Mutagenetix > Incidental Mutation

Incidental Mutation 'R2495:Ralgapa2'

250925

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

040409-MU

Accession Numbers

Essential gene?

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

Stock #

R2495 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146081799-146354264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 146203320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1091 (D1091E)

Ref Sequence

ENSEMBL: ENSMUSP00000122039 (fasta)

Gene Model

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

AlphaFold

A3KGS3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109986
AA Change: D1129E

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105613
Gene: ENSMUSG00000037110
AA Change: D1129E

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

possibly damaging
Transcript: ENSMUST00000131824
AA Change: D1091E

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122039
Gene: ENSMUSG00000037110
AA Change: D1091E

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

unknown
Transcript: ENSMUST00000146307
AA Change: D117E

SMART Domains

Protein: ENSMUSP00000114547
Gene: ENSMUSG00000037110
AA Change: D117E

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

noncoding transcript
Transcript: ENSMUST00000148784

Predicted Effect

unknown
Transcript: ENSMUST00000149499
AA Change: D761E

SMART Domains

Protein: ENSMUSP00000122017
Gene: ENSMUSG00000037110
AA Change: D761E

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: D1176E

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

Meta Mutation Damage Score

0.0652

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (63/64)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,536,109 (GRCm39)	F125S	unknown	Het
Abhd17c	C	T	7: 83,759,884 (GRCm39)	W290*	probably null	Het
Acsl5	A	T	19: 55,282,031 (GRCm39)	K536*	probably null	Het
Adamts14	A	T	10: 61,034,749 (GRCm39)		probably null	Het
Agbl3	A	G	6: 34,823,699 (GRCm39)	H788R	probably damaging	Het
Agrp	T	C	8: 106,293,408 (GRCm39)	N126D	possibly damaging	Het
Ambn	T	C	5: 88,615,663 (GRCm39)	I349T	probably benign	Het
Ank1	T	C	8: 23,622,280 (GRCm39)	W1610R	probably damaging	Het
Aox3	T	C	1: 58,227,567 (GRCm39)	L1224P	probably damaging	Het
Arhgef28	A	T	13: 98,165,881 (GRCm39)		probably benign	Het
Bcl11b	G	A	12: 107,881,706 (GRCm39)	H798Y	possibly damaging	Het
Capn11	T	A	17: 45,949,689 (GRCm39)	M426L	probably damaging	Het
Cep95	A	G	11: 106,700,108 (GRCm39)	K290E	possibly damaging	Het
Cic	A	G	7: 24,991,201 (GRCm39)		probably benign	Het
Cnbd1	A	T	4: 18,860,579 (GRCm39)	M389K	probably damaging	Het
Cnksr1	A	T	4: 133,959,473 (GRCm39)	L387Q	probably benign	Het
Cntrob	G	T	11: 69,213,749 (GRCm39)	P14T	probably damaging	Het
Crmp1	G	A	5: 37,403,441 (GRCm39)		probably null	Het
Dido1	A	G	2: 180,331,181 (GRCm39)	V89A	probably benign	Het
Dnah7a	T	A	1: 53,645,040 (GRCm39)	I999F	probably damaging	Het
Dsp	T	A	13: 38,377,453 (GRCm39)	L1746Q	possibly damaging	Het
Dst	T	C	1: 34,238,454 (GRCm39)	S3897P	probably damaging	Het
Fbxo10	A	G	4: 45,040,545 (GRCm39)	F887L	probably benign	Het
Gm21961	T	A	15: 64,886,722 (GRCm39)	H11L	unknown	Het
Gm4559	A	T	7: 141,827,557 (GRCm39)	C182S	unknown	Het
Golga3	T	A	5: 110,355,462 (GRCm39)	S939T	probably damaging	Het
Got2	A	G	8: 96,614,918 (GRCm39)	S6P	possibly damaging	Het
Gpatch8	A	T	11: 102,369,307 (GRCm39)	H1410Q	probably damaging	Het
Gpx5	T	A	13: 21,475,610 (GRCm39)	T39S	probably benign	Het
Grin2b	T	C	6: 135,710,180 (GRCm39)	Y1122C	probably damaging	Het
Gsn	A	C	2: 35,193,205 (GRCm39)	N538T	probably damaging	Het
Helz2	A	G	2: 180,874,705 (GRCm39)	S1930P	probably damaging	Het
Krt6b	A	T	15: 101,586,757 (GRCm39)	F286Y	probably damaging	Het
Lrriq1	G	A	10: 103,038,242 (GRCm39)	R854C	probably damaging	Het
Mipol1	A	T	12: 57,507,776 (GRCm39)		probably benign	Het
Mmp19	A	G	10: 128,626,819 (GRCm39)		probably benign	Het
Msc	T	G	1: 14,825,473 (GRCm39)	Y167S	probably benign	Het
Mycbp2	T	G	14: 103,437,554 (GRCm39)	K2103Q	probably damaging	Het
Myh11	C	A	16: 14,023,421 (GRCm39)	D1586Y	probably damaging	Het
Nol6	A	T	4: 41,118,427 (GRCm39)	D791E	probably damaging	Het
Pcm1	A	G	8: 41,746,616 (GRCm39)	T1272A	probably benign	Het
Phgdh	A	G	3: 98,247,105 (GRCm39)	L15P	probably damaging	Het
Ptprk	A	T	10: 28,351,074 (GRCm39)		probably benign	Het
Rbbp8nl	C	A	2: 179,920,895 (GRCm39)	K496N	probably null	Het
Rbm26	T	C	14: 105,388,748 (GRCm39)		probably benign	Het
Rfx6	A	C	10: 51,602,771 (GRCm39)		probably benign	Het
Rras	G	A	7: 44,667,488 (GRCm39)	G17R	probably damaging	Het
Shisa6	G	A	11: 66,108,459 (GRCm39)	P473S	probably damaging	Het
Slc9a3	A	G	13: 74,306,822 (GRCm39)	K316E	probably damaging	Het
Slco1a7	C	A	6: 141,711,503 (GRCm39)	M69I	probably benign	Het
Spata31d1a	A	G	13: 59,849,807 (GRCm39)	S774P	possibly damaging	Het
Spsb4	T	C	9: 96,877,840 (GRCm39)	Y161C	probably damaging	Het
Taf3	G	T	2: 9,957,644 (GRCm39)	N174K	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Trnt1	T	A	6: 106,750,330 (GRCm39)	V78E	possibly damaging	Het
Ubox5	A	T	2: 130,441,441 (GRCm39)	C415*	probably null	Het
Ucn2	C	T	9: 108,815,477 (GRCm39)	P80S	possibly damaging	Het
Vmn2r10	G	A	5: 109,143,961 (GRCm39)	T663I	probably damaging	Het
Wdfy1	A	T	1: 79,685,222 (GRCm39)	F337L	probably null	Het
Zfp287	A	T	11: 62,605,459 (GRCm39)	C483S	probably damaging	Het
Zyg11b	A	G	4: 108,101,921 (GRCm39)		probably null	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
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
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'- AAACGCCTTTCCAGTACCAG -3'
(R):5'- AACCATTGGAATTATGCATCCCC -3'

Sequencing Primer
(F):5'- AGTACCAGTATGTCATCTGATCCTAC -3'
(R):5'- GGAATTATGCATCCCCCGTAC -3'

Posted On

2014-12-04