Mutagenetix > Incidental Mutations

Incidental Mutation 'R7405:Catsperd'

574548

Institutional Source

Beutler Lab

Gene Symbol

Catsperd

Ensembl Gene

ENSMUSG00000040828

Gene Name

cation channel sperm associated auxiliary subunit delta

Synonyms

4933402B14Rik, 4921529N20Rik, Gm6095, Tmem146

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R7405 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56628143-56664456 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56632335 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 55 (V55M)

Ref Sequence

ENSEMBL: ENSMUSP00000108603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112979]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112979
AA Change: V55M

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108603
Gene: ENSMUSG00000040828
AA Change: V55M

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:CATSPERD	38	766	N/A	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a deletion in this gene display male infertility. Hyperactivity of sperm fails to develop under capacitating conditions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	T	17: 9,001,817	V383L	probably damaging	Het
1700012P22Rik	T	C	4: 144,419,753	N110S	probably damaging	Het
2410141K09Rik	T	C	13: 66,431,059	Q455R	unknown	Het
4930507D05Rik	C	A	10: 62,449,784	H96N	unknown	Het
4930539E08Rik	G	A	17: 28,905,324	R335W	probably damaging	Het
5730480H06Rik	T	C	5: 48,388,116	I235T	possibly damaging	Het
Abcb11	A	G	2: 69,287,619	Y472H	probably damaging	Het
Adam39	A	T	8: 40,824,622	I17L	probably benign	Het
Aire	T	C	10: 78,034,613	H458R	probably benign	Het
Ap3d1	T	C	10: 80,741,900	D31G	probably benign	Het
Atad2b	T	A	12: 4,943,232	H250Q	probably benign	Het
Borcs5	C	A	6: 134,685,982	T74N	probably benign	Het
Btbd16	C	T	7: 130,805,856	T292I	probably benign	Het
Ctr9	T	C	7: 111,043,714	F462S	possibly damaging	Het
Cyp4f39	A	G	17: 32,481,815	S153G	probably benign	Het
Ddo	T	C	10: 40,647,997	C328R	possibly damaging	Het
Ddr1	A	G	17: 35,690,100	V251A	probably damaging	Het
Dis3l	A	G	9: 64,314,704	F475L	probably damaging	Het
Dkk4	G	A	8: 22,625,843	V99M	probably benign	Het
Dync1h1	C	T	12: 110,634,220	A1938V	probably damaging	Het
Ecel1	A	T	1: 87,153,516		probably null	Het
Fbxo7	T	A	10: 86,044,581	Y377N	probably damaging	Het
Fbxw24	T	C	9: 109,607,068	I299V	possibly damaging	Het
Fkbp10	C	T	11: 100,415,881	A33V	probably damaging	Het
Gabra1	T	C	11: 42,155,023	T87A	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm884	A	T	11: 103,615,161	Y1994N	probably benign	Het
Golga3	A	T	5: 110,208,446	I1000F	probably damaging	Het
Grid2ip	T	C	5: 143,380,444	I563T	probably benign	Het
Gsx1	T	C	5: 147,189,133	S82P	possibly damaging	Het
Heg1	A	G	16: 33,763,449	K34E	possibly damaging	Het
Kank1	T	A	19: 25,410,319	L452*	probably null	Het
Lce1k	A	T	3: 92,806,874	M1K	probably null	Het
Lcmt2	A	G	2: 121,139,387	I185T	probably benign	Het
Lrp1	T	C	10: 127,581,751	D1046G	possibly damaging	Het
Mast3	A	T	8: 70,786,171	D496E	probably damaging	Het
Mst1r	C	T	9: 107,915,122	S925F	possibly damaging	Het
Mterf2	C	T	10: 85,120,496	G88D	probably damaging	Het
Mthfd1	T	C	12: 76,311,874	V783A	probably damaging	Het
Mybpc2	A	T	7: 44,507,194	W778R	probably damaging	Het
Nbea	A	G	3: 55,805,266	L2130P	possibly damaging	Het
Ndst4	A	G	3: 125,683,216	N30S	probably benign	Het
Nphs1	T	C	7: 30,462,828	V299A	possibly damaging	Het
Nup107	T	C	10: 117,770,415	D474G	probably benign	Het
Olfr1118	A	C	2: 87,308,995	I89L	probably benign	Het
Olfr1490	T	C	19: 13,654,882	V151A	probably benign	Het
Olfr225	T	A	11: 59,614,073	F370I	possibly damaging	Het
Olfr8	T	C	10: 78,955,697	V164A	probably benign	Het
Pgap2	T	C	7: 102,231,388	V41A	probably benign	Het
Plekhh1	C	T	12: 79,055,047	T297I	probably benign	Het
Plxna4	A	T	6: 32,196,319	Y1226N	probably benign	Het
Polr3b	A	G	10: 84,684,179	D653G	probably benign	Het
Ppp2r2c	T	C	5: 36,947,142	F289L	possibly damaging	Het
Prickle2	A	G	6: 92,458,543	S82P	probably damaging	Het
Ptger2	T	A	14: 44,989,074	V37D	probably damaging	Het
Rasa2	G	A	9: 96,566,027	P526S	probably benign	Het
Rbm47	A	T	5: 66,026,495	I255N	probably damaging	Het
Sez6	A	T	11: 77,962,891	T296S	probably benign	Het
Slc2a9	T	A	5: 38,391,824	I316F	probably damaging	Het
Slc41a1	T	A	1: 131,839,146	V134D	probably damaging	Het
Slc5a7	A	T	17: 54,297,133	S2T	probably benign	Het
Slc9a4	C	T	1: 40,600,926	R293C	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Suco	A	G	1: 161,828,214	F1039L	possibly damaging	Het
Sycp1	A	G	3: 102,925,227	Y208H	possibly damaging	Het
Tpr	T	C	1: 150,442,127	S2129P	probably benign	Het
Trim34b	T	A	7: 104,336,483	S442T	probably damaging	Het
Ttn	A	T	2: 76,743,346	Y25734*	probably null	Het
Uchl5	C	T	1: 143,800,014	Q276*	probably null	Het
Wrn	C	G	8: 33,248,966	W1278S	probably benign	Het
Yeats2	T	A	16: 20,222,913	D1184E	probably damaging	Het
Zfat	G	A	15: 68,184,485	R241W	probably damaging	Het
Zfp646	T	A	7: 127,878,796	Y48*	probably null	Het

Other mutations in Catsperd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02514:Catsperd	APN	17	56661271	missense	probably damaging	0.98
IGL02598:Catsperd	APN	17	56647815	splice site	probably null
IGL03037:Catsperd	APN	17	56641583	missense	possibly damaging	0.80
IGL03330:Catsperd	APN	17	56632316	missense	possibly damaging	0.45
R0391:Catsperd	UTSW	17	56662821	missense	probably benign	0.00
R0463:Catsperd	UTSW	17	56659554	missense	probably damaging	0.99
R0506:Catsperd	UTSW	17	56658078	missense	possibly damaging	0.95
R0538:Catsperd	UTSW	17	56662828	missense	probably benign	0.00
R0550:Catsperd	UTSW	17	56663427	critical splice donor site	probably null
R1503:Catsperd	UTSW	17	56654525	missense	possibly damaging	0.63
R1705:Catsperd	UTSW	17	56633521	missense	probably damaging	0.97
R1919:Catsperd	UTSW	17	56635548	missense	probably damaging	0.99
R2851:Catsperd	UTSW	17	56660169	critical splice acceptor site	probably null
R2852:Catsperd	UTSW	17	56660169	critical splice acceptor site	probably null
R3147:Catsperd	UTSW	17	56664039	missense	possibly damaging	0.86
R3148:Catsperd	UTSW	17	56664039	missense	possibly damaging	0.86
R4084:Catsperd	UTSW	17	56654453	missense	probably benign	0.14
R4329:Catsperd	UTSW	17	56654517	missense	possibly damaging	0.80
R4940:Catsperd	UTSW	17	56662736	missense	possibly damaging	0.95
R4944:Catsperd	UTSW	17	56662744	missense	probably damaging	0.97
R4952:Catsperd	UTSW	17	56632303	missense	probably damaging	0.99
R5079:Catsperd	UTSW	17	56658153	critical splice donor site	probably null
R5259:Catsperd	UTSW	17	56660235	missense	possibly damaging	0.93
R5635:Catsperd	UTSW	17	56632335	missense	possibly damaging	0.95
R5929:Catsperd	UTSW	17	56652493	missense	probably benign	0.00
R6789:Catsperd	UTSW	17	56654426	splice site	probably null
R6909:Catsperd	UTSW	17	56650781	missense	probably damaging	0.96
R6920:Catsperd	UTSW	17	56655175	nonsense	probably null
R7099:Catsperd	UTSW	17	56628811	splice site	probably null
R7106:Catsperd	UTSW	17	56658070	splice site	probably null
R7371:Catsperd	UTSW	17	56650801	missense	probably benign	0.22
R7478:Catsperd	UTSW	17	56664055	missense	probably benign	0.00
R7781:Catsperd	UTSW	17	56664072	missense	probably benign	0.00
R7918:Catsperd	UTSW	17	56631564	missense	probably benign	0.06
R7981:Catsperd	UTSW	17	56631562	missense	possibly damaging	0.85
R8200:Catsperd	UTSW	17	56632368	critical splice donor site	probably null
R8487:Catsperd	UTSW	17	56663419	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAGGTTGGTTTCTAGCGT -3'
(R):5'- TGTGGGCCAGAGCTACTTG -3'

Sequencing Primer
(F):5'- AGCGTTTTCTTTCTGTTCTCCTGAG -3'
(R):5'- TTTAATCCCAGCACTCGGGAG -3'

Posted On

2019-09-13