Mutagenetix > Incidental Mutation

Incidental Mutation 'R5685:Catsperg2'

443280

Institutional Source

Beutler Lab

Gene Symbol

Catsperg2

Ensembl Gene

ENSMUSG00000049123

Gene Name

cation channel sperm associated auxiliary subunit gamma 2

Synonyms

1700067C01Rik, CATSPERG

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R5685 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29697219-29727032 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29701188 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 247 (P247L)

Ref Sequence

ENSEMBL: ENSMUSP00000146472 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061193] [ENSMUST00000207115] [ENSMUST00000208371] [ENSMUST00000208607] [ENSMUST00000209126]

AlphaFold

C6KI89

Predicted Effect

probably damaging
Transcript: ENSMUST00000061193
AA Change: P879L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: P879L

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	2	973	N/A	PFAM
transmembrane domain	1065	1087	N/A	INTRINSIC
low complexity region	1106	1118	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000207115
AA Change: P706L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207483

Predicted Effect

probably damaging
Transcript: ENSMUST00000208371
AA Change: P247L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000208607

Predicted Effect

probably damaging
Transcript: ENSMUST00000209126
AA Change: P879L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	T	A	7: 44,230,550		probably benign	Het
4921501E09Rik	T	A	17: 33,066,772	H352L	probably benign	Het
Abcb5	A	T	12: 118,932,613		probably null	Het
Abcg1	G	T	17: 31,098,286	E191*	probably null	Het
Als2	A	G	1: 59,179,091	Y1263H	possibly damaging	Het
Amer2	T	A	14: 60,379,577	L281*	probably null	Het
Anxa6	T	C	11: 54,996,370	N361D	probably benign	Het
Ap1g1	A	T	8: 109,837,783	N320I	probably damaging	Het
Aqr	T	C	2: 114,156,265	D208G	possibly damaging	Het
Arnt2	T	C	7: 84,263,265	T545A	probably benign	Het
Aspm	G	A	1: 139,487,288	V2701I	probably benign	Het
Atad2	A	G	15: 58,116,798	V106A	possibly damaging	Het
Bbs2	A	C	8: 94,087,433	F186V	probably damaging	Het
Cfap57	G	T	4: 118,569,459	Q1098K	probably benign	Het
Cxcr6	A	G	9: 123,810,746	T271A	probably benign	Het
Dock1	A	G	7: 134,772,362	E579G	probably benign	Het
Frem3	A	G	8: 80,695,303	T2111A	probably damaging	Het
Galnt1	A	T	18: 24,264,529	D229V	possibly damaging	Het
Gbp2b	A	C	3: 142,608,158	M400L	probably benign	Het
Gm1123	T	A	9: 99,009,433		probably null	Het
Gtpbp6	T	C	5: 110,104,939	H349R	probably damaging	Het
Hyal5	A	G	6: 24,876,692	K188R	probably benign	Het
Insrr	T	C	3: 87,800,496		probably null	Het
Kcnn1	A	T	8: 70,852,730	C322S	probably damaging	Het
Kdelr1	GTCTA	G	7: 45,881,617		probably null	Het
Kif23	T	C	9: 61,945,409	T8A	probably benign	Het
Lrrk2	A	T	15: 91,803,301	R2198*	probably null	Het
Mcl1	T	G	3: 95,659,798	D177E	possibly damaging	Het
Mrps11	A	T	7: 78,791,880	T137S	probably benign	Het
Mtbp	A	G	15: 55,562,772	Y90C	probably damaging	Het
Nkpd1	C	T	7: 19,523,573	Q276*	probably null	Het
Nxt1	G	T	2: 148,675,753	W138L	possibly damaging	Het
Olfr1042	T	C	2: 86,159,795	T192A	probably damaging	Het
Olfr1102	T	A	2: 87,002,277	S103T	probably benign	Het
Olfr183	T	A	16: 59,000,346	F220L	probably benign	Het
Osbpl7	C	A	11: 97,060,277	P478H	probably damaging	Het
Pitpna	T	A	11: 75,620,269	F222I	probably damaging	Het
Plekhh2	A	T	17: 84,569,882	R552W	probably damaging	Het
Plxnb2	C	T	15: 89,167,032	R328H	probably damaging	Het
Pmaip1	C	T	18: 66,460,984	T65I	probably benign	Het
Ppil4	T	G	10: 7,798,422	I110S	probably damaging	Het
Prpf38a	A	G	4: 108,570,154		probably null	Het
Psme4	G	A	11: 30,809,837	G320D	probably damaging	Het
Rab17	C	A	1: 90,958,957	R191L	probably benign	Het
Rhag	A	T	17: 40,831,331	M222L	possibly damaging	Het
Rims2	A	T	15: 39,437,206	H111L	possibly damaging	Het
Setx	T	C	2: 29,171,280	Y2234H	probably damaging	Het
Slc2a8	T	C	2: 32,981,789	I51V	possibly damaging	Het
Slc34a1	T	C	13: 55,401,272		probably null	Het
Slf1	T	C	13: 77,083,479	T594A	possibly damaging	Het
Sox6	A	T	7: 115,579,157		probably null	Het
Spata13	C	T	14: 60,691,203	S70L	probably benign	Het
Stard13	A	G	5: 151,063,127	I188T	possibly damaging	Het
Stard9	A	G	2: 120,705,322	D4020G	probably damaging	Het
Tdp1	A	G	12: 99,902,352	K255R	possibly damaging	Het
Tns2	G	T	15: 102,107,103	A124S	probably benign	Het
Top2b	T	A	14: 16,413,666	W1045R	probably damaging	Het
Trav12-2	T	C	14: 53,616,665	V32A	probably damaging	Het
Vps13c	G	T	9: 67,963,173	R3198L	possibly damaging	Het
Wee1	TCCCC	TCCC	7: 110,124,569		probably null	Het
Zfp52	T	A	17: 21,561,751	S620R	probably benign	Het
Zfp62	T	A	11: 49,216,217	C378*	probably null	Het
Zfp638	C	A	6: 83,929,987	P378H	probably damaging	Het

Other mutations in Catsperg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Catsperg2	APN	7	29705404	missense	possibly damaging	0.86
IGL00095:Catsperg2	APN	7	29698058	missense	possibly damaging	0.73
IGL00902:Catsperg2	APN	7	29701143	missense	possibly damaging	0.93
IGL01667:Catsperg2	APN	7	29710133	missense	probably damaging	0.98
IGL01791:Catsperg2	APN	7	29704665	splice site	probably null
IGL01961:Catsperg2	APN	7	29721672	splice site	probably benign
IGL02187:Catsperg2	APN	7	29721366	missense	probably benign	0.02
IGL02605:Catsperg2	APN	7	29719565	missense	possibly damaging	0.71
IGL03001:Catsperg2	APN	7	29725079	missense	probably benign	0.32
IGL03228:Catsperg2	APN	7	29698225	missense	probably damaging	0.96
IGL03239:Catsperg2	APN	7	29697716	missense	probably benign	0.04
IGL03242:Catsperg2	APN	7	29725479	unclassified	probably benign
IGL03247:Catsperg2	APN	7	29717048	missense	possibly damaging	0.71
IGL03256:Catsperg2	APN	7	29709874	missense	probably damaging	0.99
PIT4520001:Catsperg2	UTSW	7	29710161	missense	possibly damaging	0.93
R0052:Catsperg2	UTSW	7	29725020	splice site	probably benign
R0281:Catsperg2	UTSW	7	29706571	missense	possibly damaging	0.86
R0357:Catsperg2	UTSW	7	29714901	missense	possibly damaging	0.93
R0480:Catsperg2	UTSW	7	29721298	missense	probably damaging	0.98
R0578:Catsperg2	UTSW	7	29704691	missense	possibly damaging	0.71
R0732:Catsperg2	UTSW	7	29700696	missense	probably damaging	1.00
R0826:Catsperg2	UTSW	7	29705624	missense	possibly damaging	0.92
R1535:Catsperg2	UTSW	7	29698246	missense	possibly damaging	0.85
R1925:Catsperg2	UTSW	7	29697764	missense	probably benign	0.01
R1990:Catsperg2	UTSW	7	29721045	nonsense	probably null
R3433:Catsperg2	UTSW	7	29701218	missense	possibly damaging	0.71
R3721:Catsperg2	UTSW	7	29705102	missense	probably benign	0.02
R4020:Catsperg2	UTSW	7	29717004	missense	probably damaging	0.99
R4760:Catsperg2	UTSW	7	29705635	missense	probably damaging	0.99
R4829:Catsperg2	UTSW	7	29701125	missense	probably damaging	0.98
R5033:Catsperg2	UTSW	7	29710134	missense	possibly damaging	0.93
R5093:Catsperg2	UTSW	7	29716998	missense	probably benign	0.32
R5266:Catsperg2	UTSW	7	29717066	missense	probably damaging	0.98
R5267:Catsperg2	UTSW	7	29717066	missense	probably damaging	0.98
R5287:Catsperg2	UTSW	7	29697838	missense	possibly damaging	0.96
R5427:Catsperg2	UTSW	7	29714850	missense	possibly damaging	0.71
R5575:Catsperg2	UTSW	7	29705590	missense	possibly damaging	0.84
R5844:Catsperg2	UTSW	7	29697832	missense	possibly damaging	0.96
R5982:Catsperg2	UTSW	7	29713017	missense	possibly damaging	0.51
R6662:Catsperg2	UTSW	7	29719513	start gained	probably benign
R6744:Catsperg2	UTSW	7	29709819	missense	probably benign	0.23
R7171:Catsperg2	UTSW	7	29705325	missense	possibly damaging	0.71
R7239:Catsperg2	UTSW	7	29710082	missense	probably benign	0.00
R7336:Catsperg2	UTSW	7	29706601	missense	possibly damaging	0.83
R7498:Catsperg2	UTSW	7	29717102	missense	possibly damaging	0.71
R7548:Catsperg2	UTSW	7	29709826	missense	probably benign	0.32
R7562:Catsperg2	UTSW	7	29697719	missense	probably benign	0.18
R7565:Catsperg2	UTSW	7	29712981	missense	probably null	0.71
R7600:Catsperg2	UTSW	7	29704858	missense	probably benign	0.32
R8460:Catsperg2	UTSW	7	29705319	missense	possibly damaging	0.92
R8461:Catsperg2	UTSW	7	29705319	missense	possibly damaging	0.92
R8751:Catsperg2	UTSW	7	29705319	missense	possibly damaging	0.92
R8752:Catsperg2	UTSW	7	29705319	missense	possibly damaging	0.92
R8829:Catsperg2	UTSW	7	29697844	missense	probably benign	0.33
R8832:Catsperg2	UTSW	7	29697844	missense	probably benign	0.33
R9264:Catsperg2	UTSW	7	29698188	missense	possibly damaging	0.72
R9284:Catsperg2	UTSW	7	29705581	critical splice donor site	probably null
R9468:Catsperg2	UTSW	7	29710007	critical splice donor site	probably null
Z1177:Catsperg2	UTSW	7	29697782	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGGAGGAAGACATTAGCTTTGTCC -3'
(R):5'- TAGACTGCAGTGTGGCCAAC -3'

Sequencing Primer
(F):5'- CAAAAAGTGCTGGTGCTGTTG -3'
(R):5'- ACCAACCATGCCAGTGGG -3'

Posted On

2016-11-09