Mutagenetix > Incidental Mutation

Incidental Mutation 'R7632:Scrn2'

589714

Institutional Source

Beutler Lab

Gene Symbol

Scrn2

Ensembl Gene

ENSMUSG00000020877

Gene Name

secernin 2

Synonyms

SES2, D11Moh48

MMRRC Submission

045720-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7632 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97029938-97033958 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 97033142 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 284 (R284L)

Ref Sequence

ENSEMBL: ENSMUSP00000021249 (fasta)

Gene Model

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

AlphaFold

Q8VCA8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021249
AA Change: R284L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021249
Gene: ENSMUSG00000020877
AA Change: R284L

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

SMART Domains

Protein: ENSMUSP00000116606
Gene: ENSMUSG00000020877

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: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

95% (63/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2a2	A	G	7: 141,631,323 (GRCm38)	D924G	probably benign	Het
Armh1	C	A	4: 117,213,741 (GRCm38)	A396S	probably benign	Het
Atrnl1	A	G	19: 57,630,306 (GRCm38)	D152G	probably damaging	Het
B3gnt8	A	G	7: 25,628,435 (GRCm38)	I97V	possibly damaging	Het
Bach1	A	G	16: 87,720,143 (GRCm38)	D524G	probably benign	Het
Caprin2	T	C	6: 148,883,456 (GRCm38)	S107G	probably damaging	Het
Ccnb1	A	G	13: 100,781,701 (GRCm38)	I207T	probably benign	Het
Cdh11	T	C	8: 102,673,883 (GRCm38)	D151G	probably damaging	Het
Cdh9	A	G	15: 16,851,029 (GRCm38)		probably null	Het
Cep83	A	T	10: 94,750,640 (GRCm38)	R433W	probably damaging	Het
Cspg4b	C	A	13: 113,320,886 (GRCm38)	S1155R		Het
D3Ertd751e	A	G	3: 41,753,728 (GRCm38)	E100G	probably benign	Het
Dchs2	C	T	3: 83,348,050 (GRCm38)	A2351V	probably benign	Het
Dhx40	T	C	11: 86,799,437 (GRCm38)	T253A	probably benign	Het
Dqx1	A	G	6: 83,059,699 (GRCm38)	D228G	probably benign	Het
Dync1h1	T	C	12: 110,660,893 (GRCm38)	M4002T	probably benign	Het
Flcn	C	T	11: 59,795,799 (GRCm38)	W376*	probably null	Het
Flnc	A	T	6: 29,446,985 (GRCm38)	Y1037F	probably damaging	Het
Fut11	T	A	14: 20,695,028 (GRCm38)	V9E	probably benign	Het
Fv1	T	A	4: 147,869,935 (GRCm38)	N319K	possibly damaging	Het
Ghrhr	G	T	6: 55,384,742 (GRCm38)	G298V	probably benign	Het
Gm5800	T	A	14: 51,716,448 (GRCm38)		probably null	Het
Grin2b	A	G	6: 135,732,555 (GRCm38)	M1331T	probably benign	Het
Hyou1	A	G	9: 44,381,136 (GRCm38)		probably null	Het
Igkv1-117	C	A	6: 68,121,808 (GRCm38)	Q114K	probably damaging	Het
Igkv4-68	A	G	6: 69,305,064 (GRCm38)	V41A	possibly damaging	Het
Inpp4b	A	G	8: 82,046,339 (GRCm38)	N754S	probably damaging	Het
Isl2	G	A	9: 55,541,156 (GRCm38)		probably null	Het
Kat2a	G	A	11: 100,708,596 (GRCm38)	Q523*	probably null	Het
Lypd3	T	C	7: 24,638,440 (GRCm38)	F77S	possibly damaging	Het
Map4k2	T	C	19: 6,344,054 (GRCm38)	L297P	probably benign	Het
Naca	T	C	10: 128,040,506 (GRCm38)	V469A	unknown	Het
Notch3	C	T	17: 32,158,506 (GRCm38)	V199I	probably benign	Het
Or4k44	T	C	2: 111,538,176 (GRCm38)	I38V	possibly damaging	Het
Or5b119	T	C	19: 13,479,431 (GRCm38)	M256V	possibly damaging	Het
Pabpc1	TGTACCTGTTGCATGGTA	TGTA	15: 36,597,968 (GRCm38)		probably null	Het
Pcdhb8	A	T	18: 37,355,595 (GRCm38)	I109L	probably benign	Het
Pde2a	A	G	7: 101,484,594 (GRCm38)	D104G	possibly damaging	Het
Phip	A	G	9: 82,903,190 (GRCm38)	V824A	probably benign	Het
Plekhg4	T	C	8: 105,380,150 (GRCm38)	Y853H	probably damaging	Het
Plod1	T	C	4: 147,927,024 (GRCm38)	K248R	probably damaging	Het
Plxnd1	A	T	6: 115,976,639 (GRCm38)	Y656N	probably benign	Het
Pogz	G	A	3: 94,856,206 (GRCm38)		probably null	Het
Ppp1r3e	T	A	14: 54,877,069 (GRCm38)	S79C	probably damaging	Het
Pprc1	T	A	19: 46,072,282 (GRCm38)	D1595E	probably damaging	Het
Ptprq	A	G	10: 107,711,922 (GRCm38)	V205A	probably benign	Het
Rad51ap2	T	C	12: 11,457,115 (GRCm38)	V346A	possibly damaging	Het
Rgs12	T	A	5: 34,965,590 (GRCm38)	L239H	probably damaging	Het
Rrp8	T	C	7: 105,736,520 (GRCm38)		probably benign	Het
Rsf1	GGCG	GGCGACCGCCGCG	7: 97,579,906 (GRCm38)		probably benign	Het
Scaf1	A	T	7: 45,007,079 (GRCm38)	V792D	unknown	Het
Sgsm1	T	A	5: 113,276,082 (GRCm38)	Q461L	possibly damaging	Het
Slc18b1	A	G	10: 23,826,182 (GRCm38)	T434A	probably benign	Het
Sltm	C	G	9: 70,586,673 (GRCm38)	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 69,018,067 (GRCm38)		probably benign	Het
Snx33	A	T	9: 56,926,418 (GRCm38)	D122E	probably damaging	Het
Srebf2	G	T	15: 82,185,296 (GRCm38)	V680L	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm38)		probably benign	Het
Tecpr1	C	T	5: 144,218,726 (GRCm38)	V5M	probably benign	Het
Tfg	A	G	16: 56,712,634 (GRCm38)	V54A	possibly damaging	Het
Tmem237	C	T	1: 59,116,901 (GRCm38)	C30Y	probably benign	Het
Tmem245	T	C	4: 56,916,787 (GRCm38)	K444R	probably benign	Het
Trim25	T	G	11: 89,015,776 (GRCm38)	L446R	probably null	Het
Usp37	T	C	1: 74,468,374 (GRCm38)	T495A	probably benign	Het
Vmn1r94	T	G	7: 20,167,771 (GRCm38)	T203P	probably damaging	Het
Ywhah	T	A	5: 33,026,666 (GRCm38)	M71K	probably benign	Het

Other mutations in Scrn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Scrn2	APN	11	97,030,570 (GRCm38)	missense	probably benign	0.03
IGL01580:Scrn2	APN	11	97,032,130 (GRCm38)	missense	probably benign
R1847:Scrn2	UTSW	11	97,032,195 (GRCm38)	missense	probably benign	0.22
R2509:Scrn2	UTSW	11	97,033,166 (GRCm38)	missense	possibly damaging	0.71
R2698:Scrn2	UTSW	11	97,032,296 (GRCm38)	unclassified	probably benign
R4361:Scrn2	UTSW	11	97,032,238 (GRCm38)	missense	probably null	1.00
R4927:Scrn2	UTSW	11	97,033,500 (GRCm38)	critical splice donor site	probably null
R5040:Scrn2	UTSW	11	97,030,883 (GRCm38)	missense	probably damaging	1.00
R5367:Scrn2	UTSW	11	97,033,127 (GRCm38)	missense	possibly damaging	0.95
R5534:Scrn2	UTSW	11	97,030,925 (GRCm38)	missense	probably benign	0.00
R6145:Scrn2	UTSW	11	97,032,853 (GRCm38)	missense	probably benign	0.35
R7029:Scrn2	UTSW	11	97,030,436 (GRCm38)	unclassified	probably benign
R7082:Scrn2	UTSW	11	97,033,082 (GRCm38)	missense	possibly damaging	0.68
R7165:Scrn2	UTSW	11	97,033,808 (GRCm38)	missense	probably benign
R7468:Scrn2	UTSW	11	97,033,166 (GRCm38)	missense	possibly damaging	0.95
R7568:Scrn2	UTSW	11	97,030,886 (GRCm38)	missense	probably damaging	1.00
R7950:Scrn2	UTSW	11	97,030,929 (GRCm38)	missense	probably damaging	1.00
R8239:Scrn2	UTSW	11	97,032,220 (GRCm38)	missense	probably damaging	1.00
R8398:Scrn2	UTSW	11	97,030,904 (GRCm38)	missense	probably benign	0.07
R8408:Scrn2	UTSW	11	97,031,043 (GRCm38)	missense	probably damaging	1.00
R8872:Scrn2	UTSW	11	97,032,135 (GRCm38)	missense	probably damaging	1.00
R9206:Scrn2	UTSW	11	97,032,136 (GRCm38)	missense	probably damaging	1.00
R9596:Scrn2	UTSW	11	97,033,081 (GRCm38)	missense	probably damaging	0.98
R9643:Scrn2	UTSW	11	97,030,516 (GRCm38)	missense	probably damaging	0.99
R9708:Scrn2	UTSW	11	97,032,102 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACTTTGCGGAGGTCTTCTC -3'
(R):5'- ACCGACCTAATAAGACACAGGTTG -3'

Sequencing Primer
(F):5'- AGCGGCATCAAGGTCTGTG -3'
(R):5'- CCTAATAAGACACAGGTTGAAGGAC -3'

Posted On

2019-10-24