Mutagenetix > Incidental Mutation

Incidental Mutation 'R7568:Scrn2'

585592

Institutional Source

Beutler Lab

Gene Symbol

Scrn2

Ensembl Gene

ENSMUSG00000020877

Gene Name

secernin 2

Synonyms

SES2, D11Moh48

MMRRC Submission

045630-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7568 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96920764-96924784 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96921712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 61 (Y61H)

Ref Sequence

ENSEMBL: ENSMUSP00000021249 (fasta)

Gene Model

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

AlphaFold

Q8VCA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000021249
AA Change: Y61H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021249
Gene: ENSMUSG00000020877
AA Change: Y61H

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 damaging
Transcript: ENSMUST00000153482
AA Change: Y61H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116606
Gene: ENSMUSG00000020877
AA Change: Y61H

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: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,391,956 (GRCm39)	V97E	possibly damaging	Het
Actl7a	A	T	4: 56,744,498 (GRCm39)	T342S	probably damaging	Het
Alcam	A	G	16: 52,088,749 (GRCm39)	S554P	probably damaging	Het
Ano3	T	C	2: 110,780,638 (GRCm39)		probably benign	Het
Atad2b	T	A	12: 5,060,390 (GRCm39)		probably null	Het
Baz2a	T	C	10: 127,961,139 (GRCm39)	S1621P	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	GGTTCTGTGGTCACT	GGTTCTGTGGTCACTAGTTCTGTGGTCACT	3: 95,795,484 (GRCm39)		probably benign	Het
BC028528	GTCACTGGTTCTGTGGTCACTGGTTCTGTG	GTCACTGGTTCTGTGATCACTGGTTCTGTGGTCACTGGTTCTGTG	3: 95,795,463 (GRCm39)		probably benign	Het
Best1	T	A	19: 9,966,639 (GRCm39)		probably null	Het
Catip	G	T	1: 74,408,089 (GRCm39)	E474*	probably null	Het
Comp	A	G	8: 70,826,509 (GRCm39)	D28G	probably benign	Het
Crebbp	G	A	16: 3,944,353 (GRCm39)	R600W	probably benign	Het
Cyfip1	A	G	7: 55,521,997 (GRCm39)		probably null	Het
Ddr1	A	G	17: 35,995,174 (GRCm39)	S675P	probably damaging	Het
Dhtkd1	A	T	2: 5,926,898 (GRCm39)		probably null	Het
F2rl1	G	A	13: 95,650,522 (GRCm39)	A120V	probably damaging	Het
Fam136a	A	G	6: 86,342,784 (GRCm39)	N24D	probably benign	Het
Fbxw10	C	A	11: 62,765,994 (GRCm39)	Q755K	probably benign	Het
Fbxw16	C	A	9: 109,268,657 (GRCm39)	Q244H	possibly damaging	Het
Gabrg2	T	C	11: 41,807,119 (GRCm39)	K373E	probably benign	Het
Herc3	G	A	6: 58,820,795 (GRCm39)	V60I	probably benign	Het
Igkv19-93	T	A	6: 68,713,477 (GRCm39)	K51*	probably null	Het
Krt23	T	A	11: 99,383,626 (GRCm39)	K89*	probably null	Het
Mavs	A	G	2: 131,087,395 (GRCm39)	T298A	probably benign	Het
Mlec	T	C	5: 115,288,181 (GRCm39)	Y198C	probably damaging	Het
Ncam2	C	A	16: 81,386,689 (GRCm39)	N689K	probably benign	Het
Nfkbia	A	G	12: 55,538,546 (GRCm39)	I82T	probably damaging	Het
Or12d14-ps1	A	G	17: 37,673,496 (GRCm39)	I163V	probably benign	Het
Or12j2	A	G	7: 139,915,895 (GRCm39)	N40S	probably damaging	Het
Or7a35	A	T	10: 78,853,341 (GRCm39)	I62F	probably benign	Het
Or8b43	A	G	9: 38,360,942 (GRCm39)	Y258C	probably damaging	Het
Pom121l2	A	T	13: 22,166,796 (GRCm39)	I356F	probably benign	Het
Ppip5k1	A	T	2: 121,168,096 (GRCm39)	L719Q	probably damaging	Het
Satb1	A	T	17: 52,089,752 (GRCm39)	V365D	possibly damaging	Het
Siglec1	C	T	2: 130,914,602 (GRCm39)	V1505M	probably damaging	Het
Slc2a10	A	G	2: 165,356,802 (GRCm39)	N154S	probably damaging	Het
Slc39a10	A	T	1: 46,874,290 (GRCm39)	H337Q	probably benign	Het
Slc39a12	T	A	2: 14,404,939 (GRCm39)		probably null	Het
Slc6a6	T	G	6: 91,701,832 (GRCm39)	L80R	probably damaging	Het
Slit1	T	C	19: 41,590,074 (GRCm39)	Y1404C	probably damaging	Het
Sowahc	A	G	10: 59,059,121 (GRCm39)	E419G	probably damaging	Het
Ssh1	T	C	5: 114,095,441 (GRCm39)		probably null	Het
Stab1	C	A	14: 30,874,552 (GRCm39)	C952F	probably damaging	Het
Stat5a	T	C	11: 100,765,850 (GRCm39)	M312T	possibly damaging	Het
Tex2	A	G	11: 106,439,562 (GRCm39)	I606T	unknown	Het
Tex55	T	C	16: 38,648,809 (GRCm39)	E100G	possibly damaging	Het
Vmn1r19	A	G	6: 57,381,813 (GRCm39)	H122R	possibly damaging	Het
Zfp959	A	G	17: 56,204,886 (GRCm39)	I308V	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
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
R8398:Scrn2	UTSW	11	96,921,730 (GRCm39)	missense	probably benign	0.07
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'- GACCCTTGAGTGGAGTTAGC -3'
(R):5'- ATAGACTCAGGCTAGGTGGG -3'

Sequencing Primer
(F):5'- ACCCTTGAGTGGAGTTAGCTTCTG -3'
(R):5'- GTGGGGCACTGAAGAGC -3'

Posted On

2019-10-17