Mutagenetix > Incidental Mutation

Incidental Mutation 'R8862:Ralgapa2'

675696

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

068741-MU

Accession Numbers

Essential gene?

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

Stock #

R8862 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146081799-146354264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146266731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 615 (I615T)

Ref Sequence

ENSEMBL: ENSMUSP00000105613 (fasta)

Gene Model

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

AlphaFold

A3KGS3

Predicted Effect

probably benign
Transcript: ENSMUST00000109986
AA Change: I615T

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105613
Gene: ENSMUSG00000037110
AA Change: I615T

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: I615T

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122039
Gene: ENSMUSG00000037110
AA Change: I615T

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: ENSMUSP00000122017
Gene: ENSMUSG00000037110
AA Change: I285T

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: I615T

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	C	T	14: 54,901,172 (GRCm39)	G685R	probably benign	Het
Ahdc1	T	C	4: 132,791,129 (GRCm39)	F790S	possibly damaging	Het
Alg10b	T	C	15: 90,109,893 (GRCm39)	Y69H	probably damaging	Het
Amer3	A	T	1: 34,626,465 (GRCm39)	S235C	probably damaging	Het
Ankfy1	G	T	11: 72,644,469 (GRCm39)	S722I	probably benign	Het
Baz1a	T	C	12: 55,032,624 (GRCm39)		probably benign	Het
Ccdc177	A	G	12: 80,804,208 (GRCm39)	S689P	unknown	Het
Cdh24	C	A	14: 54,869,874 (GRCm39)	R681L	probably damaging	Het
Cdk14	T	G	5: 5,060,862 (GRCm39)	I338L	probably benign	Het
Clec2m	T	C	6: 129,308,494 (GRCm39)	T12A	probably benign	Het
Col18a1	G	T	10: 76,949,044 (GRCm39)	S156*	probably null	Het
Col6a6	T	C	9: 105,663,348 (GRCm39)	Y63C	probably damaging	Het
Cytip	G	A	2: 58,037,887 (GRCm39)	T159M	probably benign	Het
Dnah5	T	C	15: 28,459,502 (GRCm39)		probably benign	Het
Dock3	T	C	9: 106,855,927 (GRCm39)	Y744C	probably damaging	Het
Dop1a	T	C	9: 86,406,404 (GRCm39)		probably null	Het
Dse	A	T	10: 34,029,934 (GRCm39)	D385E	probably damaging	Het
Efhc1	A	C	1: 21,037,573 (GRCm39)	D250A		Het
Epha3	T	A	16: 63,431,348 (GRCm39)	T519S	probably benign	Het
Gas2l3	A	G	10: 89,250,282 (GRCm39)	Y279H	probably damaging	Het
Gatd3a	A	G	10: 78,005,461 (GRCm39)	S35P	probably damaging	Het
Gemin6	G	A	17: 80,535,432 (GRCm39)	V131I	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gnai2	C	A	9: 107,512,326 (GRCm39)	A31S		Het
Greb1l	A	G	18: 10,555,042 (GRCm39)	D1696G	possibly damaging	Het
Itfg2	T	C	6: 128,394,668 (GRCm39)	E35G	probably damaging	Het
Kctd10	A	G	5: 114,503,921 (GRCm39)	F244L	probably damaging	Het
Kif19b	C	A	5: 140,472,534 (GRCm39)	P686Q	probably damaging	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 141,850,333 (GRCm39)		probably benign	Het
Lgals9	G	T	11: 78,860,716 (GRCm39)		probably benign	Het
Lrriq4	A	T	3: 30,705,088 (GRCm39)	N372I	probably damaging	Het
Mical2	A	G	7: 111,910,574 (GRCm39)	N248S	probably damaging	Het
Mipep	T	A	14: 61,080,689 (GRCm39)	C560*	probably null	Het
Myo1a	G	A	10: 127,548,653 (GRCm39)	V396M	probably benign	Het
Myod1	A	G	7: 46,026,487 (GRCm39)	T131A	probably damaging	Het
Nalcn	T	A	14: 123,647,199 (GRCm39)	D558V	possibly damaging	Het
Odf2l	T	A	3: 144,833,758 (GRCm39)		probably benign	Het
Or6d13	G	A	6: 116,518,186 (GRCm39)	M257I	probably benign	Het
Plbd2	A	T	5: 120,624,728 (GRCm39)	M480K	probably damaging	Het
Ppargc1a	A	G	5: 51,631,235 (GRCm39)	F465L	possibly damaging	Het
Ppp1r15b	A	T	1: 133,064,506 (GRCm39)	I659F	probably damaging	Het
Prune2	C	T	19: 17,097,510 (GRCm39)	L1005F	probably benign	Het
Pter	T	C	2: 12,985,341 (GRCm39)	S224P	probably damaging	Het
Ror1	T	C	4: 100,191,715 (GRCm39)		probably null	Het
Rps2	A	G	17: 24,940,662 (GRCm39)	T259A	probably benign	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
S1pr4	G	A	10: 81,334,533 (GRCm39)	R314C	probably damaging	Het
Sema4f	A	T	6: 82,891,081 (GRCm39)	H575Q	probably benign	Het
Son	A	G	16: 91,453,734 (GRCm39)	D827G	probably damaging	Het
Sox8	A	T	17: 25,787,045 (GRCm39)	H219Q	possibly damaging	Het
Spink2	C	T	5: 77,357,615 (GRCm39)	D24N	probably benign	Het
Stard9	A	G	2: 120,534,099 (GRCm39)	D3452G	probably benign	Het
Syngr2	G	T	11: 117,703,507 (GRCm39)	D108Y	probably damaging	Het
Tardbp	G	A	4: 148,702,755 (GRCm39)	S403L	possibly damaging	Het
Tomm70a	T	C	16: 56,942,546 (GRCm39)	S108P	probably benign	Het
Ttc12	T	C	9: 49,351,515 (GRCm39)	T661A	probably benign	Het
Tubgcp6	A	G	15: 89,006,824 (GRCm39)	V66A	probably benign	Het
Unc13b	T	A	4: 43,235,207 (GRCm39)	L477Q	probably damaging	Het
Vmn1r77	T	A	7: 11,776,060 (GRCm39)	C279S	probably benign	Het
Vmn2r79	T	C	7: 86,645,712 (GRCm39)	S14P	probably benign	Het
Zan	T	C	5: 137,472,674 (GRCm39)	T72A	probably benign	Het
Zcchc2	A	G	1: 105,958,998 (GRCm39)	*1156W	probably null	Het
Zfp354c	A	T	11: 50,708,718 (GRCm39)	D26E	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
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
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'- AGGTCCACACATGAGCACTC -3'
(R):5'- AGCAGTGTTAGCCATGGAC -3'

Sequencing Primer
(F):5'- ATGAGCACTCTCTCACCCGG -3'
(R):5'- AGCAGTGTTAGCCATGGACTTTAG -3'

Posted On

2021-07-15