Mutagenetix > Incidental Mutation

Incidental Mutation 'R7338:Nherf2'

569670

Institutional Source

Beutler Lab

Gene Symbol

Nherf2

Ensembl Gene

ENSMUSG00000002504

Gene Name

NHERF family PDZ scaffold protein 2

Synonyms

2010007A20Rik, Slc9a3r2, 1200011K07Rik, Tka-1, Sip-1, Sip1, Octs2, E3karp, Nherf2, Sryip1, 0610011L07Rik

MMRRC Submission

045428-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7338 (G1)

Quality Score

94.0077

Status

Not validated

Chromosome

Chromosomal Location

24858255-24869279 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 24869182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000002572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002572]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000002572

SMART Domains

Protein: ENSMUSP00000002572
Gene: ENSMUSG00000002504

Domain	Start	End	E-Value	Type
PDZ	19	91	6.31e-21	SMART
PDZ	159	231	8.79e-20	SMART
Pfam:EBP50_C	232	284	5.1e-13	PFAM
Pfam:EBP50_C	261	337	2.3e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null allele are viable, fertile and overtly normal and display normal cAMP- and cGMP-activated CFTR transepithelial chloride transport and bicarbonate secretion in the small intestine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,595,717 (GRCm39)	S357P	possibly damaging	Het
Arhgap28	T	C	17: 68,203,106 (GRCm39)	R166G	probably damaging	Het
Bcan	T	A	3: 87,901,550 (GRCm39)	E384V	probably damaging	Het
Bcl9l	A	G	9: 44,420,005 (GRCm39)	N1137S	probably benign	Het
Caprin1	A	G	2: 103,609,768 (GRCm39)	L170S	probably benign	Het
Card6	C	T	15: 5,129,354 (GRCm39)	E681K	probably benign	Het
Catsperb	G	A	12: 101,447,243 (GRCm39)	V248I	probably benign	Het
Ccnj	T	A	19: 40,825,477 (GRCm39)	H62Q	probably damaging	Het
Cd180	A	C	13: 102,842,936 (GRCm39)	I661L	probably benign	Het
Cdk11b	A	G	4: 155,732,008 (GRCm39)	R473G	unknown	Het
Cep126	T	C	9: 8,099,799 (GRCm39)	T912A	possibly damaging	Het
Chek2	T	A	5: 111,021,380 (GRCm39)	V530E	probably benign	Het
Chga	G	T	12: 102,529,100 (GRCm39)	S359I	probably damaging	Het
Cnrip1	T	C	11: 17,004,657 (GRCm39)	V69A	probably damaging	Het
Cyp2a5	A	T	7: 26,542,372 (GRCm39)	Q458L	probably damaging	Het
Cyp2j11	T	A	4: 96,195,524 (GRCm39)	T391S	possibly damaging	Het
Dhx16	T	C	17: 36,199,036 (GRCm39)	L794P	probably damaging	Het
Dscaml1	A	G	9: 45,585,802 (GRCm39)	T580A	probably benign	Het
Elmo1	A	T	13: 20,464,982 (GRCm39)	I184L	probably benign	Het
Gabra1	C	T	11: 42,073,121 (GRCm39)	G51S	unknown	Het
Gabrr3	C	A	16: 59,268,439 (GRCm39)	L351I	possibly damaging	Het
Gbp7	A	T	3: 142,243,786 (GRCm39)	N111I	probably damaging	Het
Gjd2	C	T	2: 113,841,583 (GRCm39)	R298H	probably damaging	Het
Gm5930	T	C	14: 44,573,914 (GRCm39)	Y141C	probably damaging	Het
Grin3a	G	T	4: 49,771,238 (GRCm39)	N511K	probably benign	Het
Hdac7	T	C	15: 97,707,903 (GRCm39)	D122G	probably benign	Het
Ifi204	G	A	1: 173,587,703 (GRCm39)	T152I	possibly damaging	Het
Lrrc9	C	T	12: 72,510,305 (GRCm39)		probably null	Het
Med21	T	A	6: 146,544,082 (GRCm39)		probably benign	Het
Mmp19	A	T	10: 128,634,952 (GRCm39)	T523S	probably benign	Het
Nav3	G	A	10: 109,605,073 (GRCm39)	T1000I	probably benign	Het
Nin	T	C	12: 70,090,838 (GRCm39)	D859G		Het
Nip7	T	G	8: 107,783,916 (GRCm39)	L52R	possibly damaging	Het
Or10d1c	A	G	9: 38,893,816 (GRCm39)	Y175H	probably damaging	Het
Or5al5	A	T	2: 85,961,726 (GRCm39)	F94I	probably damaging	Het
Or6b13	A	T	7: 139,782,446 (GRCm39)	V79E	probably benign	Het
Otop1	T	A	5: 38,457,547 (GRCm39)	Y435*	probably null	Het
Pak4	A	G	7: 28,264,381 (GRCm39)	S174P	probably benign	Het
Pcsk7	G	A	9: 45,837,287 (GRCm39)	R537Q	probably benign	Het
Podxl	G	A	6: 31,505,941 (GRCm39)	S34F	unknown	Het
Prr36	G	A	8: 4,266,212 (GRCm39)	R113C	probably damaging	Het
Ptk7	T	C	17: 46,890,525 (GRCm39)	I436V	probably benign	Het
Slc13a5	C	T	11: 72,157,310 (GRCm39)	V28I	probably benign	Het
Slco6d1	A	T	1: 98,349,097 (GRCm39)	D56V	probably benign	Het
Spg11	G	A	2: 121,885,858 (GRCm39)	R2317W	probably damaging	Het
Stom	T	A	2: 35,213,760 (GRCm39)		probably null	Het
Svs5	T	C	2: 164,174,728 (GRCm39)	L8P	possibly damaging	Het
Tmem141	C	A	2: 25,511,626 (GRCm39)	V39F	probably damaging	Het
Tmprss6	A	G	15: 78,344,019 (GRCm39)	L181P	probably damaging	Het
Tnni3	A	G	7: 4,524,379 (GRCm39)	S40P	probably benign	Het
Tubgcp4	A	G	2: 121,024,465 (GRCm39)	I548V	probably benign	Het
Twf2	A	G	9: 106,081,138 (GRCm39)		probably benign	Het
Wnt5b	C	A	6: 119,425,092 (GRCm39)		probably null	Het
Wrap73	A	G	4: 154,237,043 (GRCm39)	D210G	probably benign	Het
Yipf4	T	G	17: 74,796,771 (GRCm39)	S21A	probably benign	Het
Zscan20	A	G	4: 128,481,943 (GRCm39)	M573T	probably benign	Het

Other mutations in Nherf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02676:Nherf2	APN	17	24,860,930 (GRCm39)	missense	probably damaging	1.00
R1843:Nherf2	UTSW	17	24,860,693 (GRCm39)	missense	possibly damaging	0.75
R2199:Nherf2	UTSW	17	24,859,570 (GRCm39)	missense	probably null	0.37
R2912:Nherf2	UTSW	17	24,861,215 (GRCm39)	missense	probably damaging	1.00
R4774:Nherf2	UTSW	17	24,863,873 (GRCm39)	start codon destroyed	probably null	0.01
R5352:Nherf2	UTSW	17	24,861,229 (GRCm39)	missense	probably damaging	1.00
R5356:Nherf2	UTSW	17	24,860,945 (GRCm39)	missense	probably damaging	1.00
R5562:Nherf2	UTSW	17	24,860,798 (GRCm39)	missense	probably benign	0.06
R5841:Nherf2	UTSW	17	24,863,851 (GRCm39)	missense	probably benign
R7231:Nherf2	UTSW	17	24,869,078 (GRCm39)	missense	probably damaging	1.00
R7539:Nherf2	UTSW	17	24,860,873 (GRCm39)	missense	probably damaging	0.99
R8276:Nherf2	UTSW	17	24,861,234 (GRCm39)	nonsense	probably null
R8750:Nherf2	UTSW	17	24,861,233 (GRCm39)	missense	probably damaging	0.98
R8875:Nherf2	UTSW	17	24,866,703 (GRCm39)	critical splice acceptor site	probably null
R8913:Nherf2	UTSW	17	24,863,839 (GRCm39)	missense	probably benign
R9594:Nherf2	UTSW	17	24,868,922 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTACGTTGACGCCGTTGAC -3'
(R):5'- TTGCCTGACCAAGCAATCC -3'

Sequencing Primer
(F):5'- TGAAAGCCGTACCCTTG -3'
(R):5'- AAGCAATCCCACTCCTTGGTC -3'

Posted On

2019-09-13