn2r78	A	G	7: 86,571,695 (GRCm39)	I502V	probably benign	Het
Vmn2r79	A	T	7: 86,651,336 (GRCm39)	Y245F	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
R6048:Ralgapa2	UTSW	2	146,276,765 (GRCm39)	missense	possibly damaging	0.46
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
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'- ACCTGGTTAAAATCCTAGGAGAGC -3'
(R):5'- TCCTGAAAACTAGCCCACTG -3'

Sequencing Primer
(F):5'- CCTAGTCCTGCAGTGACTGATG -3'
(R):5'- AACTAGCCCACTGGAAGTTCTTTG -3'

Posted On

2020-01-23