Mutagenetix > Incidental Mutation

Incidental Mutation 'R7973:Ralgapa2'

650696

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

046016-MU

Accession Numbers

Essential gene?

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

Stock #

R7973 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146081799-146354264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146230481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 981 (N981I)

Ref Sequence

ENSEMBL: ENSMUSP00000105613 (fasta)

Gene Model

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

AlphaFold

A3KGS3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109986
AA Change: N981I

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105613
Gene: ENSMUSG00000037110
AA Change: N981I

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: N943I

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122039
Gene: ENSMUSG00000037110
AA Change: N943I

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

probably benign
Transcript: ENSMUST00000146307

SMART Domains

Protein: ENSMUSP00000114547
Gene: ENSMUSG00000037110

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

probably damaging
Transcript: ENSMUST00000149499
AA Change: N613I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122017
Gene: ENSMUSG00000037110
AA Change: N613I

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: N1028I

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (53/54)

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
2210016L21Rik	A	G	5: 115,084,112 (GRCm39)	D76G	probably benign	Het
Abcg1	T	C	17: 31,323,132 (GRCm39)	V237A	probably damaging	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Akap11	A	T	14: 78,752,506 (GRCm39)	H122Q		Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Arhgef4	C	T	1: 34,763,518 (GRCm39)	R925W	possibly damaging	Het
Arid1a	C	T	4: 133,480,381 (GRCm39)	G181D	probably damaging	Het
Ash1l	T	A	3: 88,960,164 (GRCm39)	S2299T	probably benign	Het
Atf7ip	C	T	6: 136,538,062 (GRCm39)	Q432*	probably null	Het
B430306N03Rik	T	A	17: 48,623,483 (GRCm39)	S10T	probably benign	Het
Bckdk	A	G	7: 127,505,539 (GRCm39)	I221V	probably benign	Het
Brinp2	T	C	1: 158,074,057 (GRCm39)	Y688C	probably damaging	Het
Caml	C	T	13: 55,779,784 (GRCm39)	L286F	probably benign	Het
Ccdc125	C	T	13: 100,806,331 (GRCm39)		probably benign	Het
Cdh24	A	T	14: 54,876,477 (GRCm39)	V116E	possibly damaging	Het
Cenpe	T	A	3: 134,929,011 (GRCm39)	I305N	probably damaging	Het
Cep41	C	T	6: 30,680,130 (GRCm39)	G33S	probably damaging	Het
Clec4b2	A	T	6: 123,181,148 (GRCm39)	I178L	probably benign	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dapk1	T	A	13: 60,909,377 (GRCm39)	L1330Q	probably damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Fmnl1	G	T	11: 103,061,984 (GRCm39)		probably benign	Het
Galk1	A	G	11: 115,903,435 (GRCm39)	F24L	possibly damaging	Het
Hyal4	T	A	6: 24,755,785 (GRCm39)	M1K	probably null	Het
Ighe	T	C	12: 113,236,677 (GRCm39)	T64A		Het
Iqch	A	G	9: 63,432,228 (GRCm39)	I389T	possibly damaging	Het
Ism2	G	T	12: 87,333,769 (GRCm39)	T92K	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Kdm1b	T	C	13: 47,230,922 (GRCm39)	S650P	probably benign	Het
Mapkapk5	T	G	5: 121,663,776 (GRCm39)	N426T	possibly damaging	Het
Mroh5	G	T	15: 73,664,614 (GRCm39)	Y90*	probably null	Het
Ncan	T	G	8: 70,550,225 (GRCm39)	I1184L	probably benign	Het
Nectin3	T	C	16: 46,216,484 (GRCm39)	T439A	probably benign	Het
Neo1	G	T	9: 58,897,476 (GRCm39)	A160E	probably damaging	Het
Nosip	T	C	7: 44,726,784 (GRCm39)	S295P	possibly damaging	Het
Nup205	T	A	6: 35,222,274 (GRCm39)	F1979L	probably benign	Het
Nxpe2	A	T	9: 48,231,168 (GRCm39)	D400E	probably damaging	Het
Or4a73	T	A	2: 89,421,331 (GRCm39)	I43F	probably damaging	Het
Pfkfb4	G	A	9: 108,854,179 (GRCm39)	R351Q	probably damaging	Het
Psg29	T	C	7: 16,944,462 (GRCm39)	I324T	probably benign	Het
Ptprh	G	T	7: 4,583,887 (GRCm39)	T235N	possibly damaging	Het
Ralgps1	T	C	2: 33,036,651 (GRCm39)	Y421C	probably damaging	Het
Sf3b3	T	C	8: 111,542,922 (GRCm39)	E845G	possibly damaging	Het
Sgk1	G	T	10: 21,870,054 (GRCm39)	S31I	probably benign	Het
Sim1	T	G	10: 50,857,419 (GRCm39)	Y390D	probably damaging	Het
Slain2	T	A	5: 73,112,779 (GRCm39)	Y271*	probably null	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Stab1	A	T	14: 30,881,590 (GRCm39)		probably null	Het
Supv3l1	A	T	10: 62,285,202 (GRCm39)	L88Q	probably damaging	Het
Syt2	C	A	1: 134,668,570 (GRCm39)		probably null	Het
Tpr	C	T	1: 150,279,638 (GRCm39)	R256C	probably damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Usp32	A	G	11: 84,913,634 (GRCm39)	I899T	probably damaging	Het
Usp6nl	G	T	2: 6,413,762 (GRCm39)	R96M	probably damaging	Het
Vmn1r75	A	G	7: 11,614,961 (GRCm39)	D231G	probably benign	Het
Vmn2r42	T	C	7: 8,197,872 (GRCm39)	E249G	probably benign	Het
Zbtb34	C	T	2: 33,301,531 (GRCm39)	G337R	probably benign	Het
Zfp457	T	A	13: 67,441,882 (GRCm39)	H231L	probably benign	Het
Zfp715	C	T	7: 42,949,321 (GRCm39)	G213D	possibly damaging	Het
Zfp760	T	G	17: 21,941,084 (GRCm39)	H86Q	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
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'- GGACTAAATGAAATAACTCTCAGGC -3'
(R):5'- AATCTTCACATGATCACCCCATTGTAC -3'

Sequencing Primer
(F):5'- ATAACTCTCAGGCATTTAGTAAAGC -3'
(R):5'- CTTGTTGGGCATTCAATTTGAAAG -3'

Posted On

2020-09-15