Mutagenetix > Incidental Mutation

Incidental Mutation 'R9753:Nrsn1'

732649

Institutional Source

Beutler Lab

Gene Symbol

Nrsn1

Ensembl Gene

ENSMUSG00000048978

Gene Name

neurensin 1

Synonyms

Vmp, Neuro-p24, Neurensin-1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9753 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25436022-25453979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25437563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 122 (V122L)

Ref Sequence

ENSEMBL: ENSMUSP00000055048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057866] [ENSMUST00000167305]

AlphaFold

P97799

Predicted Effect

probably benign
Transcript: ENSMUST00000057866
AA Change: V122L

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000055048
Gene: ENSMUSG00000048978
AA Change: V122L

Domain	Start	End	E-Value	Type
Pfam:Neurensin	24	154	2.3e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167305
AA Change: V122L

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000128979
Gene: ENSMUSG00000048978
AA Change: V122L

Domain	Start	End	E-Value	Type
Pfam:Neurensin	24	159	3.6e-57	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak9	G	A	10: 41,259,496 (GRCm39)	V843I		Het
Bbs12	T	C	3: 37,373,680 (GRCm39)	C43R	possibly damaging	Het
Brwd1	T	C	16: 95,825,028 (GRCm39)	E1145G	probably damaging	Het
C2cd4c	A	C	10: 79,448,067 (GRCm39)	I360S	probably damaging	Het
Carmil2	A	G	8: 106,417,539 (GRCm39)	N599S	probably damaging	Het
Cd79b	A	G	11: 106,203,457 (GRCm39)		probably null	Het
Ces2c	A	G	8: 105,580,249 (GRCm39)	M489V	probably benign	Het
Clip4	A	G	17: 72,106,068 (GRCm39)	N84D	probably benign	Het
Cramp1	T	C	17: 25,191,320 (GRCm39)	D1047G	possibly damaging	Het
Cyp2c69	C	T	19: 39,865,991 (GRCm39)	V201M	probably benign	Het
Dock2	A	G	11: 34,223,673 (GRCm39)	S1154P	possibly damaging	Het
Elk4	T	G	1: 131,945,881 (GRCm39)	V253G	probably benign	Het
Erbb4	T	A	1: 68,238,062 (GRCm39)	H809L	probably benign	Het
Ext1	A	T	15: 53,208,067 (GRCm39)	D231E	probably damaging	Het
Fam221b	T	C	4: 43,665,574 (GRCm39)	K295E	probably benign	Het
Fbrsl1	A	G	5: 110,526,835 (GRCm39)	F2L	unknown	Het
Fnip2	C	T	3: 79,415,411 (GRCm39)	R209H	probably benign	Het
Gart	C	T	16: 91,430,949 (GRCm39)	G371D	probably damaging	Het
Gata6	T	A	18: 11,064,706 (GRCm39)	V506D	possibly damaging	Het
Gba2	T	C	4: 43,568,716 (GRCm39)	Y620C	probably damaging	Het
Gprc6a	T	C	10: 51,504,364 (GRCm39)	N160S	probably benign	Het
Gstm3	A	G	3: 107,875,493 (GRCm39)	W46R	probably damaging	Het
Hcn4	G	A	9: 58,751,319 (GRCm39)	R315H	unknown	Het
Hydin	T	C	8: 111,217,398 (GRCm39)	F1429L	possibly damaging	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Itgb1bp1	A	G	12: 21,326,890 (GRCm39)	S28P	unknown	Het
Krt10	A	G	11: 99,279,792 (GRCm39)	F123L	unknown	Het
Krt79	T	G	15: 101,839,196 (GRCm39)	E424D	probably benign	Het
Lingo4	C	T	3: 94,309,493 (GRCm39)	R144*	probably null	Het
Ltbr	G	A	6: 125,284,348 (GRCm39)	R365W	probably damaging	Het
Or10h5	C	A	17: 33,434,688 (GRCm39)	G210V	possibly damaging	Het
Or2r2	T	C	6: 42,463,507 (GRCm39)	M207V	probably benign	Het
Or4d6	T	A	19: 12,086,056 (GRCm39)	M59L	probably benign	Het
Pcgf6	T	C	19: 47,023,073 (GRCm39)	T353A	probably damaging	Het
Pcsk2	T	C	2: 143,635,150 (GRCm39)	Y342H	probably damaging	Het
Pou2af1	A	T	9: 51,149,636 (GRCm39)	N243Y	possibly damaging	Het
Prkcz	T	C	4: 155,377,659 (GRCm39)	D197G	probably benign	Het
Sec14l4	G	A	11: 3,989,982 (GRCm39)	E94K	probably benign	Het
Sik2	T	C	9: 50,807,139 (GRCm39)	E757G	probably damaging	Het
Sipa1l1	T	A	12: 82,463,763 (GRCm39)	S1154T	possibly damaging	Het
Speer1k	A	T	5: 10,999,020 (GRCm39)	T53S		Het
Ssb	T	C	2: 69,697,865 (GRCm39)	Y175H	probably damaging	Het
St6galnac6	T	C	2: 32,502,261 (GRCm39)	I50T	probably benign	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Tmcc1	G	C	6: 115,999,071 (GRCm39)	R323G	possibly damaging	Het
Unc13b	C	T	4: 43,182,842 (GRCm39)	R396*	probably null	Het
Vezt	A	G	10: 93,806,183 (GRCm39)	S743P	probably benign	Het
Vmn1r77	A	C	7: 11,775,659 (GRCm39)	N145T	probably damaging	Het
Vmn2r98	A	C	17: 19,285,665 (GRCm39)	T162P	probably benign	Het

Other mutations in Nrsn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02839:Nrsn1	APN	13	25,437,527 (GRCm39)	missense	probably damaging	0.97
IGL03127:Nrsn1	APN	13	25,437,700 (GRCm39)	missense	probably damaging	0.97
R0549:Nrsn1	UTSW	13	25,446,241 (GRCm39)	missense	probably benign	0.01
R3076:Nrsn1	UTSW	13	25,437,542 (GRCm39)	missense	probably benign	0.12
R4804:Nrsn1	UTSW	13	25,437,580 (GRCm39)	missense	probably benign	0.40
R6020:Nrsn1	UTSW	13	25,437,355 (GRCm39)	missense	probably damaging	1.00
R7094:Nrsn1	UTSW	13	25,437,724 (GRCm39)	missense	possibly damaging	0.85
R7116:Nrsn1	UTSW	13	25,437,388 (GRCm39)	missense	probably damaging	0.99
R7226:Nrsn1	UTSW	13	25,437,451 (GRCm39)	missense	probably damaging	0.99
R7859:Nrsn1	UTSW	13	25,446,254 (GRCm39)	missense	probably damaging	1.00
R8481:Nrsn1	UTSW	13	25,437,598 (GRCm39)	missense	probably damaging	1.00
R9102:Nrsn1	UTSW	13	25,437,517 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTGACAGGGATCTTGGTGTCC -3'
(R):5'- GCAGAAGGGTTCCACTGTTC -3'

Sequencing Primer
(F):5'- ATCTTGGTGTCCCCTGGGC -3'
(R):5'- AGAAGGGTTCCACTGTTCACTTTC -3'

Posted On

2022-11-14