Mutagenetix > Incidental Mutation

Incidental Mutation 'R9206:Scrn2'

698539

Institutional Source

Beutler Lab

Gene Symbol

Scrn2

Ensembl Gene

ENSMUSG00000020877

Gene Name

secernin 2

Synonyms

SES2, D11Moh48

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9206 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97029938-97033958 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97032136 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 135 (I135T)

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: I135T

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

SMART Domains

Protein: ENSMUSP00000021249
Gene: ENSMUSG00000020877
AA Change: I135T

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: I135T

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

SMART Domains

Protein: ENSMUSP00000116606
Gene: ENSMUSG00000020877
AA Change: I135T

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: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	G	17: 45,509,404	D248G	probably benign	Het
Abcc5	C	A	16: 20,389,389	V605F	probably benign	Het
AI314180	A	T	4: 58,875,444	D173E	probably damaging	Het
Als2	A	G	1: 59,185,247	Y1066H	probably damaging	Het
Apbb1	A	G	7: 105,559,520	S569P	probably damaging	Het
Apex1	T	G	14: 50,925,668	D69E	possibly damaging	Het
Atg13	A	T	2: 91,682,061	F288I	probably benign	Het
Atl3	A	G	19: 7,510,082	I121V	probably benign	Het
Atoh1	A	G	6: 64,729,729	E136G	probably benign	Het
Ccr7	T	C	11: 99,149,069	N9S	probably benign	Het
Cdhr1	A	C	14: 37,080,548	W653G	probably damaging	Het
Cln6	T	A	9: 62,849,183	M203K	probably benign	Het
Crnn	A	C	3: 93,146,944	I45L	possibly damaging	Het
Cse1l	C	A	2: 166,941,265	N743K	probably damaging	Het
Cyp1a2	A	G	9: 57,682,300	I77T	probably damaging	Het
D6Wsu163e	A	G	6: 126,966,969	I443V	probably benign	Het
Dnah7a	G	T	1: 53,501,598	T2539N	probably benign	Het
Fam13c	A	G	10: 70,553,039	E465G	probably damaging	Het
Fat4	G	C	3: 39,009,241	G4449R	probably damaging	Het
Fgd5	T	C	6: 92,038,210	L964S	probably damaging	Het
Fpr3	A	T	17: 17,970,869	Q134L	probably damaging	Het
Gm973	A	T	1: 59,552,426	Q323L	possibly damaging	Het
Gna15	A	G	10: 81,509,390	S214P	probably benign	Het
Iars2	A	T	1: 185,317,949	M446K	possibly damaging	Het
Kcnh7	A	G	2: 62,777,603	S545P	probably damaging	Het
Kif1a	G	T	1: 93,051,480	D928E	probably damaging	Het
Kif26a	C	T	12: 112,178,046	T1578M	possibly damaging	Het
Kif5a	A	G	10: 127,243,358		probably null	Het
Klhl31	T	A	9: 77,651,107	Y368*	probably null	Het
Krtap27-1	A	G	16: 88,671,428	V76A	possibly damaging	Het
Lamc1	A	T	1: 153,250,451	H498Q	probably damaging	Het
Ltbp4	A	T	7: 27,322,925	C924S	probably damaging	Het
Ltn1	T	C	16: 87,400,410	D1180G	probably benign	Het
Macf1	A	G	4: 123,684,132	C20R	unknown	Het
Mpp7	T	C	18: 7,403,327	R328G	probably benign	Het
Ncdn	A	T	4: 126,750,248	D260E	probably benign	Het
Nlrp9a	C	A	7: 26,558,231	L425M	possibly damaging	Het
Nop9	T	A	14: 55,750,135		probably null	Het
Nrip1	T	C	16: 76,292,728	E647G	possibly damaging	Het
Nt5c3	C	A	6: 56,897,808	M1I	probably null	Het
Olfr1314	A	G	2: 112,092,065	F212S	probably benign	Het
Olfr69	A	G	7: 103,768,271	I42T	probably benign	Het
Olfr892-ps1	T	C	9: 38,189,824	M33T	possibly damaging	Het
Patj	A	T	4: 98,539,073	I172F	unknown	Het
Plxna4	A	T	6: 32,517,444	V79D	probably damaging	Het
Ptprd	C	G	4: 75,954,078	A1134P	possibly damaging	Het
Rbm27	T	A	18: 42,314,098	Y469*	probably null	Het
Rbm33	A	G	5: 28,352,586	T266A	probably damaging	Het
Rcbtb2	C	T	14: 73,177,060	S437L	probably damaging	Het
Rcor3	A	T	1: 192,101,595	*448R	probably null	Het
Scn10a	T	C	9: 119,616,761	Y1442C	probably damaging	Het
Scn2a	A	T	2: 65,717,787	I1108F	probably damaging	Het
Sptan1	A	T	2: 30,030,712	M2380L	possibly damaging	Het
Tbc1d12	T	C	19: 38,836,998	S98P	probably benign	Het
Tmem106b	A	T	6: 13,082,431	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,834,213	V205A	probably benign	Het
Tor4a	A	T	2: 25,194,963	N309K	probably damaging	Het
Trbv4	A	G	6: 41,059,690	T50A	probably benign	Het
Tspyl4	A	G	10: 34,297,572	H20R	probably benign	Het
Tvp23b	T	C	11: 62,882,016	I31T	possibly damaging	Het
Vmn1r192	A	T	13: 22,187,231	F273Y	probably damaging	Het
Vmn2r6	T	A	3: 64,559,611	I156F	probably damaging	Het
Wnk4	T	C	11: 101,274,056	I737T	probably damaging	Het
Zfp329	A	T	7: 12,811,158	D146E	probably benign	Het
Zfp40	A	G	17: 23,175,577	F679L	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp804b	T	C	5: 6,772,154	N303S	probably benign	Het

Other mutations in Scrn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Scrn2	APN	11	97030570	missense	probably benign	0.03
IGL01580:Scrn2	APN	11	97032130	missense	probably benign
R1847:Scrn2	UTSW	11	97032195	missense	probably benign	0.22
R2509:Scrn2	UTSW	11	97033166	missense	possibly damaging	0.71
R2698:Scrn2	UTSW	11	97032296	unclassified	probably benign
R4361:Scrn2	UTSW	11	97032238	missense	probably null	1.00
R4927:Scrn2	UTSW	11	97033500	critical splice donor site	probably null
R5040:Scrn2	UTSW	11	97030883	missense	probably damaging	1.00
R5367:Scrn2	UTSW	11	97033127	missense	possibly damaging	0.95
R5534:Scrn2	UTSW	11	97030925	missense	probably benign	0.00
R6145:Scrn2	UTSW	11	97032853	missense	probably benign	0.35
R7029:Scrn2	UTSW	11	97030436	unclassified	probably benign
R7082:Scrn2	UTSW	11	97033082	missense	possibly damaging	0.68
R7165:Scrn2	UTSW	11	97033808	missense	probably benign
R7468:Scrn2	UTSW	11	97033166	missense	possibly damaging	0.95
R7568:Scrn2	UTSW	11	97030886	missense	probably damaging	1.00
R7632:Scrn2	UTSW	11	97033142	missense	possibly damaging	0.51
R7950:Scrn2	UTSW	11	97030929	missense	probably damaging	1.00
R8239:Scrn2	UTSW	11	97032220	missense	probably damaging	1.00
R8398:Scrn2	UTSW	11	97030904	missense	probably benign	0.07
R8408:Scrn2	UTSW	11	97031043	missense	probably damaging	1.00
R8872:Scrn2	UTSW	11	97032135	missense	probably damaging	1.00
R9596:Scrn2	UTSW	11	97033081	missense	probably damaging	0.98
R9643:Scrn2	UTSW	11	97030516	missense	probably damaging	0.99
R9708:Scrn2	UTSW	11	97032102	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCTTAGCTTGGCAACTATATG -3'
(R):5'- TACGCTAGACTCCTACCCTG -3'

Sequencing Primer
(F):5'- TTCACTATGTAGACCAGGCTAGC -3'
(R):5'- AGACTCCTACCCTGGATCCG -3'

Posted On

2022-02-07