Mutagenetix > Incidental Mutation

Incidental Mutation 'R8266:Septin2'

639602

Institutional Source

Beutler Lab

Gene Symbol

Septin2

Ensembl Gene

ENSMUSG00000026276

Gene Name

septin 2

Synonyms

Nedd5, Sept2

MMRRC Submission

067691-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R8266 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93406671-93437455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93429248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 239 (V239A)

Ref Sequence

ENSEMBL: ENSMUSP00000027495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027495] [ENSMUST00000112912] [ENSMUST00000129211] [ENSMUST00000131175] [ENSMUST00000136182] [ENSMUST00000142401] [ENSMUST00000149532] [ENSMUST00000150931] [ENSMUST00000153826] [ENSMUST00000168776] [ENSMUST00000172165] [ENSMUST00000179353]

AlphaFold

P42208

PDB Structure

Crystal structure of Septin 2 in complex with GppNHp and Mg2+ [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027495
AA Change: V239A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027495
Gene: ENSMUSG00000026276
AA Change: V239A

Domain	Start	End	E-Value	Type
Pfam:Septin	34	313	1.1e-129	PFAM
Pfam:MMR_HSR1	39	242	3.2e-8	PFAM
low complexity region	330	348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112912

SMART Domains

Protein: ENSMUSP00000108534
Gene: ENSMUSG00000026276

Domain	Start	End	E-Value	Type
Pfam:Septin	34	221	4.8e-87	PFAM
Pfam:AIG1	38	130	1.1e-6	PFAM
Pfam:MMR_HSR1	39	213	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129211

SMART Domains

Protein: ENSMUSP00000120511
Gene: ENSMUSG00000026276

Domain	Start	End	E-Value	Type
Pfam:Septin	34	213	4.9e-85	PFAM
Pfam:AIG1	38	131	9.9e-7	PFAM
Pfam:MMR_HSR1	39	211	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131175

SMART Domains

Protein: ENSMUSP00000120694
Gene: ENSMUSG00000026276

Domain	Start	End	E-Value	Type
Pfam:Septin	34	212	6.5e-85	PFAM
Pfam:AIG1	38	131	9.8e-7	PFAM
Pfam:MMR_HSR1	39	211	1.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136182

SMART Domains

Protein: ENSMUSP00000118621
Gene: ENSMUSG00000026276

Domain	Start	End	E-Value	Type
Pfam:AIG1	1	96	1.4e-6	PFAM
Pfam:MMR_HSR1	1	103	1.3e-8	PFAM
Pfam:Septin	1	107	6.4e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142401

SMART Domains

Protein: ENSMUSP00000121974
Gene: ENSMUSG00000026276

Domain	Start	End	E-Value	Type
Pfam:Septin	64	177	4.9e-49	PFAM
Pfam:AIG1	68	159	2.3e-7	PFAM
Pfam:MMR_HSR1	69	172	1.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149532

SMART Domains

Protein: ENSMUSP00000115536
Gene: ENSMUSG00000026276

Domain	Start	End	E-Value	Type
Pfam:Septin	34	120	7e-35	PFAM
Pfam:GTP_EFTU	37	110	9.5e-6	PFAM
Pfam:AIG1	38	120	3.4e-7	PFAM
Pfam:Ras	39	115	1.2e-5	PFAM
Pfam:MMR_HSR1	39	118	2.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150931

SMART Domains

Protein: ENSMUSP00000117517
Gene: ENSMUSG00000026276

Domain	Start	End	E-Value	Type
Pfam:Septin	34	221	4.8e-87	PFAM
Pfam:AIG1	38	130	1.1e-6	PFAM
Pfam:MMR_HSR1	39	213	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153826

SMART Domains

Protein: ENSMUSP00000114614
Gene: ENSMUSG00000026276

Domain	Start	End	E-Value	Type
Pfam:Septin	34	77	4.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000157021

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168776
AA Change: V239A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132850
Gene: ENSMUSG00000116048
AA Change: V239A

Domain	Start	End	E-Value	Type
Pfam:Septin	34	313	1.4e-129	PFAM
Pfam:MMR_HSR1	39	240	1.2e-8	PFAM
low complexity region	330	348	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172165
AA Change: V199A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127276
Gene: ENSMUSG00000116048
AA Change: V199A

Domain	Start	End	E-Value	Type
Pfam:MMR_HSR1	1	203	5.8e-8	PFAM
Pfam:Septin	1	273	1.5e-125	PFAM
coiled coil region	277	308	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179353
AA Change: V239A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136366
Gene: ENSMUSG00000116048
AA Change: V239A

Domain	Start	End	E-Value	Type
Pfam:Septin	34	313	1.1e-129	PFAM
Pfam:MMR_HSR1	39	242	3.2e-8	PFAM
low complexity region	330	348	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	A	2: 30,691,254 (GRCm39)	N106Y	possibly damaging	Het
A630073D07Rik	C	T	6: 132,604,380 (GRCm39)	D22N	probably null	Het
Abcf2	CAT	CATAAT	5: 24,781,589 (GRCm39)		probably benign	Het
Ago3	T	A	4: 126,270,721 (GRCm39)	K258*	probably null	Het
AW146154	G	A	7: 41,130,592 (GRCm39)	R175*	probably null	Het
Bmp8a	G	A	4: 123,209,626 (GRCm39)	T354I	probably benign	Het
C7	T	A	15: 5,037,141 (GRCm39)	D579V	probably damaging	Het
Cacna1a	A	G	8: 85,285,848 (GRCm39)	N831S	probably damaging	Het
Ccpg1	G	A	9: 72,913,001 (GRCm39)	R179H	probably damaging	Het
Cep290	A	G	10: 100,395,533 (GRCm39)	K2114E	probably benign	Het
Cfap20dc	G	A	14: 8,482,599 (GRCm38)	Q525*	probably null	Het
Chrnb1	T	C	11: 69,675,447 (GRCm39)	*502W	probably null	Het
Col16a1	G	A	4: 129,959,224 (GRCm39)	V657M	unknown	Het
Crem	A	T	18: 3,309,535 (GRCm39)		probably benign	Het
Cyp3a25	A	T	5: 145,929,796 (GRCm39)	V191E	probably damaging	Het
Dmxl1	T	C	18: 49,976,878 (GRCm39)	I80T	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Exoc6	A	G	19: 37,565,497 (GRCm39)	D191G	probably benign	Het
F5	G	T	1: 164,012,693 (GRCm39)		probably null	Het
Foxf2	AGCCTCCTTACTCG	AGCCTCCTTACTCGCCTCCTTACTCG	13: 31,810,361 (GRCm39)		probably benign	Het
Fuca2	T	A	10: 13,388,633 (GRCm39)		probably benign	Het
Gm13102	A	T	4: 143,835,682 (GRCm39)	D450V	probably damaging	Het
Gm527	T	C	12: 64,967,719 (GRCm39)	L47P	probably damaging	Het
Gm5849	T	C	3: 90,685,158 (GRCm39)	E9G	probably damaging	Het
Grik1	A	G	16: 87,744,867 (GRCm39)	Y376H	probably benign	Het
Hrob	T	A	11: 102,153,046 (GRCm39)	V569E	possibly damaging	Het
Isl2	A	G	9: 55,451,408 (GRCm39)	Q187R	probably benign	Het
Kat6b	C	T	14: 21,566,913 (GRCm39)		probably benign	Het
Lpar3	C	T	3: 145,946,385 (GRCm39)	T21I	probably benign	Het
Map4k4	A	G	1: 40,050,813 (GRCm39)	T759A	possibly damaging	Het
Map7d1	G	A	4: 126,132,353 (GRCm39)	S273L	probably damaging	Het
Mcm3ap	A	T	10: 76,312,414 (GRCm39)	K498*	probably null	Het
Med13l	T	G	5: 118,880,174 (GRCm39)	S1089A	probably damaging	Het
Mybphl	T	C	3: 108,284,676 (GRCm39)	Y308H	probably damaging	Het
Or2o1	T	A	11: 49,051,352 (GRCm39)	Y170*	probably null	Het
Or51ai2	T	C	7: 103,586,746 (GRCm39)	V53A	probably damaging	Het
Pde6a	T	A	18: 61,391,284 (GRCm39)	V543E	probably damaging	Het
Pdilt	C	T	7: 119,088,604 (GRCm39)	D466N	probably benign	Het
Pole	T	C	5: 110,442,786 (GRCm39)	V313A	probably damaging	Het
Ppfia1	T	C	7: 144,068,231 (GRCm39)	R439G	possibly damaging	Het
Reg1	T	A	6: 78,404,342 (GRCm39)	V72E	possibly damaging	Het
Reln	T	A	5: 22,223,085 (GRCm39)	I983F	possibly damaging	Het
Rnft2	T	A	5: 118,375,623 (GRCm39)	D42V	possibly damaging	Het
Rps6ka1	A	G	4: 133,590,995 (GRCm39)	Y350H	probably damaging	Het
Sec61a2	A	G	2: 5,881,650 (GRCm39)		probably null	Het
Sigirr	T	C	7: 140,671,662 (GRCm39)	T374A	unknown	Het
Six4	T	A	12: 73,155,423 (GRCm39)	I507F	possibly damaging	Het
Ska1	T	C	18: 74,337,412 (GRCm39)	I45V	probably benign	Het
Spink2	T	G	5: 77,359,213 (GRCm39)	R3S	unknown	Het
Stox2	C	T	8: 47,645,060 (GRCm39)	G800D	probably damaging	Het
Tmem121b	T	C	6: 120,469,193 (GRCm39)	E508G	probably damaging	Het
Tmx4	T	C	2: 134,481,461 (GRCm39)	Y154C	unknown	Het
Usp34	T	A	11: 23,436,810 (GRCm39)		probably benign	Het
Vmn2r27	A	G	6: 124,168,937 (GRCm39)	V731A	probably benign	Het
Wdr72	A	T	9: 74,050,774 (GRCm39)	M89L	probably damaging	Het
Xirp2	A	T	2: 67,338,918 (GRCm39)	K386N	probably damaging	Het
Zfp113	C	T	5: 138,148,881 (GRCm39)	V88M	probably damaging	Het
Zfp609	G	T	9: 65,610,996 (GRCm39)	R656S	possibly damaging	Het

Other mutations in Septin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Septin2	APN	1	93,426,864 (GRCm39)	missense	probably damaging	1.00
IGL01909:Septin2	APN	1	93,426,823 (GRCm39)	missense	probably damaging	1.00
IGL02504:Septin2	APN	1	93,428,203 (GRCm39)	missense	probably benign	0.06
R0136:Septin2	UTSW	1	93,434,772 (GRCm39)	missense	possibly damaging	0.57
R0140:Septin2	UTSW	1	93,429,361 (GRCm39)	missense	probably damaging	1.00
R0335:Septin2	UTSW	1	93,423,321 (GRCm39)	missense	probably damaging	1.00
R0538:Septin2	UTSW	1	93,429,345 (GRCm39)	missense	probably damaging	1.00
R1370:Septin2	UTSW	1	93,426,828 (GRCm39)	missense	probably damaging	1.00
R1463:Septin2	UTSW	1	93,427,037 (GRCm39)	missense	possibly damaging	0.79
R4832:Septin2	UTSW	1	93,426,849 (GRCm39)	missense	probably damaging	0.98
R5443:Septin2	UTSW	1	93,425,174 (GRCm39)	missense	possibly damaging	0.95
R5845:Septin2	UTSW	1	93,426,757 (GRCm39)	splice site	probably null
R5898:Septin2	UTSW	1	93,407,023 (GRCm39)	missense	probably benign
R6122:Septin2	UTSW	1	93,425,098 (GRCm39)	missense	probably damaging	1.00
R6542:Septin2	UTSW	1	93,425,188 (GRCm39)	critical splice donor site	probably null
R7784:Septin2	UTSW	1	93,425,166 (GRCm39)	missense	probably damaging	1.00
R8074:Septin2	UTSW	1	93,433,283 (GRCm39)	missense	probably benign
R8277:Septin2	UTSW	1	93,427,030 (GRCm39)	missense	probably benign	0.20
R9154:Septin2	UTSW	1	93,429,310 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGCACTCAGTCAGATGTAGTTAAG -3'
(R):5'- GAATGTCCCCACTCTTCATGG -3'

Sequencing Primer
(F):5'- ACTTTGTAGACCAGGTCAGC -3'
(R):5'- CATGGTCTGCCCTAGTGAATACG -3'

Posted On

2020-07-28