Mutagenetix > Incidental Mutation

Incidental Mutation 'R8398:Scrn2'

647728

Institutional Source

Beutler Lab

Gene Symbol

Scrn2

Ensembl Gene

ENSMUSG00000020877

Gene Name

secernin 2

Synonyms

SES2, D11Moh48

MMRRC Submission

067761-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8398 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96920764-96924784 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 96921730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 67 (V67L)

Ref Sequence

ENSEMBL: ENSMUSP00000021249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021249] [ENSMUST00000021251] [ENSMUST00000153482]

AlphaFold

Q8VCA8

Predicted Effect

probably benign
Transcript: ENSMUST00000021249
AA Change: V67L

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000021249
Gene: ENSMUSG00000020877
AA Change: V67L

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
Pfam:Peptidase_C69	83	254	2e-10	PFAM
coiled coil region	362	395	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000021251

SMART Domains

Protein: ENSMUSP00000021251
Gene: ENSMUSG00000020878

Domain	Start	End	E-Value	Type
SCOP:d1h6ua2	44	150	1e-15	SMART
Blast:LRR	69	91	7e-6	BLAST
low complexity region	179	191	N/A	INTRINSIC
low complexity region	209	225	N/A	INTRINSIC
low complexity region	265	292	N/A	INTRINSIC
low complexity region	297	323	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153482
AA Change: V67L

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000116606
Gene: ENSMUSG00000020877
AA Change: V67L

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
Pfam:Peptidase_C69	59	181	2.4e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,330,797 (GRCm39)	D6086G	probably damaging	Het
Amh	T	C	10: 80,641,394 (GRCm39)	S105P	probably benign	Het
Arap2	A	T	5: 62,906,252 (GRCm39)	Y256N	probably damaging	Het
Asap3	G	A	4: 135,961,704 (GRCm39)	M271I	probably benign	Het
Bbof1	T	C	12: 84,475,188 (GRCm39)	L459P	probably damaging	Het
Ccl21a	T	C	4: 42,773,412 (GRCm39)	T109A	probably benign	Het
Cnot6	C	T	11: 49,593,445 (GRCm39)	R12Q	probably damaging	Het
D5Ertd579e	G	A	5: 36,771,621 (GRCm39)	Q925*	probably null	Het
Dbh	G	A	2: 27,064,910 (GRCm39)	V374M	probably damaging	Het
Dvl2	T	A	11: 69,899,128 (GRCm39)	L462Q	probably damaging	Het
Fchsd1	G	A	18: 38,099,577 (GRCm39)	R206C	probably damaging	Het
Gjd4	C	T	18: 9,280,326 (GRCm39)	V251M	possibly damaging	Het
Glud1	A	G	14: 34,033,228 (GRCm39)	D125G	probably benign	Het
Gm10428	T	C	11: 62,644,173 (GRCm39)	I83T	unknown	Het
Gm10985	A	C	3: 53,752,674 (GRCm39)	Y19S	probably damaging	Het
Gm3045	A	G	13: 56,577,280 (GRCm39)	T143A	possibly damaging	Het
Heatr6	A	C	11: 83,672,164 (GRCm39)	E1057D	probably benign	Het
Hoxa9	T	C	6: 52,201,403 (GRCm39)	T213A	probably damaging	Het
Hsd3b5	T	A	3: 98,526,720 (GRCm39)	D242V	possibly damaging	Het
Lama5	A	G	2: 179,838,827 (GRCm39)		probably null	Het
Lrp1b	C	T	2: 40,591,819 (GRCm39)	C3827Y		Het
Mast2	A	T	4: 116,165,946 (GRCm39)	S1261T	probably damaging	Het
Mex3b	T	A	7: 82,518,842 (GRCm39)	F386I	probably benign	Het
Mta1	T	A	12: 113,095,242 (GRCm39)	M465K	possibly damaging	Het
Mtmr12	T	A	15: 12,265,695 (GRCm39)	F470L	probably damaging	Het
Myot	A	G	18: 44,487,883 (GRCm39)	N400S	probably benign	Het
Ndnf	T	C	6: 65,681,362 (GRCm39)	V547A	probably damaging	Het
Noc3l	A	T	19: 38,783,554 (GRCm39)	D607E	probably benign	Het
Or5w14	A	G	2: 87,542,175 (GRCm39)	V25A	probably benign	Het
Pcdha11	G	A	18: 37,146,116 (GRCm39)	G736R	possibly damaging	Het
Pcgf3	A	G	5: 108,647,509 (GRCm39)	N205S	probably damaging	Het
Pkd1l3	C	T	8: 110,350,520 (GRCm39)	P455L	possibly damaging	Het
Psg27	T	C	7: 18,295,837 (GRCm39)	T203A	probably benign	Het
Ptch1	T	C	13: 63,672,939 (GRCm39)	T889A	probably benign	Het
Sars1	C	T	3: 108,335,489 (GRCm39)		probably null	Het
Slc1a4	T	C	11: 20,257,982 (GRCm39)	D380G	probably damaging	Het
Slc9a1	A	T	4: 133,146,814 (GRCm39)	Q516L	probably benign	Het
Smc4	T	C	3: 68,933,184 (GRCm39)	Y627H	probably damaging	Het
Spon2	G	T	5: 33,374,154 (GRCm39)	H76Q	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Sppl2b	CTGTCACA	C	10: 80,701,902 (GRCm39)		probably null	Het
Sugp1	A	G	8: 70,523,783 (GRCm39)	Y550C	probably damaging	Het
Sun1	A	G	5: 139,222,408 (GRCm39)	D558G	probably damaging	Het
Syne1	T	C	10: 5,074,923 (GRCm39)	E1134G	probably damaging	Het
Thbd	C	T	2: 148,248,600 (GRCm39)	V423I	probably benign	Het
V1rd19	C	A	7: 23,703,374 (GRCm39)	S280*	probably null	Het
Zfp947	A	T	17: 22,365,102 (GRCm39)	C191S	probably benign	Het

Other mutations in Scrn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Scrn2	APN	11	96,921,396 (GRCm39)	missense	probably benign	0.03
IGL01580:Scrn2	APN	11	96,922,956 (GRCm39)	missense	probably benign
R1847:Scrn2	UTSW	11	96,923,021 (GRCm39)	missense	probably benign	0.22
R2509:Scrn2	UTSW	11	96,923,992 (GRCm39)	missense	possibly damaging	0.71
R2698:Scrn2	UTSW	11	96,923,122 (GRCm39)	unclassified	probably benign
R4361:Scrn2	UTSW	11	96,923,064 (GRCm39)	missense	probably null	1.00
R4927:Scrn2	UTSW	11	96,924,326 (GRCm39)	critical splice donor site	probably null
R5040:Scrn2	UTSW	11	96,921,709 (GRCm39)	missense	probably damaging	1.00
R5367:Scrn2	UTSW	11	96,923,953 (GRCm39)	missense	possibly damaging	0.95
R5534:Scrn2	UTSW	11	96,921,751 (GRCm39)	missense	probably benign	0.00
R6145:Scrn2	UTSW	11	96,923,679 (GRCm39)	missense	probably benign	0.35
R7029:Scrn2	UTSW	11	96,921,262 (GRCm39)	unclassified	probably benign
R7082:Scrn2	UTSW	11	96,923,908 (GRCm39)	missense	possibly damaging	0.68
R7165:Scrn2	UTSW	11	96,924,634 (GRCm39)	missense	probably benign
R7468:Scrn2	UTSW	11	96,923,992 (GRCm39)	missense	possibly damaging	0.95
R7568:Scrn2	UTSW	11	96,921,712 (GRCm39)	missense	probably damaging	1.00
R7632:Scrn2	UTSW	11	96,923,968 (GRCm39)	missense	possibly damaging	0.51
R7950:Scrn2	UTSW	11	96,921,755 (GRCm39)	missense	probably damaging	1.00
R8239:Scrn2	UTSW	11	96,923,046 (GRCm39)	missense	probably damaging	1.00
R8408:Scrn2	UTSW	11	96,921,869 (GRCm39)	missense	probably damaging	1.00
R8872:Scrn2	UTSW	11	96,922,961 (GRCm39)	missense	probably damaging	1.00
R9206:Scrn2	UTSW	11	96,922,962 (GRCm39)	missense	probably damaging	1.00
R9596:Scrn2	UTSW	11	96,923,907 (GRCm39)	missense	probably damaging	0.98
R9643:Scrn2	UTSW	11	96,921,342 (GRCm39)	missense	probably damaging	0.99
R9708:Scrn2	UTSW	11	96,922,928 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTTGAGTGGAGTTAGCTTC -3'
(R):5'- CCCAATAGACTCAGGCTAGGTG -3'

Sequencing Primer
(F):5'- CTGCTAACTCGGTTTACTTATGTG -3'
(R):5'- CTCAGGCTAGGTGGGAGG -3'

Posted On

2020-09-02