Mutagenetix > Incidental Mutation

Incidental Mutation 'R8489:Klrc2'

657883

Institutional Source

Beutler Lab

Gene Symbol

Klrc2

Ensembl Gene

ENSMUSG00000052736

Gene Name

killer cell lectin-like receptor subfamily C, member 2

Synonyms

NKG2C

MMRRC Submission

067932-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R8489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129626565-129637700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129635787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 97 (S97P)

Ref Sequence

ENSEMBL: ENSMUSP00000071813 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071920] [ENSMUST00000112057] [ENSMUST00000118401] [ENSMUST00000119533] [ENSMUST00000145984]

AlphaFold

Q9WTJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000071920
AA Change: S97P

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000071813
Gene: ENSMUSG00000052736
AA Change: S97P

Domain	Start	End	E-Value	Type
transmembrane domain	66	88	N/A	INTRINSIC
CLECT	105	216	1.68e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112057

SMART Domains

Protein: ENSMUSP00000107688
Gene: ENSMUSG00000052736

Domain	Start	End	E-Value	Type
transmembrane domain	66	88	N/A	INTRINSIC
CLECT	122	233	1.68e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118401

SMART Domains

Protein: ENSMUSP00000113970
Gene: ENSMUSG00000052736

Domain	Start	End	E-Value	Type
transmembrane domain	65	84	N/A	INTRINSIC
CLECT	97	208	1.68e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119533

SMART Domains

Protein: ENSMUSP00000112733
Gene: ENSMUSG00000052736

Domain	Start	End	E-Value	Type
transmembrane domain	66	88	N/A	INTRINSIC
CLECT	122	233	1.68e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145984

SMART Domains

Protein: ENSMUSP00000116286
Gene: ENSMUSG00000052736

Domain	Start	End	E-Value	Type
transmembrane domain	66	88	N/A	INTRINSIC
CLECT	122	206	3.11e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI661453	C	A	17: 47,777,254 (GRCm39)		probably benign	Het
Apc2	T	G	10: 80,143,298 (GRCm39)	L466R	probably damaging	Het
Baz1b	C	A	5: 135,245,709 (GRCm39)	P386H	probably damaging	Het
Ccdc149	T	C	5: 52,533,999 (GRCm39)	D389G	probably benign	Het
Cit	T	A	5: 116,083,962 (GRCm39)		probably null	Het
Cmas	C	A	6: 142,702,596 (GRCm39)	A33E	probably benign	Het
Dcaf7	A	G	11: 105,942,743 (GRCm39)	N230S	probably damaging	Het
Dcun1d5	C	A	9: 7,206,837 (GRCm39)		probably benign	Het
Dennd5b	T	A	6: 148,986,389 (GRCm39)	D58V	probably benign	Het
Dmrt2	C	A	19: 25,655,831 (GRCm39)	Q477K	probably damaging	Het
Eva1c	A	G	16: 90,672,999 (GRCm39)	N90S	probably damaging	Het
Fcgbp	A	T	7: 27,804,435 (GRCm39)	I1848F	possibly damaging	Het
Fgfr2	T	G	7: 129,769,534 (GRCm39)	M522L	probably benign	Het
Fshr	C	A	17: 89,293,795 (GRCm39)	K294N	probably benign	Het
Gja10	T	C	4: 32,601,866 (GRCm39)	I173V	probably benign	Het
Gmnn	A	G	13: 24,941,614 (GRCm39)	S32P	probably damaging	Het
Hdac9	T	C	12: 34,487,180 (GRCm39)	N95D	probably damaging	Het
Ipo13	T	C	4: 117,758,219 (GRCm39)	T715A	probably damaging	Het
Lrrn4	G	A	2: 132,721,364 (GRCm39)	S151L	probably benign	Het
Man2a1	G	T	17: 64,908,765 (GRCm39)	S12I	possibly damaging	Het
Mplkipl1	T	C	19: 61,164,085 (GRCm39)	T117A	probably damaging	Het
Mrgprb8	T	A	7: 48,038,701 (GRCm39)	V124E	possibly damaging	Het
Myo5c	T	C	9: 75,180,128 (GRCm39)	W690R	probably damaging	Het
Ncapd2	T	C	6: 125,150,745 (GRCm39)	K817E	probably damaging	Het
Or51k2	T	C	7: 103,596,328 (GRCm39)	I185T	probably damaging	Het
Or5h27	A	G	16: 59,006,400 (GRCm39)	*149Q	probably null	Het
Or5p60	T	A	7: 107,724,372 (GRCm39)	I33F	probably benign	Het
Or8b50	T	C	9: 38,518,232 (GRCm39)	M157T	probably benign	Het
Pcdh18	A	T	3: 49,709,038 (GRCm39)	I759N	probably damaging	Het
Pcdhac2	A	T	18: 37,278,207 (GRCm39)	N396Y	probably damaging	Het
Pcm1	T	A	8: 41,766,437 (GRCm39)	C1542S	probably benign	Het
Pcsk1	T	A	13: 75,274,121 (GRCm39)	V450E	probably damaging	Het
Pld2	A	G	11: 70,445,121 (GRCm39)	K574E	probably damaging	Het
Pramel52-ps	T	C	5: 94,531,551 (GRCm39)	L145P	probably damaging	Het
Psmc1	C	T	12: 100,089,356 (GRCm39)	R410C	probably benign	Het
Rad51b	C	T	12: 79,374,024 (GRCm39)	S201L	probably benign	Het
Rgs3	T	A	4: 62,544,733 (GRCm39)	L200Q	probably damaging	Het
Rims2	A	G	15: 39,479,846 (GRCm39)	M1293V	probably damaging	Het
Scin	C	T	12: 40,131,019 (GRCm39)	G298D	probably damaging	Het
Scn8a	C	A	15: 100,867,014 (GRCm39)	F123L	probably damaging	Het
Snapc3	G	A	4: 83,369,531 (GRCm39)	C353Y	probably damaging	Het
Sned1	C	A	1: 93,210,978 (GRCm39)	S231*	probably null	Het
Tex15	A	G	8: 34,067,574 (GRCm39)	T2335A	probably benign	Het
Tigd4	G	A	3: 84,502,526 (GRCm39)	G481D	probably benign	Het
Trank1	T	G	9: 111,219,343 (GRCm39)	F2027V	probably benign	Het
Ubr1	C	T	2: 120,711,548 (GRCm39)	A1449T	probably benign	Het
Ulk1	G	T	5: 110,947,002 (GRCm39)	Y89*	probably null	Het
Usp54	A	G	14: 20,611,604 (GRCm39)	F1071L	probably benign	Het
Utrn	C	T	10: 12,587,190 (GRCm39)	E949K	probably benign	Het
Vmn2r65	T	A	7: 84,589,964 (GRCm39)	T651S	possibly damaging	Het
Wdfy1	A	G	1: 79,739,368 (GRCm39)	L17P	probably damaging	Het
Zfp672	G	A	11: 58,220,681 (GRCm39)		probably benign	Het

Other mutations in Klrc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0730:Klrc2	UTSW	6	129,635,659 (GRCm39)	missense	probably damaging	0.99
R0972:Klrc2	UTSW	6	129,635,726 (GRCm39)	missense	probably damaging	1.00
R4881:Klrc2	UTSW	6	129,637,471 (GRCm39)	missense	possibly damaging	0.50
R4988:Klrc2	UTSW	6	129,633,426 (GRCm39)	missense	probably benign	0.01
R5217:Klrc2	UTSW	6	129,633,843 (GRCm39)	missense	probably damaging	1.00
R5643:Klrc2	UTSW	6	129,633,420 (GRCm39)	missense	probably damaging	1.00
R5644:Klrc2	UTSW	6	129,633,420 (GRCm39)	missense	probably damaging	1.00
R5804:Klrc2	UTSW	6	129,637,436 (GRCm39)	missense	possibly damaging	0.82
R7583:Klrc2	UTSW	6	129,636,274 (GRCm39)	missense	probably damaging	0.98
R8055:Klrc2	UTSW	6	129,633,424 (GRCm39)	nonsense	probably null
R9043:Klrc2	UTSW	6	129,635,741 (GRCm39)	missense	probably damaging	1.00
R9467:Klrc2	UTSW	6	129,633,363 (GRCm39)	missense	probably damaging	1.00
R9547:Klrc2	UTSW	6	129,633,812 (GRCm39)	missense	probably benign
R9699:Klrc2	UTSW	6	129,637,452 (GRCm39)	missense	possibly damaging	0.57
R9703:Klrc2	UTSW	6	129,633,407 (GRCm39)	nonsense	probably null
Z1177:Klrc2	UTSW	6	129,637,380 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGAGCTGGTTGTACAAATGTTGAC -3'
(R):5'- TACATAAACACGGACCAGATGTTG -3'

Sequencing Primer
(F):5'- GGTAAGCAATGATTGACACATGTC -3'
(R):5'- ACACGGACCAGATGTTGACTCTG -3'

Posted On

2021-01-18