Mutagenetix > Incidental Mutation

Incidental Mutation 'R8750:Nherf2'

663808

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

068593-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8750 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24858255-24869279 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24861233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 176 (I176V)

Ref Sequence

ENSEMBL: ENSMUSP00000002572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002572] [ENSMUST00000019684] [ENSMUST00000047611]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000002572
AA Change: I176V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000002572
Gene: ENSMUSG00000002504
AA Change: I176V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000019684
AA Change: I65V

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000019684
Gene: ENSMUSG00000002504
AA Change: I65V

Domain	Start	End	E-Value	Type
PDZ	48	120	8.79e-20	SMART
Pfam:EBP50_C-term	186	226	2.7e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047611

SMART Domains

Protein: ENSMUSP00000047413
Gene: ENSMUSG00000041429

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
low complexity region	24	37	N/A	INTRINSIC
low complexity region	55	68	N/A	INTRINSIC
ENDO3c	126	276	1.06e-58	SMART
FES	277	297	4.82e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	G	A	12: 81,607,247 (GRCm39)	Q172*	probably null	Het
Ankib1	A	G	5: 3,752,890 (GRCm39)		probably null	Het
Avpr1b	C	T	1: 131,527,674 (GRCm39)	R66C	probably damaging	Het
Bbs7	A	T	3: 36,661,744 (GRCm39)	C152S	possibly damaging	Het
Cacna1a	C	A	8: 85,285,784 (GRCm39)	R810S	probably damaging	Het
Ccdc17	G	A	4: 116,457,129 (GRCm39)	A538T	possibly damaging	Het
Cd93	T	C	2: 148,285,080 (GRCm39)	M89V	probably benign	Het
Clec11a	G	T	7: 43,955,323 (GRCm39)	D157E	probably benign	Het
Crtam	A	C	9: 40,895,641 (GRCm39)	D228E	probably benign	Het
Cyp2a4	A	G	7: 26,012,209 (GRCm39)	I331V	probably benign	Het
Cysltr2	T	C	14: 73,267,078 (GRCm39)	I211V	probably benign	Het
Dcaf13	T	C	15: 38,982,836 (GRCm39)	S123P	probably damaging	Het
Dctn1	T	G	6: 83,160,108 (GRCm39)	V116G	possibly damaging	Het
Dmrt3	G	A	19: 25,588,550 (GRCm39)	A130T	probably benign	Het
Dnah1	A	T	14: 31,026,924 (GRCm39)	L700Q	probably benign	Het
Dnajc1	T	C	2: 18,313,645 (GRCm39)	T159A	probably damaging	Het
Dpyd	C	T	3: 118,935,585 (GRCm39)	S670L	probably damaging	Het
Dsg2	A	T	18: 20,708,069 (GRCm39)	I57F	possibly damaging	Het
Dzip3	A	C	16: 48,801,338 (GRCm39)	I62S	probably damaging	Het
Ern1	A	T	11: 106,312,776 (GRCm39)	S202T	probably damaging	Het
Foxm1	T	A	6: 128,350,206 (GRCm39)	C517*	probably null	Het
Galnt16	G	A	12: 80,644,879 (GRCm39)	V501I	probably benign	Het
Gmip	A	T	8: 70,273,134 (GRCm39)	R840S	probably benign	Het
Gna14	A	C	19: 16,585,458 (GRCm39)	I279L		Het
Irak2	T	C	6: 113,663,783 (GRCm39)	M444T	probably benign	Het
Itfg2	T	C	6: 128,389,755 (GRCm39)		probably null	Het
Kif5a	T	A	10: 127,083,909 (GRCm39)	H94L	probably damaging	Het
Kmt2e	A	G	5: 23,698,215 (GRCm39)	T636A	probably benign	Het
Krba1	T	C	6: 48,382,212 (GRCm39)	S152P	probably damaging	Het
Mad1l1	T	A	5: 140,300,822 (GRCm39)	M25L	probably benign	Het
Map7d1	T	C	4: 126,132,315 (GRCm39)	N286D	probably benign	Het
Mfrp	A	G	9: 44,014,802 (GRCm39)	K280E	probably benign	Het
Mlh3	G	T	12: 85,308,488 (GRCm39)	L1100I	probably damaging	Het
Mrgprx2	T	C	7: 48,131,778 (GRCm39)	I347V	probably benign	Het
Mtnr1b	A	T	9: 15,785,724 (GRCm39)	C11*	probably null	Het
Mx1	T	C	16: 97,252,917 (GRCm39)	E401G	probably damaging	Het
Mypn	T	C	10: 63,003,036 (GRCm39)	D367G	probably benign	Het
Or52a33	T	A	7: 103,289,059 (GRCm39)	D96V	probably damaging	Het
Or6c5b	T	C	10: 129,245,649 (GRCm39)	V138A	probably benign	Het
Or8s8	T	G	15: 98,354,929 (GRCm39)	I246R	probably damaging	Het
Or9g19	T	A	2: 85,600,307 (GRCm39)	L54H	probably damaging	Het
Plcb1	T	G	2: 135,177,369 (GRCm39)	M567R	probably damaging	Het
Plekhd1	A	T	12: 80,752,861 (GRCm39)	D109V	probably damaging	Het
Polr2e	A	G	10: 79,875,424 (GRCm39)	I17T	probably benign	Het
Pot1b	T	C	17: 55,973,537 (GRCm39)	D421G	probably benign	Het
Prkar1b	A	T	5: 139,036,451 (GRCm39)	W224R	probably damaging	Het
Psmd1	C	A	1: 86,016,585 (GRCm39)	R490S	probably damaging	Het
Pwp2	A	G	10: 78,013,659 (GRCm39)	W521R	probably damaging	Het
Rhpn2	C	A	7: 35,075,680 (GRCm39)	Q286K	probably benign	Het
Rnf103	T	A	6: 71,486,602 (GRCm39)	M411K	probably benign	Het
Scpep1	A	C	11: 88,835,298 (GRCm39)	V125G	probably damaging	Het
Serpinb9c	C	T	13: 33,335,793 (GRCm39)	V248M	probably null	Het
Snx15	T	A	19: 6,170,593 (GRCm39)	N282I	probably benign	Het
Spaca3	A	T	11: 80,758,514 (GRCm39)	D159V	probably benign	Het
Srrm4	A	G	5: 116,605,567 (GRCm39)	V230A	unknown	Het
Ssu2	T	A	6: 112,359,312 (GRCm39)	I103F	possibly damaging	Het
Strip2	T	A	6: 29,931,815 (GRCm39)	F453I	probably damaging	Het
Tac2	C	T	10: 127,564,319 (GRCm39)	P72L	possibly damaging	Het
Tiparp	T	G	3: 65,460,125 (GRCm39)	S473R	probably damaging	Het
Tmem135	C	T	7: 88,956,456 (GRCm39)	R53Q	probably damaging	Het
Tmem200b	T	A	4: 131,649,406 (GRCm39)	F109I	probably damaging	Het
Tmem245	A	T	4: 56,886,141 (GRCm39)	I825N	probably damaging	Het
Tmem63c	G	T	12: 87,103,306 (GRCm39)	V27F	probably damaging	Het
Tshz1	T	C	18: 84,033,162 (GRCm39)	I415M	probably damaging	Het
Tut4	C	G	4: 108,407,940 (GRCm39)	A1403G	probably damaging	Het
Wfdc2	T	A	2: 164,407,818 (GRCm39)	N162K	probably damaging	Het
Zeb2	T	A	2: 44,887,939 (GRCm39)	I373F	probably damaging	Het
Zfp27	T	C	7: 29,594,804 (GRCm39)	N387S	possibly damaging	Het
Zfp760	A	T	17: 21,941,356 (GRCm39)	H177L	possibly damaging	Het
Zg16	A	G	7: 126,649,518 (GRCm39)	S148P	possibly damaging	Het
Zic2	A	G	14: 122,714,129 (GRCm39)	N348D	probably benign	Het
Zswim4	A	T	8: 84,939,313 (GRCm39)	D856E	possibly damaging	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
R7338:Nherf2	UTSW	17	24,869,182 (GRCm39)	start gained	probably benign
R7539:Nherf2	UTSW	17	24,860,873 (GRCm39)	missense	probably damaging	0.99
R8276:Nherf2	UTSW	17	24,861,234 (GRCm39)	nonsense	probably null
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'- AGAGTGCCAGCTCAAGTTCC -3'
(R):5'- AGGTGGCTCCCTCACTAAAC -3'

Sequencing Primer
(F):5'- GCCAGCTCAAGTTCCCTGTG -3'
(R):5'- TCACAGGGCACATAGTGTCATTG -3'

Posted On

2021-03-08