Mutagenetix > Incidental Mutation

Incidental Mutation 'R8751:Catsperg2'

663845

Institutional Source

Beutler Lab

Gene Symbol

Catsperg2

Ensembl Gene

ENSMUSG00000049123

Gene Name

cation channel sperm associated auxiliary subunit gamma 2

Synonyms

1700067C01Rik, CATSPERG

MMRRC Submission

068594-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R8751 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29697219-29727032 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29705319 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 773 (D773G)

Ref Sequence

ENSEMBL: ENSMUSP00000147099 (fasta)

Gene Model

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

AlphaFold

C6KI89

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061193
AA Change: D773G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: D773G

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

possibly damaging
Transcript: ENSMUST00000207115
AA Change: D600G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208371
AA Change: D141G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208607
AA Change: D773G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209126
AA Change: D773G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	A	15: 11,215,727 (GRCm38)	I278N	probably damaging	Het
Adcy9	A	G	16: 4,311,628 (GRCm38)	W702R	probably damaging	Het
Adgrf5	G	A	17: 43,437,683 (GRCm38)	V468I	possibly damaging	Het
Ahnak	A	C	19: 9,010,145 (GRCm38)	K2931T	probably damaging	Het
Ank3	C	T	10: 69,926,019 (GRCm38)		probably benign	Het
Birc6	G	A	17: 74,648,140 (GRCm38)	V3480I	probably damaging	Het
Bpifa5	A	T	2: 154,165,512 (GRCm38)	I125L	probably benign	Het
Ccm2l	A	T	2: 153,067,775 (GRCm38)	I16F	probably benign	Het
Cep72	G	A	13: 74,050,184 (GRCm38)	S359F	possibly damaging	Het
Col1a1	A	G	11: 94,947,274 (GRCm38)	N844S	unknown	Het
Col7a1	C	T	9: 108,967,662 (GRCm38)	P1623S	possibly damaging	Het
Crybg1	T	C	10: 44,004,842 (GRCm38)	K117E	probably benign	Het
Csmd3	A	G	15: 47,982,006 (GRCm38)	C54R		Het
Dlg1	A	G	16: 31,781,830 (GRCm38)	T211A	probably benign	Het
Emc1	C	A	4: 139,369,968 (GRCm38)	H724N	possibly damaging	Het
Epg5	A	C	18: 77,965,008 (GRCm38)	N784H	probably benign	Het
Epg5	A	T	18: 77,965,009 (GRCm38)	N784I	possibly damaging	Het
Epg5	T	A	18: 77,965,010 (GRCm38)	N784K	probably benign	Het
Erc2	A	G	14: 28,080,188 (GRCm38)	E771G	possibly damaging	Het
Exo1	T	C	1: 175,892,112 (GRCm38)	V241A	probably benign	Het
Fat4	A	G	3: 38,891,853 (GRCm38)	T1632A	probably benign	Het
Fbxo21	T	A	5: 118,002,062 (GRCm38)	M529K	probably damaging	Het
Fhad1	T	C	4: 141,918,823 (GRCm38)	E276G	probably benign	Het
Frem1	G	A	4: 82,970,778 (GRCm38)	T1069I	probably damaging	Het
Gapvd1	A	C	2: 34,678,066 (GRCm38)	F1429V	probably damaging	Het
Gbp9	T	C	5: 105,081,251 (GRCm38)	E510G	possibly damaging	Het
Gm17087	A	T	17: 8,566,678 (GRCm38)	H64Q	probably damaging	Het
Gm19965	A	T	1: 116,822,137 (GRCm38)	Y516F	unknown	Het
Hdac5	A	T	11: 102,218,454 (GRCm38)	I38N	probably benign	Het
Hectd4	T	A	5: 121,363,775 (GRCm38)	C4190*	probably null	Het
Helb	A	T	10: 120,089,507 (GRCm38)	D988E	probably benign	Het
Herc6	C	T	6: 57,662,374 (GRCm38)	S909L	probably damaging	Het
Ice1	A	T	13: 70,602,891 (GRCm38)	V1692E	probably damaging	Het
Ino80	A	G	2: 119,406,908 (GRCm38)	Y1107H	probably benign	Het
Kif9	A	T	9: 110,501,656 (GRCm38)	Y350F	probably benign	Het
Lct	T	A	1: 128,293,797 (GRCm38)	T1570S	probably benign	Het
Lias	T	A	5: 65,399,850 (GRCm38)	N203K	probably benign	Het
Lrrtm4	A	G	6: 80,022,109 (GRCm38)	N168S	probably damaging	Het
Ltf	A	T	9: 111,031,124 (GRCm38)	K538*	probably null	Het
Lysmd4	A	G	7: 67,226,039 (GRCm38)	D150G	probably benign	Het
Magi2	A	G	5: 20,534,464 (GRCm38)	D572G	probably benign	Het
Meiob	T	C	17: 24,828,034 (GRCm38)		probably null	Het
Mettl11b	T	A	1: 163,717,169 (GRCm38)	T82S	probably benign	Het
Ncor2	T	C	5: 125,038,900 (GRCm38)	Y130C		Het
Ofcc1	A	G	13: 40,255,596 (GRCm38)	S118P	probably benign	Het
Olfr1512	A	G	14: 52,372,963 (GRCm38)	F30S	probably benign	Het
Olfr315	A	G	11: 58,778,387 (GRCm38)	T87A	probably benign	Het
Olfr922	T	A	9: 38,816,039 (GRCm38)	C179S	probably damaging	Het
Parp14	A	T	16: 35,856,811 (GRCm38)	M929K	probably benign	Het
Pcdh8	T	C	14: 79,768,789 (GRCm38)	E778G	probably benign	Het
Pgls	T	C	8: 71,595,194 (GRCm38)	V211A	probably benign	Het
Pkd2	T	A	5: 104,489,285 (GRCm38)	M588K	probably damaging	Het
Pms1	T	C	1: 53,192,110 (GRCm38)	N860S	probably benign	Het
Psg19	C	T	7: 18,796,963 (GRCm38)	V89M	probably benign	Het
Reln	T	C	5: 21,942,674 (GRCm38)	H2426R	probably benign	Het
Ripor2	T	A	13: 24,701,067 (GRCm38)	N428K	possibly damaging	Het
Slc12a4	C	T	8: 105,949,653 (GRCm38)		probably null	Het
Slc25a3	T	C	10: 91,117,098 (GRCm38)	I314V	probably benign	Het
Slc29a1	C	A	17: 45,589,762 (GRCm38)	V125F	probably benign	Het
Slc9a5	T	A	8: 105,359,349 (GRCm38)	C583S	probably damaging	Het
Slco2b1	G	A	7: 99,660,052 (GRCm38)	Q691*	probably null	Het
Smg7	T	C	1: 152,843,378 (GRCm38)	D874G	probably damaging	Het
Spef2	T	A	15: 9,729,637 (GRCm38)	K132*	probably null	Het
Tap1	A	G	17: 34,193,159 (GRCm38)	K446R	probably benign	Het
Tcam1	A	T	11: 106,285,617 (GRCm38)	T390S	possibly damaging	Het
Tnik	A	G	3: 28,611,908 (GRCm38)	N687D	probably damaging	Het
Trim42	T	C	9: 97,369,799 (GRCm38)	R16G	possibly damaging	Het
Vcp	A	C	4: 42,984,658 (GRCm38)	L411W	probably damaging	Het
Vma21-ps	C	A	4: 52,496,973 (GRCm38)	G91V	probably damaging	Het
Vmn1r23	T	C	6: 57,926,467 (GRCm38)	T109A	probably benign	Het
Vmn2r67	C	T	7: 85,152,242 (GRCm38)	C162Y	probably benign	Het
Vmn2r-ps117	A	G	17: 18,823,759 (GRCm38)	T366A	probably benign	Het
Zfp804a	A	G	2: 82,235,846 (GRCm38)	K54E	probably damaging	Het

Other mutations in Catsperg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Catsperg2	APN	7	29,705,404 (GRCm38)	missense	possibly damaging	0.86
IGL00095:Catsperg2	APN	7	29,698,058 (GRCm38)	missense	possibly damaging	0.73
IGL00902:Catsperg2	APN	7	29,701,143 (GRCm38)	missense	possibly damaging	0.93
IGL01667:Catsperg2	APN	7	29,710,133 (GRCm38)	missense	probably damaging	0.98
IGL01791:Catsperg2	APN	7	29,704,665 (GRCm38)	splice site	probably null
IGL01961:Catsperg2	APN	7	29,721,672 (GRCm38)	splice site	probably benign
IGL02187:Catsperg2	APN	7	29,721,366 (GRCm38)	missense	probably benign	0.02
IGL02605:Catsperg2	APN	7	29,719,565 (GRCm38)	missense	possibly damaging	0.71
IGL03001:Catsperg2	APN	7	29,725,079 (GRCm38)	missense	probably benign	0.32
IGL03228:Catsperg2	APN	7	29,698,225 (GRCm38)	missense	probably damaging	0.96
IGL03239:Catsperg2	APN	7	29,697,716 (GRCm38)	missense	probably benign	0.04
IGL03242:Catsperg2	APN	7	29,725,479 (GRCm38)	unclassified	probably benign
IGL03247:Catsperg2	APN	7	29,717,048 (GRCm38)	missense	possibly damaging	0.71
IGL03256:Catsperg2	APN	7	29,709,874 (GRCm38)	missense	probably damaging	0.99
PIT4520001:Catsperg2	UTSW	7	29,710,161 (GRCm38)	missense	possibly damaging	0.93
R0052:Catsperg2	UTSW	7	29,725,020 (GRCm38)	splice site	probably benign
R0281:Catsperg2	UTSW	7	29,706,571 (GRCm38)	missense	possibly damaging	0.86
R0357:Catsperg2	UTSW	7	29,714,901 (GRCm38)	missense	possibly damaging	0.93
R0480:Catsperg2	UTSW	7	29,721,298 (GRCm38)	missense	probably damaging	0.98
R0578:Catsperg2	UTSW	7	29,704,691 (GRCm38)	missense	possibly damaging	0.71
R0732:Catsperg2	UTSW	7	29,700,696 (GRCm38)	missense	probably damaging	1.00
R0826:Catsperg2	UTSW	7	29,705,624 (GRCm38)	missense	possibly damaging	0.92
R1535:Catsperg2	UTSW	7	29,698,246 (GRCm38)	missense	possibly damaging	0.85
R1925:Catsperg2	UTSW	7	29,697,764 (GRCm38)	missense	probably benign	0.01
R1990:Catsperg2	UTSW	7	29,721,045 (GRCm38)	nonsense	probably null
R3433:Catsperg2	UTSW	7	29,701,218 (GRCm38)	missense	possibly damaging	0.71
R3721:Catsperg2	UTSW	7	29,705,102 (GRCm38)	missense	probably benign	0.02
R4020:Catsperg2	UTSW	7	29,717,004 (GRCm38)	missense	probably damaging	0.99
R4760:Catsperg2	UTSW	7	29,705,635 (GRCm38)	missense	probably damaging	0.99
R4829:Catsperg2	UTSW	7	29,701,125 (GRCm38)	missense	probably damaging	0.98
R5033:Catsperg2	UTSW	7	29,710,134 (GRCm38)	missense	possibly damaging	0.93
R5093:Catsperg2	UTSW	7	29,716,998 (GRCm38)	missense	probably benign	0.32
R5266:Catsperg2	UTSW	7	29,717,066 (GRCm38)	missense	probably damaging	0.98
R5267:Catsperg2	UTSW	7	29,717,066 (GRCm38)	missense	probably damaging	0.98
R5287:Catsperg2	UTSW	7	29,697,838 (GRCm38)	missense	possibly damaging	0.96
R5427:Catsperg2	UTSW	7	29,714,850 (GRCm38)	missense	possibly damaging	0.71
R5575:Catsperg2	UTSW	7	29,705,590 (GRCm38)	missense	possibly damaging	0.84
R5685:Catsperg2	UTSW	7	29,701,188 (GRCm38)	missense	probably damaging	1.00
R5844:Catsperg2	UTSW	7	29,697,832 (GRCm38)	missense	possibly damaging	0.96
R5982:Catsperg2	UTSW	7	29,713,017 (GRCm38)	missense	possibly damaging	0.51
R6662:Catsperg2	UTSW	7	29,719,513 (GRCm38)	start gained	probably benign
R6744:Catsperg2	UTSW	7	29,709,819 (GRCm38)	missense	probably benign	0.23
R7171:Catsperg2	UTSW	7	29,705,325 (GRCm38)	missense	possibly damaging	0.71
R7239:Catsperg2	UTSW	7	29,710,082 (GRCm38)	missense	probably benign	0.00
R7336:Catsperg2	UTSW	7	29,706,601 (GRCm38)	missense	possibly damaging	0.83
R7498:Catsperg2	UTSW	7	29,717,102 (GRCm38)	missense	possibly damaging	0.71
R7548:Catsperg2	UTSW	7	29,709,826 (GRCm38)	missense	probably benign	0.32
R7562:Catsperg2	UTSW	7	29,697,719 (GRCm38)	missense	probably benign	0.18
R7565:Catsperg2	UTSW	7	29,712,981 (GRCm38)	missense	probably null	0.71
R7600:Catsperg2	UTSW	7	29,704,858 (GRCm38)	missense	probably benign	0.32
R8460:Catsperg2	UTSW	7	29,705,319 (GRCm38)	missense	possibly damaging	0.92
R8461:Catsperg2	UTSW	7	29,705,319 (GRCm38)	missense	possibly damaging	0.92
R8752:Catsperg2	UTSW	7	29,705,319 (GRCm38)	missense	possibly damaging	0.92
R8829:Catsperg2	UTSW	7	29,697,844 (GRCm38)	missense	probably benign	0.33
R8832:Catsperg2	UTSW	7	29,697,844 (GRCm38)	missense	probably benign	0.33
R9264:Catsperg2	UTSW	7	29,698,188 (GRCm38)	missense	possibly damaging	0.72
R9284:Catsperg2	UTSW	7	29,705,581 (GRCm38)	critical splice donor site	probably null
R9468:Catsperg2	UTSW	7	29,710,007 (GRCm38)	critical splice donor site	probably null
Z1177:Catsperg2	UTSW	7	29,697,782 (GRCm38)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCACAGTTACTGAAAGGCACTC -3'
(R):5'- TGACCATCCTGTGCATCCAG -3'

Sequencing Primer
(F):5'- AGGATCCGCTATTGTCACAG -3'
(R):5'- ATCCTGTGCATCCAGGATTAC -3'

Posted On

2021-03-08