Mutagenetix > Incidental Mutation

Incidental Mutation 'R8798:Trpc2'

671372

Institutional Source

Beutler Lab

Gene Symbol

Trpc2

Ensembl Gene

ENSMUSG00000100254

Gene Name

transient receptor potential cation channel, subfamily C, member 2

Synonyms

Trrp2, TRPC2a, 3010009O07Rik, mTrp2, trp2, TRPC2b

MMRRC Submission

068724-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8798 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101732323-101745603 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 101733767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 239 (R239G)

Ref Sequence

ENSEMBL: ENSMUSP00000116934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084843] [ENSMUST00000094130] [ENSMUST00000106950] [ENSMUST00000123372] [ENSMUST00000124189] [ENSMUST00000139104] [ENSMUST00000142629]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084843
AA Change: R613G

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000081903
Gene: ENSMUSG00000070425
AA Change: R613G

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	150	1.4e-54	PFAM
low complexity region	254	267	N/A	INTRINSIC
low complexity region	275	280	N/A	INTRINSIC
low complexity region	297	311	N/A	INTRINSIC
low complexity region	345	362	N/A	INTRINSIC
low complexity region	403	415	N/A	INTRINSIC
low complexity region	416	428	N/A	INTRINSIC
ANK	439	469	1.58e3	SMART
low complexity region	484	496	N/A	INTRINSIC
ANK	522	551	1.74e0	SMART
Pfam:TRP_2	557	619	1e-24	PFAM
Pfam:Ion_trans	716	1024	1.7e-24	PFAM
Pfam:PKD_channel	774	1019	2.4e-12	PFAM
low complexity region	1070	1081	N/A	INTRINSIC
low complexity region	1093	1104	N/A	INTRINSIC
coiled coil region	1122	1162	N/A	INTRINSIC
low complexity region	1220	1236	N/A	INTRINSIC
low complexity region	1247	1263	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094130

SMART Domains

Protein: ENSMUSP00000091680
Gene: ENSMUSG00000099481

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	152	5.2e-29	PFAM
low complexity region	254	267	N/A	INTRINSIC
low complexity region	275	280	N/A	INTRINSIC
low complexity region	297	311	N/A	INTRINSIC
internal_repeat_1	324	345	2.69e-6	PROSPERO
low complexity region	346	379	N/A	INTRINSIC
internal_repeat_1	380	401	2.69e-6	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000106950

SMART Domains

Protein: ENSMUSP00000102563
Gene: ENSMUSG00000099481

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	152	5.2e-29	PFAM
low complexity region	254	267	N/A	INTRINSIC
low complexity region	275	280	N/A	INTRINSIC
low complexity region	297	311	N/A	INTRINSIC
internal_repeat_1	324	345	2.69e-6	PROSPERO
low complexity region	346	379	N/A	INTRINSIC
internal_repeat_1	380	401	2.69e-6	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000123372

SMART Domains

Protein: ENSMUSP00000121068
Gene: ENSMUSG00000070425

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	152	5.2e-29	PFAM
low complexity region	254	267	N/A	INTRINSIC
low complexity region	275	280	N/A	INTRINSIC
low complexity region	297	311	N/A	INTRINSIC
internal_repeat_1	324	345	2.69e-6	PROSPERO
low complexity region	346	379	N/A	INTRINSIC
internal_repeat_1	380	401	2.69e-6	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000124189
AA Change: R239G

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116934
Gene: ENSMUSG00000100254
AA Change: R239G

Domain	Start	End	E-Value	Type
low complexity region	29	41	N/A	INTRINSIC
low complexity region	42	54	N/A	INTRINSIC
ANK	65	95	1.58e3	SMART
low complexity region	110	122	N/A	INTRINSIC
ANK	148	177	1.74e0	SMART
Pfam:TRP_2	183	245	9.1e-29	PFAM
transmembrane domain	345	367	N/A	INTRINSIC
Pfam:PKD_channel	398	645	1.4e-12	PFAM
Pfam:Ion_trans	422	638	1e-31	PFAM
low complexity region	696	707	N/A	INTRINSIC
low complexity region	719	730	N/A	INTRINSIC
coiled coil region	748	788	N/A	INTRINSIC
low complexity region	846	862	N/A	INTRINSIC
low complexity region	873	889	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139104

SMART Domains

Protein: ENSMUSP00000122430
Gene: ENSMUSG00000070425

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	62	3.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142629

Predicted Effect

probably benign
Transcript: ENSMUST00000155078

SMART Domains

Protein: ENSMUSP00000123466
Gene: ENSMUSG00000070425

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	62	4.4e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (74/74)

MGI Phenotype

PHENOTYPE: Homozygous null mice exhibit altered sexual and social behavior, including intermale mounting and a lack of aggressive behavior in the presence of invading males. Homozygotes for another allele show increased triglyceride levels in both males and femalesand increased cholesterol in males. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	G	A	8: 79,937,380 (GRCm39)	R176*	probably null	Het
4921539E11Rik	A	C	4: 103,123,574 (GRCm39)		probably benign	Het
Abcc2	A	G	19: 43,797,105 (GRCm39)	N492S	probably benign	Het
Acox1	T	C	11: 116,065,183 (GRCm39)	Y624C	probably damaging	Het
Aff4	T	C	11: 53,291,335 (GRCm39)		probably benign	Het
Ak9	T	A	10: 41,258,847 (GRCm39)	D781E		Het
Arfgef3	T	C	10: 18,522,799 (GRCm39)	D409G	probably damaging	Het
Arhgef18	T	A	8: 3,414,645 (GRCm39)	Y8N	probably benign	Het
Blnk	A	G	19: 40,950,795 (GRCm39)	Y119H	probably damaging	Het
Brsk2	T	C	7: 141,541,601 (GRCm39)	L310P	probably damaging	Het
Cgas	G	A	9: 78,350,348 (GRCm39)	R5C	probably benign	Het
Cit	T	A	5: 116,107,102 (GRCm39)	L1078Q	probably damaging	Het
Cpn1	A	T	19: 43,974,675 (GRCm39)	V18D	possibly damaging	Het
Csmd3	A	T	15: 47,595,382 (GRCm39)	Y1115N		Het
Dnah9	A	C	11: 65,796,057 (GRCm39)	V3589G	probably damaging	Het
Dpp9	T	C	17: 56,506,037 (GRCm39)	Y454C	probably damaging	Het
Eif3i	A	G	4: 129,490,717 (GRCm39)	V67A	probably benign	Het
Eif6	T	C	2: 155,664,886 (GRCm39)	N200S	probably damaging	Het
Fbxo10	T	C	4: 45,051,605 (GRCm39)	H502R	possibly damaging	Het
Fcer1a	A	G	1: 173,053,047 (GRCm39)	Y50H	probably benign	Het
Filip1	G	A	9: 79,727,372 (GRCm39)	H416Y	possibly damaging	Het
Frmpd1	A	T	4: 45,285,424 (GRCm39)	N1415I	possibly damaging	Het
Gdpgp1	C	T	7: 79,888,725 (GRCm39)	P252L	probably damaging	Het
Gsap	T	C	5: 21,476,248 (GRCm39)		probably null	Het
Hgs	T	C	11: 120,370,938 (GRCm39)	V598A	probably benign	Het
Irf2	G	T	8: 47,260,349 (GRCm39)	V94L	probably benign	Het
Kalrn	G	T	16: 33,803,225 (GRCm39)	H2675Q	possibly damaging	Het
Klhl33	C	A	14: 51,130,565 (GRCm39)	A50S	possibly damaging	Het
Klk1b11	T	C	7: 43,645,372 (GRCm39)	I15T	probably benign	Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Lrrn3	A	G	12: 41,503,174 (GRCm39)	M381T	possibly damaging	Het
Ltbr	A	G	6: 125,284,258 (GRCm39)	Y395H	probably benign	Het
Ltf	A	G	9: 110,852,828 (GRCm39)		probably benign	Het
Ly75	A	G	2: 60,154,270 (GRCm39)	F1059S	probably benign	Het
Lypd6	T	A	2: 50,078,774 (GRCm39)	I90N	possibly damaging	Het
Map1a	G	A	2: 121,132,768 (GRCm39)	V1195M	probably benign	Het
Mroh2b	A	T	15: 4,978,191 (GRCm39)	I1320F	probably damaging	Het
Mug2	A	G	6: 122,058,569 (GRCm39)	T1324A	probably damaging	Het
Mylk	G	A	16: 34,719,772 (GRCm39)	V562M	possibly damaging	Het
Myo15b	G	A	11: 115,754,232 (GRCm39)	G911R		Het
Neo1	A	G	9: 58,820,449 (GRCm39)	Y825H	probably damaging	Het
Nfat5	T	G	8: 108,074,321 (GRCm39)	V343G	probably damaging	Het
Nlrp2	A	T	7: 5,330,887 (GRCm39)	I503K	possibly damaging	Het
Or10d5	G	A	9: 39,862,013 (GRCm39)	T18I	probably benign	Het
Or13d1	C	A	4: 52,970,790 (GRCm39)	H56Q	possibly damaging	Het
Or5k16	A	T	16: 58,736,307 (GRCm39)	D232E	probably benign	Het
Or8d2	G	A	9: 38,760,213 (GRCm39)	E268K	probably benign	Het
Pdcl2	T	C	5: 76,472,947 (GRCm39)	D7G	probably damaging	Het
Phyh	C	T	2: 4,923,893 (GRCm39)	R5C	probably damaging	Het
Prr11	A	C	11: 86,996,881 (GRCm39)	S28A	unknown	Het
Psmd13	T	A	7: 140,477,663 (GRCm39)	L190*	probably null	Het
Ptx4	A	G	17: 25,343,716 (GRCm39)	D322G	probably damaging	Het
Rnf40	T	C	7: 127,188,954 (GRCm39)	L109P	probably damaging	Het
Rrp1	T	C	10: 78,245,024 (GRCm39)	T102A	probably damaging	Het
Sema4a	T	G	3: 88,344,004 (GRCm39)	D749A	possibly damaging	Het
Serpina3f	A	T	12: 104,183,702 (GRCm39)	D188V	probably benign	Het
Smarca5	C	A	8: 81,443,137 (GRCm39)	A570S	probably damaging	Het
Spocd1	G	C	4: 129,823,997 (GRCm39)		probably null	Het
Stard9	G	A	2: 120,535,212 (GRCm39)	G3823D	probably benign	Het
Suco	A	G	1: 161,648,004 (GRCm39)	L1094S	probably damaging	Het
Tcf7	T	C	11: 52,151,421 (GRCm39)	D79G	probably damaging	Het
Tdrd12	A	G	7: 35,228,605 (GRCm39)	M39T	probably damaging	Het
Thnsl1	A	G	2: 21,217,209 (GRCm39)	N321S	probably benign	Het
Tmem132c	T	A	5: 127,437,217 (GRCm39)	Y235*	probably null	Het
Tnfaip6	T	C	2: 51,933,824 (GRCm39)	F60L	probably benign	Het
Tnpo3	T	C	6: 29,572,620 (GRCm39)	I411V	probably benign	Het
Trio	A	C	15: 27,851,923 (GRCm39)	V856G	possibly damaging	Het
Ttn	C	T	2: 76,656,476 (GRCm39)	V12502I	unknown	Het
Usf3	A	G	16: 44,040,536 (GRCm39)	D1672G	probably damaging	Het
Usp24	A	G	4: 106,236,436 (GRCm39)	N1011S	probably benign	Het
Vac14	A	G	8: 111,446,519 (GRCm39)	E756G	probably benign	Het
Vmn2r41	A	G	7: 8,164,522 (GRCm39)	L10P	probably damaging	Het
Xrcc5	T	C	1: 72,353,337 (GRCm39)	M115T	probably damaging	Het
Zfp1006	G	A	8: 129,945,779 (GRCm39)	H349Y	probably damaging	Het
Zfp827	G	A	8: 79,916,463 (GRCm39)		probably benign	Het
Zmym1	A	T	4: 126,943,664 (GRCm39)	N241K	possibly damaging	Het

Other mutations in Trpc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0443:Trpc2	UTSW	7	101,742,727 (GRCm39)	splice site	probably benign
R0601:Trpc2	UTSW	7	101,733,572 (GRCm39)	missense	possibly damaging	0.53
R1303:Trpc2	UTSW	7	101,737,368 (GRCm39)	missense	probably damaging	1.00
R1493:Trpc2	UTSW	7	101,739,783 (GRCm39)	missense	probably damaging	0.97
R1579:Trpc2	UTSW	7	101,733,447 (GRCm39)	missense	probably damaging	0.99
R1829:Trpc2	UTSW	7	101,733,326 (GRCm39)	missense	probably damaging	1.00
R2010:Trpc2	UTSW	7	101,743,780 (GRCm39)	missense	probably benign
R3103:Trpc2	UTSW	7	101,744,441 (GRCm39)	missense	possibly damaging	0.74
R3738:Trpc2	UTSW	7	101,733,711 (GRCm39)	missense	probably damaging	1.00
R3739:Trpc2	UTSW	7	101,733,711 (GRCm39)	missense	probably damaging	1.00
R3938:Trpc2	UTSW	7	101,742,781 (GRCm39)	missense	probably damaging	1.00
R3945:Trpc2	UTSW	7	101,737,486 (GRCm39)	missense	possibly damaging	0.52
R3951:Trpc2	UTSW	7	101,742,781 (GRCm39)	missense	probably damaging	1.00
R3970:Trpc2	UTSW	7	101,733,531 (GRCm39)	missense	probably damaging	1.00
R4035:Trpc2	UTSW	7	101,733,711 (GRCm39)	missense	probably damaging	1.00
R4234:Trpc2	UTSW	7	101,737,342 (GRCm39)	missense	possibly damaging	0.52
R4329:Trpc2	UTSW	7	101,736,727 (GRCm39)	missense	probably damaging	1.00
R4531:Trpc2	UTSW	7	101,745,205 (GRCm39)	missense	probably damaging	1.00
R4857:Trpc2	UTSW	7	101,733,176 (GRCm39)	missense	probably benign	0.18
R5058:Trpc2	UTSW	7	101,738,316 (GRCm39)	missense	probably damaging	1.00
R5093:Trpc2	UTSW	7	101,744,390 (GRCm39)	missense	probably benign
R5485:Trpc2	UTSW	7	101,744,420 (GRCm39)	frame shift	probably null
R5486:Trpc2	UTSW	7	101,744,420 (GRCm39)	frame shift	probably null
R5487:Trpc2	UTSW	7	101,744,420 (GRCm39)	frame shift	probably null
R5782:Trpc2	UTSW	7	101,733,186 (GRCm39)	missense	possibly damaging	0.85
R6379:Trpc2	UTSW	7	101,745,298 (GRCm39)	nonsense	probably null
R6572:Trpc2	UTSW	7	101,739,213 (GRCm39)	missense	probably damaging	1.00
R6674:Trpc2	UTSW	7	101,745,264 (GRCm39)	missense	probably benign	0.36
R7513:Trpc2	UTSW	7	101,739,275 (GRCm39)	missense	probably damaging	0.99
R7962:Trpc2	UTSW	7	101,738,388 (GRCm39)	missense	probably benign	0.05
R8209:Trpc2	UTSW	7	101,737,482 (GRCm39)	missense	possibly damaging	0.93
R8226:Trpc2	UTSW	7	101,737,482 (GRCm39)	missense	possibly damaging	0.93
R8990:Trpc2	UTSW	7	101,745,195 (GRCm39)	missense	probably benign	0.01
R9124:Trpc2	UTSW	7	101,745,090 (GRCm39)	missense	possibly damaging	0.76
R9186:Trpc2	UTSW	7	101,737,492 (GRCm39)	missense	probably damaging	1.00
R9330:Trpc2	UTSW	7	101,739,764 (GRCm39)	missense	probably benign	0.35
R9364:Trpc2	UTSW	7	101,739,819 (GRCm39)	missense	possibly damaging	0.89
R9391:Trpc2	UTSW	7	101,745,067 (GRCm39)	missense	probably damaging	1.00
R9644:Trpc2	UTSW	7	101,744,439 (GRCm39)	missense	possibly damaging	0.92
RF020:Trpc2	UTSW	7	101,745,433 (GRCm39)	missense	unknown
Z1176:Trpc2	UTSW	7	101,744,504 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGCCCAGCTGCTTATGGAC -3'
(R):5'- TTCTTAAAACAAGAGGCTCCATCC -3'

Sequencing Primer
(F):5'- TTATGGACCAGGGCCATACCATTG -3'
(R):5'- TCCTGTCCCAGTGCAAC -3'

Posted On

2021-04-30