Mutagenetix > Incidental Mutation

Incidental Mutation 'R5706:Svs2'

451956

Institutional Source

Beutler Lab

Gene Symbol

Svs2

Ensembl Gene

ENSMUSG00000040132

Gene Name

seminal vesicle secretory protein 2

Synonyms

semenoclotin, SVS II

MMRRC Submission

043331-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5706 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164235929-164238466 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164237669 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 106 (K106R)

Ref Sequence

ENSEMBL: ENSMUSP00000104999 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044953] [ENSMUST00000109374]

AlphaFold

Q8BS30

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044953
AA Change: K106R

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000042389
Gene: ENSMUSG00000040132
AA Change: K106R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:SVS_QK	110	121	1.2e-6	PFAM
Pfam:SVS_QK	122	137	3.9e-3	PFAM
Pfam:SVS_QK	139	149	1.3e-5	PFAM
Pfam:SVS_QK	151	166	8.4e-4	PFAM
Pfam:SVS_QK	168	179	5.3e-6	PFAM
Pfam:SVS_QK	180	195	3.9e-3	PFAM
Pfam:SVS_QK	197	207	1.3e-5	PFAM
Pfam:SVS_QK	210	221	8.8e-5	PFAM
Pfam:SVS_QK	225	236	7.7e-6	PFAM
Pfam:SVS_QK	238	249	6.1e-6	PFAM
Pfam:SVS_QK	249	260	5.2e-4	PFAM
Pfam:SVS_QK	262	272	3.1e-5	PFAM
Pfam:SVS_QK	323	334	6.7e-5	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109374
AA Change: K106R

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104999
Gene: ENSMUSG00000040132
AA Change: K106R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:SVS_QK	110	121	1.2e-6	PFAM
Pfam:SVS_QK	122	137	3.9e-3	PFAM
Pfam:SVS_QK	139	149	1.3e-5	PFAM
Pfam:SVS_QK	151	166	8.4e-4	PFAM
Pfam:SVS_QK	168	179	5.3e-6	PFAM
Pfam:SVS_QK	180	195	3.9e-3	PFAM
Pfam:SVS_QK	197	207	1.3e-5	PFAM
Pfam:SVS_QK	210	221	8.8e-5	PFAM
Pfam:SVS_QK	225	236	7.7e-6	PFAM
Pfam:SVS_QK	238	249	6.1e-6	PFAM
Pfam:SVS_QK	249	260	5.2e-4	PFAM
Pfam:SVS_QK	262	272	3.1e-5	PFAM
Pfam:SVS_QK	323	334	6.7e-5	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Male mice homozygous for a null allele display severely reduced fertility with premature acrosome reaction, absence of copulatory plug formation and intrauterine death of sperm. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,054,261	M77K	probably benign	Het
Amy1	A	G	3: 113,556,120	V467A	probably damaging	Het
Atf4	T	C	15: 80,256,330	V11A	possibly damaging	Het
B4galt1	T	C	4: 40,807,268	N373D	probably damaging	Het
Bpifa3	A	G	2: 154,135,578	K112R	probably damaging	Het
Chd2	T	A	7: 73,491,357	Y596F	possibly damaging	Het
Clspn	T	C	4: 126,578,418	S962P	probably damaging	Het
Cyp2c68	T	C	19: 39,734,318	D262G	possibly damaging	Het
Dcaf11	T	C	14: 55,565,695	I282T	probably damaging	Het
Dmxl1	T	C	18: 49,957,395		probably null	Het
Dnah11	T	G	12: 118,023,935	K2411Q	probably damaging	Het
Elf3	A	G	1: 135,256,482	V196A	probably benign	Het
Fhad1	T	G	4: 141,954,116	T538P	probably damaging	Het
Fkbp10	A	G	11: 100,421,023	D174G	probably damaging	Het
Gas6	A	G	8: 13,477,098	S217P	probably damaging	Het
Gm4778	T	A	3: 94,266,652	H322Q	possibly damaging	Het
Heatr5b	C	T	17: 78,766,875		probably null	Het
Iqgap3	A	G	3: 88,115,908	E502G	probably benign	Het
Klc1	T	C	12: 111,795,627	V577A	possibly damaging	Het
Lck	T	C	4: 129,551,638		probably null	Het
Mc3r	C	A	2: 172,249,690	Y277*	probably null	Het
Mlxipl	T	C	5: 135,133,604	V640A	probably benign	Het
Mrc2	A	T	11: 105,332,343	N471Y	probably damaging	Het
Ncan	T	A	8: 70,102,017	H1050L	probably damaging	Het
Nrl	C	A	14: 55,522,432	V13F	probably damaging	Het
Obscn	T	A	11: 59,076,256	Y546F	probably damaging	Het
Olfr214	A	G	6: 116,557,113	I229M	probably damaging	Het
Olfr654	T	G	7: 104,587,890	S46A	probably benign	Het
Olfr799	A	G	10: 129,648,091		probably null	Het
Pde3b	G	A	7: 114,521,692	G684D	probably damaging	Het
Prkaa1	C	T	15: 5,174,342	T244I	probably benign	Het
Scfd2	A	T	5: 74,206,398		probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Smg1	A	T	7: 118,145,590	V3113D	possibly damaging	Het
Sorbs1	T	C	19: 40,376,881	T153A	probably benign	Het
Spag16	A	G	1: 69,870,289	T182A	probably benign	Het
Tenm1	A	G	X: 43,074,695	V107A	possibly damaging	Het
Topaz1	A	T	9: 122,799,485	I1546F	possibly damaging	Het
Tubgcp2	C	A	7: 140,032,225	E78*	probably null	Het
Vars	A	G	17: 35,005,481		probably null	Het
Vmn2r109	A	T	17: 20,554,305	W263R	probably benign	Het

Other mutations in Svs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Svs2	APN	2	164237042	missense	possibly damaging	0.86
IGL01722:Svs2	APN	2	164237526	missense	possibly damaging	0.71
IGL03189:Svs2	APN	2	164237112	missense	possibly damaging	0.73
R1276:Svs2	UTSW	2	164237248	missense	possibly damaging	0.95
R1541:Svs2	UTSW	2	164237009	missense	possibly damaging	0.71
R1590:Svs2	UTSW	2	164237658	missense	possibly damaging	0.86
R3946:Svs2	UTSW	2	164237127	missense	probably benign	0.01
R3965:Svs2	UTSW	2	164237742	missense	possibly damaging	0.53
R4075:Svs2	UTSW	2	164237318	missense	probably benign	0.01
R4632:Svs2	UTSW	2	164237747	missense	probably benign	0.40
R4732:Svs2	UTSW	2	164237123	missense	possibly damaging	0.87
R4733:Svs2	UTSW	2	164237123	missense	possibly damaging	0.87
R4839:Svs2	UTSW	2	164236886	missense	probably benign	0.40
R6936:Svs2	UTSW	2	164237628	missense	possibly damaging	0.86
R7052:Svs2	UTSW	2	164238206	missense	unknown
R7836:Svs2	UTSW	2	164237580	missense	possibly damaging	0.86
R8035:Svs2	UTSW	2	164237133	missense	probably benign	0.18
R8100:Svs2	UTSW	2	164237792	missense	probably benign	0.08
R8187:Svs2	UTSW	2	164237772	missense	possibly damaging	0.88
R8310:Svs2	UTSW	2	164238171	missense	probably damaging	1.00
R8312:Svs2	UTSW	2	164238171	missense	probably damaging	1.00
R9089:Svs2	UTSW	2	164237421	missense	probably benign	0.27
R9156:Svs2	UTSW	2	164237589	missense	probably benign	0.32
R9545:Svs2	UTSW	2	164237393	missense	possibly damaging	0.52
R9790:Svs2	UTSW	2	164236998	nonsense	probably null
R9791:Svs2	UTSW	2	164236998	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGTCCAAAGGCTGGTCCTC -3'
(R):5'- AAAGGCCACTTCCAGAGCAG -3'

Sequencing Primer
(F):5'- GGTCCTCCAGATTTCAACTGAC -3'
(R):5'- AGAAAGGCCGTCTCAGTTTC -3'

Posted On

2017-01-03